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 AMY2B 0 genome.wustl.edu 37 1 104113183 104113183 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 104113183 104113183 G A SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors AMY2B HGNC ENSG00000240038 35 0 0 29 13 30.9524 CASZ1 0 genome.wustl.edu 37 1 10714031 10714031 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 10714031 10714031 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.2083 p.R695W 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 44 0 0 26 22 45.8333 WDR47 0 genome.wustl.edu 37 1 109553687 109553687 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 109553687 109553687 A G SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known silent c.1002 p.H334 0.808 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 454 0 0 170 137 44.6254 GPR61 0 genome.wustl.edu 37 1 110086476 110086476 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 110086476 110086476 C T SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known missense c.832 p.R278W 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 65 0 0 50 39 43.8202 KCNC4 0 genome.wustl.edu 37 1 110768707 110768707 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 110768707 110768707 C T SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.1726 p.R576C 0.996 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 63 0 0 32 20 38.4615 SLC16A4 0 genome.wustl.edu 37 1 110924293 110924293 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 110924293 110924293 C T SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known silent c.345 p.V115 0.988 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 52 0 0 27 11 28.9474 MTOR 0 genome.wustl.edu 37 1 11301720 11301720 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 11301720 11301720 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.1431 p.Q477H 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 114 0 0 58 36 38.2979 PHTF1 0 genome.wustl.edu 37 1 114253067 114253067 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 114253067 114253067 G A SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 0.959 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 72 0 0 31 15 32.6087 PHTF1 0 genome.wustl.edu 37 1 114254720 114254720 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 114254720 114254720 A G SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known silent c.799 p.L267 0.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 77 0 0 34 19 35.8491 TRIM33 0 genome.wustl.edu 37 1 115006998 115006998 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 115006998 115006998 C T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.539 p.R180Q 1.000 smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 53 0 0 46 22 32.3529 TRIM45 0 genome.wustl.edu 37 1 117659307 117659307 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 117659307 117659307 G A SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.1283 p.A428V 0.016 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 87 0 0 80 5 5.88235 NPPA 0 genome.wustl.edu 37 1 11907422 11907422 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 11907422 11907422 C T SNP NPPA ENST00000376480 human ensembl 74_37 -1 known silent c.198 p.P66 0.995 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 59 0 0 40 29 42.029 PRAMEF14 0 genome.wustl.edu 37 1 13669140 13669140 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 13669140 13669140 A G SNP PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known missense c.1046 p.L349P 0.005 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 164 0 0 95 87 47.8022 PRAMEF19 0 genome.wustl.edu 37 1 13695905 13695905 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 13695905 13695905 G T SNP PRAMEF19 ENST00000540591 human ensembl 74_37 -1 known missense c.1060 p.L354I 0.006 NULL NULL - no_errors PRAMEF19 HGNC ENSG00000204480 344 0 0 254 27 9.60854 PRDM2 0 genome.wustl.edu 37 1 14108436 14108436 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 14108436 14108436 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4146 p.G1382 0.176 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 65 0 0 49 40 44.9438 SRGAP2B 0 genome.wustl.edu 37 1 144053567 144053567 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 144053567 144053567 C T SNP SRGAP2B ENST00000467933 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRGAP2B HGNC ENSG00000196369 8 0 0 12 2 14.2857 PDE4DIP 0 genome.wustl.edu 37 1 144904728 144904728 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 144904728 144904728 T C SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.2584 p.M862V 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 266 0 0 100 83 45.3552 PDE4DIP 0 genome.wustl.edu 37 1 144915570 144915570 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 144915570 144915570 G A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1855 p.R619C 1.000 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 173 0 0 121 51 29.6512 ATAD3A 0 genome.wustl.edu 37 1 1451391 1451391 + Splice_Site SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 1451391 1451391 G T SNP ATAD3A ENST00000378755 human ensembl 74_37 +1 known splice_site c.206-1 e2-1 1.000 - - - no_errors ATAD3A HGNC ENSG00000197785 53 0 0 19 9 32.1429 ENSG00000255168 0 genome.wustl.edu 37 1 145273222 145273222 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 145273222 145273222 C T SNP ENSG00000255168 ENST00000468030 human ensembl 74_37 +1 known nonsense c.76 p.R26* 0.999 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors RP11-458D21.5 Clone_based_vega_gene ENSG00000255168 109 0 0 137 14 9.27152 BCL9 0 genome.wustl.edu 37 1 147095697 147095697 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 147095697 147095697 C T SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3218 p.P1073L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 206 0 0 136 70 33.9806 NBPF20 0 genome.wustl.edu 37 1 148343747 148343747 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 148343747 148343747 G A SNP NBPF20 ENST00000369202 human ensembl 74_37 -1 known missense c.340 p.R114W 0.001 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 133 0 0 64 44 40.7407 HIST2H3PS2 0 genome.wustl.edu 37 1 149400190 149400190 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 149400190 149400190 A C SNP HIST2H3PS2 ENST00000392948 human ensembl 74_37 -1 putative missense c.353 p.V118G 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 HIST2H3PS2 HGNC ENSG00000203818 81 0 0 30 29 49.1525 TARS2 0 genome.wustl.edu 37 1 150469093 150469093 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 150469093 150469093 C T SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.910 p.R304C 0.990 tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 162 0 0 74 42 36.2069 ECM1 0 genome.wustl.edu 37 1 150482172 150482172 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 150482172 150482172 C T SNP ECM1 ENST00000369049 human ensembl 74_37 +1 known nonsense c.157 p.R53* 0.004 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 124 0 0 86 33 27.7311 PSMB4 0 genome.wustl.edu 37 1 151374105 151374105 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 151374105 151374105 A G SNP PSMB4 ENST00000290541 human ensembl 74_37 +1 known missense c.781 p.S261G 1.000 pirsf_Proteasome_endopept_cplx_B pfam_Proteasome_sua/b,pirsf_Proteasome_endopept_cplx_B - no_errors PSMB4 HGNC ENSG00000159377 152 0 0 90 59 39.5973 HRNR 0 genome.wustl.edu 37 1 152187900 152187900 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 152187900 152187900 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.6205 p.G2069S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 157 0 0 163 47 22.381 INTS3 0 genome.wustl.edu 37 1 153723713 153723713 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 153723713 153723713 C T SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.727 p.R243W 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 63 0 0 29 6 17.1429 SLC27A3 0 genome.wustl.edu 37 1 153747761 153747761 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 153747761 153747761 G A SNP SLC27A3 ENST00000271857 human ensembl 74_37 +1 novel missense c.172 p.A58T 0.104 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 20 0 0 20 4 16.6667 HCN3 0 genome.wustl.edu 37 1 155257677 155257677 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 155257677 155257677 G A SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1748 p.R583Q 0.991 NULL pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 65 0 0 45 39 46.4286 PKLR 0 genome.wustl.edu 37 1 155265486 155265486 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 155265486 155265486 C T SNP PKLR ENST00000342741 human ensembl 74_37 -1 known silent c.345 p.A115 0.915 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 64 0 0 42 20 32.2581 GON4L 0 genome.wustl.edu 37 1 155735156 155735156 + Nonsense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 155735156 155735156 C A SNP GON4L ENST00000368331 human ensembl 74_37 -1 known nonsense c.4108 p.E1370* 0.049 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 180 0 0 100 70 41.1765 MIB2 0 genome.wustl.edu 37 1 1559285 1559285 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 1559285 1559285 G A SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.724 p.A242T 0.013 smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 19 0 0 14 8 36.3636 MIB2 0 genome.wustl.edu 37 1 1560527 1560527 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 1560527 1560527 C T SNP MIB2 ENST00000505820 human ensembl 74_37 +1 known missense c.1028 p.A343V 0.299 NULL pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB2 HGNC ENSG00000197530 82 0 0 67 11 14.1026 LMNA 0 genome.wustl.edu 37 1 156106708 156106708 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 156106708 156106708 G A SNP LMNA ENST00000459904 human ensembl 74_37 +1 putative rna NULL NULL 0.963 - - - no_errors LMNA HGNC ENSG00000160789 13 0 0 13 7 35 CRABP2 0 genome.wustl.edu 37 1 156675181 156675181 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 156675181 156675181 G A SNP CRABP2 ENST00000368221 human ensembl 74_37 -1 known missense c.58 p.L20F 0.973 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP2 HGNC ENSG00000143320 113 0 0 80 38 32.2034 OR10R2 0 genome.wustl.edu 37 1 158450438 158450438 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 158450438 158450438 G A SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known silent c.771 p.A257 0.956 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 OR10R2 HGNC ENSG00000198965 60 0 0 47 36 43.3735 OR6K2 0 genome.wustl.edu 37 1 158669736 158669736 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 158669736 158669736 C T SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.707 p.R236H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 57 0 0 47 33 41.25 MNDA 0 genome.wustl.edu 37 1 158817665 158817665 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 158817665 158817665 C T SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.1135 p.R379C 0.000 pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 104 0 0 62 43 40.9524 AGMAT 0 genome.wustl.edu 37 1 15905524 15905524 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 15905524 15905524 C T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.550 p.V184M 1.000 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 29 0 0 26 16 38.0952 ATP1A2 0 genome.wustl.edu 37 1 160100380 160100380 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 160100380 160100380 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1820 p.G607D 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 68 0 0 37 18 32.7273 CD84 0 genome.wustl.edu 37 1 160523188 160523188 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 160523188 160523188 C T SNP CD84 ENST00000534968 human ensembl 74_37 -1 known missense c.398 p.R133H 0.000 NULL pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 64 0 0 28 13 31.7073 RPL31P11 0 genome.wustl.edu 37 1 161654948 161654948 + RNA SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 161654948 161654948 T C SNP RPL31P11 ENST00000426558 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL31P11 HGNC ENSG00000213075 29 0 0 27 3 10 FCRLA 0 genome.wustl.edu 37 1 161681180 161681180 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 161681180 161681180 G A SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known missense c.484 p.G162R 0.999 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 39 0 0 32 28 46.6667 NOS1AP 0 genome.wustl.edu 37 1 162335235 162335235 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 162335235 162335235 G A SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known silent c.981 p.A327 0.029 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 67 0 0 44 30 40.5405 UHMK1 0 genome.wustl.edu 37 1 162470791 162470791 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 162470791 162470791 C A SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.650 p.T217K 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_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 48 0 0 22 19 46.3415 NADK 0 genome.wustl.edu 37 1 1685595 1685595 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 1685595 1685595 C A SNP NADK ENST00000344463 human ensembl 74_37 -1 known silent c.1431 p.G477 0.996 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 74 0 0 53 31 36.9048 SELL 0 genome.wustl.edu 37 1 169677835 169677835 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 169677835 169677835 A G SNP SELL ENST00000236147 human ensembl 74_37 -1 known silent c.234 p.V78 0.988 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pirsf_L-selectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 19 0 0 10 11 52.381 C1orf112 0 genome.wustl.edu 37 1 169822808 169822808 + RNA SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 169822808 169822808 T A SNP C1orf112 ENST00000459772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 144 0 0 64 62 49.2063 MROH9 0 genome.wustl.edu 37 1 170955773 170955773 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 170955773 170955773 A G SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known silent c.801 p.S267 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 79 0 0 58 52 47.2727 ARHGEF10L 0 genome.wustl.edu 37 1 17983195 17983195 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 17983195 17983195 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.2852 p.R951Q 0.996 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 40 0 0 26 13 33.3333 MR1 0 genome.wustl.edu 37 1 181018258 181018258 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 181018258 181018258 G A SNP MR1 ENST00000367580 human ensembl 74_37 +1 known silent c.138 p.S46 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 57 0 0 25 22 46.8085 IGSF21 0 genome.wustl.edu 37 1 18702693 18702693 + RNA SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 18702693 18702693 A G SNP IGSF21 ENST00000473951 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IGSF21 HGNC ENSG00000117154 33 0 0 24 15 38.4615 BRINP3 0 genome.wustl.edu 37 1 190068210 190068210 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 190068210 190068210 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1239 p.N413 0.915 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 36 0 0 25 23 47.9167 AKR7A3 0 genome.wustl.edu 37 1 19609292 19609292 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 19609292 19609292 G A SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.929 p.A310V 0.002 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 54 0 0 32 16 33.3333 DENND1B 0 genome.wustl.edu 37 1 197704717 197704717 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 197704717 197704717 C T SNP DENND1B ENST00000235453 human ensembl 74_37 -1 known silent c.51 p.S17 0.001 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 49 0 0 27 18 40 TMCO4 0 genome.wustl.edu 37 1 20009857 20009857 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 20009857 20009857 G A SNP TMCO4 ENST00000294543 human ensembl 74_37 -1 known silent c.1581 p.D527 0.204 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 46 0 0 19 11 36.6667 CACNA1S 0 genome.wustl.edu 37 1 201012450 201012450 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 201012450 201012450 G T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.5007 p.A1669 0.625 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 155 0 0 71 55 43.6508 IGFN1 0 genome.wustl.edu 37 1 201196181 201196181 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 201196181 201196181 G T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.10958 p.S3653I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 61 0 0 38 36 48.6486 LGR6 0 genome.wustl.edu 37 1 202287739 202287739 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 202287739 202287739 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2308 p.A770T 1.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 72 0 0 37 25 40.3226 MYOG 0 genome.wustl.edu 37 1 203054835 203054835 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 203054835 203054835 C T SNP MYOG ENST00000241651 human ensembl 74_37 -1 known silent c.255 p.A85 0.042 pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,pfscan_bHLH_dom pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 67 0 0 43 23 34.8485 SOX13 0 genome.wustl.edu 37 1 204094988 204094988 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 204094988 204094988 C T SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.1595 p.P532L 0.605 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 26 0 0 10 9 47.3684 PLEKHA6 0 genome.wustl.edu 37 1 204218332 204218332 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 204218332 204218332 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known nonsense c.1654 p.Q552* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 115 0 0 68 17 20 DSTYK 0 genome.wustl.edu 37 1 205119923 205119923 + Splice_Site SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 205119923 205119923 C T SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known splice_site c.2353-1 e11-1 1.000 - - - no_errors DSTYK HGNC ENSG00000133059 46 0 0 25 23 47.9167 TMCC2 0 genome.wustl.edu 37 1 205238117 205238117 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 205238117 205238117 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.787 p.G263S 0.880 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 86 0 0 59 35 37.234 MFSD4 0 genome.wustl.edu 37 1 205548987 205548987 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 205548987 205548987 G A SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known silent c.339 p.A113 0.967 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 99 0 0 41 30 42.2535 CR1L 0 genome.wustl.edu 37 1 207818618 207818618 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 207818618 207818618 C T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.40 p.R14W 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1L HGNC ENSG00000197721 88 0 0 38 40 51.2821 IRF6 0 genome.wustl.edu 37 1 209968664 209968664 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 209968664 209968664 T C SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known missense c.479 p.Q160R 1.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 115 0 0 103 7 6.36364 DIEXF 0 genome.wustl.edu 37 1 210017023 210017023 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 210017023 210017023 G A SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.2009 p.R670H 1.000 pfam_Digest_organ_expansion_fac-prd pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 95 0 0 40 22 35.4839 TMEM206 0 genome.wustl.edu 37 1 212583792 212583792 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 212583792 212583792 T G SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.291 p.R97S 0.505 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 318 0 0 169 104 38.0952 CENPF 0 genome.wustl.edu 37 1 214816309 214816309 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 214816309 214816309 C T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4628 p.S1543L 0.001 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 68 0 0 48 34 41.4634 GPATCH2 0 genome.wustl.edu 37 1 217793655 217793655 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 217793655 217793655 C T SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known silent c.243 p.P81 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 98 0 0 60 41 40.5941 GPATCH2 0 genome.wustl.edu 37 1 217793681 217793681 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 217793681 217793681 G A SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known missense c.217 p.R73W 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 136 0 0 65 49 42.9825 ALPL 0 genome.wustl.edu 37 1 21902358 21902358 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 21902358 21902358 C T SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.1130 p.A377V 0.997 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 183 0 0 87 45 34.0909 RAP1GAP 0 genome.wustl.edu 37 1 21932596 21932596 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 21932596 21932596 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1583 p.A528V 0.398 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 9 0 0 3 3 50 EPRS 0 genome.wustl.edu 37 1 220208265 220208265 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 220208265 220208265 T C SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.222 p.E74 0.959 superfamily_Glutathione-S-Trfase_C-like pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 85 0 0 54 29 34.9398 MARC1 0 genome.wustl.edu 37 1 220970104 220970104 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 220970104 220970104 G A SNP MARC1 ENST00000366910 human ensembl 74_37 +1 known missense c.569 p.R190K 0.909 superfamily_Pyrv_Knase-like_insert_dom pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom - no_errors MARC1 HGNC ENSG00000186205 27 0 0 11 10 47.619 HLX 0 genome.wustl.edu 37 1 221053223 221053223 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 221053223 221053223 C A SNP HLX ENST00000366903 human ensembl 74_37 +1 known silent c.24 p.P8 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 11 0 0 5 8 61.5385 SUSD4 0 genome.wustl.edu 37 1 223396923 223396923 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 223396923 223396923 C T SNP SUSD4 ENST00000343846 human ensembl 74_37 -1 known missense c.1112 p.G371D 0.998 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 24 0 0 9 7 43.75 OBSCN 0 genome.wustl.edu 37 1 228464338 228464338 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 228464338 228464338 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.6408 p.S2136 0.000 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 10 0 0 11 5 31.25 ACTA1 0 genome.wustl.edu 37 1 229568322 229568322 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 229568322 229568322 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.435 p.Y145 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 77 0 0 32 32 50 URB2 0 genome.wustl.edu 37 1 229783439 229783439 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 229783439 229783439 T C SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.4089 p.Y1363 0.056 pfam_Urb2/Npa2_C pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 80 0 0 76 4 5 CAPN9 0 genome.wustl.edu 37 1 230903329 230903329 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 230903329 230903329 C T SNP CAPN9 ENST00000271971 human ensembl 74_37 +1 known silent c.579 p.I193 0.060 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN9 HGNC ENSG00000135773 102 0 0 46 42 47.7273 PCNXL2 0 genome.wustl.edu 37 1 233372604 233372604 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 233372604 233372604 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2345 p.S782L 0.996 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 194 0 0 77 45 36.8852 HNRNPR 0 genome.wustl.edu 37 1 23650160 23650160 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 23650160 23650160 G A SNP HNRNPR ENST00000374616 human ensembl 74_37 -1 known silent c.564 p.A188 0.814 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors HNRNPR HGNC ENSG00000125944 98 0 0 57 46 44.6602 MTR 0 genome.wustl.edu 37 1 237057711 237057711 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 237057711 237057711 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3259 p.A1087T 0.994 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 76 0 0 43 29 40.2778 RYR2 0 genome.wustl.edu 37 1 237806639 237806639 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 237806639 237806639 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7228 p.G2410R 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 175 0 0 71 61 46.2121 RYR2 0 genome.wustl.edu 37 1 237947294 237947294 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 237947294 237947294 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.12300 p.I4100 0.905 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 32 0 0 20 12 37.5 ZP4 0 genome.wustl.edu 37 1 238051712 238051712 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 238051712 238051712 G T SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.499 p.L167I 0.000 pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 104 0 0 64 32 33.3333 EXO1 0 genome.wustl.edu 37 1 242035407 242035407 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 242035407 242035407 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known silent c.1341 p.S447 0.243 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 39 0 0 40 27 40.2985 AKT3 0 genome.wustl.edu 37 1 243675724 243675724 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 243675724 243675724 A G SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known missense c.1256 p.V419A 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 35 0 0 23 14 37.8378 KIF26B 0 genome.wustl.edu 37 1 245850605 245850605 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 245850605 245850605 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.4320 p.P1440 0.571 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 16 0 0 7 7 50 CNST 0 genome.wustl.edu 37 1 246810568 246810568 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 246810568 246810568 A G SNP CNST ENST00000366513 human ensembl 74_37 +1 known silent c.1065 p.A355 0.012 NULL NULL - no_errors CNST HGNC ENSG00000162852 110 0 0 47 52 52.5253 ZNF496 0 genome.wustl.edu 37 1 247464071 247464071 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 247464071 247464071 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1622 p.A541V 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 106 0 0 56 38 40.4255 LDLRAP1 0 genome.wustl.edu 37 1 25889318 25889318 + RNA SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 25889318 25889318 C A SNP LDLRAP1 ENST00000484476 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LDLRAP1 HGNC ENSG00000157978 11 0 0 4 4 50 PAQR7 0 genome.wustl.edu 37 1 26189653 26189653 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26189653 26189653 G A SNP PAQR7 ENST00000374296 human ensembl 74_37 -1 known silent c.678 p.F226 0.621 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR7 HGNC ENSG00000182749 69 0 0 36 21 36.8421 CNKSR1 0 genome.wustl.edu 37 1 26515144 26515144 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26515144 26515144 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known missense c.1667 p.T556I 0.759 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 32 0 0 26 14 35 CATSPER4 0 genome.wustl.edu 37 1 26526468 26526468 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26526468 26526468 C T SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known silent c.906 p.F302 0.974 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 34 0 0 20 13 39.3939 AIM1L 0 genome.wustl.edu 37 1 26664036 26664036 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26664036 26664036 C T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.1015 p.G339R 0.992 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 59 0 0 30 30 50 HMGN2 0 genome.wustl.edu 37 1 26801751 26801751 + RNA SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26801751 26801751 T A SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 16 0 0 21 11 34.375 HMGN2 0 genome.wustl.edu 37 1 26801752 26801752 + RNA SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26801752 26801752 T A SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 15 0 0 19 12 38.7097 PIGV 0 genome.wustl.edu 37 1 27121381 27121381 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27121381 27121381 C T SNP PIGV ENST00000078527 human ensembl 74_37 +1 known missense c.856 p.R286W 1.000 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 272 1 0.3663 160 111 40.9594 FAM46B 0 genome.wustl.edu 37 1 27332907 27332907 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27332907 27332907 C T SNP FAM46B ENST00000289166 human ensembl 74_37 -1 known missense c.806 p.R269H 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 34 0 0 27 11 28.9474 SMPDL3B 0 genome.wustl.edu 37 1 28280888 28280888 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 28280888 28280888 C T SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known missense c.541 p.P181S 0.899 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 186 0 0 97 62 38.9937 MED18 0 genome.wustl.edu 37 1 28661359 28661359 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 28661359 28661359 G A SNP MED18 ENST00000373842 human ensembl 74_37 +1 known missense c.505 p.V169M 0.999 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 103 0 0 61 28 31.4607 RCC1 0 genome.wustl.edu 37 1 28858344 28858344 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 28858344 28858344 G A SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.196 p.G66S 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 66 0 0 35 21 37.5 YTHDF2 0 genome.wustl.edu 37 1 29069012 29069012 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 29069012 29069012 C T SNP YTHDF2 ENST00000373812 human ensembl 74_37 +1 known missense c.230 p.T77M 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF2 HGNC ENSG00000198492 160 0 0 92 83 47.4286 KPNA6 0 genome.wustl.edu 37 1 32635587 32635587 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 32635587 32635587 G A SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.1364 p.R455Q 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 117 0 0 68 40 37.037 HDAC1 0 genome.wustl.edu 37 1 32793260 32793260 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 32793260 32793260 A G SNP HDAC1 ENST00000373548 human ensembl 74_37 +1 known silent c.618 p.P206 0.974 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 74 0 0 31 18 36.7347 TSSK3 0 genome.wustl.edu 37 1 32829430 32829430 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 32829430 32829430 G A SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.380 p.G127D 0.728 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TSSK3 HGNC ENSG00000162526 95 0 0 37 33 47.1429 PRDM16 0 genome.wustl.edu 37 1 3328984 3328984 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 3328984 3328984 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.2223 p.T741 0.998 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 82 0 0 33 29 46.7742 TRIM62 0 genome.wustl.edu 37 1 33612828 33612828 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 33612828 33612828 C T SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known missense c.1378 p.A460T 1.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 89 0 0 64 29 31.1828 ZSCAN20 0 genome.wustl.edu 37 1 33945006 33945006 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 33945006 33945006 G T SNP ZSCAN20 ENST00000361328 human ensembl 74_37 +1 known missense c.117 p.K39N 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN20 HGNC ENSG00000121903 56 0 0 40 27 40.2985 CSMD2 0 genome.wustl.edu 37 1 33999485 33999485 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 33999485 33999485 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.9902 p.R3301H 0.949 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 43 0 0 26 19 42.2222 CCDC27 0 genome.wustl.edu 37 1 3680038 3680038 + Nonsense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 3680038 3680038 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known nonsense c.1321 p.G441* 0.996 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 101 0 0 58 43 42.5743 MRPS15 0 genome.wustl.edu 37 1 36929762 36929762 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 36929762 36929762 C A SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.115 p.G39C 0.976 NULL pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 242 0 0 136 61 30.9645 GRIK3 0 genome.wustl.edu 37 1 37307454 37307454 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 37307454 37307454 C A SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.1413 p.K471N 0.990 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 188 0 0 103 51 33.1169 GRIK3 0 genome.wustl.edu 37 1 37337814 37337814 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 37337814 37337814 G C SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.707 p.T236S 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 40 0 0 15 13 46.4286 C1orf109 0 genome.wustl.edu 37 1 38152051 38152051 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 38152051 38152051 C T SNP C1orf109 ENST00000358011 human ensembl 74_37 -1 known missense c.349 p.A117T 0.111 NULL NULL - no_errors C1orf109 HGNC ENSG00000116922 38 0 0 22 10 31.25 MACF1 0 genome.wustl.edu 37 1 39812823 39812823 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 39812823 39812823 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.10867 p.A3623T 0.881 superfamily_RNaseH-like_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 85 0 0 38 15 28.3019 LEPRE1 0 genome.wustl.edu 37 1 43215907 43215907 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 43215907 43215907 G A SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.1670 p.T557M 0.736 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 28 0 0 14 11 44 CDC20 0 genome.wustl.edu 37 1 43828634 43828634 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 43828634 43828634 G A SNP CDC20 ENST00000310955 human ensembl 74_37 +1 known missense c.1334 p.R445Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20 HGNC ENSG00000117399 102 0 0 57 38 40 SZT2 0 genome.wustl.edu 37 1 43895417 43895417 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 43895417 43895417 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.4039 p.R1347C 0.691 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 105 0 0 36 35 49.2958 PTPRF 0 genome.wustl.edu 37 1 44071951 44071951 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 44071951 44071951 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.3524 p.R1175Q 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 113 1 0.877193 63 56 47.0588 ST3GAL3 0 genome.wustl.edu 37 1 44303915 44303915 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 44303915 44303915 C T SNP ST3GAL3 ENST00000262915 human ensembl 74_37 +1 known silent c.441 p.Y147 0.991 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 339 0 0 155 97 38.4921 IPO13 0 genome.wustl.edu 37 1 44415209 44415209 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 44415209 44415209 G A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.205 p.D69N 0.998 pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 41 0 0 27 21 43.75 DMAP1 0 genome.wustl.edu 37 1 44685868 44685868 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 44685868 44685868 G A SNP DMAP1 ENST00000315913 human ensembl 74_37 +1 known missense c.1231 p.A411T 0.009 NULL pfam_DMAP1,superfamily_Homeodomain-like - no_errors DMAP1 HGNC ENSG00000178028 23 0 0 8 4 33.3333 EIF2B3 0 genome.wustl.edu 37 1 45424490 45424490 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 45424490 45424490 G A SNP EIF2B3 ENST00000487532 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors EIF2B3 HGNC ENSG00000070785 40 0 0 29 18 38.2979 TESK2 0 genome.wustl.edu 37 1 45812673 45812673 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 45812673 45812673 G A SNP TESK2 ENST00000372086 human ensembl 74_37 -1 known missense c.770 p.P257L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK2 HGNC ENSG00000070759 70 0 0 46 25 35.2113 AJAP1 0 genome.wustl.edu 37 1 4832433 4832433 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 4832433 4832433 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1011 p.S337 0.091 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 39 0 0 32 14 30.4348 NRD1 0 genome.wustl.edu 37 1 52272560 52272560 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 52272560 52272560 G A SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known silent c.2220 p.F740 0.998 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 101 0 0 96 22 18.6441 NRD1 0 genome.wustl.edu 37 1 52285521 52285521 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 52285521 52285521 G A SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known silent c.1446 p.G482 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors NRD1 HGNC ENSG00000078618 19 0 0 20 13 39.3939 RAB3B 0 genome.wustl.edu 37 1 52403065 52403065 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 52403065 52403065 C T SNP RAB3B ENST00000371655 human ensembl 74_37 -1 known missense c.248 p.R83Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3B HGNC ENSG00000169213 160 0 0 84 55 39.5683 TACSTD2 0 genome.wustl.edu 37 1 59042093 59042093 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 59042093 59042093 C T SNP TACSTD2 ENST00000371225 human ensembl 74_37 -1 known missense c.736 p.V246M 0.982 NULL pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 20 0 0 14 7 33.3333 CHD5 0 genome.wustl.edu 37 1 6191747 6191747 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 6191747 6191747 C T SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.3206 p.R1069Q 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 57 0 0 31 25 44.6429 CACHD1 0 genome.wustl.edu 37 1 65145313 65145313 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 65145313 65145313 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.3280 p.A1094T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 117 0 0 46 34 42.5 KLHL21 0 genome.wustl.edu 37 1 6659390 6659390 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 6659390 6659390 C T SNP KLHL21 ENST00000377658 human ensembl 74_37 -1 known missense c.1144 p.G382R 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 53 0 0 30 17 36.1702 WLS 0 genome.wustl.edu 37 1 68564384 68564384 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 68564384 68564384 T G SNP WLS ENST00000540432 human ensembl 74_37 -1 known missense c.1569 p.E523D 0.011 NULL NULL - no_errors WLS HGNC ENSG00000116729 57 0 0 67 10 12.987 PTGER3 0 genome.wustl.edu 37 1 71513233 71513233 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 71513233 71513233 C T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.28 p.D10N 0.000 prints_EP3_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 12 0 0 3 3 50 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74954873 74954873 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 74954873 74954873 G C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.2464 p.G822R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_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 104 0 0 38 13 25.4902 CAMTA1 0 genome.wustl.edu 37 1 7798362 7798362 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 7798362 7798362 G T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4002 p.Q1334H 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 76 0 0 80 10 11.1111 RERE 0 genome.wustl.edu 37 1 8557484 8557484 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 8557484 8557484 T C SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.985 p.M329V 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 70 0 0 46 30 39.4737 HFM1 0 genome.wustl.edu 37 1 91843980 91843980 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 91843980 91843980 G A SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known nonsense c.1216 p.R406* 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 83 0 0 59 48 44.8598 CDC7 0 genome.wustl.edu 37 1 91989926 91989926 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 91989926 91989926 T C SNP CDC7 ENST00000234626 human ensembl 74_37 +1 known silent c.1659 p.N553 0.993 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 102 0 0 145 12 7.64331 TMEM56 0 genome.wustl.edu 37 1 95657235 95657235 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 95657235 95657235 C T SNP TMEM56 ENST00000370203 human ensembl 74_37 +1 novel silent c.603 p.S201 0.068 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM56 HGNC ENSG00000152078 170 0 0 102 77 43.0168 PIK3CD 0 genome.wustl.edu 37 1 9780197 9780197 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 9780197 9780197 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1262 p.T421M 0.998 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 66 0 0 35 32 47.7612 LPPR5 0 genome.wustl.edu 37 1 99470207 99470207 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 99470207 99470207 C T SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known silent c.21 p.A7 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 80 0 0 33 19 36.5385 PYROXD2 0 genome.wustl.edu 37 10 100157191 100157191 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 100157191 100157191 G A SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.536 p.A179V 0.260 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 86 0 0 41 23 35.9375 C10orf2 0 genome.wustl.edu 37 10 102749454 102749454 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 102749454 102749454 T C SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.1297 p.C433R 1.000 pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 90 0 0 51 46 47.4227 TLX1 0 genome.wustl.edu 37 10 102896546 102896546 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 102896546 102896546 C T SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known missense c.869 p.P290L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 71 0 0 38 36 48.6486 POLL 0 genome.wustl.edu 37 10 103339389 103339389 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 103339389 103339389 G A SNP POLL ENST00000299206 human ensembl 74_37 -1 known nonsense c.1549 p.R517* 0.995 smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC ENSG00000166169 90 0 0 63 42 40 NT5C2 0 genome.wustl.edu 37 10 104854154 104854154 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 104854154 104854154 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.872 p.R291Q 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 52 0 0 22 14 38.8889 ADD3 0 genome.wustl.edu 37 10 111882009 111882009 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 111882009 111882009 G A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.1102 p.E368K 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 63 0 0 58 32 35.5556 ADRA2A 0 genome.wustl.edu 37 10 112838876 112838876 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 112838876 112838876 G A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known silent c.1122 p.A374 0.993 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 15 0 0 13 16 55.1724 DCLRE1A 0 genome.wustl.edu 37 10 115608932 115608932 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 115608932 115608932 C T SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known silent c.1932 p.L644 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 205 0 0 131 99 43.0435 ADRB1 0 genome.wustl.edu 37 10 115804493 115804493 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 115804493 115804493 C T SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.602 p.A201V 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 26 0 0 19 14 42.4242 EMX2 0 genome.wustl.edu 37 10 119307775 119307775 + RNA SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 119307775 119307775 A C SNP EMX2 ENST00000546446 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors EMX2 HGNC ENSG00000170370 11 0 0 10 10 50 PPAPDC1A 0 genome.wustl.edu 37 10 122348837 122348837 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 122348837 122348837 C T SNP PPAPDC1A ENST00000398248 human ensembl 74_37 +1 known missense c.188 p.S63L 0.964 NULL NULL - no_errors PPAPDC1A HGNC ENSG00000203805 257 0 0 75 58 43.609 TACC2 0 genome.wustl.edu 37 10 123843946 123843946 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 123843946 123843946 C T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.1931 p.T644M 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 30 0 0 33 17 34 DMBT1 0 genome.wustl.edu 37 10 124390712 124390712 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 124390712 124390712 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.5874 p.T1958 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 142 0 0 53 44 45.3608 IKZF5 0 genome.wustl.edu 37 10 124754119 124754119 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 124754119 124754119 C T SNP IKZF5 ENST00000368886 human ensembl 74_37 -1 known missense c.437 p.R146H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 49 0 0 64 56 46.6667 CTBP2 0 genome.wustl.edu 37 10 126714834 126714834 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 126714834 126714834 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1495 p.A499T 0.009 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 66 0 0 26 35 57.377 MKI67 0 genome.wustl.edu 37 10 129902696 129902696 + Nonsense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 129902696 129902696 C A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known nonsense c.7408 p.E2470* 0.001 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 224 0 0 112 74 39.7849 OPTN 0 genome.wustl.edu 37 10 13154615 13154615 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 13154615 13154615 T G SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.532 p.F178V 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 134 0 0 56 46 45.098 TTC40 0 genome.wustl.edu 37 10 134671162 134671162 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 134671162 134671162 C T SNP TTC40 ENST00000368586 human ensembl 74_37 -1 putative missense c.5506 p.A1836T 0.033 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 34 0 0 22 12 35.2941 GPR123 0 genome.wustl.edu 37 10 134942441 134942441 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 134942441 134942441 C T SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.3266 p.A1089V 0.694 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 8 0 0 1 4 80 UTF1 0 genome.wustl.edu 37 10 135044937 135044937 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 135044937 135044937 G A SNP UTF1 ENST00000304477 human ensembl 74_37 +1 known silent c.1017 p.P339 0.005 NULL NULL - no_errors UTF1 HGNC ENSG00000171794 10 0 0 4 3 42.8571 TUBGCP2 0 genome.wustl.edu 37 10 135101642 135101642 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 135101642 135101642 G A SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.1797 p.D599 0.725 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 50 0 0 27 17 38.6364 SLC39A12 0 genome.wustl.edu 37 10 18276431 18276431 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 18276431 18276431 G A SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1120 p.V374I 0.989 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 78 0 0 54 6 10 MYO3A 0 genome.wustl.edu 37 10 26463094 26463094 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 26463094 26463094 A G SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.3901 p.M1301V 0.000 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 97 0 0 70 51 42.1488 PDSS1 0 genome.wustl.edu 37 10 26998620 26998620 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 26998620 26998620 T C SNP PDSS1 ENST00000376215 human ensembl 74_37 +1 known silent c.390 p.D130 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors PDSS1 HGNC ENSG00000148459 113 0 0 83 50 37.594 LRRC37A6P 0 genome.wustl.edu 37 10 27538338 27538338 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 27538338 27538338 G A SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.165 - - - no_errors LRRC37A6P HGNC ENSG00000230445 255 0 0 187 11 5.55556 MPP7 0 genome.wustl.edu 37 10 28378660 28378660 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 28378660 28378660 C T SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known missense c.1063 p.E355K 1.000 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 163 0 0 78 75 49.0196 SVIL 0 genome.wustl.edu 37 10 29782225 29782225 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 29782225 29782225 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.3937 p.R1313C 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 48 0 0 19 16 45.7143 ANKRD30A 0 genome.wustl.edu 37 10 37430911 37430911 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 37430911 37430911 G A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known silent c.918 p.T306 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 93 0 0 60 48 44.4444 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 62 0 0 48 12 20 ZNF488 0 genome.wustl.edu 37 10 48371037 48371037 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 48371037 48371037 C T SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known nonsense c.505 p.R169* 0.525 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 77 0 0 25 28 52.8302 ARHGAP22 0 genome.wustl.edu 37 10 49687682 49687682 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 49687682 49687682 C T SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.448 p.G150R 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 46 0 0 18 15 45.4545 SLC18A3 0 genome.wustl.edu 37 10 50819159 50819159 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 50819159 50819159 G T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.373 p.G125W 1.000 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 SLC18A3 HGNC ENSG00000187714 94 0 0 53 42 44.2105 A1CF 0 genome.wustl.edu 37 10 52570854 52570854 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 52570854 52570854 T C SNP A1CF ENST00000282641 human ensembl 74_37 -1 known missense c.1430 p.Q477R 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 41 0 0 29 17 36.9565 ANK3 0 genome.wustl.edu 37 10 61831671 61831671 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 61831671 61831671 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.8968 p.L2990 0.972 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 74 0 0 48 41 46.0674 RHOBTB1 0 genome.wustl.edu 37 10 62652608 62652608 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 62652608 62652608 C T SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known missense c.442 p.D148N 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 79 0 0 47 30 38.961 ARID5B 0 genome.wustl.edu 37 10 63852248 63852248 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 63852248 63852248 C G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.3026 p.A1009G 0.876 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 139 1 0.714286 76 34 30.9091 HERC4 0 genome.wustl.edu 37 10 69714858 69714858 + Missense_Mutation SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 69714858 69714858 A T SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.2079 p.N693K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 52 0 0 53 34 39.0805 SFMBT2 0 genome.wustl.edu 37 10 7269848 7269848 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 7269848 7269848 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known missense c.1172 p.A391V 0.877 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 89 0 0 34 20 37.037 PPP3CB 0 genome.wustl.edu 37 10 75239200 75239200 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 75239200 75239200 A G SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known missense c.161 p.V54A 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 130 0 0 88 67 43.2258 KAT6B 0 genome.wustl.edu 37 10 76744931 76744931 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 76744931 76744931 C T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.2467 p.P823S 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 64 0 0 37 30 44.7761 CDHR1 0 genome.wustl.edu 37 10 85974009 85974009 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 85974009 85974009 C T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.2212 p.R738W 0.979 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 86 0 0 52 48 48 LRIT1 0 genome.wustl.edu 37 10 85997322 85997322 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 85997322 85997322 G T SNP LRIT1 ENST00000372105 human ensembl 74_37 -1 known silent c.243 p.P81 0.049 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 48 0 0 18 8 30.7692 GRID1 0 genome.wustl.edu 37 10 87966268 87966268 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 87966268 87966268 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.373 p.R125C 0.926 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 60 0 0 31 29 48.3333 OPN4 0 genome.wustl.edu 37 10 88423538 88423538 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 88423538 88423538 C T SNP OPN4 ENST00000372071 human ensembl 74_37 +1 known silent c.1410 p.H470 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN4 HGNC ENSG00000122375 8 0 0 2 2 50 CYP26C1 0 genome.wustl.edu 37 10 94825964 94825964 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 94825964 94825964 C T SNP CYP26C1 ENST00000285949 human ensembl 74_37 +1 known silent c.1113 p.C371 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 12 0 0 4 4 50 CYP26A1 0 genome.wustl.edu 37 10 94834065 94834065 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 94834065 94834065 C T SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.190 p.R64W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 47 0 0 26 21 44.6809 ALDH18A1 0 genome.wustl.edu 37 10 97397084 97397084 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 97397084 97397084 C T SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.413 p.R138Q 1.000 pfam_Asp/Glu/Uridylate_kinase,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 93 0 0 60 28 31.8182 UBTD1 0 genome.wustl.edu 37 10 99330045 99330045 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 99330045 99330045 C A SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.449 p.P150Q 0.777 pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 47 0 0 34 23 40.3509 CWF19L2 0 genome.wustl.edu 37 11 107224389 107224389 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 107224389 107224389 C T SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.1946 p.R649H 0.262 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 103 0 0 50 26 34.2105 MUC2 0 genome.wustl.edu 37 11 1092334 1092334 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1092334 1092334 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.4153 p.R1385C 0.017 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 12 0 0 5 5 50 ZC3H12C 0 genome.wustl.edu 37 11 110036179 110036179 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 110036179 110036179 G A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.2369 p.R790Q 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 83 0 0 50 37 42.5287 SIK2 0 genome.wustl.edu 37 11 111594685 111594685 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 111594685 111594685 A G SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known silent c.2613 p.G871 0.994 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 20 0 0 17 15 46.875 DIXDC1 0 genome.wustl.edu 37 11 111855970 111855970 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 111855970 111855970 T C SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known silent c.930 p.N310 0.999 NULL pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 26 0 0 17 7 29.1667 DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 111904183 111904183 A G SNP DLAT ENST00000280346 human ensembl 74_37 +1 known missense c.716 p.E239G 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 68 0 0 29 11 27.5 SIDT2 0 genome.wustl.edu 37 11 117059506 117059506 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 117059506 117059506 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.1305 p.T435 0.313 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 122 0 0 62 34 35.4167 TMPRSS4 0 genome.wustl.edu 37 11 117982547 117982547 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 117982547 117982547 C T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known silent c.675 p.D225 0.004 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 65 0 0 70 5 6.66667 KMT2A 0 genome.wustl.edu 37 11 118344530 118344530 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 118344530 118344530 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.2656 p.R886W 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 69 0 0 31 22 41.5094 PHLDB1 0 genome.wustl.edu 37 11 118527419 118527419 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 118527419 118527419 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known silent c.4020 p.C1340 0.961 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 78 0 0 38 25 39.6825 ABCG4 0 genome.wustl.edu 37 11 119031362 119031362 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 119031362 119031362 G A SNP ABCG4 ENST00000307417 human ensembl 74_37 +1 known missense c.1711 p.V571I 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ENSG00000172350 225 0 0 86 74 46.25 RNF26 0 genome.wustl.edu 37 11 119207088 119207088 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 119207088 119207088 C T SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.1256 p.P419L 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 68 0 0 39 19 32.7586 TRIM29 0 genome.wustl.edu 37 11 120008518 120008518 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 120008518 120008518 C T SNP TRIM29 ENST00000341846 human ensembl 74_37 -1 known silent c.222 p.E74 0.942 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 222 0 0 169 20 10.582 SORL1 0 genome.wustl.edu 37 11 121393406 121393406 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 121393406 121393406 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.1516 p.A506T 1.000 smart_VPS10 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 161 0 0 78 58 42.6471 SNORD14D 0 genome.wustl.edu 37 11 122929690 122929690 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 122929690 122929690 C T SNP SNORD14D ENST00000384390 human ensembl 74_37 -1 known rna NULL NULL 0.493 - - - no_errors SNORD14D HGNC ENSG00000207118 17 0 0 16 7 30.4348 OR10G7 0 genome.wustl.edu 37 11 123909320 123909320 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 123909320 123909320 C A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known missense c.389 p.R130M 1.000 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 OR10G7 HGNC ENSG00000182634 105 0 0 21 108 83.7209 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 126137087 126137087 T C SNP SRPR ENST00000332118 human ensembl 74_37 -1 known missense c.509 p.K170R 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 261 1 0.381679 139 118 45.9144 KIRREL3 0 genome.wustl.edu 37 11 126333072 126333072 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 126333072 126333072 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.722 p.S241L 0.962 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 51 0 0 28 13 31.7073 MUC5B 0 genome.wustl.edu 37 11 1270971 1270971 + Silent SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1270971 1270971 C G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.12870 p.T4290 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 136 0 0 77 32 29.3578 MUC5B 0 genome.wustl.edu 37 11 1270982 1270982 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1270982 1270982 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12881 p.A4294V 0.169 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 138 0 0 74 22 22.9167 MUC5B 0 genome.wustl.edu 37 11 1270989 1270989 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1270989 1270989 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.12888 p.S4296 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 136 0 0 71 18 20.2247 MUC5B 0 genome.wustl.edu 37 11 1271083 1271083 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1271083 1271083 C G SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12982 p.P4328A 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 165 0 0 67 27 28.7234 APLP2 0 genome.wustl.edu 37 11 129980502 129980502 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 129980502 129980502 C T SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.349 p.R117W 1.000 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 53 0 0 40 36 47.3684 B3GAT1 0 genome.wustl.edu 37 11 134257541 134257541 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 134257541 134257541 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.52 p.R18W 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 37 0 0 18 15 45.4545 ABCC8 0 genome.wustl.edu 37 11 17482133 17482133 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 17482133 17482133 A G SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.913 p.F305L 0.998 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 115 1 0.862069 58 43 42.5743 HPS5 0 genome.wustl.edu 37 11 18303557 18303557 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18303557 18303557 T G SNP HPS5 ENST00000349215 human ensembl 74_37 -1 known missense c.3269 p.E1090A 0.160 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 119 0 0 127 8 5.92593 TSG101 0 genome.wustl.edu 37 11 18531130 18531130 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18531130 18531130 G A SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.440 p.S147L 1.000 NULL pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 124 0 0 52 55 51.4019 TSG101 0 genome.wustl.edu 37 11 18531132 18531132 + Silent SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18531132 18531132 A T SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known silent c.438 p.I146 0.884 NULL pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 124 0 0 53 54 50.4673 IGSF22 0 genome.wustl.edu 37 11 18731162 18731162 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18731162 18731162 G A SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.2770 p.R924W 0.934 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 48 0 0 26 17 39.5349 IGSF22 0 genome.wustl.edu 37 11 18736102 18736102 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18736102 18736102 C T SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.1601 p.C534Y 0.525 smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 115 0 0 48 33 40.7407 PTPN5 0 genome.wustl.edu 37 11 18763909 18763909 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 18763909 18763909 C T SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.625 p.D209N 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 67 0 0 38 15 28.3019 DBX1 0 genome.wustl.edu 37 11 20177913 20177913 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 20177913 20177913 C T SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known silent c.996 p.A332 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 25 0 0 22 26 54.1667 ANO3 0 genome.wustl.edu 37 11 26558959 26558959 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 26558959 26558959 G A SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.983 p.R328H 0.997 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 96 0 0 61 51 45.5357 DCDC1 0 genome.wustl.edu 37 11 30921956 30921956 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 30921956 30921956 G T SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.1828 p.L610I 0.000 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 15 0 0 11 7 38.8889 DCDC1 0 genome.wustl.edu 37 11 30946902 30946902 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 30946902 30946902 T C SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.188 p.K63R 0.975 pfscan_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 230 1 0.4329 86 57 39.8601 MRGPRE 0 genome.wustl.edu 37 11 3249838 3249838 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 3249838 3249838 G A SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known silent c.192 p.D64 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 90 0 0 56 44 44 B4GALNT4 0 genome.wustl.edu 37 11 373457 373457 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 373457 373457 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.645 p.S215 0.121 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 76 0 0 36 16 30.7692 PKP3 0 genome.wustl.edu 37 11 403637 403637 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 403637 403637 G A SNP PKP3 ENST00000331563 human ensembl 74_37 +1 known missense c.1943 p.R648H 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 43 0 0 25 26 50.9804 OR52K1 0 genome.wustl.edu 37 11 4510486 4510486 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 4510486 4510486 C A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.356 p.A119D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 43 0 0 35 18 33.9623 HARBI1 0 genome.wustl.edu 37 11 46625304 46625304 + Nonsense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 46625304 46625304 C A SNP HARBI1 ENST00000326737 human ensembl 74_37 -1 known nonsense c.826 p.G276* 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 44 0 0 23 12 34.2857 PTPRJ 0 genome.wustl.edu 37 11 48171665 48171665 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 48171665 48171665 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3068 p.V1023A 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 51 0 0 87 5 5.43478 RNH1 0 genome.wustl.edu 37 11 494953 494953 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 494953 494953 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known silent c.1228 p.L410 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 13 0 0 5 7 58.3333 OR52A5 0 genome.wustl.edu 37 11 5153517 5153517 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 5153517 5153517 G A SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.356 p.A119V 0.036 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 44 0 0 35 22 38.5965 OR51B2 0 genome.wustl.edu 37 11 5345106 5345106 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 5345106 5345106 G A SNP OR51B2 ENST00000328813 human ensembl 74_37 -1 known missense c.422 p.A141V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B2 HGNC ENSG00000184881 67 0 0 78 63 44.6809 TRIM51 0 genome.wustl.edu 37 11 55653152 55653152 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 55653152 55653152 G T SNP TRIM51 ENST00000449290 human ensembl 74_37 +1 known missense c.248 p.R83L 0.003 NULL 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 30 0 0 20 15 42.8571 TRIM5 0 genome.wustl.edu 37 11 5686300 5686300 + Silent SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 5686300 5686300 T G SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known silent c.1221 p.G407 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 130 0 0 85 62 42.1769 CTNND1 0 genome.wustl.edu 37 11 57583474 57583474 + Splice_Site SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 57583474 57583474 G A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known splice_site c.2895+1 e18+1 1.000 - - - no_errors CTNND1 HGNC ENSG00000198561 29 0 0 8 2 20 OR10Q1 0 genome.wustl.edu 37 11 57995911 57995911 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 57995911 57995911 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.437 p.T146M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 38 0 0 29 26 47.2727 CCDC86 0 genome.wustl.edu 37 11 60610001 60610001 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 60610001 60610001 C A SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.404 p.A135D 0.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 96 0 0 44 28 38.8889 TMEM132A 0 genome.wustl.edu 37 11 60702091 60702091 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 60702091 60702091 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1694 p.R565H 0.996 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 16 0 0 3 2 40 CD6 0 genome.wustl.edu 37 11 60785823 60785823 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 60785823 60785823 C T SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1900 p.P634S 0.981 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 20 0 0 8 4 33.3333 CDHR5 0 genome.wustl.edu 37 11 621813 621813 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 621813 621813 T A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.404 p.E135V 0.996 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 50 0 0 34 20 37.037 OR52W1 0 genome.wustl.edu 37 11 6220577 6220577 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6220577 6220577 C T SNP OR52W1 ENST00000311352 human ensembl 74_37 +1 known silent c.124 p.L42 0.350 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC ENSG00000175485 48 0 0 25 30 54.5455 LRRN4CL 0 genome.wustl.edu 37 11 62455516 62455516 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 62455516 62455516 G A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known silent c.465 p.A155 0.010 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 32 0 0 18 12 40 CCKBR 0 genome.wustl.edu 37 11 6292284 6292284 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6292284 6292284 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.1062 p.A354 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 83 0 0 46 33 41.7722 SLC22A12 0 genome.wustl.edu 37 11 64359056 64359056 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64359056 64359056 G A SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.28 p.V10M 0.956 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 121 0 0 66 41 38.3178 NRXN2 0 genome.wustl.edu 37 11 64397948 64397948 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64397948 64397948 A G SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.3683 p.V1228A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 83 0 0 39 28 41.791 NRXN2 0 genome.wustl.edu 37 11 64410059 64410059 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64410059 64410059 C T SNP NRXN2 ENST00000301894 human ensembl 74_37 -1 novel missense c.217 p.V73M 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 23 0 0 10 6 37.5 RASGRP2 0 genome.wustl.edu 37 11 64509498 64509498 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64509498 64509498 C T SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.160 p.A54T 0.053 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 20 0 0 5 6 54.5455 CAPN1 0 genome.wustl.edu 37 11 64972271 64972271 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64972271 64972271 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1283 p.R428H 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 62 0 0 34 26 43.3333 AP5B1 0 genome.wustl.edu 37 11 65546371 65546371 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 65546371 65546371 C T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel silent c.1593 p.P531 0.000 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 25 0 0 15 10 40 RRP8 0 genome.wustl.edu 37 11 6622581 6622581 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6622581 6622581 G A SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known nonsense c.715 p.R239* 0.939 pfam_Methyltransferase-rel pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 33 0 0 15 15 50 ZDHHC24 0 genome.wustl.edu 37 11 66313303 66313303 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 66313303 66313303 C T SNP ZDHHC24 ENST00000310442 human ensembl 74_37 -1 known missense c.172 p.A58T 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC24 HGNC ENSG00000174165 10 0 0 3 2 40 TPP1 0 genome.wustl.edu 37 11 6637718 6637718 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6637718 6637718 C A SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.903 p.Q301H 1.000 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 16 0 0 15 15 50 RBM14 0 genome.wustl.edu 37 11 66391987 66391987 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 66391987 66391987 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.640 p.R214C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 60 0 0 55 6 9.83607 CARNS1 0 genome.wustl.edu 37 11 67192057 67192057 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 67192057 67192057 G A SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known silent c.2838 p.L946 1.000 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 12 0 0 12 5 29.4118 PITPNM1 0 genome.wustl.edu 37 11 67260427 67260427 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 67260427 67260427 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.3449 p.R1150Q 0.995 pfam_LNS2,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 131 0 0 43 39 47.561 SUV420H1 0 genome.wustl.edu 37 11 67925165 67925165 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 67925165 67925165 A C SNP SUV420H1 ENST00000304363 human ensembl 74_37 -1 known missense c.2648 p.L883R 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H1 HGNC ENSG00000110066 57 0 0 32 21 39.6226 MRGPRD 0 genome.wustl.edu 37 11 68748126 68748126 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 68748126 68748126 T C SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known silent c.330 p.T110 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 46 0 0 46 4 8 MYEOV 0 genome.wustl.edu 37 11 69063147 69063147 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 69063147 69063147 G A SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.230 p.R77Q 0.001 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 98 0 0 63 24 27.5862 CCND1 0 genome.wustl.edu 37 11 69456219 69456219 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 69456219 69456219 A G SNP CCND1 ENST00000227507 human ensembl 74_37 +1 known silent c.138 p.K46 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 101 0 0 59 30 33.7079 NUMA1 0 genome.wustl.edu 37 11 71726294 71726294 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 71726294 71726294 C T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.2255 p.R752Q 0.192 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 77 0 0 39 40 50.6329 INPPL1 0 genome.wustl.edu 37 11 71948327 71948327 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 71948327 71948327 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known silent c.3039 p.T1013 0.974 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 142 0 0 78 38 32.7586 PLEKHB1 0 genome.wustl.edu 37 11 73364059 73364059 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 73364059 73364059 G A SNP PLEKHB1 ENST00000354190 human ensembl 74_37 +1 known silent c.390 p.P130 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB1 HGNC ENSG00000021300 18 0 0 8 6 42.8571 MOGAT2 0 genome.wustl.edu 37 11 75438572 75438572 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 75438572 75438572 G A SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known silent c.363 p.L121 1.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 87 0 0 101 9 8.18182 WNT11 0 genome.wustl.edu 37 11 75902892 75902892 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 75902892 75902892 G A SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known silent c.606 p.R202 0.830 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 30 0 0 21 17 44.7368 OMP 0 genome.wustl.edu 37 11 76814001 76814001 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 76814001 76814001 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.116 p.R39H 0.999 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 57 0 0 28 15 34.8837 PDDC1 0 genome.wustl.edu 37 11 771068 771068 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 771068 771068 C T SNP PDDC1 ENST00000319863 human ensembl 74_37 -1 known missense c.581 p.R194H 1.000 pfam_ThiJ/PfpI pfam_ThiJ/PfpI - no_errors PDDC1 HGNC ENSG00000177225 12 0 0 16 10 38.4615 TENM4 0 genome.wustl.edu 37 11 78412977 78412977 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 78412977 78412977 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.4681 p.R1561W 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 91 0 0 58 39 40.2062 NLRP10 0 genome.wustl.edu 37 11 7982663 7982663 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 7982663 7982663 G C SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.496 p.P166A 0.306 superfamily_P-loop_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 47 0 0 32 26 44.8276 RAB30 0 genome.wustl.edu 37 11 82693314 82693314 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 82693314 82693314 G A SNP RAB30 ENST00000260056 human ensembl 74_37 -1 known nonsense c.505 p.R169* 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB30 HGNC ENSG00000137502 105 0 0 75 42 35.8974 DLG2 0 genome.wustl.edu 37 11 83544674 83544674 + Nonsense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 83544674 83544674 C A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known nonsense c.1705 p.G569* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 92 0 0 56 33 37.0787 SYTL2 0 genome.wustl.edu 37 11 85436343 85436343 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 85436343 85436343 G A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.2729 p.S910L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 53 0 0 35 38 52.0548 EED 0 genome.wustl.edu 37 11 85979585 85979585 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 85979585 85979585 C T SNP EED ENST00000263360 human ensembl 74_37 +1 known silent c.948 p.G316 0.999 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 151 0 0 84 42 33.3333 FAT3 0 genome.wustl.edu 37 11 92532189 92532189 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 92532189 92532189 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6010 p.V2004I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 180 0 0 98 55 35.9477 FAT3 0 genome.wustl.edu 37 11 92599971 92599971 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 92599971 92599971 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.11723 p.S3908L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 30 0 0 6 10 62.5 FAT3 0 genome.wustl.edu 37 11 92600059 92600059 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 92600059 92600059 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.11811 p.Y3937 0.996 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 45 0 0 22 11 33.3333 MTNR1B 0 genome.wustl.edu 37 11 92714707 92714707 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 92714707 92714707 G A SNP MTNR1B ENST00000257068 human ensembl 74_37 +1 known nonsense c.318 p.W106* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt - no_errors MTNR1B HGNC ENSG00000134640 214 0 0 112 74 39.7849 MED17 0 genome.wustl.edu 37 11 93530716 93530716 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 93530716 93530716 T C SNP MED17 ENST00000251871 human ensembl 74_37 +1 known silent c.1159 p.L387 1.000 pfam_Mediator_Med17 pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 83 0 0 92 5 5.15464 AMOTL1 0 genome.wustl.edu 37 11 94554713 94554713 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 94554713 94554713 C T SNP AMOTL1 ENST00000433060 human ensembl 74_37 +1 known missense c.1139 p.P380L 0.975 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 20 0 0 17 5 22.7273 MTMR2 0 genome.wustl.edu 37 11 95580917 95580917 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 95580917 95580917 C A SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known missense c.1140 p.L380F 0.999 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 88 0 0 57 38 40 STAB2 0 genome.wustl.edu 37 12 104048390 104048390 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 104048390 104048390 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.1465 p.G489W 0.544 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 62 0 0 41 29 41.4286 EID3 0 genome.wustl.edu 37 12 104698248 104698248 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 104698248 104698248 G A SNP EID3 ENST00000527879 human ensembl 74_37 +1 known missense c.536 p.R179H 0.000 pfam_Nse4_C pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 175 0 0 90 73 44.7853 YBX3 0 genome.wustl.edu 37 12 10854623 10854623 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 10854623 10854623 C T SNP YBX3 ENST00000228251 human ensembl 74_37 -1 known missense c.989 p.R330Q 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX3 HGNC ENSG00000060138 164 0 0 143 11 7.14286 SSH1 0 genome.wustl.edu 37 12 109201572 109201572 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 109201572 109201572 C T SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.568 p.E190K 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 53 0 0 6 40 86.9565 DAO 0 genome.wustl.edu 37 12 109293174 109293174 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 109293174 109293174 C T SNP DAO ENST00000228476 human ensembl 74_37 +1 known nonsense c.835 p.R279* 0.006 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 22 0 0 6 27 81.8182 HECTD4 0 genome.wustl.edu 37 12 112673511 112673511 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 112673511 112673511 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.5006 p.P1669Q 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 37 0 0 20 17 45.9459 RPH3A 0 genome.wustl.edu 37 12 113321126 113321126 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 113321126 113321126 G A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1355 p.R452Q 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 42 0 0 3 25 89.2857 OAS3 0 genome.wustl.edu 37 12 113405771 113405771 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 113405771 113405771 C A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.2896 p.L966I 0.664 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 54 0 0 32 24 42.8571 WSB2 0 genome.wustl.edu 37 12 118480690 118480690 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 118480690 118480690 G A SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.515 p.A172V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 162 0 0 81 54 40 CIT 0 genome.wustl.edu 37 12 120150099 120150099 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 120150099 120150099 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.4612 p.G1538R 1.000 smart_Pleckstrin_homology,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 249 0 0 136 127 48.289 RNF10 0 genome.wustl.edu 37 12 121013442 121013442 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 121013442 121013442 G T SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.2166 p.R722S 0.986 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 136 0 0 11 81 88.0435 RNF34 0 genome.wustl.edu 37 12 121868063 121868063 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 121868063 121868063 G A SNP RNF34 ENST00000392464 human ensembl 74_37 +1 putative silent c.1290 p.P430 0.016 NULL superfamily_Znf_FYVE_PHD - no_errors RNF34 HGNC ENSG00000170633 83 0 0 46 39 45.8824 CLIP1 0 genome.wustl.edu 37 12 122757436 122757436 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 122757436 122757436 C T SNP CLIP1 ENST00000540338 human ensembl 74_37 -1 known missense c.4303 p.D1435N 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 96 0 0 15 76 83.5165 DNAH10 0 genome.wustl.edu 37 12 124403311 124403311 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 124403311 124403311 C G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.10967 p.A3656G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 52 0 0 3 25 89.2857 EP400 0 genome.wustl.edu 37 12 132547132 132547132 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 132547132 132547132 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8328 p.Q2776 0.957 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 64 0 0 48 5 9.43396 WNT5B 0 genome.wustl.edu 37 12 1748958 1748958 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 1748958 1748958 C T SNP WNT5B ENST00000310594 human ensembl 74_37 +1 known missense c.437 p.T146M 0.880 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 27 0 0 9 11 55 ADIPOR2 0 genome.wustl.edu 37 12 1893046 1893046 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 1893046 1893046 G A SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known missense c.839 p.G280E 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 61 0 0 25 22 46.8085 PLEKHA5 0 genome.wustl.edu 37 12 19427533 19427533 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 19427533 19427533 T C SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known missense c.911 p.I304T 0.600 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 70 0 0 37 22 37.2881 SLCO1C1 0 genome.wustl.edu 37 12 20903827 20903827 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 20903827 20903827 A G SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.2017 p.K673E 0.003 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 30 0 0 19 11 36.6667 RECQL 0 genome.wustl.edu 37 12 21644542 21644542 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 21644542 21644542 A G SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.125 p.L42P 0.362 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 52 0 0 27 22 44.898 KCNJ8 0 genome.wustl.edu 37 12 21926431 21926431 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 21926431 21926431 G A SNP KCNJ8 ENST00000240662 human ensembl 74_37 -1 known silent c.120 p.S40 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1 - no_errors KCNJ8 HGNC ENSG00000121361 96 0 0 58 38 39.5833 ITPR2 0 genome.wustl.edu 37 12 26749969 26749969 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 26749969 26749969 A G SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.4101 p.D1367 0.996 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 91 0 0 67 54 44.6281 FGFR1OP2 0 genome.wustl.edu 37 12 27113510 27113510 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 27113510 27113510 T C SNP FGFR1OP2 ENST00000229395 human ensembl 74_37 +1 known silent c.459 p.L153 1.000 superfamily_DNA-bd_dom_put pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 57 0 0 30 30 50 PPFIBP1 0 genome.wustl.edu 37 12 27824371 27824371 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 27824371 27824371 C G SNP PPFIBP1 ENST00000318304 human ensembl 74_37 +1 known missense c.1205 p.T402S 0.951 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 60 0 0 34 23 40.3509 LRRK2 0 genome.wustl.edu 37 12 40728880 40728880 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 40728880 40728880 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5869 p.R1957C 0.991 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 85 0 0 52 4 7.14286 TWF1 0 genome.wustl.edu 37 12 44193205 44193205 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 44193205 44193205 T A SNP TWF1 ENST00000325127 human ensembl 74_37 -1 known missense c.581 p.N194I 0.999 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors TWF1 HGNC ENSG00000151239 20 0 0 9 12 57.1429 FGF23 0 genome.wustl.edu 37 12 4479543 4479543 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 4479543 4479543 G A SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known missense c.722 p.P241L 0.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 100 0 0 48 39 44.8276 RAD51AP1 0 genome.wustl.edu 37 12 4662161 4662161 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 4662161 4662161 A G SNP RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known missense c.620 p.E207G 0.807 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 50 0 0 28 18 39.1304 VDR 0 genome.wustl.edu 37 12 48272749 48272749 + Splice_Site SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 48272749 48272749 A G SNP VDR ENST00000229022 human ensembl 74_37 -1 known splice_site c.146+2 e1+2 1.000 - - - no_errors VDR HGNC ENSG00000111424 75 0 0 19 16 45.7143 COL2A1 0 genome.wustl.edu 37 12 48380862 48380862 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 48380862 48380862 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.1364 p.T455M 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 99 0 0 48 32 40 KMT2D 0 genome.wustl.edu 37 12 49445674 49445674 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 49445674 49445674 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.1792 p.R598C 0.120 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 133 0 0 12 85 87.6289 ACVR1B 0 genome.wustl.edu 37 12 52380676 52380676 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 52380676 52380676 A G SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.1211 p.Y404C 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 149 0 0 17 88 83.8095 NR4A1 0 genome.wustl.edu 37 12 52452493 52452493 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 52452493 52452493 C T SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.1724 p.P575L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt 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_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 8 0 0 12 6 33.3333 LOC100127967 0 genome.wustl.edu 37 12 53004637 53004637 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 53004637 53004637 C T SNP LOC100127967 ENST00000552364 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000257495 43 0 0 23 4 14.8148 AMHR2 0 genome.wustl.edu 37 12 53819659 53819659 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 53819659 53819659 C T SNP AMHR2 ENST00000257863 human ensembl 74_37 +1 known missense c.808 p.R270C 0.315 pirsf_Anti-muellerian_hrmn_rcpt_II,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 pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AMHR2 HGNC ENSG00000135409 57 0 0 8 48 85.7143 MAP3K12 0 genome.wustl.edu 37 12 53876800 53876800 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 53876800 53876800 C T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.1688 p.R563H 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 35 0 0 10 30 75 OR6C70 0 genome.wustl.edu 37 12 55863642 55863642 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 55863642 55863642 C T SNP OR6C70 ENST00000327335 human ensembl 74_37 -1 known missense c.281 p.G94D 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C70 HGNC ENSG00000184954 41 0 0 10 70 87.5 BLOC1S1 0 genome.wustl.edu 37 12 56113331 56113331 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 56113331 56113331 C T SNP BLOC1S1 ENST00000548925 human ensembl 74_37 +1 known missense c.400 p.R134C 1.000 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 80 0 0 41 18 30.5085 RNF41 0 genome.wustl.edu 37 12 56604256 56604256 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 56604256 56604256 C T SNP RNF41 ENST00000345093 human ensembl 74_37 -1 known missense c.187 p.A63T 1.000 pfam_Ubox_domain pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 60 0 0 13 33 71.7391 STAC3 0 genome.wustl.edu 37 12 57637988 57637988 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 57637988 57637988 G A SNP STAC3 ENST00000557176 human ensembl 74_37 -1 known missense c.254 p.S85L 0.450 NULL NULL - no_errors STAC3 HGNC ENSG00000185482 38 0 0 8 49 85.9649 GLI1 0 genome.wustl.edu 37 12 57865760 57865760 + Silent SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 57865760 57865760 G C SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known silent c.3237 p.G1079 0.977 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 131 0 0 14 86 86 METTL21B 0 genome.wustl.edu 37 12 58174093 58174093 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 58174093 58174093 C T SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known silent c.345 p.N115 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 51 0 0 9 46 83.6364 ATN1 0 genome.wustl.edu 37 12 7045909 7045909 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 7045909 7045909 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1479 p.Q493 0.799 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 162 0 0 131 20 13.245 ATN1 0 genome.wustl.edu 37 12 7045921 7045921 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 7045921 7045921 G T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1491 p.Q497H 0.298 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 138 0 0 122 15 10.9489 KCNMB4 0 genome.wustl.edu 37 12 70760700 70760700 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 70760700 70760700 C T SNP KCNMB4 ENST00000258111 human ensembl 74_37 +1 known silent c.186 p.I62 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB4 HGNC ENSG00000135643 55 0 0 30 33 52.381 LPCAT3 0 genome.wustl.edu 37 12 7086569 7086569 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 7086569 7086569 A G SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.1307 p.M436T 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 76 0 0 36 30 45.4545 PTPRB 0 genome.wustl.edu 37 12 70960486 70960486 + Splice_Site SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 70960486 70960486 T C SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known splice_site c.3635-2 e15-2 1.000 - - - no_errors PTPRB HGNC ENSG00000127329 109 0 0 72 5 6.49351 C1R 0 genome.wustl.edu 37 12 7242710 7242710 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 7242710 7242710 G A SNP C1R ENST00000543362 human ensembl 74_37 -1 known silent c.366 p.N122 0.037 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1R HGNC ENSG00000159403 23 0 0 12 10 45.4545 FOXJ2 0 genome.wustl.edu 37 12 8200544 8200544 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 8200544 8200544 C A SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known missense c.884 p.P295Q 0.048 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 61 0 0 54 6 10 CEP290 0 genome.wustl.edu 37 12 88480176 88480176 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 88480176 88480176 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.4300 p.A1434T 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 17 0 0 0 8 100 A2ML1 0 genome.wustl.edu 37 12 9004599 9004599 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 9004599 9004599 T C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.2454 p.D818 0.976 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 160 0 0 83 64 43.5374 EEA1 0 genome.wustl.edu 37 12 93170683 93170683 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 93170683 93170683 G A SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known silent c.4050 p.A1350 0.968 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 149 0 0 23 102 81.6 BIVM 0 genome.wustl.edu 37 13 103459927 103459927 + Missense_Mutation SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 103459927 103459927 A T SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.310 p.N104Y 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 108 0 0 52 39 42.8571 ERCC5 0 genome.wustl.edu 37 13 103514378 103514378 + Splice_Site SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 103514378 103514378 A C SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known splice_site c.881-2 e8-2 0.995 - - - no_errors ERCC5 HGNC ENSG00000134899 135 0 0 85 70 45.1613 FAM155A 0 genome.wustl.edu 37 13 108518130 108518130 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 108518130 108518130 T G SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.815 p.D272A 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 132 0 0 62 52 45.614 MYO16 0 genome.wustl.edu 37 13 109792754 109792754 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 109792754 109792754 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.4128 p.P1376 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 18 0 0 7 10 58.8235 IRS2 0 genome.wustl.edu 37 13 110434725 110434725 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 110434725 110434725 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.3676 p.G1226R 0.024 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 16 0 0 12 9 42.8571 ATP11A 0 genome.wustl.edu 37 13 113505388 113505388 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 113505388 113505388 T C SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.1847 p.L616P 0.523 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 128 0 0 54 43 44.3299 MCF2L 0 genome.wustl.edu 37 13 113699563 113699563 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 113699563 113699563 C T SNP MCF2L ENST00000480321 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MCF2L HGNC ENSG00000126217 67 0 0 33 15 31.25 TFDP1 0 genome.wustl.edu 37 13 114286057 114286057 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 114286057 114286057 C T SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known silent c.306 p.A102 0.994 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 56 0 0 36 22 37.931 SACS 0 genome.wustl.edu 37 13 23910913 23910913 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 23910913 23910913 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.7102 p.A2368T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 48 0 0 35 29 45.3125 SACS 0 genome.wustl.edu 37 13 23911667 23911667 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 23911667 23911667 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.6348 p.P2116 0.998 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 50 0 0 40 29 42.029 RNF17 0 genome.wustl.edu 37 13 25374553 25374553 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 25374553 25374553 G A SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.1639 p.A547T 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 122 0 0 61 30 32.967 WASF3 0 genome.wustl.edu 37 13 27254312 27254312 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 27254312 27254312 C T SNP WASF3 ENST00000361042 human ensembl 74_37 +1 known silent c.681 p.S227 0.952 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 48 0 0 13 15 53.5714 SUPT20H 0 genome.wustl.edu 37 13 37598274 37598274 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 37598274 37598274 G A SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.1489 p.P497S 1.000 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 51 0 0 37 22 37.2881 FREM2 0 genome.wustl.edu 37 13 39266382 39266382 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 39266382 39266382 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.4901 p.T1634M 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 106 0 0 68 51 42.8571 COG6 0 genome.wustl.edu 37 13 40229920 40229920 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 40229920 40229920 C T SNP COG6 ENST00000455146 human ensembl 74_37 +1 known silent c.57 p.G19 0.821 NULL pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 10 0 0 8 3 27.2727 KIAA0226L 0 genome.wustl.edu 37 13 46933764 46933764 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 46933764 46933764 G A SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known silent c.1122 p.V374 0.004 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 13 0 0 8 4 33.3333 PCDH8 0 genome.wustl.edu 37 13 53421053 53421053 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 53421053 53421053 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.1519 p.R507C 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 8 0 0 2 2 50 PCDH17 0 genome.wustl.edu 37 13 58207580 58207580 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 58207580 58207580 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.900 p.T300 0.490 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 57 0 0 25 25 50 PCDH17 0 genome.wustl.edu 37 13 58208476 58208476 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 58208476 58208476 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1796 p.R599H 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 37 0 0 30 26 46.4286 POU4F1 0 genome.wustl.edu 37 13 79175961 79175961 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 79175961 79175961 G A SNP POU4F1 ENST00000377208 human ensembl 74_37 -1 known silent c.849 p.G283 0.995 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F1 HGNC ENSG00000152192 21 0 0 10 4 28.5714 DCT 0 genome.wustl.edu 37 13 95131418 95131418 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 95131418 95131418 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.92 p.T31M 0.999 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 45 0 0 31 23 42.5926 HS6ST3 0 genome.wustl.edu 37 13 96743241 96743241 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 96743241 96743241 G A SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.125 p.R42H 0.987 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 32 0 0 4 5 55.5556 DOCK9 0 genome.wustl.edu 37 13 99505676 99505676 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 99505676 99505676 T G SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.3935 p.K1312T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 212 0 0 108 89 45.1777 PPP2R5C 0 genome.wustl.edu 37 14 102378839 102378839 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 102378839 102378839 G A SNP PPP2R5C ENST00000556218 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP2R5C HGNC ENSG00000078304 67 0 0 35 25 41.6667 HSP90AA1 0 genome.wustl.edu 37 14 102550309 102550309 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 102550309 102550309 C A SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.1525 p.G509W 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 58 0 0 35 18 33.9623 ZNF839 0 genome.wustl.edu 37 14 102808544 102808544 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 102808544 102808544 C T SNP ZNF839 ENST00000420933 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors ZNF839 HGNC ENSG00000022976 76 0 0 43 19 30.6452 AHNAK2 0 genome.wustl.edu 37 14 105410774 105410774 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105410774 105410774 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11014 p.V3672L 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 256 1 0.389105 146 18 10.9756 AHNAK2 0 genome.wustl.edu 37 14 105410843 105410843 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105410843 105410843 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.10945 p.R3649G 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 290 1 0.343643 155 30 16.2162 AHNAK2 0 genome.wustl.edu 37 14 105410847 105410847 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105410847 105410847 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.10941 p.S3647 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 295 0 0 159 32 16.7539 AHNAK2 0 genome.wustl.edu 37 14 105410862 105410862 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105410862 105410862 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.10926 p.K3642 0.967 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 314 0 0 163 48 22.7488 AHNAK2 0 genome.wustl.edu 37 14 105418827 105418827 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105418827 105418827 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.2961 p.A987 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 420 0 0 384 24 5.88235 TMEM121 0 genome.wustl.edu 37 14 105995483 105995483 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 105995483 105995483 G A SNP TMEM121 ENST00000392519 human ensembl 74_37 +1 known silent c.312 p.A104 0.165 NULL NULL - no_errors TMEM121 HGNC ENSG00000184986 9 0 0 13 4 23.5294 OR11H12 0 genome.wustl.edu 37 14 19378312 19378312 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 19378312 19378312 T G SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.719 p.V240G 0.273 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 17 0 0 23 4 14.8148 OR4Q3 0 genome.wustl.edu 37 14 20216140 20216140 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 20216140 20216140 T C SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.554 p.V185A 0.873 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 OR4Q3 HGNC ENSG00000182652 94 0 0 61 6 8.95522 ARHGEF40 0 genome.wustl.edu 37 14 21549846 21549846 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 21549846 21549846 G A SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2819 p.R940H 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 9 0 0 6 7 53.8462 ACIN1 0 genome.wustl.edu 37 14 23530627 23530627 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 23530627 23530627 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known nonsense c.3478 p.R1160* 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 88 0 0 33 33 50 ACIN1 0 genome.wustl.edu 37 14 23530687 23530687 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 23530687 23530687 G A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.3418 p.R1140W 0.914 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 75 0 0 39 37 48.6842 SLC22A17 0 genome.wustl.edu 37 14 23817841 23817841 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 23817841 23817841 G A SNP SLC22A17 ENST00000206544 human ensembl 74_37 -1 known missense c.566 p.A189V 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 85 0 0 52 35 40.2299 EFS 0 genome.wustl.edu 37 14 23826481 23826481 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 23826481 23826481 C A SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.1640 p.G547V 0.997 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 81 0 0 44 30 40.5405 CMTM5 0 genome.wustl.edu 37 14 23847614 23847614 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 23847614 23847614 C T SNP CMTM5 ENST00000339180 human ensembl 74_37 +1 known silent c.183 p.A61 0.158 NULL NULL - no_errors CMTM5 HGNC ENSG00000166091 100 0 0 47 43 47.7778 DHRS4L1 0 genome.wustl.edu 37 14 24518539 24518539 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 24518539 24518539 C T SNP DHRS4L1 ENST00000558293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 28 0 0 12 14 53.8462 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 68 0 0 76 10 11.6279 INSM2 0 genome.wustl.edu 37 14 36004942 36004942 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 36004942 36004942 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.1484 p.R495H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 35 0 0 29 20 40.8163 SSTR1 0 genome.wustl.edu 37 14 38678848 38678848 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 38678848 38678848 G A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.254 p.R85H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 92 0 0 69 32 31.6832 SSTR1 0 genome.wustl.edu 37 14 38679088 38679088 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 38679088 38679088 C T SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.494 p.A165V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 75 0 0 50 37 42.5287 SEC23A 0 genome.wustl.edu 37 14 39565189 39565189 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 39565189 39565189 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.134 p.L45P 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 75 0 0 54 50 48.0769 PYGL 0 genome.wustl.edu 37 14 51381427 51381427 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 51381427 51381427 T C SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.1510 p.I504V 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 55 0 0 26 25 49.0196 PTGDR 0 genome.wustl.edu 37 14 52734813 52734813 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 52734813 52734813 G T SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.281 p.R94L 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 128 1 0.775194 82 35 29.9145 PTGER2 0 genome.wustl.edu 37 14 52781670 52781670 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 52781670 52781670 A G SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known missense c.404 p.Y135C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 100 0 0 44 26 37.1429 FERMT2 0 genome.wustl.edu 37 14 53325320 53325320 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 53325320 53325320 G A SNP FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT2 HGNC ENSG00000073712 25 0 0 9 11 55 BMP4 0 genome.wustl.edu 37 14 54418739 54418739 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 54418739 54418739 G A SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.202 p.R68C 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 66 0 0 47 30 38.961 RPL13AP3 0 genome.wustl.edu 37 14 56233217 56233217 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 56233217 56233217 G A SNP RPL13AP3 ENST00000494676 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 13 0 0 4 9 69.2308 ACTR10 0 genome.wustl.edu 37 14 58690342 58690342 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 58690342 58690342 C T SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.637 p.R213C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 19 0 0 14 16 53.3333 RTN1 0 genome.wustl.edu 37 14 60070603 60070603 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 60070603 60070603 C T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2149 p.A717T 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 117 0 0 62 33 34.7368 RTN1 0 genome.wustl.edu 37 14 60213015 60213015 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 60213015 60213015 C T SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known silent c.426 p.E142 0.972 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 69 0 0 42 37 46.8354 SIX6 0 genome.wustl.edu 37 14 60976626 60976626 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 60976626 60976626 G A SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known silent c.510 p.T170 0.675 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 24 0 0 15 2 11.7647 HIF1A 0 genome.wustl.edu 37 14 62187241 62187241 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 62187241 62187241 G A SNP HIF1A ENST00000539097 human ensembl 74_37 +1 known silent c.249 p.V83 0.967 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors HIF1A HGNC ENSG00000100644 75 0 0 43 41 48.8095 SYNE2 0 genome.wustl.edu 37 14 64520260 64520260 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 64520260 64520260 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.9629 p.T3210I 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 47 0 0 70 15 17.6471 ADAM21P1 0 genome.wustl.edu 37 14 70712901 70712901 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 70712901 70712901 C T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors ADAM21P1 HGNC ENSG00000235812 50 0 0 37 22 37.2881 RBM25 0 genome.wustl.edu 37 14 73544119 73544119 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 73544119 73544119 G A SNP RBM25 ENST00000261973 human ensembl 74_37 +1 known missense c.199 p.A67T 1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 54 0 0 35 18 33.9623 LTBP2 0 genome.wustl.edu 37 14 74970717 74970717 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 74970717 74970717 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.4494 p.P1498 0.300 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 36 0 0 13 7 35 AREL1 0 genome.wustl.edu 37 14 75151323 75151323 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 75151323 75151323 G A SNP AREL1 ENST00000356357 human ensembl 74_37 -1 known missense c.77 p.A26V 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors AREL1 HGNC ENSG00000119682 67 0 0 26 18 40.9091 YLPM1 0 genome.wustl.edu 37 14 75277083 75277083 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 75277083 75277083 C T SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known missense c.5188 p.R1730W 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 128 1 0.775194 57 39 40.625 TMED10 0 genome.wustl.edu 37 14 75602475 75602475 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 75602475 75602475 G A SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known missense c.526 p.R176C 1.000 pfam_GOLD,pfscan_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 93 0 0 56 40 41.6667 GALC 0 genome.wustl.edu 37 14 88450866 88450866 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 88450866 88450866 A G SNP GALC ENST00000261304 human ensembl 74_37 -1 known missense c.454 p.S152P 1.000 pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59 - no_errors GALC HGNC ENSG00000054983 30 0 0 23 17 42.5 CATSPERB 0 genome.wustl.edu 37 14 92047403 92047403 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 92047403 92047403 C T SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.3181 p.A1061T 0.190 NULL superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 32 0 0 14 18 56.25 SERPINA3 0 genome.wustl.edu 37 14 95080920 95080920 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 95080920 95080920 G A SNP SERPINA3 ENST00000393078 human ensembl 74_37 +1 known missense c.142 p.G48R 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA3 HGNC ENSG00000196136 109 0 0 60 35 36.8421 ALDH1A3 0 genome.wustl.edu 37 15 101440957 101440957 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 101440957 101440957 G T SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.1061 p.G354V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 31 0 0 16 7 30.4348 LRRK1 0 genome.wustl.edu 37 15 101529526 101529526 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 101529526 101529526 C T SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.685 p.P229S 0.993 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 99 0 0 67 37 35.5769 HERC2P2 0 genome.wustl.edu 37 15 23300023 23300023 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 23300023 23300023 C T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 0.944 - - - no_errors HERC2P2 HGNC ENSG00000140181 39 0 0 23 4 14.8148 NPAP1 0 genome.wustl.edu 37 15 24923884 24923884 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 24923884 24923884 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2870 p.T957I 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 80 0 0 62 8 11.4286 SNHG14 0 genome.wustl.edu 37 15 25488618 25488618 + RNA SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 25488618 25488618 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SNHG14 HGNC ENSG00000224078 38 0 0 49 5 9.25926 ATP10A 0 genome.wustl.edu 37 15 25947181 25947181 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 25947181 25947181 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2642 p.A881V 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 122 1 0.813008 51 50 49.505 OCA2 0 genome.wustl.edu 37 15 28090178 28090178 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 28090178 28090178 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2359 p.A787T 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 79 0 0 23 14 37.8378 HERC2 0 genome.wustl.edu 37 15 28437288 28437288 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 28437288 28437288 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8270 p.A2757V 0.986 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 125 0 0 79 54 40.6015 HERC2 0 genome.wustl.edu 37 15 28493767 28493767 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 28493767 28493767 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.3166 p.R1056C 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 41 0 0 27 19 41.3043 APBA2 0 genome.wustl.edu 37 15 29397613 29397613 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 29397613 29397613 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1556 p.A519V 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 42 0 0 17 11 39.2857 TJP1 0 genome.wustl.edu 37 15 30001145 30001145 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 30001145 30001145 G A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known nonsense c.4468 p.R1490* 0.999 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 172 0 0 101 42 29.3706 TJP1 0 genome.wustl.edu 37 15 30010706 30010706 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 30010706 30010706 A C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3640 p.F1214V 0.065 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 76 0 0 53 43 44.7917 CHRFAM7A 0 genome.wustl.edu 37 15 30659642 30659642 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 30659642 30659642 G A SNP CHRFAM7A ENST00000299847 human ensembl 74_37 -1 known silent c.699 p.D233 0.934 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC ENSG00000166664 66 0 0 36 12 25 MTMR10 0 genome.wustl.edu 37 15 31233850 31233850 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 31233850 31233850 G A SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known silent c.2157 p.N719 0.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 14 0 0 13 8 38.0952 THBS1 0 genome.wustl.edu 37 15 39885703 39885703 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 39885703 39885703 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3101 p.R1034H 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 166 0 0 140 75 34.8837 FSIP1 0 genome.wustl.edu 37 15 39910098 39910098 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 39910098 39910098 C T SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.1537 p.V513I 0.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 91 0 0 66 50 43.1034 EHD4 0 genome.wustl.edu 37 15 42193061 42193061 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 42193061 42193061 C T SNP EHD4 ENST00000220325 human ensembl 74_37 -1 known missense c.1408 p.A470T 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD4 HGNC ENSG00000103966 57 0 0 36 22 37.931 TTBK2 0 genome.wustl.edu 37 15 43067849 43067849 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 43067849 43067849 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known silent c.1482 p.C494 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK2 HGNC ENSG00000128881 111 0 0 62 43 40.9524 LCMT2 0 genome.wustl.edu 37 15 43622547 43622547 + Silent SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 43622547 43622547 G C SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known silent c.141 p.R47 1.000 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 65 0 0 27 16 37.2093 MAP1A 0 genome.wustl.edu 37 15 43815948 43815948 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 43815948 43815948 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known silent c.2277 p.P759 0.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 28 0 0 23 13 36.1111 WDR76 0 genome.wustl.edu 37 15 44127282 44127282 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 44127282 44127282 C T SNP WDR76 ENST00000263795 human ensembl 74_37 +1 known silent c.486 p.Y162 0.904 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 65 0 0 33 27 45 COPS2 0 genome.wustl.edu 37 15 49431799 49431799 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 49431799 49431799 G A SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.298 p.R100W 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 102 0 0 86 56 39.4366 TNFAIP8L3 0 genome.wustl.edu 37 15 51350305 51350305 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 51350305 51350305 C T SNP TNFAIP8L3 ENST00000327536 human ensembl 74_37 -1 known missense c.652 p.D218N 0.997 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L3 HGNC ENSG00000183578 58 0 0 81 7 7.95455 GLDN 0 genome.wustl.edu 37 15 51696776 51696776 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 51696776 51696776 T C SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.1481 p.F494S 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 129 0 0 144 9 5.88235 ONECUT1 0 genome.wustl.edu 37 15 53081088 53081088 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 53081088 53081088 G A SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.994 p.R332C 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 61 0 0 33 31 48.4375 LIPC 0 genome.wustl.edu 37 15 58724239 58724239 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 58724239 58724239 C T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.8 p.T3I 0.001 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 101 0 0 48 17 26.1538 DENND4A 0 genome.wustl.edu 37 15 65954190 65954190 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 65954190 65954190 T C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known silent c.5720 p.*1907 0.995 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 22 0 0 8 9 52.9412 RPL4 0 genome.wustl.edu 37 15 66793741 66793741 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 66793741 66793741 A G SNP RPL4 ENST00000307961 human ensembl 74_37 -1 known silent c.648 p.G216 0.082 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 157 0 0 110 67 37.8531 IQCH 0 genome.wustl.edu 37 15 67664607 67664607 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 67664607 67664607 C T SNP IQCH ENST00000335894 human ensembl 74_37 +1 known silent c.912 p.H304 0.002 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 91 0 0 80 34 29.8246 ITGA11 0 genome.wustl.edu 37 15 68612614 68612614 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 68612614 68612614 G A SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2525 p.A842V 0.969 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 43 0 0 20 21 51.2195 KIF23 0 genome.wustl.edu 37 15 69709798 69709798 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 69709798 69709798 A G SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known missense c.158 p.Q53R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 97 0 0 64 58 47.541 ENSG00000261460 0 genome.wustl.edu 37 15 72637764 72637764 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 72637764 72637764 C T SNP ENSG00000261460 ENST00000570175 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 30 0 0 25 22 46.8085 NEO1 0 genome.wustl.edu 37 15 73585744 73585744 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 73585744 73585744 C A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known silent c.3756 p.A1252 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 239 0 0 118 67 36.2162 HCN4 0 genome.wustl.edu 37 15 73615907 73615907 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 73615907 73615907 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.2527 p.A843T 0.411 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 87 0 0 47 24 33.8028 STRA6 0 genome.wustl.edu 37 15 74488486 74488486 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 74488486 74488486 G T SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known missense c.386 p.P129H 1.000 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 25 0 0 10 9 47.3684 CLK3 0 genome.wustl.edu 37 15 74911653 74911653 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 74911653 74911653 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.560 p.R187Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 90 0 0 59 40 40.404 PEAK1 0 genome.wustl.edu 37 15 77473380 77473380 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 77473380 77473380 G A SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known nonsense c.889 p.R297* 0.512 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 105 0 0 67 50 42.735 CHRNB4 0 genome.wustl.edu 37 15 78921959 78921959 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 78921959 78921959 G A SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.688 p.R230C 0.990 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 153 0 0 59 51 46.3636 AP3B2 0 genome.wustl.edu 37 15 83350299 83350299 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 83350299 83350299 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.394 p.R132C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 64 0 0 31 20 39.2157 AKAP13 0 genome.wustl.edu 37 15 86028977 86028977 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 86028977 86028977 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.26 p.P9L 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 57 0 0 24 13 35.1351 ACAN 0 genome.wustl.edu 37 15 89382169 89382169 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 89382169 89382169 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.346 p.A116T 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 182 0 0 71 58 44.9612 SEMA4B 0 genome.wustl.edu 37 15 90771643 90771643 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 90771643 90771643 G A SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.2282 p.C761Y 0.970 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 SEMA4B HGNC ENSG00000185033 22 0 0 8 7 46.6667 TTLL13 0 genome.wustl.edu 37 15 90796498 90796498 + Missense_Mutation SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 90796498 90796498 A T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.316 p.M106L 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 27 0 0 16 7 30.4348 FES 0 genome.wustl.edu 37 15 91434325 91434325 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 91434325 91434325 G A SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.1434 p.G478 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 11 0 0 5 2 28.5714 UNKL 0 genome.wustl.edu 37 16 1417206 1417206 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 1417206 1417206 C T SNP UNKL ENST00000402641 human ensembl 74_37 -1 known missense c.430 p.V144I 0.562 NULL pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 16 0 0 4 2 33.3333 EME2 0 genome.wustl.edu 37 16 1823424 1823424 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 1823424 1823424 C T SNP EME2 ENST00000307394 human ensembl 74_37 +1 known silent c.196 p.L66 0.920 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 14 0 0 4 5 55.5556 NUBP2 0 genome.wustl.edu 37 16 1836845 1836845 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 1836845 1836845 G A SNP NUBP2 ENST00000262302 human ensembl 74_37 +1 known missense c.223 p.G75S 0.996 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK,superfamily_P-loop_NTPase - no_errors NUBP2 HGNC ENSG00000095906 41 0 0 20 10 33.3333 SMG1 0 genome.wustl.edu 37 16 18844443 18844443 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 18844443 18844443 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known nonsense c.8611 p.R2871* 0.994 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 87 0 0 58 40 40.8163 UMOD 0 genome.wustl.edu 37 16 20359844 20359844 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 20359844 20359844 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.878 p.A293V 0.013 NULL pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 21 0 0 13 4 23.5294 ZNF598 0 genome.wustl.edu 37 16 2051158 2051158 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2051158 2051158 G A SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.1048 p.R350W 0.999 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 18 0 0 14 9 39.1304 ZNF598 0 genome.wustl.edu 37 16 2052542 2052542 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2052542 2052542 G A SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known silent c.657 p.D219 0.926 smart_Znf_C2H2-like superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 55 0 0 39 26 40 DNAH3 0 genome.wustl.edu 37 16 21147803 21147803 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 21147803 21147803 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.728 p.R243H 0.023 NULL 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 99 0 0 114 18 13.6364 CRYM-AS1 0 genome.wustl.edu 37 16 21328281 21328281 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 21328281 21328281 C T SNP CRYM-AS1 ENST00000338573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CRYM-AS1 HGNC ENSG00000189149 200 0 0 140 96 40.678 EEF2K 0 genome.wustl.edu 37 16 22237143 22237143 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 22237143 22237143 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known silent c.93 p.S31 0.443 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 56 0 0 33 17 34 DNASE1L2 0 genome.wustl.edu 37 16 2287831 2287831 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2287831 2287831 G A SNP DNASE1L2 ENST00000320700 human ensembl 74_37 +1 known missense c.655 p.A219T 0.016 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L2 HGNC ENSG00000167968 14 0 0 11 11 50 TNRC6A 0 genome.wustl.edu 37 16 24788506 24788506 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 24788506 24788506 G T SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.416 p.R139L 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 158 0 0 89 70 44.0252 C16orf59 0 genome.wustl.edu 37 16 2512523 2512523 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2512523 2512523 G A SNP C16orf59 ENST00000361837 human ensembl 74_37 +1 known silent c.858 p.S286 0.000 NULL NULL - no_errors C16orf59 HGNC ENSG00000162062 15 0 0 6 5 45.4545 SRRM2 0 genome.wustl.edu 37 16 2809397 2809397 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2809397 2809397 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.734 p.R245Q 0.998 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 71 0 0 50 23 31.5068 SH2B1 0 genome.wustl.edu 37 16 28883542 28883542 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 28883542 28883542 C T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known silent c.1545 p.G515 0.964 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 32 0 0 25 14 35.8974 RABEP2 0 genome.wustl.edu 37 16 28919999 28919999 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 28919999 28919999 C T SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known silent c.1176 p.L392 0.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 129 0 0 76 49 39.2 PRRT2 0 genome.wustl.edu 37 16 29825015 29825015 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 29825015 29825015 G C SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.640 p.A214P 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 18 0 0 7 10 58.8235 FLYWCH1 0 genome.wustl.edu 37 16 2983313 2983313 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 2983313 2983313 C T SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.979 p.R327C 0.961 pfam_Znf_FLYWCH pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 21 0 0 9 2 18.1818 ENSG00000261367 0 genome.wustl.edu 37 16 30119473 30119473 + RNA SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 30119473 30119473 A G SNP ENSG00000261367 ENST00000566190 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-455F5.4 Clone_based_vega_gene ENSG00000261367 18 0 0 9 13 59.0909 PKMYT1 0 genome.wustl.edu 37 16 3024408 3024408 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 3024408 3024408 G A SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known silent c.990 p.S330 0.001 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 21 0 0 10 4 28.5714 CLDN9 0 genome.wustl.edu 37 16 3063742 3063742 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 3063742 3063742 C T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known missense c.379 p.L127F 0.127 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 120 0 0 71 37 34.2593 SRCAP 0 genome.wustl.edu 37 16 30740479 30740479 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 30740479 30740479 T C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.5851 p.Y1951H 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 53 0 0 32 36 52.9412 BCL7C 0 genome.wustl.edu 37 16 30904559 30904559 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 30904559 30904559 C T SNP BCL7C ENST00000380317 human ensembl 74_37 -1 known missense c.145 p.V49M 1.000 pfam_BCL7 pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 48 0 0 19 16 45.7143 KAT8 0 genome.wustl.edu 37 16 31138547 31138547 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 31138547 31138547 G A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.554 p.G185E 1.000 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 69 0 0 75 42 35.8974 AXIN1 0 genome.wustl.edu 37 16 396464 396464 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 396464 396464 C T SNP AXIN1 ENST00000262320 human ensembl 74_37 -1 known missense c.562 p.E188K 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 90 0 0 44 43 49.4253 ADCY9 0 genome.wustl.edu 37 16 4165257 4165257 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 4165257 4165257 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.187 p.V63I 0.001 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 35 0 0 13 10 43.4783 TMEM8A 0 genome.wustl.edu 37 16 426792 426792 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 426792 426792 G A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.656 p.T219M 0.030 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 26 0 0 21 11 34.375 PPL 0 genome.wustl.edu 37 16 4934126 4934126 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 4934126 4934126 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.4530 p.G1510 0.003 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 61 0 0 46 34 42.5 ZNF423 0 genome.wustl.edu 37 16 49671411 49671411 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 49671411 49671411 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1652 p.P551Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 82 0 0 28 30 51.7241 ZNF423 0 genome.wustl.edu 37 16 49671517 49671517 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 49671517 49671517 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1546 p.A516T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 46 0 0 36 16 30.7692 PAPD5 0 genome.wustl.edu 37 16 50259111 50259111 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 50259111 50259111 C T SNP PAPD5 ENST00000436909 human ensembl 74_37 +1 known missense c.1670 p.S557L 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD5 HGNC ENSG00000121274 60 0 0 35 15 30 NOD2 0 genome.wustl.edu 37 16 50746063 50746063 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 50746063 50746063 C T SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known silent c.2241 p.Y747 0.213 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 41 0 0 31 26 45.614 SALL1 0 genome.wustl.edu 37 16 51175743 51175743 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 51175743 51175743 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.390 p.P130 0.025 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 72 0 0 46 31 40.2597 CDH5 0 genome.wustl.edu 37 16 66413312 66413312 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 66413312 66413312 A G SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known silent c.72 p.A24 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 131 0 0 67 47 41.2281 PLEKHG4 0 genome.wustl.edu 37 16 67318243 67318243 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67318243 67318243 C G SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.1575 p.D525E 0.041 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 40 0 0 22 11 33.3333 GFOD2 0 genome.wustl.edu 37 16 67709578 67709578 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67709578 67709578 C T SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.638 p.G213D 1.000 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 63 0 0 43 25 36.7647 CENPT 0 genome.wustl.edu 37 16 67862729 67862729 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67862729 67862729 G A SNP CENPT ENST00000219172 human ensembl 74_37 -1 known missense c.1298 p.A433V 0.000 superfamily_Histone-fold superfamily_Histone-fold - no_errors CENPT HGNC ENSG00000102901 90 0 0 56 28 33.3333 CDH1 0 genome.wustl.edu 37 16 68862192 68862192 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 68862192 68862192 C T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known silent c.2280 p.G760 0.865 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 93 0 0 43 28 39.4366 VAC14 0 genome.wustl.edu 37 16 70815824 70815824 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 70815824 70815824 G A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.894 p.S298 0.354 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 55 0 0 38 13 25.4902 MARVELD3 0 genome.wustl.edu 37 16 71674425 71674425 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 71674425 71674425 C T SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known missense c.728 p.P243L 0.976 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 75 0 0 42 35 45.4545 SNORA70D 0 genome.wustl.edu 37 16 71732542 71732542 + RNA SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 71732542 71732542 G T SNP SNORA70D ENST00000578836 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors SNORA70D HGNC ENSG00000263666 20 0 0 12 12 50 PHLPP2 0 genome.wustl.edu 37 16 71736615 71736615 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 71736615 71736615 G A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known nonsense c.304 p.R102* 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 65 0 0 44 29 39.726 DHODH 0 genome.wustl.edu 37 16 72046132 72046132 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 72046132 72046132 C T SNP DHODH ENST00000219240 human ensembl 74_37 +1 known missense c.205 p.R69W 0.840 pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2 - no_errors DHODH HGNC ENSG00000102967 60 0 0 46 26 36.1111 DHX38 0 genome.wustl.edu 37 16 72130091 72130091 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 72130091 72130091 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.35 p.R12Q 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 83 0 0 31 24 43.6364 PMFBP1 0 genome.wustl.edu 37 16 72153907 72153907 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 72153907 72153907 G A SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known silent c.2865 p.A955 0.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 96 0 0 49 28 36.3636 STUB1 0 genome.wustl.edu 37 16 731217 731217 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 731217 731217 G A SNP STUB1 ENST00000219548 human ensembl 74_37 +1 known silent c.225 p.Q75 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ubox_domain,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 11 0 0 10 6 37.5 GLG1 0 genome.wustl.edu 37 16 74526881 74526881 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 74526881 74526881 A G SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.1208 p.M403T 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 42 0 0 31 33 51.5625 WDR59 0 genome.wustl.edu 37 16 74937943 74937943 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 74937943 74937943 G A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.1768 p.R590C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 27 0 0 14 13 48.1481 LDHD 0 genome.wustl.edu 37 16 75148724 75148724 + Splice_Site SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 75148724 75148724 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known splice_site c.469+1 e4+1 1.000 - - - no_errors LDHD HGNC ENSG00000166816 47 0 0 24 11 31.4286 CHST6 0 genome.wustl.edu 37 16 75512783 75512783 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 75512783 75512783 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.944 p.R315H 0.886 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 53 0 0 52 28 35 CHST5 0 genome.wustl.edu 37 16 75564134 75564134 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 75564134 75564134 C T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.167 p.R56Q 0.790 pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 24 0 0 14 9 39.1304 CDYL2 0 genome.wustl.edu 37 16 80654764 80654764 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 80654764 80654764 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.903 p.S301 1.000 pfam_Crotonase_core_superfam pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 40 0 0 16 14 46.6667 GCSH 0 genome.wustl.edu 37 16 81124283 81124283 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 81124283 81124283 G A SNP GCSH ENST00000315467 human ensembl 74_37 -1 known missense c.151 p.R51C 1.000 pfam_GCV_H,superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub - no_errors GCSH HGNC ENSG00000140905 58 0 0 48 32 40 CMIP 0 genome.wustl.edu 37 16 81694495 81694495 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 81694495 81694495 G A SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.688 p.A230T 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 324 0 0 153 123 44.5652 KCNG4 0 genome.wustl.edu 37 16 84256361 84256361 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 84256361 84256361 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known missense c.1022 p.A341V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 14 0 0 16 14 46.6667 ZDHHC7 0 genome.wustl.edu 37 16 85024123 85024123 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 85024123 85024123 G A SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known silent c.102 p.D34 0.030 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 58 0 0 29 20 40.8163 FAM92B 0 genome.wustl.edu 37 16 85143874 85143874 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 85143874 85143874 G A SNP FAM92B ENST00000539556 human ensembl 74_37 -1 known silent c.213 p.F71 0.462 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC ENSG00000153789 63 0 0 36 28 43.75 COX4I1 0 genome.wustl.edu 37 16 85839437 85839437 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 85839437 85839437 A G SNP COX4I1 ENST00000253452 human ensembl 74_37 +1 known missense c.340 p.T114A 1.000 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I1 HGNC ENSG00000131143 126 0 0 62 36 36.7347 SPG7 0 genome.wustl.edu 37 16 89614500 89614500 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 89614500 89614500 G A SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.1642 p.A548T 1.000 pfam_Peptidase_M41,superfamily_P-loop_NTPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 104 0 0 57 37 39.3617 PMP22 0 genome.wustl.edu 37 17 15162426 15162426 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 15162426 15162426 A G SNP PMP22 ENST00000312280 human ensembl 74_37 -1 known missense c.163 p.S55P 0.000 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20 - no_errors PMP22 HGNC ENSG00000109099 55 0 0 26 19 42.2222 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 80 0 0 75 34 31.1927 WDR81 0 genome.wustl.edu 37 17 1637358 1637358 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 1637358 1637358 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.5027 p.P1676L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 65 0 0 38 23 37.7049 SERPINF2 0 genome.wustl.edu 37 17 1650347 1650347 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 1650347 1650347 G T SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.402 p.Q134H 0.972 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 23 0 0 16 10 38.4615 RAI1 0 genome.wustl.edu 37 17 17697948 17697948 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 17697948 17697948 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.1686 p.D562 0.924 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 125 0 0 54 42 43.75 MYO15A 0 genome.wustl.edu 37 17 18022933 18022933 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 18022933 18022933 C A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.819 p.P273 0.017 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 76 0 0 41 25 37.8788 FLII 0 genome.wustl.edu 37 17 18154602 18154602 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 18154602 18154602 C T SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.1573 p.A525T 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 42 0 0 21 24 53.3333 TRIM16L 0 genome.wustl.edu 37 17 18631016 18631016 + Splice_Site SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 18631016 18631016 G T SNP TRIM16L ENST00000577969 human ensembl 74_37 +1 known splice_site c.145+1 e1+1 0.023 - - - no_errors TRIM16L HGNC ENSG00000108448 107 0 0 54 33 37.931 TVP23B 0 genome.wustl.edu 37 17 18707468 18707468 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 18707468 18707468 T C SNP TVP23B ENST00000307767 human ensembl 74_37 +1 known silent c.480 p.G160 0.999 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23B HGNC ENSG00000171928 86 0 0 52 40 43.4783 SLC5A10 0 genome.wustl.edu 37 17 18923170 18923170 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 18923170 18923170 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.1603 p.A535T 0.108 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 22 0 0 7 10 58.8235 SPECC1 0 genome.wustl.edu 37 17 20108291 20108291 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 20108291 20108291 G A SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.929 p.R310Q 0.952 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 134 0 0 89 65 42.2078 TMEM11 0 genome.wustl.edu 37 17 21101945 21101945 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 21101945 21101945 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known missense c.271 p.A91T 0.981 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 59 0 0 34 21 38.1818 TSR1 0 genome.wustl.edu 37 17 2238058 2238058 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 2238058 2238058 C A SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known missense c.689 p.G230V 0.907 pfam_AARP2CN,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 155 0 0 80 79 49.6855 PAFAH1B1 0 genome.wustl.edu 37 17 2570463 2570463 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 2570463 2570463 G A SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.370 p.V124I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 67 0 0 38 24 38.7097 VTN 0 genome.wustl.edu 37 17 26694831 26694831 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 26694831 26694831 C T SNP VTN ENST00000226218 human ensembl 74_37 -1 known missense c.1229 p.S410N 0.000 superfamily_Hemopexin-like_dom pfam_Hemopexin-like_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC ENSG00000109072 63 0 0 53 30 36.1446 PIGS 0 genome.wustl.edu 37 17 26883896 26883896 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 26883896 26883896 G A SNP PIGS ENST00000308360 human ensembl 74_37 -1 known silent c.1029 p.G343 0.211 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 46 0 0 15 19 55.8824 ALDOC 0 genome.wustl.edu 37 17 26901099 26901099 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 26901099 26901099 G T SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.785 p.P262H 1.000 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 135 0 0 99 80 44.6927 MYO18A 0 genome.wustl.edu 37 17 27446378 27446378 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 27446378 27446378 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.1804 p.L602 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_RecA_monomer-monomer_interface pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 25 0 0 17 5 22.7273 RAP1GAP2 0 genome.wustl.edu 37 17 2808601 2808601 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 2808601 2808601 C T SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known missense c.104 p.S35L 0.996 NULL pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom - no_errors RAP1GAP2 HGNC ENSG00000132359 48 0 0 18 12 40 NSRP1 0 genome.wustl.edu 37 17 28511866 28511866 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 28511866 28511866 G T SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known missense c.851 p.R284M 0.992 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 45 0 0 30 16 34.7826 MYO1D 0 genome.wustl.edu 37 17 31107788 31107788 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 31107788 31107788 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.110 p.R37H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 39 0 0 27 13 32.5 CCL2 0 genome.wustl.edu 37 17 32583268 32583268 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 32583268 32583268 G A SNP CCL2 ENST00000225831 human ensembl 74_37 +1 known missense c.104 p.C35Y 0.719 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC ENSG00000108691 71 0 0 47 35 42.6829 SLC35G3 0 genome.wustl.edu 37 17 33520747 33520747 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 33520747 33520747 C T SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.580 p.V194M 1.000 NULL pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 189 0 0 93 58 38.4106 AP2B1 0 genome.wustl.edu 37 17 33984642 33984642 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 33984642 33984642 T C SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known silent c.1821 p.V607 1.000 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 57 0 0 48 20 29.4118 MMP28 0 genome.wustl.edu 37 17 34100368 34100368 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 34100368 34100368 C T SNP MMP28 ENST00000587639 human ensembl 74_37 -1 known silent c.420 p.V140 1.000 NULL pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like - no_errors MMP28 HGNC ENSG00000129270 9 0 0 11 12 52.1739 RDM1 0 genome.wustl.edu 37 17 34249635 34249635 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 34249635 34249635 C T SNP RDM1 ENST00000293273 human ensembl 74_37 -1 known missense c.613 p.A205T 0.947 pfam_Rad52_Rad22 pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 164 0 0 84 53 38.6861 EMC6 0 genome.wustl.edu 37 17 3572580 3572580 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 3572580 3572580 C T SNP EMC6 ENST00000248378 human ensembl 74_37 +1 known missense c.140 p.T47I 1.000 NULL NULL - no_errors EMC6 HGNC ENSG00000127774 39 0 0 20 12 37.5 SRCIN1 0 genome.wustl.edu 37 17 36719614 36719614 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 36719614 36719614 C T SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.685 p.A229T 1.000 pfam_AIP3_C pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 10 0 0 3 2 40 KRT40 0 genome.wustl.edu 37 17 39140460 39140460 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 39140460 39140460 T C SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.66 p.A22 0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 32 0 0 27 23 46 ZZEF1 0 genome.wustl.edu 37 17 3966183 3966183 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 3966183 3966183 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.4747 p.A1583T 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 31 0 0 25 11 30.5556 KLHL11 0 genome.wustl.edu 37 17 40010508 40010508 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 40010508 40010508 C T SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known silent c.1611 p.V537 0.994 NULL pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 81 0 0 64 56 46.6667 DHX58 0 genome.wustl.edu 37 17 40255748 40255748 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 40255748 40255748 C T SNP DHX58 ENST00000251642 human ensembl 74_37 -1 known silent c.1632 p.R544 0.000 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX58 HGNC ENSG00000108771 83 0 0 35 21 37.5 PLEKHH3 0 genome.wustl.edu 37 17 40825750 40825750 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 40825750 40825750 C T SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known missense c.401 p.S134N 0.983 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 25 0 0 14 10 41.6667 DHX8 0 genome.wustl.edu 37 17 41599488 41599488 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 41599488 41599488 C T SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.3337 p.R1113C 1.000 pfam_DUF1605,superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 122 0 0 110 11 9.09091 MPP2 0 genome.wustl.edu 37 17 41958079 41958079 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 41958079 41958079 C T SNP MPP2 ENST00000461854 human ensembl 74_37 -1 known missense c.1202 p.R401H 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP2 HGNC ENSG00000108852 66 0 0 37 26 41.2698 SLC4A1 0 genome.wustl.edu 37 17 42338116 42338116 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 42338116 42338116 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.236 p.A79V 0.323 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 45 0 0 35 28 44.4444 ITGA2B 0 genome.wustl.edu 37 17 42452962 42452962 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 42452962 42452962 G A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known silent c.2724 p.L908 0.001 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 42 0 0 12 12 50 ITGA2B 0 genome.wustl.edu 37 17 42457392 42457392 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 42457392 42457392 T C SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1730 p.H577R 0.045 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 42 0 0 34 24 41.3793 KIF18B 0 genome.wustl.edu 37 17 43005605 43005605 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 43005605 43005605 C T SNP KIF18B ENST00000339151 human ensembl 74_37 -1 known missense c.2074 p.V692I 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 42 0 0 20 8 28.5714 C1QL1 0 genome.wustl.edu 37 17 43044936 43044936 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 43044936 43044936 C T SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known missense c.481 p.A161T 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 88 0 0 80 5 5.88235 SMTNL2 0 genome.wustl.edu 37 17 4496330 4496330 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 4496330 4496330 G A SNP SMTNL2 ENST00000389313 human ensembl 74_37 +1 known silent c.594 p.T198 0.081 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL2 HGNC ENSG00000188176 59 0 0 39 25 39.0625 ITGB3 0 genome.wustl.edu 37 17 45368474 45368474 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 45368474 45368474 G A SNP ITGB3 ENST00000571680 human ensembl 74_37 +1 putative missense c.1280 p.G427D 0.000 smart_Integrin_bsu_N pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 76 0 0 53 35 39.7727 SP2 0 genome.wustl.edu 37 17 46002810 46002810 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 46002810 46002810 G A SNP SP2 ENST00000376741 human ensembl 74_37 +1 known silent c.1644 p.L548 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 183 0 0 89 63 41.4474 B4GALNT2 0 genome.wustl.edu 37 17 47237944 47237944 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 47237944 47237944 C T SNP B4GALNT2 ENST00000300404 human ensembl 74_37 +1 known missense c.887 p.A296V 1.000 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT2 HGNC ENSG00000167080 266 0 0 170 28 14.1414 GNGT2 0 genome.wustl.edu 37 17 47284191 47284191 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 47284191 47284191 G A SNP GNGT2 ENST00000300406 human ensembl 74_37 -1 known silent c.138 p.N46 0.825 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT2 HGNC ENSG00000167083 121 0 0 55 41 42.7083 CHRNE 0 genome.wustl.edu 37 17 4804101 4804101 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 4804101 4804101 G A SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.904 p.P302S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 27 0 0 20 3 13.0435 COL1A1 0 genome.wustl.edu 37 17 48263139 48263139 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 48263139 48263139 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.4248 p.T1416 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 36 0 0 24 20 45.4545 CACNA1G 0 genome.wustl.edu 37 17 48684339 48684339 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 48684339 48684339 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4501 p.V1501M 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 49 0 0 20 6 23.0769 CAMTA2 0 genome.wustl.edu 37 17 4883674 4883674 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 4883674 4883674 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known nonsense c.1012 p.R338* 0.810 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 37 0 0 25 11 30.5556 SPAG9 0 genome.wustl.edu 37 17 49057239 49057239 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 49057239 49057239 G A SNP SPAG9 ENST00000262013 human ensembl 74_37 -1 known nonsense c.3277 p.R1093* 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 69 0 0 59 15 20.2703 USP6 0 genome.wustl.edu 37 17 5073913 5073913 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 5073913 5073913 A G SNP USP6 ENST00000250066 human ensembl 74_37 +1 known silent c.3657 p.S1219 0.999 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 62 0 0 26 24 48 NLRP1 0 genome.wustl.edu 37 17 5425092 5425092 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 5425092 5425092 T C SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3535 p.T1179A 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 71 0 0 33 23 41.0714 BZRAP1 0 genome.wustl.edu 37 17 56386380 56386380 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 56386380 56386380 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.4253 p.R1418H 0.770 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 114 0 0 121 8 6.20155 BZRAP1 0 genome.wustl.edu 37 17 56389688 56389688 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 56389688 56389688 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known nonsense c.2494 p.R832* 0.995 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 27 0 0 21 16 43.2432 C17orf47 0 genome.wustl.edu 37 17 56620549 56620549 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 56620549 56620549 G A SNP C17orf47 ENST00000321691 human ensembl 74_37 -1 known silent c.999 p.R333 0.979 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 59 0 0 37 24 39.3443 DHX40 0 genome.wustl.edu 37 17 57682875 57682875 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 57682875 57682875 C T SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known silent c.2040 p.Y680 0.997 pfam_DUF1605 pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 51 0 0 39 28 41.791 USP32 0 genome.wustl.edu 37 17 58262986 58262986 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 58262986 58262986 C A SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.3669 p.E1223D 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 98 0 0 45 30 40 METTL2A 0 genome.wustl.edu 37 17 60503764 60503764 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 60503764 60503764 C T SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known silent c.307 p.L103 1.000 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 50 0 0 33 30 47.619 MRC2 0 genome.wustl.edu 37 17 60759276 60759276 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 60759276 60759276 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.2781 p.C927 0.340 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 22 0 0 11 7 38.8889 MRC2 0 genome.wustl.edu 37 17 60768444 60768444 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 60768444 60768444 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.4147 p.A1383T 0.991 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 16 0 0 13 6 31.5789 MARCH10 0 genome.wustl.edu 37 17 60879085 60879085 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 60879085 60879085 G A SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known silent c.12 p.D4 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 133 0 0 74 51 40.8 SCN4A 0 genome.wustl.edu 37 17 62041916 62041916 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 62041916 62041916 T C SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.1364 p.E455G 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 34 0 0 28 13 31.7073 ERN1 0 genome.wustl.edu 37 17 62149396 62149396 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 62149396 62149396 C T SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known silent c.423 p.S141 0.010 superfamily_Quinonprotein_ADH-like_supfam pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 15 0 0 4 7 63.6364 PLEKHM1P 0 genome.wustl.edu 37 17 62796312 62796312 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 62796312 62796312 C T SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 12 0 0 20 9 31.0345 CACNG5 0 genome.wustl.edu 37 17 64881248 64881248 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 64881248 64881248 G A SNP CACNG5 ENST00000307139 human ensembl 74_37 +1 known missense c.719 p.G240D 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 47 0 0 35 5 12.5 NXN 0 genome.wustl.edu 37 17 707017 707017 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 707017 707017 C T SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.1030 p.A344T 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 128 0 0 45 43 48.8636 SLC39A11 0 genome.wustl.edu 37 17 71084850 71084850 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 71084850 71084850 G A SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.54 p.T18 1.000 NULL pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 21 0 0 9 4 30.7692 SDK2 0 genome.wustl.edu 37 17 71427647 71427647 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 71427647 71427647 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.1474 p.V492I 0.994 pfam_Ig_I-set,smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 152 0 0 110 61 35.6725 NEURL4 0 genome.wustl.edu 37 17 7219602 7219602 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7219602 7219602 G A SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.4529 p.A1510V 0.996 NULL pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 42 0 0 22 16 42.1053 KIF19 0 genome.wustl.edu 37 17 72344014 72344014 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 72344014 72344014 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known silent c.1023 p.G341 0.996 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 9 0 0 4 4 50 BTBD17 0 genome.wustl.edu 37 17 72356374 72356374 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 72356374 72356374 G A SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known silent c.96 p.A32 0.000 NULL pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 11 0 0 5 8 61.5385 C17orf74 0 genome.wustl.edu 37 17 7330257 7330257 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7330257 7330257 G A SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.947 p.R316H 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 48 0 0 20 17 45.9459 KIAA0195 0 genome.wustl.edu 37 17 73487495 73487495 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73487495 73487495 C A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.1345 p.L449I 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 103 0 0 66 34 34 KIAA0195 0 genome.wustl.edu 37 17 73488711 73488711 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73488711 73488711 C A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.1753 p.L585M 0.967 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 85 0 0 53 37 41.1111 RECQL5 0 genome.wustl.edu 37 17 73627305 73627305 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73627305 73627305 G A SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known silent c.1473 p.S491 0.120 NULL pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 91 0 0 46 30 39.4737 ITGB4 0 genome.wustl.edu 37 17 73729750 73729750 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73729750 73729750 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.1634 p.R545H 1.000 pirsf_Integrin_bsu-4,pfam_EGF_extracell pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 46 0 0 25 27 51.9231 UNK 0 genome.wustl.edu 37 17 73805973 73805973 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73805973 73805973 C T SNP UNK ENST00000293218 human ensembl 74_37 +1 known silent c.465 p.D155 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 58 0 0 39 10 20.4082 MRPL38 0 genome.wustl.edu 37 17 73895038 73895038 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73895038 73895038 G A SNP MRPL38 ENST00000309352 human ensembl 74_37 -1 known missense c.1036 p.R346W 0.998 NULL pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors MRPL38 HGNC ENSG00000204316 17 0 0 15 6 28.5714 EVPL 0 genome.wustl.edu 37 17 74003199 74003199 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 74003199 74003199 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.6087 p.P2029 0.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 31 0 0 44 22 33.3333 POLR2A 0 genome.wustl.edu 37 17 7405890 7405890 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7405890 7405890 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known missense c.2626 p.D876N 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC ENSG00000181222 81 0 0 48 27 36 EXOC7 0 genome.wustl.edu 37 17 74079821 74079821 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 74079821 74079821 C T SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.2116 p.V706M 1.000 pfam_Exo70,superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 51 0 0 31 19 38 FOXJ1 0 genome.wustl.edu 37 17 74133820 74133820 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 74133820 74133820 G A SNP FOXJ1 ENST00000322957 human ensembl 74_37 -1 known missense c.880 p.P294S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 41 0 0 10 11 52.381 GAA 0 genome.wustl.edu 37 17 78081640 78081640 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 78081640 78081640 G A SNP GAA ENST00000302262 human ensembl 74_37 +1 known silent c.900 p.A300 0.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors GAA HGNC ENSG00000171298 21 0 0 14 5 26.3158 ENDOV 0 genome.wustl.edu 37 17 78395990 78395990 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 78395990 78395990 C T SNP ENDOV ENST00000519117 human ensembl 74_37 +1 known silent c.279 p.L93 0.002 NULL pfam_Endonuclease-V - no_errors ENDOV HGNC ENSG00000173818 30 0 0 12 7 36.8421 GUCY2D 0 genome.wustl.edu 37 17 7917940 7917940 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7917940 7917940 C T SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.2434 p.R812W 0.994 superfamily_Kinase-like_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,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_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 70 0 0 54 33 37.931 AZI1 0 genome.wustl.edu 37 17 79180662 79180662 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 79180662 79180662 G A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.397 p.P133S 1.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 57 0 0 31 24 43.6364 GUCY2D 0 genome.wustl.edu 37 17 7919132 7919132 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7919132 7919132 G A SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.3016 p.A1006T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,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_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 25 0 0 13 7 35 TSPAN10 0 genome.wustl.edu 37 17 79612698 79612698 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 79612698 79612698 G A SNP TSPAN10 ENST00000571707 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSPAN10 HGNC ENSG00000182612 19 0 0 12 9 42.8571 FASN 0 genome.wustl.edu 37 17 80049217 80049217 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 80049217 80049217 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1373 p.A458V 0.949 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 8 0 0 6 4 40 RANGRF 0 genome.wustl.edu 37 17 8192692 8192692 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 8192692 8192692 T A SNP RANGRF ENST00000226105 human ensembl 74_37 +1 known missense c.311 p.V104D 0.991 pfam_Mog1,superfamily_Mog1/PsbP_a/b/a-sand pfam_Mog1,superfamily_Mog1/PsbP_a/b/a-sand - no_errors RANGRF HGNC ENSG00000108961 48 0 0 48 3 5.88235 USP43 0 genome.wustl.edu 37 17 9596520 9596520 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 9596520 9596520 G A SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.1430 p.R477Q 0.072 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 33 0 0 8 4 33.3333 GAS7 0 genome.wustl.edu 37 17 9846445 9846445 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 9846445 9846445 G A SNP GAS7 ENST00000432992 human ensembl 74_37 -1 known missense c.724 p.R242W 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom - no_errors GAS7 HGNC ENSG00000007237 142 0 0 55 37 40.2174 AFG3L2 0 genome.wustl.edu 37 18 12356744 12356744 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 12356744 12356744 G A SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.1113 p.T371 0.980 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors AFG3L2 HGNC ENSG00000141385 76 0 0 57 31 35.2273 C18orf8 0 genome.wustl.edu 37 18 21087004 21087004 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 21087004 21087004 A G SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known missense c.250 p.T84A 1.000 superfamily_WD40_repeat_dom pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 170 0 0 106 84 44.2105 USP14 0 genome.wustl.edu 37 18 211172 211172 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 211172 211172 T C SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.1373 p.V458A 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 45 0 0 26 24 48 KCTD1 0 genome.wustl.edu 37 18 24039686 24039686 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 24039686 24039686 G A SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known silent c.2337 p.I779 0.297 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 74 0 0 45 32 41.5584 GAREM 0 genome.wustl.edu 37 18 29972946 29972946 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 29972946 29972946 G A SNP GAREM ENST00000269209 human ensembl 74_37 -1 known silent c.174 p.C58 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 51 0 0 30 29 49.1525 KLHL14 0 genome.wustl.edu 37 18 30349887 30349887 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 30349887 30349887 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.668 p.A223V 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 31 0 0 27 20 42.5532 MOCOS 0 genome.wustl.edu 37 18 33780188 33780188 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 33780188 33780188 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.842 p.A281V 0.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 55 0 0 38 8 17.3913 DLGAP1 0 genome.wustl.edu 37 18 3879562 3879562 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 3879562 3879562 G A SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known silent c.507 p.S169 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 96 0 0 86 49 36.2963 TCEB3B 0 genome.wustl.edu 37 18 44560119 44560119 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 44560119 44560119 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1517 p.R506H 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 151 0 0 68 41 37.6147 CTIF 0 genome.wustl.edu 37 18 46284514 46284514 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 46284514 46284514 A G SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.809 p.N270S 1.000 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 65 0 0 39 24 38.0952 DCC 0 genome.wustl.edu 37 18 50278528 50278528 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 50278528 50278528 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.196 p.D66N 0.991 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,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_dom - no_errors DCC HGNC ENSG00000187323 73 0 0 33 28 45.9016 C18orf54 0 genome.wustl.edu 37 18 51904599 51904599 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 51904599 51904599 C T SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known missense c.1102 p.R368W 1.000 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 44 0 0 40 25 38.4615 TCF4 0 genome.wustl.edu 37 18 52899754 52899754 + Silent SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 52899754 52899754 A C SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known silent c.1941 p.T647 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 77 0 0 30 26 46.4286 WDR7 0 genome.wustl.edu 37 18 54349956 54349956 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 54349956 54349956 G A SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.392 p.C131Y 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 143 0 0 80 70 46.6667 WDR7 0 genome.wustl.edu 37 18 54591291 54591291 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 54591291 54591291 T C SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.3665 p.L1222P 1.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 176 1 0.564972 80 67 45.5782 ZNF532 0 genome.wustl.edu 37 18 56648737 56648737 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 56648737 56648737 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3299 p.R1100H 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 171 0 0 85 64 42.953 CDH7 0 genome.wustl.edu 37 18 63547737 63547737 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 63547737 63547737 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1965 p.D655 0.954 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 72 0 0 42 33 44 LAMA1 0 genome.wustl.edu 37 18 6955369 6955369 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 6955369 6955369 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.8190 p.Q2730 0.307 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 23 0 0 22 3 12 CBLN2 0 genome.wustl.edu 37 18 70209141 70209141 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 70209141 70209141 G A SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known silent c.255 p.S85 0.788 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 35 0 0 22 5 18.5185 LAMA1 0 genome.wustl.edu 37 18 7036056 7036056 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 7036056 7036056 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1769 p.T590M 0.994 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,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 - no_errors LAMA1 HGNC ENSG00000101680 72 0 0 25 23 47.9167 NETO1 0 genome.wustl.edu 37 18 70451000 70451000 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 70451000 70451000 G A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.781 p.R261C 0.915 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 149 0 0 89 68 43.3121 CNDP1 0 genome.wustl.edu 37 18 72223581 72223581 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 72223581 72223581 C A SNP CNDP1 ENST00000358821 human ensembl 74_37 +1 known silent c.33 p.S11 0.000 NULL pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP1 HGNC ENSG00000150656 91 0 0 54 25 31.6456 ZNF516 0 genome.wustl.edu 37 18 74091962 74091962 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 74091962 74091962 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2108 p.T703M 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 55 0 0 25 17 40.4762 ATP9B 0 genome.wustl.edu 37 18 77137342 77137342 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 77137342 77137342 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.3403 p.R1135C 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 70 0 0 35 32 47.7612 CTDP1 0 genome.wustl.edu 37 18 77489024 77489024 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 77489024 77489024 G T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.2535 p.P845 0.961 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 293 1 0.340136 114 95 45.4545 PARD6G 0 genome.wustl.edu 37 18 77918087 77918087 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 77918087 77918087 G A SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known missense c.698 p.T233M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 68 0 0 18 23 56.0976 ENSG00000265179 0 genome.wustl.edu 37 18 905556 905556 + RNA SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 905556 905556 C A SNP ENSG00000265179 ENST00000577358 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-672L10.2 Clone_based_vega_gene ENSG00000265179 24 0 0 12 13 52 CNN2 0 genome.wustl.edu 37 19 1037928 1037928 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1037928 1037928 G A SNP CNN2 ENST00000606983 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNN2 HGNC ENSG00000064666 53 0 0 31 20 39.2157 DNM2 0 genome.wustl.edu 37 19 10908058 10908058 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 10908058 10908058 C T SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known missense c.1199 p.T400M 1.000 pfam_Dynamin_central pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 33 0 0 20 13 39.3939 ZNF627 0 genome.wustl.edu 37 19 11686097 11686097 + RNA SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 11686097 11686097 G T SNP ZNF627 ENST00000588651 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF627 HGNC ENSG00000198551 19 0 0 10 16 61.5385 ZNF44 0 genome.wustl.edu 37 19 12386785 12386785 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 12386785 12386785 T G SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.260 p.N87T 0.824 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF44 HGNC ENSG00000197857 255 0 0 122 70 36.4583 ZNF799 0 genome.wustl.edu 37 19 12501627 12501627 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 12501627 12501627 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1585 p.E529K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 106 0 0 58 38 39.5833 RTBDN 0 genome.wustl.edu 37 19 12939701 12939701 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 12939701 12939701 C T SNP RTBDN ENST00000322912 human ensembl 74_37 -1 known missense c.332 p.C111Y 0.634 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC ENSG00000132026 108 0 0 51 46 47.4227 NACC1 0 genome.wustl.edu 37 19 13248313 13248313 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 13248313 13248313 C T SNP NACC1 ENST00000292431 human ensembl 74_37 +1 known silent c.1248 p.C416 0.954 pfam_BEN_domain pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors NACC1 HGNC ENSG00000160877 12 0 0 8 6 42.8571 NDUFS7 0 genome.wustl.edu 37 19 1387831 1387831 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1387831 1387831 G A SNP NDUFS7 ENST00000233627 human ensembl 74_37 +1 known missense c.38 p.R13Q 0.000 NULL pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 60 0 0 12 4 25 NANOS3 0 genome.wustl.edu 37 19 13988417 13988417 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 13988417 13988417 C T SNP NANOS3 ENST00000339133 human ensembl 74_37 +1 known missense c.355 p.R119C 0.872 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 32 0 0 26 13 33.3333 IL27RA 0 genome.wustl.edu 37 19 14163010 14163010 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 14163010 14163010 G A SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known missense c.1819 p.A607T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 22 0 0 12 3 20 PCSK4 0 genome.wustl.edu 37 19 1487292 1487292 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1487292 1487292 T C SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.703 p.T235A 0.992 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 13 0 0 10 5 33.3333 AKAP8L 0 genome.wustl.edu 37 19 15512127 15512127 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 15512127 15512127 C T SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.650 p.R217Q 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 83 0 0 73 6 7.59494 NWD1 0 genome.wustl.edu 37 19 16910892 16910892 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 16910892 16910892 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3655 p.A1219T 0.148 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 55 0 0 49 42 46.1538 SIN3B 0 genome.wustl.edu 37 19 16989157 16989157 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 16989157 16989157 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.3214 p.E1072K 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 27 0 0 17 12 41.3793 SLC27A1 0 genome.wustl.edu 37 19 17608192 17608192 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17608192 17608192 G A SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known silent c.1125 p.T375 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 42 0 0 18 17 48.5714 COLGALT1 0 genome.wustl.edu 37 19 17679462 17679462 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17679462 17679462 C A SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.769 p.P257T 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 70 0 0 40 28 41.1765 UNC13A 0 genome.wustl.edu 37 19 17766790 17766790 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17766790 17766790 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.1449 p.A483 0.047 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 11 0 0 3 2 40 UNC13A 0 genome.wustl.edu 37 19 17768952 17768952 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17768952 17768952 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.950 p.R317H 0.981 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 41 0 0 16 7 30.4348 GDF15 0 genome.wustl.edu 37 19 18499542 18499542 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 18499542 18499542 G A SNP GDF15 ENST00000252809 human ensembl 74_37 +1 known missense c.724 p.G242S 0.998 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF15 HGNC ENSG00000130513 32 0 0 6 15 71.4286 SUGP2 0 genome.wustl.edu 37 19 19115218 19115218 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19115218 19115218 G C SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2688 p.D896E 0.212 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 46 0 0 23 23 50 SLC25A42 0 genome.wustl.edu 37 19 19206971 19206971 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19206971 19206971 A G SNP SLC25A42 ENST00000318596 human ensembl 74_37 +1 known missense c.38 p.H13R 0.021 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 48 0 0 18 12 40 TMEM161A 0 genome.wustl.edu 37 19 19231610 19231610 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19231610 19231610 G T SNP TMEM161A ENST00000162044 human ensembl 74_37 -1 known missense c.1150 p.L384I 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 79 0 0 58 28 32.5581 MEF2B 0 genome.wustl.edu 37 19 19260102 19260102 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19260102 19260102 C T SNP MEF2B ENST00000162023 human ensembl 74_37 -1 known missense c.191 p.R64H 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2B HGNC ENSG00000213999 58 0 0 33 19 36.5385 NR2C2AP 0 genome.wustl.edu 37 19 19313841 19313841 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19313841 19313841 G A SNP NR2C2AP ENST00000331552 human ensembl 74_37 -1 known missense c.29 p.T10I 0.057 superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors NR2C2AP HGNC ENSG00000184162 45 0 0 27 22 44.898 NCAN 0 genome.wustl.edu 37 19 19329894 19329894 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19329894 19329894 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.244 p.R82W 0.998 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 42 0 0 17 11 39.2857 CILP2 0 genome.wustl.edu 37 19 19655681 19655681 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 19655681 19655681 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2327 p.R776H 0.994 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 20 0 0 10 8 44.4444 ZNF90 0 genome.wustl.edu 37 19 20235921 20235921 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 20235921 20235921 G A SNP ZNF90 ENST00000474284 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ZNF90 HGNC ENSG00000213988 22 0 0 16 4 20 ZNF85 0 genome.wustl.edu 37 19 21132705 21132705 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 21132705 21132705 C T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1385 p.A462V 0.108 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 ZNF85 HGNC ENSG00000105750 24 0 0 20 4 16.6667 ZNF429 0 genome.wustl.edu 37 19 21688495 21688495 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 21688495 21688495 C T SNP ZNF429 ENST00000596126 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors ZNF429 HGNC ENSG00000197013 50 0 0 40 6 13.0435 ZNF43 0 genome.wustl.edu 37 19 21991748 21991748 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 21991748 21991748 T C SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.1091 p.H364R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 71 0 0 50 38 43.1818 DOT1L 0 genome.wustl.edu 37 19 2216574 2216574 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 2216574 2216574 G A SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.2218 p.A740T 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 65 0 0 43 35 44.8718 ZNF729 0 genome.wustl.edu 37 19 22497901 22497901 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 22497901 22497901 T C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1682 p.V561A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 36 0 0 26 19 42.2222 ZNF492 0 genome.wustl.edu 37 19 22846697 22846697 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 22846697 22846697 T C SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.226 p.C76R 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 21 0 0 12 4 25 LINGO3 0 genome.wustl.edu 37 19 2290788 2290788 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 2290788 2290788 G A SNP LINGO3 ENST00000404279 human ensembl 74_37 -1 known missense c.988 p.L330F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO3 HGNC ENSG00000220008 27 0 0 5 11 68.75 SPPL2B 0 genome.wustl.edu 37 19 2352963 2352963 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 2352963 2352963 C T SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.303 - - - no_errors SPPL2B HGNC ENSG00000005206 30 0 0 13 13 50 TSHZ3 0 genome.wustl.edu 37 19 31767688 31767688 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 31767688 31767688 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.3011 p.R1004Q 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 53 0 0 31 28 47.4576 PEPD 0 genome.wustl.edu 37 19 33984235 33984235 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 33984235 33984235 G A SNP PEPD ENST00000244137 human ensembl 74_37 -1 known silent c.402 p.S134 0.896 pfam_Aminopep_P_N pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 14 0 0 20 9 31.0345 KIAA0355 0 genome.wustl.edu 37 19 34833300 34833300 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 34833300 34833300 C T SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known missense c.2461 p.R821C 1.000 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 171 0 0 147 16 9.81595 TBXA2R 0 genome.wustl.edu 37 19 3600160 3600160 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 3600160 3600160 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.473 p.A158V 0.373 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 17 0 0 10 7 41.1765 CACTIN 0 genome.wustl.edu 37 19 3614486 3614486 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 3614486 3614486 C T SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.1060 p.E354K 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 11 0 0 7 7 50 ARHGAP33 0 genome.wustl.edu 37 19 36271872 36271872 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 36271872 36271872 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.880 p.R294C 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 80 0 0 33 26 44.0678 NPHS1 0 genome.wustl.edu 37 19 36340038 36340038 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 36340038 36340038 C T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known silent c.852 p.P284 0.000 pfam_CD80_C2-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 42 0 0 32 24 42.8571 APBA3 0 genome.wustl.edu 37 19 3759909 3759909 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 3759909 3759909 G A SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known silent c.354 p.C118 0.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 60 0 0 37 20 35.0877 MATK 0 genome.wustl.edu 37 19 3779034 3779034 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 3779034 3779034 G A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.1156 p.R386W 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 37 0 0 13 11 45.8333 ZFP30 0 genome.wustl.edu 37 19 38126847 38126847 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 38126847 38126847 C T SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.595 p.A199T 0.020 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 ZFP30 HGNC ENSG00000120784 119 0 0 93 49 34.507 SIPA1L3 0 genome.wustl.edu 37 19 38610116 38610116 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 38610116 38610116 G A SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.2462 p.R821H 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 67 0 0 41 33 44.5946 GGN 0 genome.wustl.edu 37 19 38877383 38877383 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 38877383 38877383 C T SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.519 p.P173 0.996 NULL NULL - no_errors GGN HGNC ENSG00000179168 36 0 0 21 8 27.5862 MAP4K1 0 genome.wustl.edu 37 19 39104547 39104547 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 39104547 39104547 C T SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known missense c.506 p.R169H 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 19 0 0 14 14 50 NFKBIB 0 genome.wustl.edu 37 19 39398124 39398124 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 39398124 39398124 C T SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.794 p.A265V 0.394 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,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIB HGNC ENSG00000104825 51 0 0 49 24 32.8767 FBL 0 genome.wustl.edu 37 19 40328360 40328360 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 40328360 40328360 T C SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.673 p.M225V 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 109 0 0 40 38 48.7179 FCGBP 0 genome.wustl.edu 37 19 40398289 40398289 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 40398289 40398289 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.6678 p.G2226 0.043 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 27 0 0 11 5 31.25 ZBTB7A 0 genome.wustl.edu 37 19 4047985 4047985 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 4047985 4047985 G A SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.048 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 ZBTB7A HGNC ENSG00000178951 8 0 0 3 4 57.1429 PLD3 0 genome.wustl.edu 37 19 40882619 40882619 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 40882619 40882619 C T SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1123 p.R375W 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 67 0 0 46 19 29.2308 SERTAD3 0 genome.wustl.edu 37 19 40947898 40947898 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 40947898 40947898 C A SNP SERTAD3 ENST00000322354 human ensembl 74_37 -1 known missense c.90 p.Q30H 1.000 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 31 0 0 10 6 37.5 SPTBN4 0 genome.wustl.edu 37 19 41008724 41008724 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 41008724 41008724 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.1246 p.A416T 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat 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 SPTBN4 HGNC ENSG00000160460 117 0 0 106 10 8.62069 CYP2B6 0 genome.wustl.edu 37 19 41510273 41510273 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 41510273 41510273 G A SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.406 p.G136R 0.998 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 43 0 0 26 7 21.2121 CYP2B6 0 genome.wustl.edu 37 19 41522636 41522636 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 41522636 41522636 C T SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.1380 p.A460 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 45 0 0 21 21 50 CEACAM6 0 genome.wustl.edu 37 19 42260867 42260867 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 42260867 42260867 C T SNP CEACAM6 ENST00000199764 human ensembl 74_37 +1 known missense c.424 p.P142S 0.100 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM6 HGNC ENSG00000086548 234 0 0 184 80 30.303 CEACAM3 0 genome.wustl.edu 37 19 42301880 42301880 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 42301880 42301880 C T SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known nonsense c.424 p.Q142* 0.014 NULL pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 408 0 0 314 34 9.77011 PRR19 0 genome.wustl.edu 37 19 42813800 42813800 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 42813800 42813800 C T SNP PRR19 ENST00000341747 human ensembl 74_37 +1 known missense c.64 p.R22C 0.996 NULL NULL - no_errors PRR19 HGNC ENSG00000188368 101 0 0 46 40 46.5116 STAP2 0 genome.wustl.edu 37 19 4329976 4329976 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 4329976 4329976 C T SNP STAP2 ENST00000600324 human ensembl 74_37 -1 known missense c.437 p.R146H 0.156 pfscan_SH2 pfscan_SH2 - no_errors STAP2 HGNC ENSG00000178078 42 0 0 24 11 31.4286 CHAF1A 0 genome.wustl.edu 37 19 4409287 4409287 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 4409287 4409287 T C SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known missense c.491 p.I164T 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 130 0 0 65 40 38.0952 PVRL2 0 genome.wustl.edu 37 19 45385573 45385573 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 45385573 45385573 G A SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.1148 p.R383Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 8 0 0 8 7 46.6667 SEMA6B 0 genome.wustl.edu 37 19 4552637 4552637 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 4552637 4552637 G A SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.786 p.R262 0.928 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 39 0 0 12 12 50 VASP 0 genome.wustl.edu 37 19 46027364 46027364 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 46027364 46027364 G A SNP VASP ENST00000245932 human ensembl 74_37 +1 known missense c.920 p.R307Q 1.000 pirsf_Vasodilator_phosphoprotein pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors VASP HGNC ENSG00000125753 61 0 0 35 11 23.913 VASP 0 genome.wustl.edu 37 19 46027366 46027366 + Silent SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 46027366 46027366 A C SNP VASP ENST00000245932 human ensembl 74_37 +1 known silent c.922 p.R308 1.000 pirsf_Vasodilator_phosphoprotein pirsf_Vasodilator_phosphoprotein,pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors VASP HGNC ENSG00000125753 60 0 0 34 11 24.4444 FBXO46 0 genome.wustl.edu 37 19 46216376 46216376 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 46216376 46216376 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.378 p.S126 0.995 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 38 0 0 33 23 41.0714 DMWD 0 genome.wustl.edu 37 19 46289337 46289337 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 46289337 46289337 C T SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1417 p.A473T 0.048 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 8 0 0 5 3 37.5 PPP5C 0 genome.wustl.edu 37 19 46857176 46857176 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 46857176 46857176 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.293 p.G98D 1.000 pfam_TPR_1,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 20 0 0 5 8 61.5385 SLC1A5 0 genome.wustl.edu 37 19 47282088 47282088 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 47282088 47282088 C T SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.902 p.R301H 0.989 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 79 0 0 46 12 20.6897 SLC8A2 0 genome.wustl.edu 37 19 47935695 47935695 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 47935695 47935695 C G SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.2118 p.E706D 0.999 tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 119 0 0 86 5 5.49451 SLC17A7 0 genome.wustl.edu 37 19 49934362 49934362 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 49934362 49934362 G A SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known silent c.1299 p.Y433 0.920 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 27 0 0 17 13 43.3333 PRR12 0 genome.wustl.edu 37 19 50098867 50098867 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50098867 50098867 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.1275 p.A425 0.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 19 0 0 1 7 87.5 PRR12 0 genome.wustl.edu 37 19 50099458 50099458 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50099458 50099458 G A SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.1866 p.S622 0.101 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 34 0 0 23 9 28.125 MYH14 0 genome.wustl.edu 37 19 50796825 50796825 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50796825 50796825 G T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.5350 p.A1784S 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 35 0 0 21 5 19.2308 MYBPC2 0 genome.wustl.edu 37 19 50961966 50961966 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50961966 50961966 G A SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known missense c.2461 p.E821K 0.942 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 54 0 0 10 9 47.3684 SHANK1 0 genome.wustl.edu 37 19 51220126 51220126 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 51220126 51220126 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.51 p.S17 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 13 0 0 6 5 45.4545 KLK15 0 genome.wustl.edu 37 19 51330304 51330304 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 51330304 51330304 C T SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.311 p.R104H 0.050 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 83 0 0 46 29 38.6667 PTPRS 0 genome.wustl.edu 37 19 5208389 5208389 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 5208389 5208389 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.5504 p.R1835Q 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 25 0 0 18 10 35.7143 ZNF702P 0 genome.wustl.edu 37 19 53473151 53473151 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 53473151 53473151 C T SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF702P HGNC ENSG00000242779 101 0 0 59 34 36.5591 MIR515-1 0 genome.wustl.edu 37 19 54182264 54182264 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 54182264 54182264 C T SNP MIR515-1 ENST00000384884 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors MIR515-1 HGNC ENSG00000207616 79 0 0 23 10 30.303 LENG1 0 genome.wustl.edu 37 19 54662136 54662136 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 54662136 54662136 C T SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known missense c.196 p.A66T 0.115 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 107 0 0 72 56 43.75 LILRA6 0 genome.wustl.edu 37 19 54742915 54742915 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 54742915 54742915 C T SNP LILRA6 ENST00000245621 human ensembl 74_37 -1 known missense c.1309 p.A437T 0.002 pirsf_A1B_glyco/leuk_Ig-like_rcpt pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 83 0 0 43 15 25.8621 NLRP7 0 genome.wustl.edu 37 19 55450647 55450647 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55450647 55450647 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1624 p.D542N 0.044 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 106 0 0 52 35 40.2299 NLRP2 0 genome.wustl.edu 37 19 55494233 55494233 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55494233 55494233 G A SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.1167 p.A389 0.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 50 0 0 31 9 22.5 ZNF628 0 genome.wustl.edu 37 19 55994334 55994334 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55994334 55994334 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1774 p.R592W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 24 0 0 13 9 40.9091 ZNF628 0 genome.wustl.edu 37 19 55995297 55995297 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55995297 55995297 G A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.2737 p.E913K 0.489 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 9 0 0 6 4 40 NLRP9 0 genome.wustl.edu 37 19 56226424 56226424 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 56226424 56226424 A C SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2498 p.L833R 0.048 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 115 0 0 97 16 14.1593 NLRP11 0 genome.wustl.edu 37 19 56307593 56307593 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 56307593 56307593 G A SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.2195 p.A732V 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 101 0 0 83 23 21.6981 LONP1 0 genome.wustl.edu 37 19 5713220 5713220 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 5713220 5713220 G A SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.563 p.T188M 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 80 0 0 44 23 34.3284 ZNF71 0 genome.wustl.edu 37 19 57133494 57133494 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 57133494 57133494 G A SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known missense c.839 p.S280N 0.974 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 74 0 0 52 25 32.4675 ZSCAN22 0 genome.wustl.edu 37 19 58850459 58850459 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 58850459 58850459 C T SNP ZSCAN22 ENST00000329665 human ensembl 74_37 +1 known nonsense c.1243 p.R415* 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 98 0 0 33 38 53.5211 A1BG-AS1 0 genome.wustl.edu 37 19 58864812 58864812 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 58864812 58864812 C T SNP A1BG-AS1 ENST00000593374 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors A1BG-AS1 HGNC ENSG00000268895 12 0 0 8 6 42.8571 ZNF324B 0 genome.wustl.edu 37 19 58967425 58967425 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 58967425 58967425 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.1114 p.A372T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 22 0 0 21 15 41.6667 ZNF324 0 genome.wustl.edu 37 19 58982539 58982539 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 58982539 58982539 T C SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.680 p.V227A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 94 0 0 18 13 41.9355 ZNF446 0 genome.wustl.edu 37 19 58988598 58988598 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 58988598 58988598 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.13 p.L5 0.996 NULL pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 196 0 0 106 67 38.7283 MZF1 0 genome.wustl.edu 37 19 59073494 59073494 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 59073494 59073494 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known missense c.2150 p.R717H 0.979 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 10 0 0 4 5 55.5556 HCN2 0 genome.wustl.edu 37 19 605125 605125 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 605125 605125 T C SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known missense c.1121 p.M374T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 65 0 0 28 18 39.1304 POLRMT 0 genome.wustl.edu 37 19 621231 621231 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 621231 621231 C G SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.2467 p.A823P 1.000 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 27 0 0 12 15 55.5556 SLC25A41 0 genome.wustl.edu 37 19 6429808 6429808 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 6429808 6429808 G T SNP SLC25A41 ENST00000321510 human ensembl 74_37 -1 known missense c.551 p.P184Q 0.123 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,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 47 0 0 12 9 42.8571 TUBB4A 0 genome.wustl.edu 37 19 6495747 6495747 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 6495747 6495747 C T SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.763 p.V255I 1.000 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 75 0 0 59 56 48.6957 INSR 0 genome.wustl.edu 37 19 7184342 7184342 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 7184342 7184342 G A SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.959 p.T320M 0.998 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 36 0 0 31 6 16.2162 PNPLA6 0 genome.wustl.edu 37 19 7620635 7620635 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 7620635 7620635 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.3109 p.R1037W 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 45 0 0 26 28 51.8519 XAB2 0 genome.wustl.edu 37 19 7687526 7687526 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 7687526 7687526 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 smart_TPR_repeat,smart_HAT,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 41 0 0 34 18 34.6154 HNRNPM 0 genome.wustl.edu 37 19 8533700 8533700 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 8533700 8533700 C T SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.877 p.R293C 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 38 0 0 27 15 35.7143 ELANE 0 genome.wustl.edu 37 19 855966 855966 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 855966 855966 C T SNP ELANE ENST00000263621 human ensembl 74_37 +1 known silent c.606 p.S202 0.936 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 46 0 0 45 26 36.6197 MYO1F 0 genome.wustl.edu 37 19 8609213 8609213 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 8609213 8609213 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1492 p.A498T 0.747 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 95 0 0 43 24 35.8209 MUC16 0 genome.wustl.edu 37 19 9057156 9057156 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 9057156 9057156 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30290 p.H10097R 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 107 0 0 57 24 29.6296 MUC16 0 genome.wustl.edu 37 19 9067923 9067923 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 9067923 9067923 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.19523 p.T6508N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 37 0 0 32 23 41.8182 ZNF317 0 genome.wustl.edu 37 19 9270837 9270837 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 9270837 9270837 C T SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.516 p.F172 0.001 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 ZNF317 HGNC ENSG00000130803 51 0 0 28 14 33.3333 WDR18 0 genome.wustl.edu 37 19 984397 984397 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 984397 984397 C T SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.44 p.A15V 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 17 0 0 6 9 60 OLFM2 0 genome.wustl.edu 37 19 9964945 9964945 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 9964945 9964945 C T SNP OLFM2 ENST00000264833 human ensembl 74_37 -1 known missense c.1282 p.A428T 0.999 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM2 HGNC ENSG00000105088 112 0 0 52 36 40.9091 GPR45 0 genome.wustl.edu 37 2 105858894 105858894 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 105858894 105858894 C T SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known silent c.579 p.R193 0.971 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 23 0 0 17 14 45.1613 RGPD3 0 genome.wustl.edu 37 2 107074109 107074109 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 107074109 107074109 G A SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known nonsense c.166 p.R56* 1.000 pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 19 0 0 29 8 21.6216 RGPD4 0 genome.wustl.edu 37 2 108499318 108499318 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 108499318 108499318 C T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.5255 p.A1752V 1.000 superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 52 0 0 44 26 37.1429 ATP6V1C2 0 genome.wustl.edu 37 2 10863007 10863007 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 10863007 10863007 G T SNP ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known missense c.32 p.G11V 0.991 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 75 0 0 40 22 35.4839 RANBP2 0 genome.wustl.edu 37 2 109371659 109371659 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 109371659 109371659 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2410 p.A804T 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 327 1 0.304878 241 35 12.6812 ROCK2 0 genome.wustl.edu 37 2 11356319 11356319 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 11356319 11356319 G A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.1426 p.R476C 0.991 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 129 0 0 56 32 36.3636 PSD4 0 genome.wustl.edu 37 2 113943688 113943688 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 113943688 113943688 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1484 p.T495M 0.001 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 88 0 0 33 32 49.2308 PAX8 0 genome.wustl.edu 37 2 114002038 114002038 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 114002038 114002038 T C SNP PAX8 ENST00000429538 human ensembl 74_37 -1 known missense c.355 p.N119D 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 217 0 0 134 82 37.963 STEAP3 0 genome.wustl.edu 37 2 120020712 120020712 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 120020712 120020712 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1295 p.S432N 0.994 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 144 0 0 51 43 45.7447 INHBB 0 genome.wustl.edu 37 2 121104166 121104166 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 121104166 121104166 C T SNP INHBB ENST00000295228 human ensembl 74_37 +1 known silent c.402 p.A134 1.000 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 16 0 0 7 10 58.8235 INHBB 0 genome.wustl.edu 37 2 121107004 121107004 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 121107004 121107004 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.778 p.V260M 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 101 0 0 47 52 52.5253 GLI2 0 genome.wustl.edu 37 2 121742146 121742146 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 121742146 121742146 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.1783 p.V595I 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 112 0 0 83 50 37.594 CLASP1 0 genome.wustl.edu 37 2 122204972 122204972 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 122204972 122204972 G A SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.1853 p.S618L 0.396 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 15 0 0 8 2 20 RAB6C 0 genome.wustl.edu 37 2 130738154 130738154 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 130738154 130738154 A G SNP RAB6C ENST00000410061 human ensembl 74_37 +1 known missense c.466 p.R156G 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6C HGNC ENSG00000222014 120 0 0 106 7 6.19469 POTEF 0 genome.wustl.edu 37 2 130832170 130832170 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 130832170 130832170 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2875 p.E959K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 12 0 0 14 3 17.6471 CCDC74B 0 genome.wustl.edu 37 2 130899886 130899886 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 130899886 130899886 C T SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.670 p.G224R 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 37 0 0 25 9 26.4706 ARHGEF4 0 genome.wustl.edu 37 2 131803619 131803619 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 131803619 131803619 C T SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.1930 p.R644W 0.994 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 128 0 0 49 42 46.1538 CCDC74A 0 genome.wustl.edu 37 2 132288220 132288220 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 132288220 132288220 G A SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.364 p.G122R 0.001 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 44 0 0 20 5 20 CCDC74A 0 genome.wustl.edu 37 2 132288336 132288336 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 132288336 132288336 G A SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known silent c.480 p.V160 0.040 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 43 0 0 29 9 23.6842 LCT 0 genome.wustl.edu 37 2 136561666 136561666 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 136561666 136561666 C A SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.4497 p.T1499 0.070 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 102 0 0 33 20 37.7358 LRP1B 0 genome.wustl.edu 37 2 141208157 141208157 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 141208157 141208157 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10037 p.S3346F 1.000 pfam_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 100 1 0.990099 73 10 12.0482 STAM2 0 genome.wustl.edu 37 2 152980308 152980308 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 152980308 152980308 C T SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.1321 p.A441T 0.482 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 34 0 0 26 19 42.2222 RPRM 0 genome.wustl.edu 37 2 154334995 154334995 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 154334995 154334995 A G SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.85 p.C29R 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 25 0 0 12 8 40 NBAS 0 genome.wustl.edu 37 2 15534361 15534361 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 15534361 15534361 T C SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.3247 p.T1083A 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 28 0 0 13 8 38.0952 NBAS 0 genome.wustl.edu 37 2 15676570 15676570 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 15676570 15676570 G A SNP NBAS ENST00000281513 human ensembl 74_37 -1 known nonsense c.619 p.R207* 1.000 superfamily_Quino_amine_DH_bsu pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 166 0 0 100 52 34.2105 TANC1 0 genome.wustl.edu 37 2 160053294 160053294 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 160053294 160053294 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.3155 p.G1052D 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 32 0 0 24 12 33.3333 MYCN 0 genome.wustl.edu 37 2 16082320 16082320 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 16082320 16082320 C G SNP MYCN ENST00000281043 human ensembl 74_37 +1 known missense c.134 p.P45R 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 31 0 0 37 5 11.9048 PXDN 0 genome.wustl.edu 37 2 1652681 1652681 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 1652681 1652681 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2871 p.T957 0.008 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 18 0 0 7 8 53.3333 LRP2 0 genome.wustl.edu 37 2 170062048 170062048 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 170062048 170062048 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.7656 p.M2552I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 85 0 0 43 35 44.8718 PPIG 0 genome.wustl.edu 37 2 170493803 170493803 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 170493803 170493803 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.2035 p.E679K 0.882 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 84 0 0 57 31 35.2273 RAPGEF4 0 genome.wustl.edu 37 2 173782536 173782536 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 173782536 173782536 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known nonsense c.451 p.R151* 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 95 0 0 80 53 39.8496 EVX2 0 genome.wustl.edu 37 2 176948108 176948108 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 176948108 176948108 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.397 p.A133T 0.025 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 9 0 0 11 5 31.25 TTN 0 genome.wustl.edu 37 2 179393909 179393909 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179393909 179393909 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.98865 p.Q32955 0.991 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 13 0 0 14 5 26.3158 TTN 0 genome.wustl.edu 37 2 179437710 179437710 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179437710 179437710 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.65445 p.S21815 0.871 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 39 0 0 20 21 51.2195 TTN 0 genome.wustl.edu 37 2 179585746 179585746 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179585746 179585746 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19268 p.T6423M 0.963 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 125 0 0 53 40 43.0108 TTN 0 genome.wustl.edu 37 2 179647124 179647124 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179647124 179647124 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3195 p.T1065 0.001 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 60 0 0 25 18 41.8605 CCDC141 0 genome.wustl.edu 37 2 179736188 179736188 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179736188 179736188 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.2171 p.R724Q 0.002 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 163 0 0 99 96 49.2308 NCKAP1 0 genome.wustl.edu 37 2 183790471 183790471 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 183790471 183790471 A G SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known missense c.3364 p.Y1122H 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 94 0 0 64 41 39.0476 KCTD18 0 genome.wustl.edu 37 2 201363678 201363678 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 201363678 201363678 C T SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.502 p.D168N 0.998 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 124 0 0 116 8 6.45161 TRAK2 0 genome.wustl.edu 37 2 202254126 202254126 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 202254126 202254126 G A SNP TRAK2 ENST00000332624 human ensembl 74_37 -1 known missense c.1294 p.R432C 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK2 HGNC ENSG00000115993 113 0 0 57 32 35.9551 MAP2 0 genome.wustl.edu 37 2 210559607 210559607 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 210559607 210559607 C T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known nonsense c.2713 p.R905* 0.920 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 79 0 0 39 20 33.8983 ATIC 0 genome.wustl.edu 37 2 216214278 216214278 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 216214278 216214278 C T SNP ATIC ENST00000236959 human ensembl 74_37 +1 known missense c.1679 p.A560V 0.925 superfamily_Cytidine_deaminase-like,pirsf_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 78 0 0 52 22 29.7297 CXCR1 0 genome.wustl.edu 37 2 219028909 219028909 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 219028909 219028909 C T SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known silent c.1026 p.S342 0.795 prints_Chemokine_CXCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 112 0 0 56 22 28.2051 ZNF142 0 genome.wustl.edu 37 2 219508172 219508172 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 219508172 219508172 G A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known nonsense c.3067 p.Q1023* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 81 0 0 46 29 38.6667 GMPPA 0 genome.wustl.edu 37 2 220367131 220367131 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 220367131 220367131 G A SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known missense c.457 p.G153S 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 34 0 0 20 11 35.4839 SLC4A3 0 genome.wustl.edu 37 2 220502391 220502391 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 220502391 220502391 G A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2705 p.S902N 0.954 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 60 0 0 29 20 40.8163 GPR55 0 genome.wustl.edu 37 2 231775182 231775182 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 231775182 231775182 A G SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.496 p.Y166H 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 109 0 0 73 48 39.6694 NEU2 0 genome.wustl.edu 37 2 233898912 233898912 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 233898912 233898912 G T SNP NEU2 ENST00000233840 human ensembl 74_37 +1 known silent c.288 p.G96 0.020 superfamily_Sialidases superfamily_Sialidases - no_errors NEU2 HGNC ENSG00000115488 101 0 0 56 45 44.5545 SH3BP4 0 genome.wustl.edu 37 2 235961325 235961325 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 235961325 235961325 G T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.2598 p.K866N 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 12 0 0 11 2 15.3846 ANKMY1 0 genome.wustl.edu 37 2 241492466 241492466 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 241492466 241492466 A G SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known silent c.78 p.H26 0.001 pfam_MORN,smart_MORN pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 33 0 0 12 18 60 ADCY3 0 genome.wustl.edu 37 2 25047345 25047345 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 25047345 25047345 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.2638 p.R880C 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 65 0 0 40 26 39.3939 DNMT3A 0 genome.wustl.edu 37 2 25523110 25523110 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 25523110 25523110 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.75 p.D25 0.999 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 43 0 0 17 10 37.037 EMILIN1 0 genome.wustl.edu 37 2 27306221 27306221 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 27306221 27306221 C T SNP EMILIN1 ENST00000380320 human ensembl 74_37 +1 known silent c.1782 p.R594 0.864 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 67 0 0 22 17 43.5897 IFT172 0 genome.wustl.edu 37 2 27700448 27700448 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 27700448 27700448 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.1199 p.K400R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 55 0 0 31 32 50.7937 CCDC121 0 genome.wustl.edu 37 2 27850362 27850362 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 27850362 27850362 C T SNP CCDC121 ENST00000394775 human ensembl 74_37 -1 known missense c.791 p.R264Q 0.008 NULL NULL - no_errors CCDC121 HGNC ENSG00000176714 205 0 0 158 94 37.3016 GPN1 0 genome.wustl.edu 37 2 27852006 27852006 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 27852006 27852006 G T SNP GPN1 ENST00000264718 human ensembl 74_37 +1 known missense c.123 p.M41I 1.000 pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors GPN1 HGNC ENSG00000198522 91 0 0 45 13 22.4138 XDH 0 genome.wustl.edu 37 2 31588866 31588866 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 31588866 31588866 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2432 p.T811M 0.979 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 63 0 0 43 28 39.4366 BIRC6 0 genome.wustl.edu 37 2 32740783 32740783 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 32740783 32740783 G A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known silent c.11295 p.A3765 0.385 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 46 0 0 28 33 54.0984 HNRNPLL 0 genome.wustl.edu 37 2 38800365 38800365 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 38800365 38800365 C T SNP HNRNPLL ENST00000449105 human ensembl 74_37 -1 known missense c.1079 p.G360E 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPLL HGNC ENSG00000143889 28 0 0 29 13 30.9524 SLC8A1 0 genome.wustl.edu 37 2 40366803 40366803 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 40366803 40366803 G A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.2283 p.D761 0.550 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 151 0 0 75 54 41.8605 SPTBN1 0 genome.wustl.edu 37 2 54853348 54853348 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 54853348 54853348 A G SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.1621 p.M541V 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 32 0 0 13 16 55.1724 AAK1 0 genome.wustl.edu 37 2 69709832 69709832 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 69709832 69709832 G A SNP AAK1 ENST00000406297 human ensembl 74_37 -1 known silent c.2478 p.I826 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AAK1 HGNC ENSG00000115977 30 0 0 22 8 26.6667 ANXA4 0 genome.wustl.edu 37 2 70033620 70033620 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 70033620 70033620 G T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.296 p.R99M 0.003 pfam_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 47 0 0 32 4 11.1111 ALMS1 0 genome.wustl.edu 37 2 73650099 73650099 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 73650099 73650099 T C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.761 p.L254P 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 161 0 0 102 66 39.2857 TCF7L1 0 genome.wustl.edu 37 2 85536360 85536360 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 85536360 85536360 G T SNP TCF7L1 ENST00000282111 human ensembl 74_37 +1 known missense c.1542 p.Q514H 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 48 0 0 42 25 37.3134 EIF2AK3 0 genome.wustl.edu 37 2 88876178 88876178 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 88876178 88876178 C T SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1930 p.A644T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 68 0 0 45 33 42.3077 DUSP2 0 genome.wustl.edu 37 2 96809731 96809731 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 96809731 96809731 G A SNP DUSP2 ENST00000288943 human ensembl 74_37 -1 known missense c.776 p.A259V 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP2 HGNC ENSG00000158050 23 0 0 23 18 43.9024 SNRNP200 0 genome.wustl.edu 37 2 96945252 96945252 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 96945252 96945252 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known silent c.5070 p.H1690 0.093 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 43 0 0 23 18 43.9024 VWA3B 0 genome.wustl.edu 37 2 98928382 98928382 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 98928382 98928382 A G SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.3622 p.K1208E 0.914 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 18 0 0 13 7 35 CNGA3 0 genome.wustl.edu 37 2 98994192 98994192 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 98994192 98994192 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known silent c.144 p.P48 0.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 27 0 0 19 10 34.4828 SLX4IP 0 genome.wustl.edu 37 20 10582435 10582435 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 10582435 10582435 C T SNP SLX4IP ENST00000334534 human ensembl 74_37 +1 known missense c.373 p.R125C 0.000 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 54 0 0 33 15 31.25 SNPH 0 genome.wustl.edu 37 20 1281343 1281343 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 1281343 1281343 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.428 p.R143Q 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 28 0 0 15 14 48.2759 SIRPB1 0 genome.wustl.edu 37 20 1559072 1559072 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 1559072 1559072 G A SNP SIRPB1 ENST00000381605 human ensembl 74_37 -1 known silent c.345 p.A115 0.117 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 213 0 0 112 78 41.0526 RRBP1 0 genome.wustl.edu 37 20 17601385 17601385 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 17601385 17601385 C T SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.3482 p.G1161D 0.006 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 37 0 0 10 12 54.5455 RRBP1 0 genome.wustl.edu 37 20 17601390 17601390 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 17601390 17601390 C A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.3477 p.K1159N 0.110 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 41 0 0 10 13 56.5217 RRBP1 0 genome.wustl.edu 37 20 17617252 17617252 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 17617252 17617252 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.2307 p.H769 0.326 superfamily_Ribosome_recyc_fac_dom pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 95 0 0 62 28 31.1111 RALGAPA2 0 genome.wustl.edu 37 20 20527373 20527373 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 20527373 20527373 C A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.3260 p.R1087M 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 47 0 0 25 10 28.5714 XRN2 0 genome.wustl.edu 37 20 21312221 21312221 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 21312221 21312221 C T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.599 p.A200V 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 87 0 0 34 27 44.2623 XRN2 0 genome.wustl.edu 37 20 21369921 21369921 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 21369921 21369921 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.2798 p.R933K 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 33 0 0 26 13 33.3333 SYNDIG1 0 genome.wustl.edu 37 20 24523741 24523741 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 24523741 24523741 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known missense c.8 p.G3D 0.800 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 117 0 0 40 41 50.6173 IDH3B 0 genome.wustl.edu 37 20 2640407 2640407 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 2640407 2640407 G A SNP IDH3B ENST00000380843 human ensembl 74_37 -1 known silent c.948 p.G316 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3B HGNC ENSG00000101365 141 0 0 78 58 42.6471 ASXL1 0 genome.wustl.edu 37 20 31021635 31021635 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 31021635 31021635 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1634 p.R545H 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 151 0 0 81 58 41.7266 C20orf112 0 genome.wustl.edu 37 20 31044122 31044122 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 31044122 31044122 G A SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known silent c.186 p.G62 0.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 36 0 0 23 14 37.8378 LZTS3 0 genome.wustl.edu 37 20 3146682 3146682 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 3146682 3146682 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.784 p.G262S 0.294 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 49 0 0 32 17 34.6939 CBFA2T2 0 genome.wustl.edu 37 20 32232182 32232182 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 32232182 32232182 C T SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1545 p.S515 0.960 pfam_Znf_MYND,pfscan_Znf_MYND pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 87 0 0 51 29 36.25 PXMP4 0 genome.wustl.edu 37 20 32298427 32298427 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 32298427 32298427 G A SNP PXMP4 ENST00000217398 human ensembl 74_37 -1 putative missense c.329 p.T110M 0.998 NULL NULL - no_errors PXMP4 HGNC ENSG00000101417 78 0 0 35 41 53.9474 GDF5 0 genome.wustl.edu 37 20 34022216 34022216 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 34022216 34022216 C T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known missense c.997 p.A333T 0.999 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 52 0 0 34 33 49.2537 PHF20 0 genome.wustl.edu 37 20 34526962 34526962 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 34526962 34526962 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2644 p.R882C 0.445 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 78 0 0 28 16 36.3636 NDRG3 0 genome.wustl.edu 37 20 35310930 35310930 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 35310930 35310930 G A SNP NDRG3 ENST00000349004 human ensembl 74_37 -1 known silent c.435 p.S145 1.000 pfam_Ndr,pfam_AB_hydrolase_1 pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 92 0 0 85 8 8.60215 SIGLEC1 0 genome.wustl.edu 37 20 3669866 3669866 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 3669866 3669866 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known missense c.5006 p.R1669H 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 143 0 0 69 47 40.5172 TOP1 0 genome.wustl.edu 37 20 39728804 39728804 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 39728804 39728804 C T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.1084 p.R362C 1.000 pfam_TopoI_DNA-bd_euk,superfamily_TopoI_DNA-bd_euk,smart_TopoI_euk,prints_TopoI pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 60 0 0 52 25 32.4675 CHD6 0 genome.wustl.edu 37 20 40034022 40034022 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 40034022 40034022 A G SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known silent c.7359 p.A2453 0.053 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 50 0 0 36 24 40 ADRA1D 0 genome.wustl.edu 37 20 4229097 4229097 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 4229097 4229097 C T SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.508 p.D170N 1.000 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,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 15 0 0 10 8 44.4444 CTSA 0 genome.wustl.edu 37 20 44527011 44527011 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 44527011 44527011 C T SNP CTSA ENST00000372484 human ensembl 74_37 +1 known silent c.1419 p.A473 0.300 pfam_Peptidase_S10,prints_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CTSA HGNC ENSG00000064601 23 0 0 14 7 33.3333 PRND 0 genome.wustl.edu 37 20 4705664 4705664 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 4705664 4705664 G A SNP PRND ENST00000305817 human ensembl 74_37 +1 known missense c.467 p.R156Q 0.000 pfam_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 62 0 0 21 11 34.375 ARFGEF2 0 genome.wustl.edu 37 20 47630185 47630185 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 47630185 47630185 G A SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.4003 p.E1335K 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 97 0 0 52 31 37.3494 PTGIS 0 genome.wustl.edu 37 20 48156225 48156225 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 48156225 48156225 C T SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known silent c.555 p.A185 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 25 0 0 9 14 60.8696 MC3R 0 genome.wustl.edu 37 20 54824818 54824818 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 54824818 54824818 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.919 p.R307C 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 196 0 0 72 59 45.0382 ZBP1 0 genome.wustl.edu 37 20 56190020 56190020 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 56190020 56190020 C T SNP ZBP1 ENST00000343535 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.082 pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 232 0 0 102 56 35.443 ZNF831 0 genome.wustl.edu 37 20 57767064 57767064 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 57767064 57767064 G T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.990 p.K330N 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 31 0 0 14 19 57.5758 TCF15 0 genome.wustl.edu 37 20 590455 590455 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 590455 590455 C T SNP TCF15 ENST00000246080 human ensembl 74_37 -1 known missense c.427 p.A143T 0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF15 HGNC ENSG00000125878 17 0 0 3 2 40 MCM8 0 genome.wustl.edu 37 20 5952655 5952655 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 5952655 5952655 C T SNP MCM8 ENST00000378896 human ensembl 74_37 +1 known missense c.1226 p.S409L 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 110 0 0 43 33 43.4211 LRRN4 0 genome.wustl.edu 37 20 6021949 6021949 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 6021949 6021949 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.1942 p.R648C 0.647 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 22 0 0 15 15 50 LAMA5 0 genome.wustl.edu 37 20 60887969 60887969 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 60887969 60887969 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9053 p.P3018L 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 35 0 0 20 11 35.4839 LAMA5 0 genome.wustl.edu 37 20 60897443 60897443 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 60897443 60897443 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.6228 p.A2076 0.001 pfam_EGF_laminin,smart_EG-like_dom,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 13 0 0 7 6 46.1538 DIDO1 0 genome.wustl.edu 37 20 61513747 61513747 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 61513747 61513747 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.3561 p.P1187 0.959 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 70 0 0 58 34 36.9565 SLC17A9 0 genome.wustl.edu 37 20 61595621 61595621 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 61595621 61595621 G A SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.864 p.P288 0.013 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 299 0 0 159 91 36.4 KCNQ2 0 genome.wustl.edu 37 20 62065156 62065156 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 62065156 62065156 C T SNP KCNQ2 ENST00000344425 human ensembl 74_37 -1 known missense c.1124 p.R375H 0.007 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 117 0 0 61 42 40.7767 HELZ2 0 genome.wustl.edu 37 20 62203698 62203698 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 62203698 62203698 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.41 p.R14Q 0.093 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 12 0 0 3 3 50 TPTE 0 genome.wustl.edu 37 21 10934079 10934079 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 10934079 10934079 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.898 p.V300I 0.066 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 365 0 0 221 35 13.6719 NCAM2 0 genome.wustl.edu 37 21 22656690 22656690 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 22656690 22656690 C G SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.307 p.Q103E 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 29 0 0 36 19 34.5455 ADAMTS1 0 genome.wustl.edu 37 21 28216559 28216559 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 28216559 28216559 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.715 p.V239I 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 24 0 0 19 2 9.52381 ADAMTS1 0 genome.wustl.edu 37 21 28216622 28216622 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 28216622 28216622 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.652 p.E218K 0.002 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 16 0 0 11 13 54.1667 KRTAP19-3 0 genome.wustl.edu 37 21 31864263 31864263 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 31864263 31864263 C T SNP KRTAP19-3 ENST00000334063 human ensembl 74_37 -1 known missense c.13 p.G5S 0.001 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-3 HGNC ENSG00000244025 150 0 0 102 58 36.25 DNAJC28 0 genome.wustl.edu 37 21 34861110 34861110 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 34861110 34861110 C T SNP DNAJC28 ENST00000314399 human ensembl 74_37 -1 known silent c.591 p.T197 0.972 NULL pfam_DnaJ_homolog_subfam-C_membr-28,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC28 HGNC ENSG00000177692 174 0 0 108 72 40 GART 0 genome.wustl.edu 37 21 34903056 34903056 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 34903056 34903056 G A SNP GART ENST00000497313 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors GART HGNC ENSG00000159131 48 0 0 29 18 38.2979 MORC3 0 genome.wustl.edu 37 21 37741742 37741742 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 37741742 37741742 A G SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.2076 p.A692 0.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 42 0 0 51 31 37.8049 CLDN14 0 genome.wustl.edu 37 21 37833534 37833534 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 37833534 37833534 T C SNP CLDN14 ENST00000342108 human ensembl 74_37 -1 known missense c.460 p.S154G 0.069 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2 - no_errors CLDN14 HGNC ENSG00000159261 95 0 0 80 6 6.97674 CLDN14 0 genome.wustl.edu 37 21 37833611 37833611 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 37833611 37833611 G A SNP CLDN14 ENST00000342108 human ensembl 74_37 -1 known missense c.383 p.A128V 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2 - no_errors CLDN14 HGNC ENSG00000159261 80 0 0 87 10 10.3093 ETS2 0 genome.wustl.edu 37 21 40186201 40186201 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 40186201 40186201 C T SNP ETS2 ENST00000360214 human ensembl 74_37 +1 known silent c.189 p.S63 0.000 superfamily_SAM/pointed,pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS2 HGNC ENSG00000157557 130 0 0 72 57 44.186 PRDM15 0 genome.wustl.edu 37 21 43231123 43231123 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 43231123 43231123 T C SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.3560 p.K1187R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 69 0 0 34 25 42.3729 ZBTB21 0 genome.wustl.edu 37 21 43411609 43411609 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 43411609 43411609 C T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2596 p.E866K 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 105 0 0 73 49 40.1639 LRRC3 0 genome.wustl.edu 37 21 45877042 45877042 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 45877042 45877042 G A SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.515 p.C172Y 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 54 0 0 36 18 33.3333 KRTAP10-12 0 genome.wustl.edu 37 21 46117692 46117692 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 46117692 46117692 C T SNP KRTAP10-12 ENST00000400365 human ensembl 74_37 +1 known silent c.576 p.S192 1.000 NULL NULL - no_errors KRTAP10-12 HGNC ENSG00000189169 194 0 0 114 87 43.2836 SUMO3 0 genome.wustl.edu 37 21 46233931 46233931 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 46233931 46233931 G A SNP SUMO3 ENST00000411651 human ensembl 74_37 -1 known missense c.110 p.T37M 1.000 pfam_Rad60/SUMO_like pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors SUMO3 HGNC ENSG00000184900 184 1 0.540541 73 41 35.9649 ITGB2 0 genome.wustl.edu 37 21 46330685 46330685 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 46330685 46330685 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.13 p.R5C 0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 50 0 0 12 10 45.4545 COL6A2 0 genome.wustl.edu 37 21 47552299 47552299 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 47552299 47552299 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2893 p.R965C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 33 0 0 23 16 41.0256 MCM3AP 0 genome.wustl.edu 37 21 47663638 47663638 + Splice_Site SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 47663638 47663638 T C SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known splice_site c.5039-2 e24-2 1.000 - - - no_errors MCM3AP HGNC ENSG00000160294 40 0 0 12 20 62.5 MCM3AP 0 genome.wustl.edu 37 21 47686064 47686064 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 47686064 47686064 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.2806 p.R936W 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 269 0 0 112 66 37.0787 PCNT 0 genome.wustl.edu 37 21 47841990 47841990 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 47841990 47841990 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.7131 p.P2377 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 82 0 0 34 11 24.4444 PRMT2 0 genome.wustl.edu 37 21 48083456 48083456 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 48083456 48083456 C G SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known missense c.1259 p.T420R 0.042 NULL pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 38 0 0 29 22 43.1373 POTEH 0 genome.wustl.edu 37 22 16267071 16267071 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 16267071 16267071 C T SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.1378 p.G460R 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 501 0 0 342 39 10.2362 MICAL3 0 genome.wustl.edu 37 22 18379717 18379717 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 18379717 18379717 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known nonsense c.979 p.R327* 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 112 0 0 33 21 38.8889 MRPL40 0 genome.wustl.edu 37 22 19420868 19420868 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 19420868 19420868 T C SNP MRPL40 ENST00000333130 human ensembl 74_37 +1 known missense c.134 p.M45T 0.999 pfam_Ribosomal_L28/L40_mit pfam_Ribosomal_L28/L40_mit - no_errors MRPL40 HGNC ENSG00000185608 46 0 0 13 11 45.8333 ZDHHC8 0 genome.wustl.edu 37 22 20130311 20130311 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 20130311 20130311 C T SNP ZDHHC8 ENST00000405930 human ensembl 74_37 +1 known silent c.1158 p.D386 0.896 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ENSG00000099904 44 0 0 24 11 31.4286 MED15 0 genome.wustl.edu 37 22 20940112 20940112 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 20940112 20940112 C T SNP MED15 ENST00000263205 human ensembl 74_37 +1 known silent c.2229 p.Y743 0.982 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 44 0 0 17 9 34.6154 PI4KA 0 genome.wustl.edu 37 22 21065106 21065106 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 21065106 21065106 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.5964 p.L1988 0.951 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 59 0 0 33 16 32.6531 SLC7A4 0 genome.wustl.edu 37 22 21385285 21385285 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 21385285 21385285 C T SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.817 p.A273T 0.993 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 26 0 0 23 10 30.303 MAPK1 0 genome.wustl.edu 37 22 22160224 22160224 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 22160224 22160224 C T SNP MAPK1 ENST00000215832 human ensembl 74_37 -1 known missense c.407 p.G136E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 142 1 0.699301 90 59 39.5973 BMS1P20 0 genome.wustl.edu 37 22 22664639 22664639 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 22664639 22664639 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 37 0 0 48 5 9.43396 ZDHHC8P1 0 genome.wustl.edu 37 22 23742397 23742397 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 23742397 23742397 G A SNP ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 36 0 0 13 15 53.5714 ENSG00000272578 0 genome.wustl.edu 37 22 24034789 24034789 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 24034789 24034789 G A SNP ENSG00000272578 ENST00000417194 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000347.2 Clone_based_vega_gene ENSG00000272578 30 0 0 19 20 51.2821 SMARCB1 0 genome.wustl.edu 37 22 24145518 24145518 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 24145518 24145518 C T SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known silent c.537 p.N179 0.854 pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 137 0 0 76 57 42.8571 TFIP11 0 genome.wustl.edu 37 22 26892177 26892177 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 26892177 26892177 G A SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.1711 p.R571C 1.000 pfam_GCFC_dom pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 46 0 0 56 37 39.7849 EWSR1 0 genome.wustl.edu 37 22 29668385 29668385 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 29668385 29668385 G A SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.67 p.A23T 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 44 0 0 46 53 53.5354 PISD 0 genome.wustl.edu 37 22 32015765 32015765 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 32015765 32015765 C T SNP PISD ENST00000439502 human ensembl 74_37 -1 known missense c.1063 p.V355M 0.992 pfam_PS_Dcarbxylase,tigrfam_PS_decarb pfam_PS_Dcarbxylase,tigrfam_PS_decarb - no_errors PISD HGNC ENSG00000241878 50 0 0 22 15 40.5405 SLC5A1 0 genome.wustl.edu 37 22 32462978 32462978 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 32462978 32462978 C T SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known silent c.264 p.A88 0.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 72 0 0 42 33 44 RBFOX2 0 genome.wustl.edu 37 22 36205885 36205885 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 36205885 36205885 G A SNP RBFOX2 ENST00000438146 human ensembl 74_37 -1 known missense c.404 p.T135M 0.272 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC ENSG00000100320 223 0 0 126 87 40.8451 IL2RB 0 genome.wustl.edu 37 22 37533717 37533717 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 37533717 37533717 G A SNP IL2RB ENST00000216223 human ensembl 74_37 -1 known silent c.447 p.N149 0.210 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RB HGNC ENSG00000100385 85 0 0 68 6 8.10811 CARD10 0 genome.wustl.edu 37 22 37912253 37912253 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 37912253 37912253 C T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known silent c.426 p.R142 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 22 0 0 7 5 41.6667 GGA1 0 genome.wustl.edu 37 22 38027012 38027012 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 38027012 38027012 C T SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known silent c.1434 p.T478 0.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 110 0 0 37 27 42.1875 BAIAP2L2 0 genome.wustl.edu 37 22 38484757 38484757 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 38484757 38484757 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known silent c.1116 p.S372 0.088 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 26 0 0 13 7 35 SUN2 0 genome.wustl.edu 37 22 39135931 39135931 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 39135931 39135931 C T SNP SUN2 ENST00000216064 human ensembl 74_37 -1 known silent c.1374 p.P458 0.195 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 150 0 0 53 46 46.4646 TAB1 0 genome.wustl.edu 37 22 39817833 39817833 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 39817833 39817833 G A SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.778 p.A260T 0.134 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 72 0 0 32 32 50 CACNA1I 0 genome.wustl.edu 37 22 40074042 40074042 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 40074042 40074042 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.5002 p.E1668K 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 13 0 0 4 7 63.6364 MCHR1 0 genome.wustl.edu 37 22 41077720 41077720 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 41077720 41077720 C T SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.1057 p.R353C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 74 0 0 61 39 39 XPNPEP3 0 genome.wustl.edu 37 22 41258071 41258071 + RNA SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 41258071 41258071 G C SNP XPNPEP3 ENST00000482652 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors XPNPEP3 HGNC ENSG00000196236 45 0 0 20 15 42.8571 CYP2D6 0 genome.wustl.edu 37 22 42523877 42523877 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 42523877 42523877 G T SNP CYP2D6 ENST00000360608 human ensembl 74_37 -1 known missense c.952 p.L318I 0.820 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 112 0 0 49 39 44.3182 FAM118A 0 genome.wustl.edu 37 22 45719294 45719294 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 45719294 45719294 C T SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.286 p.R96W 1.000 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 76 0 0 42 27 39.1304 FBLN1 0 genome.wustl.edu 37 22 45996196 45996196 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 45996196 45996196 G A SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1982 p.R661H 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 280 0 0 135 108 44.4444 CELSR1 0 genome.wustl.edu 37 22 46930415 46930415 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 46930415 46930415 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.2653 p.A885T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 31 0 0 26 24 48 CELSR1 0 genome.wustl.edu 37 22 46931760 46931760 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 46931760 46931760 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.1308 p.P436 0.170 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 27 0 0 18 12 40 TTLL8 0 genome.wustl.edu 37 22 50470410 50470410 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 50470410 50470410 C T SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known missense c.1412 p.R471H 0.977 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 37 0 0 28 16 36.3636 IMPG2 0 genome.wustl.edu 37 3 101023021 101023021 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 101023021 101023021 T C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.470 p.E157G 1.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 122 0 0 86 51 37.2263 SEC13 0 genome.wustl.edu 37 3 10357042 10357042 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 10357042 10357042 G A SNP SEC13 ENST00000350697 human ensembl 74_37 -1 known missense c.127 p.R43C 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC13 HGNC ENSG00000157020 60 0 0 24 25 51.0204 CD200R1L 0 genome.wustl.edu 37 3 112546413 112546413 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 112546413 112546413 G A SNP CD200R1L ENST00000398214 human ensembl 74_37 -1 known silent c.231 p.C77 0.058 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1L HGNC ENSG00000206531 109 0 0 76 54 41.5385 SPICE1 0 genome.wustl.edu 37 3 113184616 113184616 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 113184616 113184616 G A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known missense c.1171 p.R391C 1.000 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 59 0 0 29 23 44.2308 KIAA2018 0 genome.wustl.edu 37 3 113374252 113374252 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 113374252 113374252 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.6277 p.T2093A 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 80 0 0 60 49 44.9541 ZBTB20 0 genome.wustl.edu 37 3 114069778 114069778 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 114069778 114069778 T C SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.1147 p.I383V 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 42 0 0 39 23 37.0968 C3orf30 0 genome.wustl.edu 37 3 118866168 118866168 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 118866168 118866168 G T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.1132 p.G378C 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 35 0 0 32 24 42.8571 ARHGAP31 0 genome.wustl.edu 37 3 119120866 119120866 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 119120866 119120866 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1267 p.A423T 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 63 0 0 33 23 41.0714 MAATS1 0 genome.wustl.edu 37 3 119434407 119434407 + Splice_Site SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 119434407 119434407 A G SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known splice_site c.501-2 e6-2 1.000 - - - no_errors MAATS1 HGNC ENSG00000183833 153 0 0 119 61 33.8889 UROC1 0 genome.wustl.edu 37 3 126236457 126236457 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 126236457 126236457 G T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.106 p.L36I 0.928 NULL pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 28 0 0 16 6 27.2727 PLXNA1 0 genome.wustl.edu 37 3 126733584 126733584 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 126733584 126733584 C A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.2787 p.S929 0.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 24 0 0 15 5 25 EEFSEC 0 genome.wustl.edu 37 3 128060188 128060188 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 128060188 128060188 G A SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.899 p.R300H 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,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 EEFSEC HGNC ENSG00000132394 64 0 0 26 34 56.6667 IQSEC1 0 genome.wustl.edu 37 3 12949857 12949857 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 12949857 12949857 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.2789 p.S930L 0.999 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 51 0 0 27 10 27.027 ASTE1 0 genome.wustl.edu 37 3 130743433 130743433 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 130743433 130743433 G A SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.718 p.R240C 0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 61 0 0 49 32 39.5062 NUP210 0 genome.wustl.edu 37 3 13461721 13461721 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 13461721 13461721 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.6 p.A2 0.057 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 10 0 0 1 2 66.6667 NCK1 0 genome.wustl.edu 37 3 136664467 136664467 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 136664467 136664467 C T SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known missense c.269 p.A90V 1.000 superfamily_SH3_domain,pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 100 1 0.990099 77 6 7.22892 FBLN2 0 genome.wustl.edu 37 3 13672308 13672308 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 13672308 13672308 C A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known silent c.3078 p.T1026 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 10 0 0 3 3 50 SPSB4 0 genome.wustl.edu 37 3 140785469 140785469 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 140785469 140785469 G A SNP SPSB4 ENST00000310546 human ensembl 74_37 +1 known missense c.523 p.D175N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB4 HGNC ENSG00000175093 15 0 0 13 5 27.7778 XRN1 0 genome.wustl.edu 37 3 142151518 142151518 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 142151518 142151518 C T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.293 p.R98H 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 19 0 0 17 10 37.037 PLSCR1 0 genome.wustl.edu 37 3 146233845 146233845 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 146233845 146233845 G A SNP PLSCR1 ENST00000342435 human ensembl 74_37 -1 known missense c.944 p.S315L 0.000 NULL pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR1 HGNC ENSG00000188313 86 0 0 30 29 49.1525 ZIC1 0 genome.wustl.edu 37 3 147128311 147128311 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 147128311 147128311 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.412 p.A138T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 26 0 0 6 4 40 FGD5 0 genome.wustl.edu 37 3 14861889 14861889 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 14861889 14861889 C T SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.1311 p.P437 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 39 0 0 22 18 45 AADAC 0 genome.wustl.edu 37 3 151545391 151545391 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 151545391 151545391 A G SNP AADAC ENST00000232892 human ensembl 74_37 +1 known missense c.631 p.K211E 0.997 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 56 0 0 43 27 38.5714 GFM1 0 genome.wustl.edu 37 3 158383230 158383230 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 158383230 158383230 A G SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.1485 p.G495 0.988 superfamily_EFG_III-V,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 48 0 0 62 4 6.06061 MFSD1 0 genome.wustl.edu 37 3 158541915 158541915 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 158541915 158541915 T C SNP MFSD1 ENST00000415822 human ensembl 74_37 +1 known missense c.1325 p.M442T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD1 HGNC ENSG00000118855 331 0 0 308 25 7.50751 WDR49 0 genome.wustl.edu 37 3 167248986 167248986 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 167248986 167248986 C T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1079 p.R360H 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 101 1 0.980392 42 32 43.2432 PLD1 0 genome.wustl.edu 37 3 171427481 171427481 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 171427481 171427481 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known silent c.930 p.C310 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 64 0 0 57 37 39.3617 SPATA16 0 genome.wustl.edu 37 3 172835263 172835263 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 172835263 172835263 C T SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.259 p.E87K 0.994 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 205 0 0 121 84 40.9756 PIK3CA 0 genome.wustl.edu 37 3 178916891 178916891 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 178916891 178916891 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.278 p.R93Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 85 0 0 63 50 44.2478 PIK3CA 0 genome.wustl.edu 37 3 178936096 178936096 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 178936096 178936096 G T SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1638 p.Q546H 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 78 0 0 31 28 47.4576 PSMD2 0 genome.wustl.edu 37 3 184020259 184020259 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 184020259 184020259 C T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.806 p.A269V 0.997 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 65 0 0 27 23 46 EPHB3 0 genome.wustl.edu 37 3 184298851 184298851 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 184298851 184298851 G A SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.2630 p.R877Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 79 0 0 38 43 53.0864 DNAJB11 0 genome.wustl.edu 37 3 186302256 186302256 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 186302256 186302256 C T SNP DNAJB11 ENST00000265028 human ensembl 74_37 +1 known missense c.890 p.A297V 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 34 0 0 29 18 38.2979 PAK2 0 genome.wustl.edu 37 3 196554152 196554152 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 196554152 196554152 G A SNP PAK2 ENST00000327134 human ensembl 74_37 +1 known missense c.1436 p.R479Q 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_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK2 HGNC ENSG00000180370 90 0 0 55 55 50 DLG1 0 genome.wustl.edu 37 3 196846372 196846372 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 196846372 196846372 T C SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.1294 p.S432G 1.000 pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 102 0 0 50 32 39.0244 IQCG 0 genome.wustl.edu 37 3 197639710 197639710 + RNA SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 197639710 197639710 T C SNP IQCG ENST00000469822 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors IQCG HGNC ENSG00000114473 43 0 0 23 26 53.0612 IQCG 0 genome.wustl.edu 37 3 197670853 197670853 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 197670853 197670853 G A SNP IQCG ENST00000265239 human ensembl 74_37 -1 known silent c.78 p.G26 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 176 0 0 87 59 40.411 STT3B 0 genome.wustl.edu 37 3 31674521 31674521 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 31674521 31674521 C T SNP STT3B ENST00000295770 human ensembl 74_37 +1 known missense c.2282 p.T761I 1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 86 0 0 70 51 42.1488 TRIM71 0 genome.wustl.edu 37 3 32859730 32859730 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 32859730 32859730 C G SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.158 p.A53G 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 14 0 0 3 6 66.6667 TRIM71 0 genome.wustl.edu 37 3 32932608 32932608 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 32932608 32932608 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.1912 p.A638T 0.001 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 30 0 0 22 14 38.8889 DLEC1 0 genome.wustl.edu 37 3 38101313 38101313 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 38101313 38101313 G A SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.643 p.D215N 0.004 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 230 0 0 91 86 48.5876 RPSA 0 genome.wustl.edu 37 3 39453212 39453212 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 39453212 39453212 C T SNP RPSA ENST00000301821 human ensembl 74_37 +1 known missense c.571 p.R191C 1.000 superfamily_Ribosomal_S2_flav_dom,tigrfam_Ribosomal_S2_euk/arc pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2,tigrfam_Ribosomal_S2_euk/arc - no_errors RPSA HGNC ENSG00000168028 46 0 0 23 14 37.8378 MYRIP 0 genome.wustl.edu 37 3 40251426 40251426 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 40251426 40251426 C T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1747 p.R583W 0.987 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 95 0 0 70 36 33.9623 XCR1 0 genome.wustl.edu 37 3 46063062 46063062 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 46063062 46063062 G A SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known silent c.378 p.H126 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 15 0 0 11 11 50 PRSS45 0 genome.wustl.edu 37 3 46786212 46786212 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 46786212 46786212 G A SNP PRSS45 ENST00000442359 human ensembl 74_37 -1 known missense c.34 p.R12W 0.013 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS45 HGNC ENSG00000188086 26 0 0 13 8 38.0952 SMARCC1 0 genome.wustl.edu 37 3 47779562 47779562 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 47779562 47779562 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.440 p.R147H 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 41 0 0 17 6 26.087 ITPR1 0 genome.wustl.edu 37 3 4829715 4829715 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 4829715 4829715 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known nonsense c.6655 p.R2219* 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 22 0 0 13 5 27.7778 PLXNB1 0 genome.wustl.edu 37 3 48459679 48459679 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 48459679 48459679 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.3143 p.R1048H 0.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 25 0 0 18 14 43.75 CELSR3 0 genome.wustl.edu 37 3 48686617 48686617 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 48686617 48686617 C A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.6519 p.Q2173H 0.868 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 19 0 0 7 6 46.1538 CELSR3 0 genome.wustl.edu 37 3 48699637 48699637 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 48699637 48699637 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.431 p.R144Q 0.011 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 162 0 0 67 53 44.1667 BSN 0 genome.wustl.edu 37 3 49698234 49698234 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 49698234 49698234 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.8956 p.R2986C 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 41 0 0 27 17 38.6364 IP6K1 0 genome.wustl.edu 37 3 49785304 49785304 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 49785304 49785304 C T SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.170 p.R57H 1.000 NULL pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 45 0 0 33 30 47.619 DOCK3 0 genome.wustl.edu 37 3 51308421 51308421 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 51308421 51308421 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.2531 p.R844H 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 151 0 0 61 37 37.7551 IQCF1 0 genome.wustl.edu 37 3 51929286 51929286 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 51929286 51929286 G A SNP IQCF1 ENST00000310914 human ensembl 74_37 -1 known missense c.238 p.R80W 0.998 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 74 0 0 39 24 38.0952 ALAS1 0 genome.wustl.edu 37 3 52233439 52233439 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 52233439 52233439 C A SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known missense c.182 p.T61N 0.828 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 57 0 0 42 25 37.3134 RFT1 0 genome.wustl.edu 37 3 53126488 53126488 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 53126488 53126488 C T SNP RFT1 ENST00000296292 human ensembl 74_37 -1 known missense c.1355 p.R452H 0.959 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 39 0 0 7 5 41.6667 CHDH 0 genome.wustl.edu 37 3 53856562 53856562 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 53856562 53856562 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known missense c.811 p.R271C 0.973 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 48 0 0 24 12 33.3333 CACNA2D3 0 genome.wustl.edu 37 3 54914835 54914835 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 54914835 54914835 G A SNP CACNA2D3 ENST00000477024 human ensembl 74_37 +1 known missense c.1513 p.A505T 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 278 0 0 110 81 42.4084 ARHGEF3 0 genome.wustl.edu 37 3 56771219 56771219 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 56771219 56771219 C T SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known silent c.1131 p.R377 0.943 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 92 0 0 55 29 34.5238 ATXN7 0 genome.wustl.edu 37 3 63938114 63938114 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 63938114 63938114 G A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.454 p.D152N 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 72 0 0 44 35 44.3038 MAGI1 0 genome.wustl.edu 37 3 65342797 65342797 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 65342797 65342797 G A SNP MAGI1 ENST00000330909 human ensembl 74_37 -1 known missense c.3818 p.A1273V 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 61 0 0 35 4 10.2564 GPR27 0 genome.wustl.edu 37 3 71803976 71803976 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 71803976 71803976 G A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.776 p.R259Q 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 12 0 0 3 4 57.1429 PDZRN3 0 genome.wustl.edu 37 3 73673912 73673912 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 73673912 73673912 T C SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.65 p.H22R 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 12 0 0 5 3 37.5 ROBO2 0 genome.wustl.edu 37 3 77614178 77614178 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 77614178 77614178 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.1756 p.R586W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 87 0 0 48 29 37.6623 ROBO1 0 genome.wustl.edu 37 3 78717036 78717036 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 78717036 78717036 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known nonsense c.1963 p.Q655* 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 43 0 0 21 15 41.6667 SRGAP3 0 genome.wustl.edu 37 3 9027584 9027584 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 9027584 9027584 G A SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known silent c.2919 p.H973 0.206 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 63 0 0 28 16 36.3636 SRGAP3 0 genome.wustl.edu 37 3 9094775 9094775 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 9094775 9094775 A G SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.1259 p.M420T 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 101 0 0 46 23 33.3333 IL17RC 0 genome.wustl.edu 37 3 9972608 9972608 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 9972608 9972608 G T SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.1581 p.W527C 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 165 0 0 88 55 38.4615 SLC39A8 0 genome.wustl.edu 37 4 103189153 103189153 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 103189153 103189153 C T SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known silent c.924 p.T308 0.470 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 116 0 0 58 41 41.4141 CFI 0 genome.wustl.edu 37 4 110667424 110667424 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 110667424 110667424 G A SNP CFI ENST00000394634 human ensembl 74_37 -1 known silent c.1383 p.F461 0.276 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 68 0 0 43 33 43.4211 EGF 0 genome.wustl.edu 37 4 110882030 110882030 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 110882030 110882030 T C SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.1074 p.N358 0.967 pirsf_Pro-epidermal_GF,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 55 0 0 35 28 44.4444 ALPK1 0 genome.wustl.edu 37 4 113351824 113351824 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 113351824 113351824 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.1121 p.T374M 0.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 50 0 0 42 34 44.7368 ANK2 0 genome.wustl.edu 37 4 114199668 114199668 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 114199668 114199668 C T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.1835 p.A612V 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_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 66 0 0 41 23 35.9375 ADAD1 0 genome.wustl.edu 37 4 123342458 123342458 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 123342458 123342458 T C SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1530 p.C510 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 78 0 0 36 21 36.8421 BBS12 0 genome.wustl.edu 37 4 123663986 123663986 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 123663986 123663986 A G SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known silent c.939 p.S313 0.190 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 32 0 0 29 19 39.5833 PCDH10 0 genome.wustl.edu 37 4 134071394 134071394 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 134071394 134071394 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.99 p.F33 1.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 152 0 0 59 50 45.8716 PCDH10 0 genome.wustl.edu 37 4 134073108 134073108 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 134073108 134073108 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1813 p.A605T 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 PCDH10 HGNC ENSG00000138650 54 0 0 26 18 40.9091 USP38 0 genome.wustl.edu 37 4 144107096 144107096 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 144107096 144107096 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.493 p.I165V 0.004 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 96 0 0 68 49 41.8803 USP38 0 genome.wustl.edu 37 4 144141531 144141531 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 144141531 144141531 C T SNP USP38 ENST00000307017 human ensembl 74_37 +1 known silent c.3051 p.N1017 0.999 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 72 0 0 43 22 33.8462 SMARCA5 0 genome.wustl.edu 37 4 144467126 144467126 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 144467126 144467126 G A SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known missense c.2446 p.E816K 1.000 pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 132 0 0 138 17 10.9677 HHIP 0 genome.wustl.edu 37 4 145567864 145567864 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 145567864 145567864 G C SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.37 p.A13P 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 119 0 0 58 33 36.2637 HHIP 0 genome.wustl.edu 37 4 145635449 145635449 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 145635449 145635449 G A SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1496 p.G499D 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 50 0 0 25 17 40.4762 DCLK2 0 genome.wustl.edu 37 4 151119187 151119187 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 151119187 151119187 C A SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.893 p.S298Y 0.884 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 76 0 0 37 17 31.4815 LRBA 0 genome.wustl.edu 37 4 151770151 151770151 + Splice_Site SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 151770151 151770151 C T SNP LRBA ENST00000357115 human ensembl 74_37 -1 known splice_site c.4159-1 e25-1 1.000 - - - no_errors LRBA HGNC ENSG00000198589 84 0 0 61 45 42.4528 KIAA0922 0 genome.wustl.edu 37 4 154502038 154502038 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 154502038 154502038 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.721 p.V241M 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 42 0 0 28 19 40.4255 FGB 0 genome.wustl.edu 37 4 155490691 155490691 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 155490691 155490691 A C SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.984 p.K328N 0.996 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 106 0 0 56 37 39.7849 FBXL5 0 genome.wustl.edu 37 4 15607351 15607351 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 15607351 15607351 C T SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known missense c.2071 p.E691K 1.000 NULL pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 46 0 0 16 15 48.3871 FSTL5 0 genome.wustl.edu 37 4 162402250 162402250 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 162402250 162402250 T G SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1530 p.K510N 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 167 0 0 69 55 44.3548 DDX60L 0 genome.wustl.edu 37 4 169337880 169337880 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 169337880 169337880 G T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known silent c.2679 p.P893 0.945 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 - no_errors DDX60L HGNC ENSG00000181381 93 0 0 55 21 27.6316 NEIL3 0 genome.wustl.edu 37 4 178283483 178283483 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 178283483 178283483 G A SNP NEIL3 ENST00000264596 human ensembl 74_37 +1 known missense c.1676 p.R559H 1.000 pfam_Znf_GRF pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 58 0 0 53 19 26.3889 ENPP6 0 genome.wustl.edu 37 4 185138760 185138760 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 185138760 185138760 C T SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known silent c.213 p.S71 0.062 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 66 0 0 33 20 37.7358 HELT 0 genome.wustl.edu 37 4 185941544 185941544 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 185941544 185941544 C T SNP HELT ENST00000338875 human ensembl 74_37 +1 known missense c.602 p.A201V 1.000 pfam_Orange,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 143 0 0 63 37 37 TRIML2 0 genome.wustl.edu 37 4 189012847 189012847 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 189012847 189012847 C T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.844 p.A282T 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 228 0 0 131 84 39.0698 RNF4 0 genome.wustl.edu 37 4 2515435 2515435 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 2515435 2515435 C T SNP RNF4 ENST00000511859 human ensembl 74_37 +1 novel missense c.302 p.A101V 0.998 NULL NULL - no_errors RNF4 HGNC ENSG00000063978 128 0 0 53 38 41.7582 RBPJ 0 genome.wustl.edu 37 4 26364239 26364239 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 26364239 26364239 G A SNP RBPJ ENST00000342320 human ensembl 74_37 +1 known silent c.6 p.A2 1.000 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 47 0 0 29 17 36.9565 FAM193A 0 genome.wustl.edu 37 4 2661728 2661728 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 2661728 2661728 A G SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.819 p.T273 0.001 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 59 0 0 38 27 41.5385 ARAP2 0 genome.wustl.edu 37 4 36109211 36109211 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 36109211 36109211 C T SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4261 p.A1421T 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 122 0 0 69 41 37.2727 WDR19 0 genome.wustl.edu 37 4 39274601 39274601 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 39274601 39274601 T A SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3485 p.I1162N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 17 0 0 10 3 23.0769 LOC401127 0 genome.wustl.edu 37 4 39482126 39482126 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 39482126 39482126 C T SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 37 0 0 38 3 7.31707 PHOX2B 0 genome.wustl.edu 37 4 41748145 41748145 + Nonsense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 41748145 41748145 G T SNP PHOX2B ENST00000226382 human ensembl 74_37 -1 known nonsense c.624 p.C208* 0.547 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors PHOX2B HGNC ENSG00000109132 48 0 0 32 15 31.9149 TMEM33 0 genome.wustl.edu 37 4 41956148 41956148 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 41956148 41956148 C T SNP TMEM33 ENST00000325094 human ensembl 74_37 +1 known silent c.676 p.L226 0.596 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 94 0 0 77 57 42.5373 CORIN 0 genome.wustl.edu 37 4 47605501 47605501 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 47605501 47605501 G A SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.2725 p.R909W 0.873 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 75 0 0 38 20 34.4828 OCIAD2 0 genome.wustl.edu 37 4 48894819 48894819 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 48894819 48894819 C T SNP OCIAD2 ENST00000508632 human ensembl 74_37 -1 known missense c.353 p.R118H 0.999 pfam_OCIA pfam_OCIA - no_errors OCIAD2 HGNC ENSG00000145247 279 0 0 139 97 41.1017 LRRC66 0 genome.wustl.edu 37 4 52861027 52861027 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 52861027 52861027 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.2161 p.A721T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 100 0 0 64 40 38.4615 LRRC66 0 genome.wustl.edu 37 4 52862277 52862277 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 52862277 52862277 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.911 p.R304H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 87 0 0 40 20 33.3333 FIP1L1 0 genome.wustl.edu 37 4 54319243 54319243 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 54319243 54319243 G A SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.1442 p.R481H 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 54 0 0 35 18 33.9623 IGFBP7 0 genome.wustl.edu 37 4 57898531 57898531 + RNA SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 57898531 57898531 C A SNP IGFBP7 ENST00000514062 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGFBP7 HGNC ENSG00000163453 34 0 0 18 14 43.75 EVC 0 genome.wustl.edu 37 4 5800369 5800369 + Silent SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 5800369 5800369 G T SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.2154 p.R718 0.677 NULL NULL - no_errors EVC HGNC ENSG00000072840 10 0 0 3 4 57.1429 PDE6B 0 genome.wustl.edu 37 4 660390 660390 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 660390 660390 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.2339 p.T780I 0.997 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 52 0 0 38 22 36.6667 MFSD7 0 genome.wustl.edu 37 4 679630 679630 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 679630 679630 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known silent c.579 p.P193 0.009 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 50 0 0 37 21 36.2069 CENPC 0 genome.wustl.edu 37 4 68372572 68372572 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 68372572 68372572 G T SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.1985 p.T662K 0.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 44 0 0 19 11 36.6667 CENPC 0 genome.wustl.edu 37 4 68406764 68406764 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 68406764 68406764 G A SNP CENPC ENST00000273853 human ensembl 74_37 -1 known missense c.70 p.R24C 0.310 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 28 0 0 8 7 46.6667 TMPRSS11A 0 genome.wustl.edu 37 4 68788633 68788633 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 68788633 68788633 G A SNP TMPRSS11A ENST00000334830 human ensembl 74_37 -1 known nonsense c.541 p.R181* 1.000 superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_HAT/DESC1 pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC ENSG00000187054 56 0 0 34 23 40.3509 TBC1D14 0 genome.wustl.edu 37 4 6925428 6925428 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 6925428 6925428 C A SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known silent c.312 p.A104 0.011 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 117 0 0 66 51 43.5897 TADA2B 0 genome.wustl.edu 37 4 7056590 7056590 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 7056590 7056590 C A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.1072 p.L358I 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 121 0 0 55 35 38.8889 C4orf26 0 genome.wustl.edu 37 4 76489373 76489373 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 76489373 76489373 C T SNP C4orf26 ENST00000435974 human ensembl 74_37 +1 putative missense c.161 p.T54M 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 98 0 0 51 34 40 AFAP1 0 genome.wustl.edu 37 4 7802200 7802200 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 7802200 7802200 A G SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1235 p.L412P 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 36 0 0 20 16 44.4444 FRAS1 0 genome.wustl.edu 37 4 79420976 79420976 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 79420976 79420976 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known nonsense c.9217 p.Q3073* 1.000 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 135 0 0 71 55 43.6508 BMP3 0 genome.wustl.edu 37 4 81967532 81967532 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 81967532 81967532 G T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.957 p.K319N 0.998 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 38 0 0 34 23 40.3509 PRKG2 0 genome.wustl.edu 37 4 82031710 82031710 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 82031710 82031710 C T SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.1832 p.C611Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 75 0 0 44 17 27.8689 LIN54 0 genome.wustl.edu 37 4 83891596 83891596 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 83891596 83891596 C T SNP LIN54 ENST00000340417 human ensembl 74_37 -1 known missense c.835 p.G279R 1.000 NULL pfam_CRC - no_errors LIN54 HGNC ENSG00000189308 103 0 0 71 63 47.0149 HPSE 0 genome.wustl.edu 37 4 84222192 84222192 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 84222192 84222192 G A SNP HPSE ENST00000311412 human ensembl 74_37 -1 known missense c.1393 p.R465W 0.955 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 52 0 0 58 35 37.6344 HSD17B11 0 genome.wustl.edu 37 4 88258505 88258505 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 88258505 88258505 G A SNP HSD17B11 ENST00000358290 human ensembl 74_37 -1 known missense c.826 p.R276C 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B11 HGNC ENSG00000198189 92 0 0 63 47 42.7273 HERC6 0 genome.wustl.edu 37 4 89326069 89326069 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 89326069 89326069 A C SNP HERC6 ENST00000264346 human ensembl 74_37 +1 known missense c.1134 p.E378D 1.000 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC ENSG00000138642 78 0 0 37 27 42.1875 TMEM175 0 genome.wustl.edu 37 4 951745 951745 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 951745 951745 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.976 p.A326T 0.992 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 49 0 0 42 22 34.375 BMPR1B 0 genome.wustl.edu 37 4 96069948 96069948 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 96069948 96069948 C T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1216 p.R406C 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 63 0 0 70 42 37.5 UNC5C 0 genome.wustl.edu 37 4 96469892 96469892 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 96469892 96469892 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known silent c.117 p.A39 0.990 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 43 0 0 13 19 59.375 RAP1GDS1 0 genome.wustl.edu 37 4 99264447 99264447 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 99264447 99264447 C T SNP RAP1GDS1 ENST00000510870 human ensembl 74_37 +1 known silent c.270 p.N90 1.000 NULL superfamily_ARM-type_fold - no_errors RAP1GDS1 HGNC ENSG00000138698 39 0 0 40 23 36.5079 SLCO6A1 0 genome.wustl.edu 37 5 101834536 101834536 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 101834536 101834536 C T SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.13 p.V5I 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 129 0 0 91 54 37.2414 SLC12A7 0 genome.wustl.edu 37 5 1076892 1076892 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 1076892 1076892 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1665 p.T555 0.220 pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 67 0 0 32 17 34.6939 SLC25A46 0 genome.wustl.edu 37 5 110096961 110096961 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 110096961 110096961 A G SNP SLC25A46 ENST00000355943 human ensembl 74_37 +1 known missense c.736 p.R246G 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A46 HGNC ENSG00000164209 108 0 0 131 7 5.07246 COMMD10 0 genome.wustl.edu 37 5 115426820 115426820 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 115426820 115426820 G A SNP COMMD10 ENST00000274458 human ensembl 74_37 +1 known silent c.177 p.A59 0.981 pfam_HCaRG pfam_HCaRG - no_errors COMMD10 HGNC ENSG00000145781 48 0 0 38 17 30.9091 DMXL1 0 genome.wustl.edu 37 5 118500337 118500337 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 118500337 118500337 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.4838 p.R1613Q 1.000 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 90 0 0 62 43 40.9524 FBN2 0 genome.wustl.edu 37 5 127681104 127681104 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 127681104 127681104 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.3162 p.R1054 0.927 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 134 0 0 88 59 40.1361 C5orf20 0 genome.wustl.edu 37 5 134782379 134782379 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 134782379 134782379 C T SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known silent c.420 p.P140 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 184 0 0 84 55 39.5683 ENSG00000250159 0 genome.wustl.edu 37 5 137219047 137219047 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 137219047 137219047 C T SNP ENSG00000250159 ENST00000508281 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-381K20.2 Clone_based_vega_gene ENSG00000250159 50 0 0 38 25 39.6825 KIF20A 0 genome.wustl.edu 37 5 137520324 137520324 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 137520324 137520324 G A SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.1642 p.D548N 0.911 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 99 0 0 84 58 40.8451 LRRTM2 0 genome.wustl.edu 37 5 138210767 138210767 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 138210767 138210767 G A SNP LRRTM2 ENST00000523537 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRRTM2 HGNC ENSG00000146006 12 0 0 7 2 22.2222 SRA1 0 genome.wustl.edu 37 5 139931630 139931630 + Silent SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 139931630 139931630 A T SNP SRA1 ENST00000336283 human ensembl 74_37 -1 known silent c.327 p.A109 0.943 pfam_SRA1-protein/COPII_Sec31 pfam_SRA1-protein/COPII_Sec31 - no_errors SRA1 HGNC ENSG00000213523 28 0 0 24 4 14.2857 PCDHA9 0 genome.wustl.edu 37 5 140229215 140229215 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140229215 140229215 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1135 p.A379T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 88 0 0 80 46 36.5079 PCDHA10 0 genome.wustl.edu 37 5 140237471 140237471 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140237471 140237471 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 49 0 0 29 15 34.0909 PCDHA12 0 genome.wustl.edu 37 5 140257289 140257289 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140257289 140257289 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.2232 p.A744 0.975 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 55 0 0 22 17 43.5897 PCDHAC2 0 genome.wustl.edu 37 5 140346986 140346986 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140346986 140346986 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.635 p.R212H 0.828 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 29 0 0 35 15 30 ENSG00000272154 0 genome.wustl.edu 37 5 140480154 140480154 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140480154 140480154 G A SNP ENSG00000272154 ENST00000607216 human ensembl 74_37 -1 known rna NULL NULL 0.471 - - - no_errors AC005754.7 Clone_based_vega_gene ENSG00000272154 33 0 0 18 10 35.7143 PCDHB8 0 genome.wustl.edu 37 5 140559234 140559234 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140559234 140559234 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1619 p.P540L 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 PCDHB8 HGNC ENSG00000120322 187 0 0 141 36 20.339 PCDHB12 0 genome.wustl.edu 37 5 140589805 140589805 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140589805 140589805 C T SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known silent c.1326 p.S442 0.048 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 138 0 0 69 53 43.4426 PCDHB13 0 genome.wustl.edu 37 5 140593986 140593986 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140593986 140593986 C T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.291 p.C97 0.931 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 17 0 0 18 22 55 PCDHGA1 0 genome.wustl.edu 37 5 140712070 140712070 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140712070 140712070 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1819 p.R607C 0.991 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 PCDHGA1 HGNC ENSG00000204956 62 0 0 35 33 48.5294 PCDHGA5 0 genome.wustl.edu 37 5 140743963 140743963 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140743963 140743963 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.66 p.T22 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 32 0 0 19 15 44.1176 PCDHGA5 0 genome.wustl.edu 37 5 140745966 140745966 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140745966 140745966 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.2069 p.T690I 0.997 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 449 0 0 251 149 37.25 PCDHGA7 0 genome.wustl.edu 37 5 140763024 140763024 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140763024 140763024 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.558 p.D186 0.000 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 PCDHGA7 HGNC ENSG00000253537 27 0 0 16 15 48.3871 PCDHGA7 0 genome.wustl.edu 37 5 140763850 140763850 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140763850 140763850 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1384 p.A462T 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 75 0 0 33 29 46.7742 PCDHGB7 0 genome.wustl.edu 37 5 140797738 140797738 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140797738 140797738 G T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.312 p.L104F 0.617 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 162 0 0 127 7 5.22388 SH3TC2 0 genome.wustl.edu 37 5 148407373 148407373 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 148407373 148407373 C T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.1922 p.R641H 0.999 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 45 0 0 19 24 55.814 FAT2 0 genome.wustl.edu 37 5 150905459 150905459 + Missense_Mutation SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 150905459 150905459 C G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10376 p.G3459A 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 68 0 0 26 16 38.0952 NIPAL4 0 genome.wustl.edu 37 5 156899809 156899809 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 156899809 156899809 C T SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known silent c.1242 p.C414 0.001 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 28 0 0 29 19 39.5833 FBLL1 0 genome.wustl.edu 37 5 167957455 167957455 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 167957455 167957455 C T SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.946 p.R316W 0.945 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 24 0 0 9 10 52.6316 TLX3 0 genome.wustl.edu 37 5 170736618 170736618 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 170736618 170736618 G A SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known silent c.249 p.A83 0.975 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 22 0 0 8 6 42.8571 FGFR4 0 genome.wustl.edu 37 5 176522651 176522651 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 176522651 176522651 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1748 p.P583L 0.986 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 14 0 0 5 5 50 LMAN2 0 genome.wustl.edu 37 5 176759221 176759221 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 176759221 176759221 A C SNP LMAN2 ENST00000303127 human ensembl 74_37 -1 known missense c.937 p.F313V 1.000 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2 HGNC ENSG00000169223 27 0 0 17 6 26.087 DBN1 0 genome.wustl.edu 37 5 176886118 176886118 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 176886118 176886118 C T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known silent c.1113 p.P371 0.176 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 87 0 0 23 26 53.0612 TBC1D9B 0 genome.wustl.edu 37 5 179314888 179314888 + RNA SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 179314888 179314888 G T SNP TBC1D9B ENST00000518120 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors TBC1D9B HGNC ENSG00000197226 8 0 0 6 4 40 TBC1D9B 0 genome.wustl.edu 37 5 179315143 179315143 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 179315143 179315143 A G SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.1214 p.I405T 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 213 0 0 101 56 35.6688 MGAT1 0 genome.wustl.edu 37 5 180219454 180219454 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 180219454 180219454 G A SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known missense c.518 p.P173L 0.674 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 74 0 0 50 48 48.9796 CDH9 0 genome.wustl.edu 37 5 26885740 26885740 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 26885740 26885740 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1865 p.C622Y 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 43 0 0 24 17 41.4634 IRX1 0 genome.wustl.edu 37 5 3599423 3599423 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 3599423 3599423 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.361 p.G121S 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 59 0 0 26 13 33.3333 NIPBL 0 genome.wustl.edu 37 5 37045566 37045566 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 37045566 37045566 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.6365 p.S2122N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 182 0 0 87 61 41.2162 EGFLAM 0 genome.wustl.edu 37 5 38350644 38350644 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 38350644 38350644 T C SNP EGFLAM ENST00000354891 human ensembl 74_37 +1 known silent c.333 p.R111 0.595 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 62 0 0 61 41 40.1961 PLCXD3 0 genome.wustl.edu 37 5 41382192 41382192 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 41382192 41382192 T C SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.548 p.Y183C 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 112 0 0 103 46 30.8725 NIM1 0 genome.wustl.edu 37 5 43280659 43280659 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 43280659 43280659 G A SNP NIM1 ENST00000326035 human ensembl 74_37 +1 known missense c.1139 p.R380H 0.998 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NIM1 Uniprot_gn ENSG00000177453 64 0 0 64 35 35.3535 FGF10 0 genome.wustl.edu 37 5 44388639 44388639 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 44388639 44388639 G A SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known missense c.146 p.A49V 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 52 0 0 31 20 39.2157 HCN1 0 genome.wustl.edu 37 5 45645327 45645327 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 45645327 45645327 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.809 p.R270Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 28 0 0 34 18 34.6154 PARP8 0 genome.wustl.edu 37 5 50059056 50059056 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 50059056 50059056 G A SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known silent c.498 p.G166 0.997 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 55 0 0 28 22 44 KIAA0947 0 genome.wustl.edu 37 5 5462807 5462807 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 5462807 5462807 C T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.3360 p.S1120 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 45 0 0 15 19 55.8824 DEPDC1B 0 genome.wustl.edu 37 5 59982801 59982801 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 59982801 59982801 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.302 p.R101H 0.909 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 217 0 0 196 106 35.0993 MAST4 0 genome.wustl.edu 37 5 66430427 66430427 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 66430427 66430427 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.2312 p.A771V 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 127 1 0.78125 51 44 46.3158 MAP1B 0 genome.wustl.edu 37 5 71491610 71491610 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 71491610 71491610 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.2428 p.A810T 0.537 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 85 0 0 53 50 48.5437 ZNF366 0 genome.wustl.edu 37 5 71756601 71756601 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 71756601 71756601 G A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known silent c.723 p.S241 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 169 1 0.588235 90 59 39.5973 POLK 0 genome.wustl.edu 37 5 74892070 74892070 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 74892070 74892070 A G SNP POLK ENST00000241436 human ensembl 74_37 +1 known missense c.1552 p.N518D 0.986 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 38 0 0 24 21 46.6667 ZFYVE16 0 genome.wustl.edu 37 5 79734068 79734068 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 79734068 79734068 G A SNP ZFYVE16 ENST00000338008 human ensembl 74_37 +1 known missense c.1564 p.A522T 0.888 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 92 0 0 41 47 53.4091 XRCC4 0 genome.wustl.edu 37 5 82491728 82491728 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 82491728 82491728 T C SNP XRCC4 ENST00000338635 human ensembl 74_37 +1 known missense c.455 p.L152P 1.000 pfam_DNA_repair_prot_XRCC4 pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 69 0 0 47 26 35.6164 HAPLN1 0 genome.wustl.edu 37 5 82937478 82937478 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 82937478 82937478 T C SNP HAPLN1 ENST00000274341 human ensembl 74_37 -1 known missense c.902 p.Y301C 0.954 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 202 0 0 121 59 32.7778 BRD9 0 genome.wustl.edu 37 5 884073 884073 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 884073 884073 G A SNP BRD9 ENST00000467963 human ensembl 74_37 -1 known missense c.946 p.R316W 0.095 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 75 0 0 29 24 45.283 MBLAC2 0 genome.wustl.edu 37 5 89769673 89769673 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 89769673 89769673 G A SNP MBLAC2 ENST00000316610 human ensembl 74_37 -1 known missense c.437 p.T146I 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors MBLAC2 HGNC ENSG00000176055 11 0 0 3 2 40 GPR98 0 genome.wustl.edu 37 5 89990228 89990228 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 89990228 89990228 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7655 p.A2552V 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 130 0 0 83 42 33.6 ARRDC3 0 genome.wustl.edu 37 5 90672541 90672541 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 90672541 90672541 T C SNP ARRDC3 ENST00000265138 human ensembl 74_37 -1 known missense c.407 p.Y136C 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 61 0 0 27 24 47.0588 WASF1 0 genome.wustl.edu 37 6 110428390 110428390 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 110428390 110428390 C A SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.430 p.G144C 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 55 0 0 37 14 27.451 NEDD9 0 genome.wustl.edu 37 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 11191156 11191156 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.946 p.A316T 0.897 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 95 0 0 64 37 36.6337 WISP3 0 genome.wustl.edu 37 6 112382213 112382213 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 112382213 112382213 G A SNP WISP3 ENST00000361714 human ensembl 74_37 +1 known missense c.122 p.G41D 0.005 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 74 0 0 37 32 46.3768 DSE 0 genome.wustl.edu 37 6 116757924 116757924 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 116757924 116757924 C T SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.2350 p.R784W 0.998 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 98 0 0 42 33 44 TBC1D32 0 genome.wustl.edu 37 6 121544405 121544405 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 121544405 121544405 G C SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2458 p.R820G 1.000 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 51 0 0 72 4 5.26316 THEMIS 0 genome.wustl.edu 37 6 128134599 128134599 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 128134599 128134599 G A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1187 p.T396M 0.098 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 89 0 0 39 33 45.8333 THEMIS 0 genome.wustl.edu 37 6 128150884 128150884 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 128150884 128150884 A G SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.446 p.M149T 0.964 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 136 0 0 77 57 42.5373 SAMD3 0 genome.wustl.edu 37 6 130476087 130476087 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 130476087 130476087 C A SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.906 p.W302C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 90 0 0 80 6 6.97674 SAMD3 0 genome.wustl.edu 37 6 130496947 130496947 + RNA SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 130496947 130496947 T C SNP SAMD3 ENST00000528422 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors SAMD3 HGNC ENSG00000164483 74 0 0 44 35 44.3038 EPB41L2 0 genome.wustl.edu 37 6 131206333 131206333 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 131206333 131206333 G T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1736 p.P579H 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 146 0 0 86 54 38.5714 PHACTR1 0 genome.wustl.edu 37 6 13160486 13160486 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 13160486 13160486 C T SNP PHACTR1 ENST00000379350 human ensembl 74_37 +1 known nonsense c.466 p.R156* 1.000 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 135 0 0 64 45 41.2844 MED23 0 genome.wustl.edu 37 6 131948484 131948484 + RNA SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 131948484 131948484 A G SNP MED23 ENST00000489888 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 53 0 0 32 20 38.4615 RPS12 0 genome.wustl.edu 37 6 133138636 133138636 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 133138636 133138636 T C SNP RPS12 ENST00000230050 human ensembl 74_37 +1 known silent c.354 p.S118 0.997 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e - no_errors RPS12 HGNC ENSG00000112306 72 0 0 41 32 43.8356 SLC2A12 0 genome.wustl.edu 37 6 134350554 134350554 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 134350554 134350554 G A SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.409 p.R137C 0.956 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 95 0 0 57 45 44.1176 RANBP9 0 genome.wustl.edu 37 6 13644899 13644899 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 13644899 13644899 C T SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known silent c.990 p.G330 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 83 0 0 74 48 39.3443 AIG1 0 genome.wustl.edu 37 6 143382143 143382143 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 143382143 143382143 C A SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known silent c.81 p.I27 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 97 0 0 56 34 37.7778 UTRN 0 genome.wustl.edu 37 6 144724272 144724272 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 144724272 144724272 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.93 p.D31 0.290 superfamily_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 25 0 0 20 7 25.9259 UTRN 0 genome.wustl.edu 37 6 144801065 144801065 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 144801065 144801065 G T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3454 p.D1152Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 131 0 0 54 34 38.6364 UTRN 0 genome.wustl.edu 37 6 144811233 144811233 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 144811233 144811233 T C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.4161 p.H1387 0.997 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 156 0 0 68 51 42.8571 GRM1 0 genome.wustl.edu 37 6 146673400 146673400 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 146673400 146673400 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1201 p.E401K 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 92 0 0 48 42 46.6667 GRM1 0 genome.wustl.edu 37 6 146720020 146720020 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 146720020 146720020 A G SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known silent c.1845 p.V615 0.999 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 208 0 0 116 89 43.4146 LOC100128176 0 genome.wustl.edu 37 6 149285779 149285779 + RNA SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 149285779 149285779 C A SNP LOC100128176 ENST00000413845 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-162J8.2 Clone_based_vega_gene ENSG00000227660 21 0 0 11 10 47.619 TAB2 0 genome.wustl.edu 37 6 149719193 149719193 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 149719193 149719193 C T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.1853 p.A618V 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 36 0 0 20 9 31.0345 LATS1 0 genome.wustl.edu 37 6 150023018 150023018 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 150023018 150023018 C T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.245 p.R82Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 145 0 0 90 85 48.5714 RNU6-813P 0 genome.wustl.edu 37 6 151936943 151936943 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 151936943 151936943 C T SNP RNU6-813P ENST00000384691 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RNU6-813P HGNC ENSG00000207422 11 0 0 14 7 33.3333 SYNE1 0 genome.wustl.edu 37 6 152772296 152772296 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 152772296 152772296 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.3072 p.I1024 0.878 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 100 0 0 42 46 52.2727 TIAM2 0 genome.wustl.edu 37 6 155451055 155451055 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 155451055 155451055 C A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.698 p.S233Y 0.810 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 70 0 0 58 6 9.375 TIAM2 0 genome.wustl.edu 37 6 155458397 155458397 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 155458397 155458397 T C SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known silent c.1281 p.S427 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 105 0 0 54 32 37.2093 SYNJ2 0 genome.wustl.edu 37 6 158449919 158449919 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 158449919 158449919 C T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.346 p.R116C 0.999 pfam_Syja_N pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 58 0 0 44 33 42.8571 TULP4 0 genome.wustl.edu 37 6 158924493 158924493 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 158924493 158924493 C T SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.3798 p.Y1266 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 120 0 0 68 45 39.823 IGF2R 0 genome.wustl.edu 37 6 160468904 160468904 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 160468904 160468904 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.2310 p.T770 0.998 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 74 0 0 45 12 21.0526 LPA 0 genome.wustl.edu 37 6 161032593 161032593 + Splice_Site SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 161032593 161032593 C T SNP LPA ENST00000316300 human ensembl 74_37 -1 known splice_site c.2603+1 e16+1 0.987 - - - no_errors LPA HGNC ENSG00000198670 505 0 0 240 149 38.3033 PLG 0 genome.wustl.edu 37 6 161139414 161139414 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 161139414 161139414 C T SNP PLG ENST00000308192 human ensembl 74_37 +1 known silent c.876 p.S292 0.997 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 145 0 0 83 47 36.1538 PARK2 0 genome.wustl.edu 37 6 162394359 162394359 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 162394359 162394359 T C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.709 p.T237A 0.299 pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 70 0 0 33 22 40 ATXN1 0 genome.wustl.edu 37 6 16327924 16327924 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 16327924 16327924 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.618 p.Q206H 0.068 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 17 0 0 17 6 26.087 T 0 genome.wustl.edu 37 6 166580950 166580950 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 166580950 166580950 C T SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.130 p.V44M 0.984 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 28 0 0 21 15 41.6667 PRR18 0 genome.wustl.edu 37 6 166721232 166721232 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 166721232 166721232 C T SNP PRR18 ENST00000322583 human ensembl 74_37 -1 known silent c.399 p.A133 0.004 NULL NULL - no_errors PRR18 HGNC ENSG00000176381 16 0 0 7 3 30 FAM65B 0 genome.wustl.edu 37 6 24843662 24843662 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 24843662 24843662 A G SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known missense c.1348 p.S450P 0.003 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 63 0 0 46 15 24.5902 LRRC16A 0 genome.wustl.edu 37 6 25581667 25581667 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 25581667 25581667 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel silent c.3006 p.A1002 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 18 0 0 6 7 53.8462 HIST1H3F 0 genome.wustl.edu 37 6 26250607 26250607 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 26250607 26250607 G A SNP HIST1H3F ENST00000446824 human ensembl 74_37 -1 known missense c.227 p.A76V 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3F HGNC ENSG00000256316 148 0 0 80 58 42.029 ZNF322 0 genome.wustl.edu 37 6 26637632 26637632 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 26637632 26637632 T C SNP ZNF322 ENST00000415922 human ensembl 74_37 -1 known missense c.1150 p.S384G 0.713 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF322 HGNC ENSG00000181315 233 0 0 174 78 30.9524 HIST1H1B 0 genome.wustl.edu 37 6 27834647 27834647 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 27834647 27834647 C T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.661 p.A221T 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 43 0 0 13 4 23.5294 TRIM27 0 genome.wustl.edu 37 6 28872085 28872085 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 28872085 28872085 C T SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.1304 p.R435Q 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 111 0 0 65 60 48 OR2J3 0 genome.wustl.edu 37 6 29080104 29080104 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 29080104 29080104 T C SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.437 p.L146P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 371 0 0 192 117 37.8641 OR12D2 0 genome.wustl.edu 37 6 29365367 29365367 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 29365367 29365367 G T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known missense c.891 p.K297N 0.091 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 108 0 0 105 10 8.69565 PPP1R11 0 genome.wustl.edu 37 6 30036995 30036995 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 30036995 30036995 G A SNP PPP1R11 ENST00000376772 human ensembl 74_37 +1 known missense c.293 p.R98Q 1.000 NULL pfam_PPI_Ypi1 - no_errors PPP1R11 HGNC ENSG00000204619 87 0 0 44 32 42.1053 NQO2 0 genome.wustl.edu 37 6 3017128 3017128 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 3017128 3017128 C T SNP NQO2 ENST00000338130 human ensembl 74_37 +1 known missense c.428 p.A143V 0.949 pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like - no_errors NQO2 HGNC ENSG00000124588 31 0 0 22 18 45 ATAT1 0 genome.wustl.edu 37 6 30608312 30608312 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 30608312 30608312 G A SNP ATAT1 ENST00000376485 human ensembl 74_37 +1 known missense c.584 p.R195Q 1.000 NULL pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase - no_errors ATAT1 HGNC ENSG00000137343 71 0 0 40 19 32.2034 PSORS1C1 0 genome.wustl.edu 37 6 31083778 31083778 + RNA SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 31083778 31083778 T C SNP PSORS1C1 ENST00000467107 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PSORS1C1 HGNC ENSG00000204540 39 0 0 31 21 40.3846 BPHL 0 genome.wustl.edu 37 6 3137678 3137678 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 3137678 3137678 C A SNP BPHL ENST00000380379 human ensembl 74_37 +1 known silent c.615 p.T205 0.999 NULL pfam_AB_hydrolase_1 - no_errors BPHL HGNC ENSG00000137274 128 0 0 78 61 43.8849 HCP5 0 genome.wustl.edu 37 6 31431401 31431401 + RNA SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 31431401 31431401 A G SNP HCP5 ENST00000414046 human ensembl 74_37 +1 known rna NULL NULL 0.110 - - - no_errors HCP5 HGNC ENSG00000206337 36 0 0 21 15 41.6667 PRRC2A 0 genome.wustl.edu 37 6 31595599 31595599 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 31595599 31595599 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.1348 p.R450W 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 82 0 0 39 26 40 NELFE 0 genome.wustl.edu 37 6 31924611 31924611 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 31924611 31924611 T C SNP NELFE ENST00000375429 human ensembl 74_37 -1 known silent c.150 p.L50 0.995 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 130 0 0 77 57 42.5373 TNXB 0 genome.wustl.edu 37 6 32024489 32024489 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 32024489 32024489 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8017 p.R2673W 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 47 0 0 30 21 41.1765 B3GALT4 0 genome.wustl.edu 37 6 33245893 33245893 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 33245893 33245893 C T SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.697 p.R233C 0.410 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 83 0 0 58 37 38.9474 C6orf1 0 genome.wustl.edu 37 6 34214308 34214308 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 34214308 34214308 G A SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.463 p.H155Y 0.000 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 45 0 0 35 18 33.9623 PPARD 0 genome.wustl.edu 37 6 35392251 35392251 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 35392251 35392251 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.773 p.R258Q 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 57 0 0 26 13 33.3333 CPNE5 0 genome.wustl.edu 37 6 36733117 36733117 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 36733117 36733117 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.774 p.D258 0.829 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 36 0 0 29 13 30.9524 BTBD9 0 genome.wustl.edu 37 6 38562036 38562036 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 38562036 38562036 C T SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.253 p.A85T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 142 0 0 81 78 49.0566 DNAH8 0 genome.wustl.edu 37 6 38754702 38754702 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 38754702 38754702 T A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1906 p.L636M 0.995 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 43 0 0 32 34 51.5152 TDRD6 0 genome.wustl.edu 37 6 46661723 46661723 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 46661723 46661723 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.5858 p.R1953H 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 75 0 0 80 56 41.1765 GPR115 0 genome.wustl.edu 37 6 47682279 47682279 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 47682279 47682279 C T SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known missense c.1469 p.T490M 0.863 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 142 0 0 85 67 44.0789 TFAP2D 0 genome.wustl.edu 37 6 50682856 50682856 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 50682856 50682856 C T SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.67 p.R23C 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 83 0 0 46 23 33.3333 PKHD1 0 genome.wustl.edu 37 6 51524188 51524188 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 51524188 51524188 A G SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10736 p.V3579A 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 70 0 0 66 5 7.04225 GCLC 0 genome.wustl.edu 37 6 53387264 53387264 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 53387264 53387264 C A SNP GCLC ENST00000229416 human ensembl 74_37 -1 known missense c.212 p.G71V 1.000 NULL pfam_GCS - no_errors GCLC HGNC ENSG00000001084 98 0 0 94 5 5.05051 DST 0 genome.wustl.edu 37 6 56473302 56473302 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 56473302 56473302 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.6025 p.R2009C 0.823 pfam_Plectin_repeat,superfamily_ABC1_TM_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 32 0 0 27 17 38.6364 ZNF451 0 genome.wustl.edu 37 6 57012447 57012447 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 57012447 57012447 G A SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.1564 p.G522R 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 169 0 0 140 127 47.5655 NRN1 0 genome.wustl.edu 37 6 5999288 5999288 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 5999288 5999288 G A SNP NRN1 ENST00000244766 human ensembl 74_37 -1 known missense c.350 p.A117V 1.000 NULL NULL - no_errors NRN1 HGNC ENSG00000124785 34 0 0 7 20 74.0741 COL9A1 0 genome.wustl.edu 37 6 70990735 70990735 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 70990735 70990735 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.884 p.R295Q 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 38 0 0 30 11 26.8293 FAM135A 0 genome.wustl.edu 37 6 71248027 71248027 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 71248027 71248027 G A SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.4151 p.G1384D 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 42 0 0 34 14 29.1667 ENSG00000243501 0 genome.wustl.edu 37 6 73952206 73952206 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 73952206 73952206 G A SNP ENSG00000243501 ENST00000423730 human ensembl 74_37 -1 known missense c.35 p.P12L 0.006 NULL NULL - no_errors RP11-257K9.8 Clone_based_vega_gene ENSG00000243501 86 0 0 50 33 39.759 COL12A1 0 genome.wustl.edu 37 6 75853032 75853032 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 75853032 75853032 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4763 p.P1588H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 89 0 0 66 21 24.1379 COL12A1 0 genome.wustl.edu 37 6 75861886 75861886 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 75861886 75861886 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.3796 p.V1266M 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 70 0 0 55 30 35.2941 HTR1B 0 genome.wustl.edu 37 6 78172719 78172719 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 78172719 78172719 A G SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.402 p.T134 0.084 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 57 0 0 35 25 41.6667 TTK 0 genome.wustl.edu 37 6 80720598 80720598 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 80720598 80720598 G A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.537 p.M179I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 120 0 0 80 9 10.1124 PRSS35 0 genome.wustl.edu 37 6 84233649 84233649 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 84233649 84233649 T C SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known silent c.489 p.H163 0.969 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 144 0 0 70 49 41.1765 CNR1 0 genome.wustl.edu 37 6 88853588 88853588 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 88853588 88853588 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known missense c.1406 p.A469V 1.000 pirsf_Canbinoid_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 258 1 0.3861 145 90 38.2979 COQ3 0 genome.wustl.edu 37 6 99831610 99831610 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 99831610 99831610 G A SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.197 p.T66M 0.000 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 130 0 0 70 62 46.9697 NYAP1 0 genome.wustl.edu 37 7 100086958 100086958 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100086958 100086958 G A SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known silent c.1614 p.P538 0.974 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 16 0 0 12 16 57.1429 GIGYF1 0 genome.wustl.edu 37 7 100284988 100284988 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100284988 100284988 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.415 p.E139K 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 181 0 0 90 138 60.5263 EPHB4 0 genome.wustl.edu 37 7 100417393 100417393 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100417393 100417393 G A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.1083 p.C361 0.970 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 12 0 0 6 15 71.4286 SLC12A9 0 genome.wustl.edu 37 7 100463810 100463810 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100463810 100463810 G T SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.2328 p.E776D 0.985 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 44 0 0 30 51 62.963 ACHE 0 genome.wustl.edu 37 7 100491548 100491548 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100491548 100491548 T C SNP ACHE ENST00000302913 human ensembl 74_37 -1 known silent c.306 p.Q102 0.579 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 96 0 0 49 85 63.4328 NAT16 0 genome.wustl.edu 37 7 100817842 100817842 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100817842 100817842 G A SNP NAT16 ENST00000300303 human ensembl 74_37 -1 known missense c.247 p.R83C 0.604 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT16 HGNC ENSG00000167011 43 0 0 55 8 12.6984 SH2B2 0 genome.wustl.edu 37 7 101952177 101952177 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 101952177 101952177 C T SNP SH2B2 ENST00000536178 human ensembl 74_37 +1 known silent c.1041 p.C347 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors SH2B2 HGNC ENSG00000160999 155 0 0 125 49 28.1609 POLR2J2 0 genome.wustl.edu 37 7 102309449 102309449 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 102309449 102309449 A G SNP POLR2J2 ENST00000333432 human ensembl 74_37 -1 known missense c.53 p.I18T 1.000 superfamily_RBP11-like_dimer superfamily_RBP11-like_dimer - no_errors POLR2J2 Clone_based_vega_gene ENSG00000228049 31 0 0 27 10 27.027 RELN 0 genome.wustl.edu 37 7 103113350 103113350 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 103113350 103113350 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.10292 p.R3431H 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 48 0 0 35 34 49.2754 RINT1 0 genome.wustl.edu 37 7 105195574 105195574 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 105195574 105195574 T C SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.1571 p.M524T 1.000 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 116 0 0 71 138 66.0287 LAMB4 0 genome.wustl.edu 37 7 107708575 107708575 + Nonsense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 107708575 107708575 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known nonsense c.2332 p.G778* 0.026 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 114 1 0.869565 60 78 56.5217 IFRD1 0 genome.wustl.edu 37 7 112098933 112098933 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 112098933 112098933 C T SNP IFRD1 ENST00000005558 human ensembl 74_37 +1 known missense c.427 p.R143C 0.998 pfam_Interferon-rel_develop_reg_N,superfamily_ARM-type_fold pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD1 HGNC ENSG00000006652 54 0 0 52 21 28.7671 PPP1R3A 0 genome.wustl.edu 37 7 113518220 113518220 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 113518220 113518220 A G SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2927 p.V976A 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 89 0 0 117 39 25 MET 0 genome.wustl.edu 37 7 116339279 116339279 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 116339279 116339279 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.141 p.T47 0.055 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 96 0 0 92 40 30.303 CFTR 0 genome.wustl.edu 37 7 117251692 117251692 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 117251692 117251692 G A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.3197 p.R1066H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 47 0 0 36 30 45.4545 TMEM106B 0 genome.wustl.edu 37 7 12263988 12263988 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 12263988 12263988 C T SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known missense c.418 p.R140C 0.475 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 84 0 0 79 84 51.5337 FSCN3 0 genome.wustl.edu 37 7 127235581 127235581 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 127235581 127235581 A G SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.365 p.D122G 0.978 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 55 0 0 47 24 33.8028 FAM71F1 0 genome.wustl.edu 37 7 128355644 128355644 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 128355644 128355644 C T SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.149 p.A50V 1.000 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 97 0 0 47 56 54.3689 CPA5 0 genome.wustl.edu 37 7 130007829 130007829 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 130007829 130007829 T G SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known missense c.1121 p.L374R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 68 0 0 32 35 52.2388 SVOPL 0 genome.wustl.edu 37 7 138333785 138333785 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 138333785 138333785 G A SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.176 p.P59L 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 56 0 0 43 24 35.8209 TAS2R38 0 genome.wustl.edu 37 7 141673015 141673015 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 141673015 141673015 C T SNP TAS2R38 ENST00000547270 human ensembl 74_37 -1 known missense c.475 p.V159I 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 46 0 0 55 23 29.4872 TAS2R60 0 genome.wustl.edu 37 7 143141232 143141232 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 143141232 143141232 T C SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known silent c.687 p.L229 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 108 0 0 140 56 28.5714 OR2A25 0 genome.wustl.edu 37 7 143771428 143771428 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 143771428 143771428 T C SNP OR2A25 ENST00000408898 human ensembl 74_37 +1 known missense c.116 p.L39S 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC ENSG00000221933 123 0 0 61 74 54.8148 OR2A2 0 genome.wustl.edu 37 7 143807297 143807297 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 143807297 143807297 G A SNP OR2A2 ENST00000408979 human ensembl 74_37 +1 known missense c.622 p.G208R 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A2 HGNC ENSG00000221989 208 0 0 161 64 28.4444 CNTNAP2 0 genome.wustl.edu 37 7 146536847 146536847 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 146536847 146536847 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.253 p.L85F 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 73 0 0 40 56 58.3333 PDIA4 0 genome.wustl.edu 37 7 148712092 148712092 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 148712092 148712092 G A SNP PDIA4 ENST00000286091 human ensembl 74_37 -1 known missense c.518 p.T173M 0.983 pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA4 HGNC ENSG00000155660 55 0 0 56 19 25.3333 ZNF786 0 genome.wustl.edu 37 7 148768876 148768876 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 148768876 148768876 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.988 p.R330C 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 16 0 0 15 4 21.0526 SSPO 0 genome.wustl.edu 37 7 149500639 149500639 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 149500639 149500639 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SSPO HGNC ENSG00000197558 22 0 0 19 12 38.7097 ZNF862 0 genome.wustl.edu 37 7 149543278 149543278 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 149543278 149543278 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.175 p.G59R 0.049 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 29 0 0 11 15 57.6923 ABCB8 0 genome.wustl.edu 37 7 150739068 150739068 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 150739068 150739068 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known silent c.1689 p.T563 0.003 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 68 0 0 38 44 53.6585 KMT2C 0 genome.wustl.edu 37 7 151841898 151841898 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 151841898 151841898 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14414 p.A4805V 0.991 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 59 0 0 36 65 64.3564 KMT2C 0 genome.wustl.edu 37 7 151877105 151877105 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 151877105 151877105 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.7256 p.P2419H 0.736 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 212 0 0 110 145 56.8627 KMT2C 0 genome.wustl.edu 37 7 151891162 151891162 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 151891162 151891162 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.4592 p.A1531V 0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 76 0 0 96 30 23.8095 KMT2C 0 genome.wustl.edu 37 7 151935847 151935847 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 151935847 151935847 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.2597 p.R866Q 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 104 0 0 91 30 24.7934 NOM1 0 genome.wustl.edu 37 7 156752777 156752777 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 156752777 156752777 G T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1541 p.R514M 0.998 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 98 0 0 52 71 57.7236 TMEM184A 0 genome.wustl.edu 37 7 1589976 1589976 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 1589976 1589976 G A SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known silent c.441 p.G147 0.918 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 26 0 0 10 5 33.3333 OSBPL3 0 genome.wustl.edu 37 7 24874171 24874171 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 24874171 24874171 G A SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.1680 p.C560 0.492 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 75 0 0 117 7 5.64516 CCDC129 0 genome.wustl.edu 37 7 31617908 31617908 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 31617908 31617908 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.1108 p.A370T 0.242 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 61 0 0 35 43 55.1282 KBTBD2 0 genome.wustl.edu 37 7 32914609 32914609 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 32914609 32914609 G T SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.331 p.L111I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 58 0 0 125 7 5.30303 SDK1 0 genome.wustl.edu 37 7 4169697 4169697 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 4169697 4169697 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.4097 p.T1366M 0.003 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 48 0 0 30 40 57.1429 SDK1 0 genome.wustl.edu 37 7 4304818 4304818 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 4304818 4304818 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6444 p.S2148 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 18 0 0 19 6 24 SPDYE1 0 genome.wustl.edu 37 7 44040788 44040788 + Missense_Mutation SNP T T G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 44040788 44040788 T G SNP SPDYE1 ENST00000258704 human ensembl 74_37 +1 known missense c.164 p.V55G 0.089 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE1 HGNC ENSG00000136206 32 0 0 38 2 5 GCK 0 genome.wustl.edu 37 7 44189576 44189576 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 44189576 44189576 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.574 p.R192W 0.974 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 72 0 0 65 30 31.5789 NPC1L1 0 genome.wustl.edu 37 7 44574135 44574135 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 44574135 44574135 G A SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.2077 p.R693C 0.997 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 81 0 0 93 27 22.5 ZMIZ2 0 genome.wustl.edu 37 7 44800124 44800124 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 44800124 44800124 A G SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.1172 p.Q391R 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 104 0 0 161 15 8.52273 RADIL 0 genome.wustl.edu 37 7 4917266 4917266 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 4917266 4917266 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.505 p.A169T 1.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 88 0 0 32 63 66.3158 IKZF1 0 genome.wustl.edu 37 7 50450374 50450374 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 50450374 50450374 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.558 p.D186 0.993 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 25 0 0 11 10 47.619 IKZF1 0 genome.wustl.edu 37 7 50468106 50468106 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 50468106 50468106 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.1341 p.D447 0.969 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 40 0 0 27 11 28.9474 GRB10 0 genome.wustl.edu 37 7 50799979 50799979 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 50799979 50799979 G A SNP GRB10 ENST00000398812 human ensembl 74_37 -1 known missense c.41 p.P14L 0.430 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB10 HGNC ENSG00000106070 107 0 0 34 58 63.0435 SLC29A4 0 genome.wustl.edu 37 7 5331406 5331406 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 5331406 5331406 C T SNP SLC29A4 ENST00000406453 human ensembl 74_37 +1 novel missense c.461 p.T154M 0.412 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 87 0 0 47 58 55.2381 EGFR 0 genome.wustl.edu 37 7 55269026 55269026 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 55269026 55269026 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.3092 p.R1031Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 95 0 0 97 41 29.7101 ACTB 0 genome.wustl.edu 37 7 5567376 5567376 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 5567376 5567376 C T SNP ACTB ENST00000464611 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ACTB HGNC ENSG00000075624 206 0 0 188 78 29.3233 FSCN1 0 genome.wustl.edu 37 7 5632920 5632920 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 5632920 5632920 G A SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known missense c.353 p.R118H 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 26 0 0 20 8 28.5714 FSCN1 0 genome.wustl.edu 37 7 5633295 5633295 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 5633295 5633295 G A SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known missense c.728 p.G243D 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 13 0 0 3 6 66.6667 DAGLB 0 genome.wustl.edu 37 7 6449537 6449537 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 6449537 6449537 G A SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known silent c.1950 p.S650 0.005 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 100 0 0 82 36 30.5085 POM121 0 genome.wustl.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 72413896 72413896 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3364 p.T1122A 0.152 NULL NULL - no_errors POM121 HGNC ENSG00000196313 21 0 0 30 4 11.7647 GTF2IRD2 0 genome.wustl.edu 37 7 74211702 74211702 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 74211702 74211702 C T SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.2149 p.G717R 0.895 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 36 0 0 13 18 58.0645 POM121C 0 genome.wustl.edu 37 7 75048170 75048170 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 75048170 75048170 G A SNP POM121C ENST00000257665 human ensembl 74_37 -1 known missense c.3599 p.A1200V 0.363 NULL NULL - no_errors POM121C HGNC ENSG00000135213 43 0 0 47 18 27.6923 SEMA3E 0 genome.wustl.edu 37 7 83037703 83037703 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 83037703 83037703 G A SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known silent c.651 p.D217 0.132 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 55 0 0 16 56 77.7778 RUNDC3B 0 genome.wustl.edu 37 7 87436695 87436695 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 87436695 87436695 C T SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.1015 p.L339 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 56 0 0 94 30 24.1935 AKAP9 0 genome.wustl.edu 37 7 91715653 91715653 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 91715653 91715653 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.9148 p.R3050W 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 274 0 0 129 198 60.5505 LMTK2 0 genome.wustl.edu 37 7 97821334 97821334 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 97821334 97821334 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.1557 p.P519 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 95 0 0 88 37 29.6 TRRAP 0 genome.wustl.edu 37 7 98557049 98557049 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 98557049 98557049 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.6404 p.R2135Q 0.796 superfamily_ARM-type_fold 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 77 0 0 37 65 63.7255 ARPC1B 0 genome.wustl.edu 37 7 98988840 98988840 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 98988840 98988840 G A SNP ARPC1B ENST00000252725 human ensembl 74_37 +1 known silent c.747 p.A249 0.012 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1B HGNC ENSG00000130429 30 0 0 25 12 32.4324 CTHRC1 0 genome.wustl.edu 37 8 104388039 104388039 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 104388039 104388039 C T SNP CTHRC1 ENST00000330295 human ensembl 74_37 +1 known missense c.224 p.P75L 1.000 pfam_Collagen pfam_Collagen - no_errors CTHRC1 HGNC ENSG00000164932 132 0 0 135 47 25.8242 EMC2 0 genome.wustl.edu 37 8 109489111 109489111 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 109489111 109489111 G C SNP EMC2 ENST00000220853 human ensembl 74_37 +1 known missense c.692 p.G231A 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC ENSG00000104412 25 0 0 49 18 26.8657 TMEM74 0 genome.wustl.edu 37 8 109796626 109796626 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 109796626 109796626 C T SNP TMEM74 ENST00000297459 human ensembl 74_37 -1 known silent c.702 p.A234 0.005 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 49 0 0 53 34 39.0805 TRHR 0 genome.wustl.edu 37 8 110099973 110099973 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 110099973 110099973 G A SNP TRHR ENST00000311762 human ensembl 74_37 +1 known missense c.232 p.A78T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TRH_rcpt_1,prints_GPCR_Rhodpsn - no_errors TRHR HGNC ENSG00000174417 118 1 0.840336 101 41 28.8732 PKHD1L1 0 genome.wustl.edu 37 8 110441683 110441683 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 110441683 110441683 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known nonsense c.3115 p.Q1039* 0.985 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 29 0 0 20 5 20 PKHD1L1 0 genome.wustl.edu 37 8 110478930 110478930 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 110478930 110478930 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8537 p.R2846H 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 38 0 0 25 8 24.2424 TRPS1 0 genome.wustl.edu 37 8 116599370 116599370 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 116599370 116599370 C T SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2558 p.R853Q 0.996 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 79 0 0 84 39 31.7073 TRPS1 0 genome.wustl.edu 37 8 116599476 116599476 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 116599476 116599476 A G SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.2452 p.S818P 0.877 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 220 0 0 190 96 33.5664 SLC30A8 0 genome.wustl.edu 37 8 118165289 118165289 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 118165289 118165289 G A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known silent c.378 p.K126 0.890 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 38 0 0 40 19 32.2034 COL14A1 0 genome.wustl.edu 37 8 121298186 121298186 + Missense_Mutation SNP A A T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 121298186 121298186 A T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.4054 p.I1352F 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 63 0 0 72 6 7.69231 NDUFB9 0 genome.wustl.edu 37 8 125559443 125559443 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 125559443 125559443 T C SNP NDUFB9 ENST00000518008 human ensembl 74_37 +1 putative missense c.497 p.M166T 0.000 NULL pfam_Complex1_LYR - no_errors NDUFB9 HGNC ENSG00000147684 22 0 0 27 13 32.5 TG 0 genome.wustl.edu 37 8 133883773 133883773 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 133883773 133883773 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.455 p.R152H 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 45 0 0 46 20 30.303 WISP1 0 genome.wustl.edu 37 8 134232918 134232918 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 134232918 134232918 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known silent c.444 p.D148 0.995 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 93 0 0 83 40 32.5203 ZFAT 0 genome.wustl.edu 37 8 135622763 135622763 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 135622763 135622763 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.584 p.A195V 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 61 0 0 67 23 25.5556 SLC45A4 0 genome.wustl.edu 37 8 142228560 142228560 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 142228560 142228560 G A SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known silent c.1179 p.D393 0.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 61 0 0 63 26 29.2135 JRK 0 genome.wustl.edu 37 8 143746320 143746320 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 143746320 143746320 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors JRK HGNC ENSG00000234616 13 0 0 11 6 35.2941 JRK 0 genome.wustl.edu 37 8 143747244 143747244 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 143747244 143747244 C T SNP JRK ENST00000422119 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors JRK HGNC ENSG00000234616 24 0 0 10 6 37.5 C8orf31 0 genome.wustl.edu 37 8 144124626 144124626 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 144124626 144124626 G A SNP C8orf31 ENST00000395172 human ensembl 74_37 +1 known missense c.133 p.A45T 0.000 NULL NULL - no_errors C8orf31 HGNC ENSG00000177335 56 0 0 32 12 27.2727 MROH6 0 genome.wustl.edu 37 8 144652731 144652731 + Missense_Mutation SNP G G C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 144652731 144652731 G C SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.817 p.L273V 1.000 NULL superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 59 0 0 46 22 32.3529 SCRIB 0 genome.wustl.edu 37 8 144893468 144893468 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 144893468 144893468 G A SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known silent c.954 p.N318 0.996 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 25 0 0 19 11 36.6667 PLEC 0 genome.wustl.edu 37 8 144998018 144998018 + Nonsense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 144998018 144998018 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.6490 p.R2164* 0.052 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 15 0 0 3 8 72.7273 PLEC 0 genome.wustl.edu 37 8 144999070 144999070 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 144999070 144999070 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.5438 p.R1813H 0.999 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 12 0 0 11 3 21.4286 GRINA 0 genome.wustl.edu 37 8 145066726 145066726 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145066726 145066726 C T SNP GRINA ENST00000313269 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 32 0 0 32 18 36 MROH1 0 genome.wustl.edu 37 8 145234370 145234370 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145234370 145234370 T C SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known missense c.181 p.Y61H 0.964 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 45 0 0 33 15 31.25 KIFC2 0 genome.wustl.edu 37 8 145698298 145698298 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145698298 145698298 G A SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.1982 p.R661H 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 13 0 0 3 4 57.1429 COMMD5 0 genome.wustl.edu 37 8 146076123 146076123 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 146076123 146076123 G A SNP COMMD5 ENST00000450361 human ensembl 74_37 -1 known missense c.601 p.R201W 0.770 pfam_HCaRG pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 45 0 0 36 9 20 HR 0 genome.wustl.edu 37 8 21978590 21978590 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 21978590 21978590 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.2355 p.P785 0.928 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 58 0 0 29 5 14.7059 BMP1 0 genome.wustl.edu 37 8 22064891 22064891 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 22064891 22064891 G A SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known missense c.2437 p.A813T 0.892 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 137 0 0 12 45 78.9474 TNFRSF10C 0 genome.wustl.edu 37 8 22972207 22972207 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 22972207 22972207 G A SNP TNFRSF10C ENST00000517558 human ensembl 74_37 +1 known missense c.98 p.R33H 0.000 NULL NULL - no_errors TNFRSF10C HGNC ENSG00000173535 141 0 0 43 4 8.51064 TNFRSF10D 0 genome.wustl.edu 37 8 23021352 23021352 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 23021352 23021352 G T SNP TNFRSF10D ENST00000312584 human ensembl 74_37 -1 known missense c.97 p.L33M 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10D HGNC ENSG00000173530 19 0 0 9 2 18.1818 LOXL2 0 genome.wustl.edu 37 8 23159604 23159604 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 23159604 23159604 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.2069 p.R690H 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 40 0 0 5 20 80 DOCK5 0 genome.wustl.edu 37 8 25224467 25224467 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 25224467 25224467 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.3205 p.R1069C 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 47 0 0 5 16 76.1905 DOCK5 0 genome.wustl.edu 37 8 25226177 25226177 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 25226177 25226177 T C SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.3374 p.I1125T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 52 0 0 6 21 77.7778 TRIM35 0 genome.wustl.edu 37 8 27145238 27145238 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 27145238 27145238 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.1311 p.G437 0.906 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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 TRIM35 HGNC ENSG00000104228 25 0 0 2 11 84.6154 WRN 0 genome.wustl.edu 37 8 30924662 30924662 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 30924662 30924662 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.618 p.T206 0.985 pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 75 0 0 14 23 62.1622 FGFR1 0 genome.wustl.edu 37 8 38282215 38282215 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 38282215 38282215 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.841 p.R281W 1.000 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 71 0 0 14 33 70.2128 FNTA 0 genome.wustl.edu 37 8 42939925 42939925 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 42939925 42939925 T C SNP FNTA ENST00000302279 human ensembl 74_37 +1 known silent c.918 p.H306 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 72 0 0 6 43 87.7551 PRKDC 0 genome.wustl.edu 37 8 48744483 48744483 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 48744483 48744483 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8154 p.A2718 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 153 0 0 138 50 26.5957 ST18 0 genome.wustl.edu 37 8 53049172 53049172 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 53049172 53049172 C T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.2278 p.A760T 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 36 0 0 12 4 25 NPBWR1 0 genome.wustl.edu 37 8 53852868 53852868 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 53852868 53852868 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.401 p.R134H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 23 0 0 27 13 32.5 RGS20 0 genome.wustl.edu 37 8 54791841 54791841 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 54791841 54791841 A G SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known silent c.189 p.P63 0.628 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 215 0 0 187 56 23.0453 SOX17 0 genome.wustl.edu 37 8 55371702 55371702 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 55371702 55371702 A G SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known missense c.392 p.D131G 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 32 0 0 26 6 18.75 ANGPT2 0 genome.wustl.edu 37 8 6389908 6389908 + Missense_Mutation SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 6389908 6389908 T A SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.389 p.N130I 0.367 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 101 0 0 13 27 67.5 YTHDF3 0 genome.wustl.edu 37 8 64100299 64100299 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 64100299 64100299 G A SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known missense c.1727 p.R576H 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 28 0 0 17 7 29.1667 CSPP1 0 genome.wustl.edu 37 8 68102923 68102923 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 68102923 68102923 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.3244 p.V1082I 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 99 0 0 69 27 28.125 ARFGEF1 0 genome.wustl.edu 37 8 68138270 68138270 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 68138270 68138270 A G SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.4065 p.S1355 0.997 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 55 0 0 47 16 25.3968 LOC100132891 0 genome.wustl.edu 37 8 72755799 72755799 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 72755799 72755799 G A SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.163 p.G55R 0.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 14 0 0 16 4 20 PI15 0 genome.wustl.edu 37 8 75737491 75737491 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 75737491 75737491 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known missense c.7 p.A3T 0.337 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 410 0 0 359 143 28.4861 CRISPLD1 0 genome.wustl.edu 37 8 75937828 75937828 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 75937828 75937828 G A SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.1292 p.R431H 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 76 0 0 59 23 28.0488 ZFHX4 0 genome.wustl.edu 37 8 77616881 77616881 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 77616881 77616881 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.558 p.S186 0.963 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 47 0 0 42 13 23.6364 ZFHX4 0 genome.wustl.edu 37 8 77618388 77618388 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 77618388 77618388 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.2065 p.G689S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 38 0 0 41 20 32.7869 ZFHX4 0 genome.wustl.edu 37 8 77763452 77763452 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 77763452 77763452 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4295 p.R1432H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 41 0 0 30 12 28.5714 ZFHX4 0 genome.wustl.edu 37 8 77775464 77775464 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 77775464 77775464 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9514 p.P3172T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 14 0 0 16 10 38.4615 ZNF704 0 genome.wustl.edu 37 8 81577212 81577212 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 81577212 81577212 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known silent c.765 p.P255 0.021 NULL pfscan_Znf_C2H2 - no_errors ZNF704 HGNC ENSG00000164684 93 0 0 91 46 33.5766 DCAF4L2 0 genome.wustl.edu 37 8 88885905 88885905 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 88885905 88885905 A G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.295 p.Y99H 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 DCAF4L2 HGNC ENSG00000176566 126 0 0 131 38 22.4852 CDH17 0 genome.wustl.edu 37 8 95188798 95188798 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 95188798 95188798 T C SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known missense c.395 p.E132G 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 129 0 0 113 49 30.2469 GEM 0 genome.wustl.edu 37 8 95272569 95272569 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 95272569 95272569 G A SNP GEM ENST00000297596 human ensembl 74_37 -1 known missense c.163 p.R55C 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 56 0 0 73 18 19.7802 KIAA1429 0 genome.wustl.edu 37 8 95556069 95556069 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 95556069 95556069 G A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.165 p.D55 0.999 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 284 0 0 163 88 35.0598 PLEKHF2 0 genome.wustl.edu 37 8 96166569 96166569 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 96166569 96166569 A G SNP PLEKHF2 ENST00000315367 human ensembl 74_37 +1 known silent c.297 p.G99 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF2 HGNC ENSG00000175895 188 1 0.529101 144 76 34.5455 STK3 0 genome.wustl.edu 37 8 99468194 99468194 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 99468194 99468194 C T SNP STK3 ENST00000419617 human ensembl 74_37 -1 known missense c.1352 p.R451Q 1.000 pfam_Mst1_SARAH_domain,pfscan_SARAH_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 30 0 0 26 7 21.2121 ANKS6 0 genome.wustl.edu 37 9 101552652 101552652 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 101552652 101552652 A G SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.596 p.I199T 0.829 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 42 0 0 18 22 55 COL15A1 0 genome.wustl.edu 37 9 101706253 101706253 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 101706253 101706253 G A SNP COL15A1 ENST00000467052 human ensembl 74_37 +1 putative rna NULL NULL 0.393 - - - no_errors COL15A1 HGNC ENSG00000204291 25 0 0 8 7 46.6667 FKBP15 0 genome.wustl.edu 37 9 115969446 115969446 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 115969446 115969446 C T SNP FKBP15 ENST00000462889 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP15 HGNC ENSG00000119321 134 0 0 76 45 37.1901 TNC 0 genome.wustl.edu 37 9 117849113 117849113 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 117849113 117849113 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.897 p.C299 0.726 pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 138 0 0 62 52 45.614 CDK5RAP2 0 genome.wustl.edu 37 9 123223018 123223018 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 123223018 123223018 A G SNP CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known missense c.2111 p.L704P 0.116 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_Spindle_assoc,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors CDK5RAP2 HGNC ENSG00000136861 14 0 0 11 6 35.2941 PSMD5 0 genome.wustl.edu 37 9 123593733 123593733 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 123593733 123593733 A G SNP PSMD5 ENST00000210313 human ensembl 74_37 -1 known missense c.437 p.I146T 1.000 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 76 0 0 58 41 41.4141 OR1B1 0 genome.wustl.edu 37 9 125391779 125391779 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 125391779 125391779 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known silent c.36 p.P12 0.014 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 65 0 0 30 21 41.1765 OR5C1 0 genome.wustl.edu 37 9 125551337 125551337 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 125551337 125551337 C T SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known silent c.126 p.S42 0.993 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 96 0 0 61 37 37.7551 RC3H2 0 genome.wustl.edu 37 9 125617540 125617540 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 125617540 125617540 C T SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.2738 p.R913H 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 49 0 0 35 20 36.3636 OLFML2A 0 genome.wustl.edu 37 9 127549469 127549469 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 127549469 127549469 C T SNP OLFML2A ENST00000373580 human ensembl 74_37 +1 known silent c.306 p.N102 0.993 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 40 0 0 28 22 44 MAPKAP1 0 genome.wustl.edu 37 9 128419995 128419995 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 128419995 128419995 G A SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.433 p.R145C 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 67 0 0 89 15 14.4231 ENSG00000257524 0 genome.wustl.edu 37 9 130630187 130630187 + RNA SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 130630187 130630187 T A SNP ENSG00000257524 ENST00000476274 human ensembl 74_37 -1 known rna NULL NULL 0.594 - - - no_errors RP11-203J24.9 Clone_based_vega_gene ENSG00000257524 25 0 0 24 13 35.1351 ST6GALNAC6 0 genome.wustl.edu 37 9 130653011 130653011 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 130653011 130653011 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known silent c.609 p.A203 0.995 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 66 0 0 27 24 47.0588 PTGES2 0 genome.wustl.edu 37 9 130889772 130889772 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 130889772 130889772 C T SNP PTGES2 ENST00000338961 human ensembl 74_37 -1 known silent c.225 p.T75 0.063 NULL pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 9 0 0 2 3 60 MPDZ 0 genome.wustl.edu 37 9 13112118 13112118 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 13112118 13112118 T C SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.5629 p.I1877V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 42 0 0 31 5 13.8889 CCBL1 0 genome.wustl.edu 37 9 131599998 131599998 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 131599998 131599998 A C SNP CCBL1 ENST00000436267 human ensembl 74_37 -1 known missense c.815 p.L272R 0.991 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL1 HGNC ENSG00000171097 80 0 0 38 36 48.6486 NUP188 0 genome.wustl.edu 37 9 131745254 131745254 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 131745254 131745254 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known silent c.1743 p.S581 0.021 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 157 0 0 82 66 44.5946 NCS1 0 genome.wustl.edu 37 9 132980177 132980177 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 132980177 132980177 C T SNP NCS1 ENST00000372398 human ensembl 74_37 +1 known silent c.156 p.Y52 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCS1 HGNC ENSG00000107130 116 0 0 63 38 37.6238 NUP214 0 genome.wustl.edu 37 9 134010375 134010375 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 134010375 134010375 A G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.922 p.S308G 0.907 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 51 0 0 25 22 46.8085 NTNG2 0 genome.wustl.edu 37 9 135073571 135073571 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 135073571 135073571 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.432 p.G144 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 46 0 0 29 15 34.0909 SETX 0 genome.wustl.edu 37 9 135224793 135224793 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 135224793 135224793 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.23 p.T8M 0.995 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 59 0 0 26 14 35 CELP 0 genome.wustl.edu 37 9 135962189 135962189 + RNA SNP C C G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 135962189 135962189 C G SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CELP HGNC ENSG00000170827 13 0 0 12 4 25 SARDH 0 genome.wustl.edu 37 9 136594899 136594899 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 136594899 136594899 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known silent c.903 p.I301 0.649 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 66 0 0 31 33 51.5625 MRPS2 0 genome.wustl.edu 37 9 138395799 138395799 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 138395799 138395799 C T SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.711 p.P237 0.025 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 127 0 0 61 35 36.4583 CAMSAP1 0 genome.wustl.edu 37 9 138712718 138712718 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 138712718 138712718 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known silent c.3822 p.G1274 0.002 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 56 0 0 36 29 44.6154 LHX3 0 genome.wustl.edu 37 9 139096805 139096805 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 139096805 139096805 G A SNP LHX3 ENST00000371748 human ensembl 74_37 -1 known silent c.54 p.A18 0.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 13 0 0 7 2 22.2222 SEC16A 0 genome.wustl.edu 37 9 139358971 139358971 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 139358971 139358971 A G SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known silent c.4347 p.H1449 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 100 0 0 50 36 41.8605 C9orf172 0 genome.wustl.edu 37 9 139740978 139740978 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 139740978 139740978 C T SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known silent c.2112 p.D704 0.999 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 37 0 0 15 13 46.4286 DPH7 0 genome.wustl.edu 37 9 140450001 140450001 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 140450001 140450001 C T SNP DPH7 ENST00000277540 human ensembl 74_37 -1 known missense c.1049 p.R350Q 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DPH7 HGNC ENSG00000148399 74 0 0 39 27 40.9091 NFIB 0 genome.wustl.edu 37 9 14125655 14125655 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 14125655 14125655 C T SNP NFIB ENST00000397581 human ensembl 74_37 -1 known missense c.1036 p.G346R 1.000 pfam_CTF/NFI pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom - no_errors NFIB HGNC ENSG00000147862 150 1 0.662252 66 54 45 ZDHHC21 0 genome.wustl.edu 37 9 14662273 14662273 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 14662273 14662273 C T SNP ZDHHC21 ENST00000380916 human ensembl 74_37 -1 known missense c.305 p.R102H 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC21 HGNC ENSG00000175893 34 0 0 20 21 51.2195 FREM1 0 genome.wustl.edu 37 9 14776179 14776179 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 14776179 14776179 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4468 p.R1490W 0.270 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 40 0 0 19 17 47.2222 FREM1 0 genome.wustl.edu 37 9 14842482 14842482 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 14842482 14842482 G T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.1573 p.L525I 1.000 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 145 0 0 71 48 40.3361 CNTLN 0 genome.wustl.edu 37 9 17235698 17235698 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 17235698 17235698 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.577 p.R193W 0.837 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 93 0 0 62 29 31.8681 ADAMTSL1 0 genome.wustl.edu 37 9 18777309 18777309 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 18777309 18777309 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.3082 p.L1028 0.990 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 11 0 0 10 3 23.0769 VLDLR 0 genome.wustl.edu 37 9 2646515 2646515 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 2646515 2646515 C T SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known nonsense c.1666 p.R556* 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors VLDLR HGNC ENSG00000147852 54 0 0 31 31 50 LINGO2 0 genome.wustl.edu 37 9 27949660 27949660 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 27949660 27949660 T C SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1010 p.E337G 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 77 0 0 44 33 42.8571 DNAJA1 0 genome.wustl.edu 37 9 33029981 33029981 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 33029981 33029981 T C SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known missense c.409 p.C137R 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 56 0 0 92 10 9.80392 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 24 0 0 41 8 16.3265 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 37 0 0 52 6 10.3448 UNC13B 0 genome.wustl.edu 37 9 35386181 35386181 + Missense_Mutation SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35386181 35386181 C A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2738 p.P913H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 134 0 0 65 32 32.9897 RUSC2 0 genome.wustl.edu 37 9 35547647 35547647 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35547647 35547647 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.1129 p.A377T 0.998 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 111 0 0 68 34 33.3333 TESK1 0 genome.wustl.edu 37 9 35607366 35607366 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35607366 35607366 G A SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.580 p.V194M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 102 0 0 56 41 42.268 NPR2 0 genome.wustl.edu 37 9 35792488 35792488 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35792488 35792488 C T SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known missense c.83 p.A28V 1.000 superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 54 0 0 25 14 35.8974 TMEM8B 0 genome.wustl.edu 37 9 35846378 35846378 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35846378 35846378 G A SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.497 p.R166Q 1.000 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 27 0 0 12 16 57.1429 ZBTB5 0 genome.wustl.edu 37 9 37442433 37442433 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 37442433 37442433 C T SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.116 p.R39H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 79 0 0 42 30 41.6667 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 72 0 0 111 8 6.72269 TMEM2 0 genome.wustl.edu 37 9 74319518 74319518 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 74319518 74319518 A G SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3187 p.F1063L 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 80 0 0 76 12 13.6364 AGTPBP1 0 genome.wustl.edu 37 9 88248183 88248183 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 88248183 88248183 C T SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.1445 p.G482D 0.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 77 0 0 35 22 38.5965 SPTLC1 0 genome.wustl.edu 37 9 94800706 94800706 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 94800706 94800706 C T SNP SPTLC1 ENST00000469778 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPTLC1 HGNC ENSG00000090054 25 0 0 25 14 35.8974 NOL8 0 genome.wustl.edu 37 9 95076713 95076713 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 95076713 95076713 G A SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.2194 p.R732W 0.001 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 42 0 0 22 14 38.8889 NINJ1 0 genome.wustl.edu 37 9 95887239 95887239 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 95887239 95887239 G A SNP NINJ1 ENST00000375446 human ensembl 74_37 -1 known missense c.410 p.T137M 1.000 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ1 HGNC ENSG00000131669 64 0 0 37 24 39.3443 WNK2 0 genome.wustl.edu 37 9 96009888 96009888 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 96009888 96009888 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.1606 p.V536M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 16 0 0 11 3 21.4286 WNK2 0 genome.wustl.edu 37 9 96024184 96024184 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 96024184 96024184 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.3155 p.P1052L 0.994 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 44 0 0 23 19 45.2381 PHF2 0 genome.wustl.edu 37 9 96437282 96437282 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 96437282 96437282 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.2700 p.D900 0.935 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 73 0 0 27 23 46 HIATL1 0 genome.wustl.edu 37 9 97203361 97203361 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 97203361 97203361 C T SNP HIATL1 ENST00000375344 human ensembl 74_37 +1 known nonsense c.490 p.R164* 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIATL1 HGNC ENSG00000148110 98 0 0 38 45 54.2169 PTCH1 0 genome.wustl.edu 37 9 98241348 98241348 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 98241348 98241348 T C SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.1149 p.S383 0.006 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 73 0 0 37 27 42.1875 HSD17B3 0 genome.wustl.edu 37 9 99064279 99064279 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 99064279 99064279 C T SNP HSD17B3 ENST00000375263 human ensembl 74_37 -1 known nonsense c.108 p.W36* 0.669 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B3 HGNC ENSG00000130948 50 0 0 47 39 45.3488 ZNF510 0 genome.wustl.edu 37 9 99521474 99521474 + Silent SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 99521474 99521474 A G SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known silent c.1638 p.C546 0.915 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 ZNF510 HGNC ENSG00000081386 127 1 0.78125 98 69 41.3174 DRP2 0 genome.wustl.edu 37 X 100496692 100496692 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 100496692 100496692 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.595 p.R199C 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 58 0 0 2 33 94.2857 NXF2 0 genome.wustl.edu 37 X 101572352 101572352 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 101572352 101572352 C T SNP NXF2 ENST00000330252 human ensembl 74_37 +1 known nonsense c.250 p.R84* 0.000 NULL pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2 HGNC ENSG00000185554 54 0 0 27 15 35.7143 CHRDL1 0 genome.wustl.edu 37 X 109937472 109937472 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 109937472 109937472 G A SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.697 p.R233W 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 84 0 0 9 59 86.7647 CD40LG 0 genome.wustl.edu 37 X 135741286 135741286 + Missense_Mutation SNP A A C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 135741286 135741286 A C SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.498 p.Q166H 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 236 0 0 27 181 87.0192 GPR101 0 genome.wustl.edu 37 X 136113077 136113077 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 136113077 136113077 T C SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.757 p.K253E 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 118 0 0 9 90 90.9091 AFF2 0 genome.wustl.edu 37 X 148037756 148037756 + Silent SNP C C A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 148037756 148037756 C A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2181 p.T727 0.013 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 85 0 0 10 58 85.2941 PASD1 0 genome.wustl.edu 37 X 150817164 150817164 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 150817164 150817164 C T SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.707 p.A236V 0.026 NULL superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 61 0 0 9 47 83.9286 MAGEA12 0 genome.wustl.edu 37 X 151900304 151900304 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 151900304 151900304 A G SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known missense c.497 p.V166A 0.324 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 118 0 0 22 89 80.1802 ATP2B3 0 genome.wustl.edu 37 X 152801812 152801812 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 152801812 152801812 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.107 p.T36I 0.646 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 10 0 0 1 4 80 OPN1LW 0 genome.wustl.edu 37 X 153421852 153421852 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 153421852 153421852 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known silent c.828 p.A276 0.007 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 174 0 0 22 92 80.7018 PIGA 0 genome.wustl.edu 37 X 15349630 15349630 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 15349630 15349630 G A SNP PIGA ENST00000333590 human ensembl 74_37 -1 known silent c.423 p.H141 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 29 0 0 5 36 87.8049 PLXNA3 0 genome.wustl.edu 37 X 153694127 153694127 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 153694127 153694127 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.2469 p.P823 0.939 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 24 0 0 18 3 14.2857 G6PD 0 genome.wustl.edu 37 X 153762274 153762274 + Missense_Mutation SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 153762274 153762274 T C SNP G6PD ENST00000369620 human ensembl 74_37 -1 known missense c.746 p.Y249C 1.000 pfam_G6P_DH_C,pirsf_G6P_DH,prints_G6P_DH pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH - no_errors G6PD HGNC ENSG00000160211 41 0 0 38 4 9.52381 AKAP17A 0 genome.wustl.edu 37 X 1714399 1714399 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 1714399 1714399 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.885 p.A295 0.566 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 233 0 0 84 60 41.6667 PHKA2 0 genome.wustl.edu 37 X 18912415 18912415 + Silent SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 18912415 18912415 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.3444 p.T1148 0.413 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 45 0 0 8 20 71.4286 PHEX 0 genome.wustl.edu 37 X 22117222 22117222 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 22117222 22117222 G A SNP PHEX ENST00000379374 human ensembl 74_37 +1 known silent c.1032 p.P344 0.035 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 66 0 0 67 4 5.6338 MAGEB4 0 genome.wustl.edu 37 X 30260314 30260314 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 30260314 30260314 A G SNP MAGEB4 ENST00000378982 human ensembl 74_37 +1 known missense c.62 p.Q21R 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 26 0 0 20 4 16.6667 PPP2R3B 0 genome.wustl.edu 37 X 306382 306382 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 306382 306382 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.905 p.A302V 0.999 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 181 0 0 53 37 41.1111 FTHL17 0 genome.wustl.edu 37 X 31090062 31090062 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 31090062 31090062 G A SNP FTHL17 ENST00000359202 human ensembl 74_37 -1 known silent c.9 p.T3 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTHL17 HGNC ENSG00000132446 36 0 0 4 18 81.8182 PHF16 0 genome.wustl.edu 37 X 46884163 46884163 + Nonsense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 46884163 46884163 C T SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known nonsense c.322 p.R108* 0.016 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 27 0 0 2 27 93.1034 CFP 0 genome.wustl.edu 37 X 47486543 47486543 + Missense_Mutation SNP G G T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 47486543 47486543 G T SNP CFP ENST00000247153 human ensembl 74_37 -1 known missense c.763 p.P255T 1.000 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 17 0 0 3 9 75 FTSJ1 0 genome.wustl.edu 37 X 48339988 48339988 + RNA SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 48339988 48339988 C T SNP FTSJ1 ENST00000473235 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FTSJ1 HGNC ENSG00000068438 10 0 0 2 13 86.6667 KCND1 0 genome.wustl.edu 37 X 48820066 48820066 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 48820066 48820066 G A SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.1720 p.R574C 1.000 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 14 0 0 0 9 100 PPP1R3F 0 genome.wustl.edu 37 X 49142650 49142650 + Missense_Mutation SNP C C T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 49142650 49142650 C T SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.1498 p.R500W 0.989 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 11 0 0 0 6 100 FOXO4 0 genome.wustl.edu 37 X 70321551 70321551 + Missense_Mutation SNP A A G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 70321551 70321551 A G SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.1471 p.M491V 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 29 0 0 6 33 84.6154 MED12 0 genome.wustl.edu 37 X 70341606 70341606 + Silent SNP T T C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 70341606 70341606 T C SNP MED12 ENST00000333646 human ensembl 74_37 +1 known silent c.1041 p.S347 0.989 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 48 0 0 9 35 79.5455 NAP1L2 0 genome.wustl.edu 37 X 72434173 72434173 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 72434173 72434173 G A SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known silent c.156 p.A52 0.002 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 37 0 0 8 35 81.3953 ATP7A 0 genome.wustl.edu 37 X 77253979 77253979 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 77253979 77253979 G A SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.1341 p.T447 0.000 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 92 0 0 13 66 83.5443 POU3F4 0 genome.wustl.edu 37 X 82764008 82764008 + Missense_Mutation SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 82764008 82764008 G A SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.676 p.V226M 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 40 0 0 7 31 81.5789 TGIF2LX 0 genome.wustl.edu 37 X 89177144 89177144 + Silent SNP G G A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 89177144 89177144 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.60 p.P20 0.001 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 35 0 0 11 22 66.6667 NLGN4Y 0 genome.wustl.edu 37 Y 16733974 16733974 + RNA SNP T T A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 Y 16733974 16733974 T A SNP NLGN4Y ENST00000471252 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors NLGN4Y HGNC ENSG00000165246 22 0 0 3 17 85 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 86 0 0 66 17 20.4819 ENSG00000269175 0 genome.wustl.edu 37 1 101456193 101456193 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 101456193 101456193 A - DEL ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_del c.187 p.R66fs 0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 53 0 0 26 15 36.5854 CEPT1 0 genome.wustl.edu 37 1 111690320 111690320 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 111690320 111690320 A - DEL CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 55 0 0 18 13 41.9355 SYCP1 0 genome.wustl.edu 37 1 115527421 115527421 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 115527421 115527421 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2635 p.K881fs 0.018 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 141 1 0.704225 76 41 35.0427 ATP1A1OS 0 genome.wustl.edu 37 1 116935412 116935412 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 116935412 116935412 T - DEL ATP1A1OS ENST00000608511 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP1A1OS HGNC ENSG00000203865 20 0 0 15 11 42.3077 IGSF3 0 genome.wustl.edu 37 1 117122270 117122272 + In_Frame_Del DEL GTC GTC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GTC GTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 117122270 117122272 GTC - DEL IGSF3 ENST00000318837 human ensembl 74_37 -1 known in_frame_del c.3138_3136 p.D1046in_frame_del 0.020:0.025:0.014 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 32 0 0 25 6 19.3548 SPAG17 0 genome.wustl.edu 37 1 118567980 118567980 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 118567980 118567980 G - DEL SPAG17 ENST00000336338 human ensembl 74_37 -1 known frame_shift_del c.3790 p.Q1264fs 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 140 0 0 55 31 36.0465 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 14 0 0 1 10 90.9091 PLEKHO1 0 genome.wustl.edu 37 1 150131249 150131249 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 150131249 150131249 C - DEL PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known frame_shift_del c.659 p.Q222fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 58 0 0 29 12 29.2683 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 150917623 150917624 - G INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 22 0 0 21 8 27.5862 FLG 0 genome.wustl.edu 37 1 152286885 152286885 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 152286885 152286885 T - DEL FLG ENST00000368799 human ensembl 74_37 -1 known frame_shift_del c.477 p.E160fs 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 145 0 0 65 41 38.6792 SLC27A3 0 genome.wustl.edu 37 1 153751860 153751860 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 153751860 153751860 C - DEL SLC27A3 ENST00000368661 human ensembl 74_37 +1 known frame_shift_del c.1927 p.H645fs 0.247 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A3 HGNC ENSG00000143554 120 0 0 63 38 37.6238 KIAA0907 0 genome.wustl.edu 37 1 155886695 155886695 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 155886695 155886695 T - DEL KIAA0907 ENST00000465953 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA0907 HGNC ENSG00000132680 8 0 0 4 2 33.3333 TMEM79 0 genome.wustl.edu 37 1 156255497 156255498 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 156255497 156255498 - C INS TMEM79 ENST00000295694 human ensembl 74_37 +1 known frame_shift_ins c.480_481 p.R162fs 0.005:0.004 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 76 0 0 31 17 35.4167 RHBG 0 genome.wustl.edu 37 1 156354347 156354348 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 156354347 156354348 - C INS RHBG ENST00000400992 human ensembl 74_37 +1 known frame_shift_ins c.1168_1169 p.R393fs 0.006:0.723 superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 73 0 0 44 23 34.3284 ISG20L2 0 genome.wustl.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 156694023 156694023 G - DEL ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_del c.865 p.L289fs 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 108 0 0 64 36 36 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 32 0 0 17 13 43.3333 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 160012018 160012018 G - DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 90 0 0 56 31 35.6322 DEDD 0 genome.wustl.edu 37 1 161091815 161091818 + RNA DEL AAAA AAAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 161091815 161091818 AAAA - DEL DEDD ENST00000486041 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors DEDD HGNC ENSG00000158796 39 0 0 32 16 33.3333 EPHA2 0 genome.wustl.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 16462199 16462199 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1379 p.P460fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 78 0 0 64 19 22.8916 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 32 0 0 21 7 25 CCDC181 0 genome.wustl.edu 37 1 169366580 169366580 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 169366580 169366580 T - DEL CCDC181 ENST00000367806 human ensembl 74_37 -1 known frame_shift_del c.1265 p.K422fs 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 49 0 0 33 24 42.1053 CACNA1E 0 genome.wustl.edu 37 1 181708297 181708298 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 181708297 181708298 - T INS CACNA1E ENST00000367573 human ensembl 74_37 +1 known frame_shift_ins c.3627_3628 p.L1209fs 1.000:1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 181 0 0 62 31 33.3333 PRG4 0 genome.wustl.edu 37 1 186280259 186280259 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 186280259 186280259 T - DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known frame_shift_del c.3593 p.F1199fs 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 74 0 0 36 29 44.6154 NEK7 0 genome.wustl.edu 37 1 198222297 198222298 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 198222297 198222298 - A INS NEK7 ENST00000367385 human ensembl 74_37 +1 known frame_shift_ins c.185_186 p.V65fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 139 0 0 83 31 27.193 CAMSAP2 0 genome.wustl.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 200822549 200822549 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.3782 p.K1263fs 0.945 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 71 0 0 65 32 32.9897 RPS10P7 0 genome.wustl.edu 37 1 201489719 201489720 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 201489719 201489720 AA - DEL RPS10P7 ENST00000441932 human ensembl 74_37 +1 known rna NULL NULL 0.056:0.062 - - - no_errors RPS10P7 HGNC ENSG00000223396 9 0 0 7 3 30 ALPL 0 genome.wustl.edu 37 1 21889689 21889689 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 21889689 21889689 G - DEL ALPL ENST00000374832 human ensembl 74_37 +1 known frame_shift_del c.384 p.V130fs 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 86 0 0 50 15 23.0769 HSPG2 0 genome.wustl.edu 37 1 22211642 22211642 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 22211642 22211642 G - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.1219 p.Q407fs 0.999 pfam_Ig_I-set,superfamily_LDrepeatLR_classA_rpt,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 20 0 0 16 7 30.4348 MIR320B2 0 genome.wustl.edu 37 1 224444738 224444738 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 224444738 224444738 T - DEL MIR320B2 ENST00000408479 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors MIR320B2 HGNC ENSG00000221406 16 0 0 14 8 36.3636 OBSCN 0 genome.wustl.edu 37 1 228559729 228559729 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 228559729 228559729 C - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.21250 p.P7085fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 54 0 0 32 8 20 SPRTN 0 genome.wustl.edu 37 1 231488893 231488894 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 231488893 231488894 - T INS SPRTN ENST00000295050 human ensembl 74_37 +1 known frame_shift_ins c.1256_1257 p.I422fs 0.000:0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 54 0 0 53 35 39.7727 LYST 0 genome.wustl.edu 37 1 235993390 235993390 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 235993390 235993390 T - DEL LYST ENST00000468626 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LYST HGNC ENSG00000143669 11 0 0 1 2 66.6667 CHRM3 0 genome.wustl.edu 37 1 240072443 240072444 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 240072443 240072444 - A INS CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_ins c.1692_1693 p.R567fs 1.000:1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 54 0 0 46 26 36.1111 FMN2 0 genome.wustl.edu 37 1 240256986 240256986 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 240256986 240256986 C - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.1577 p.A528fs 0.003 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 10 0 0 4 5 55.5556 LYPLA2 0 genome.wustl.edu 37 1 24120832 24120833 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 24120832 24120833 - C INS LYPLA2 ENST00000374502 human ensembl 74_37 +1 known frame_shift_ins c.488_489 p.A166fs 0.000:0.001 NULL pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3 - no_errors LYPLA2 HGNC ENSG00000011009 27 0 0 17 6 26.087 MAN1C1 0 genome.wustl.edu 37 1 26104704 26104704 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 26104704 26104704 G - DEL MAN1C1 ENST00000374332 human ensembl 74_37 +1 known frame_shift_del c.1366 p.G457fs 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 63 0 0 43 14 24.5614 ARID1A 0 genome.wustl.edu 37 1 27059207 27059207 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27059207 27059207 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.1844 p.S617fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 118 0 0 64 29 31.1828 ARID1A 0 genome.wustl.edu 37 1 27097622 27097622 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27097622 27097622 A - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3211 p.K1072fs 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 48 0 0 32 26 44.8276 ARID1A 0 genome.wustl.edu 37 1 27100181 27100182 + In_Frame_Ins INS - - GCA TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27100181 27100182 - GCA INS ARID1A ENST00000324856 human ensembl 74_37 +1 known in_frame_ins c.3977_3978 p.1330in_frame_insQ 0.996:0.986 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 93 0 0 108 26 19.403 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 31 0 0 28 18 39.1304 GMEB1 0 genome.wustl.edu 37 1 29041386 29041386 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 29041386 29041386 A - DEL GMEB1 ENST00000480454 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors GMEB1 HGNC ENSG00000162419 8 0 0 7 4 36.3636 SNRNP40 0 genome.wustl.edu 37 1 31766006 31766007 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 31766006 31766007 AA - DEL SNRNP40 ENST00000463988 human ensembl 74_37 -1 known rna NULL NULL 0.422:0.401 - - - no_errors SNRNP40 HGNC ENSG00000060688 22 0 0 14 13 48.1481 TINAGL1 0 genome.wustl.edu 37 1 32051207 32051208 + RNA INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 32051207 32051208 - C INS TINAGL1 ENST00000463112 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TINAGL1 HGNC ENSG00000142910 22 0 0 15 11 42.3077 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384718 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 32384717 32384718 AA - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 17 0 0 17 5 22.7273 ENSG00000232335 0 genome.wustl.edu 37 1 36208989 36208989 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 36208989 36208989 A - DEL ENSG00000232335 ENST00000373226 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435D7.3 Clone_based_vega_gene ENSG00000232335 45 0 0 41 31 43.0556 ENSG00000271554 0 genome.wustl.edu 37 1 36479150 36479150 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 36479150 36479150 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 60 0 0 46 47 50.5376 DFFB 0 genome.wustl.edu 37 1 3800152 3800152 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 3800152 3800152 T - DEL DFFB ENST00000378209 human ensembl 74_37 +1 known frame_shift_del c.864 p.Y290fs 0.949 pfam_Apoptosis_DFF40 pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 133 0 0 91 51 35.9155 MACF1 0 genome.wustl.edu 37 1 39798936 39798936 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 39798936 39798936 A - DEL MACF1 ENST00000567887 human ensembl 74_37 +1 putative frame_shift_del c.6787 p.K2264fs 0.010 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 48 0 0 69 29 29.5918 PPCS 0 genome.wustl.edu 37 1 42925658 42925658 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 42925658 42925658 A - DEL PPCS ENST00000469615 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors PPCS HGNC ENSG00000127125 10 0 0 19 11 36.6667 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 19 0 0 8 2 20 MKNK1-AS1 0 genome.wustl.edu 37 1 47034187 47034188 + RNA INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 47034187 47034188 - A INS MKNK1-AS1 ENST00000602433 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MKNK1-AS1 HGNC ENSG00000269956 45 0 0 31 10 24.3902 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581141 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 47581140 47581141 AA - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.008 - - - no_errors CYP4Z1 HGNC ENSG00000186160 24 0 0 18 11 37.931 FAM151A 0 genome.wustl.edu 37 1 55081757 55081757 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 55081757 55081757 G - DEL FAM151A ENST00000302250 human ensembl 74_37 -1 known frame_shift_del c.351 p.T118fs 0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 74 0 0 39 23 37.0968 C1orf168 0 genome.wustl.edu 37 1 57219586 57219586 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 57219586 57219586 T - DEL C1orf168 ENST00000343433 human ensembl 74_37 -1 known frame_shift_del c.1153 p.M385fs 0.001 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 61 0 0 33 9 21.4286 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 48 0 0 35 23 39.6552 DOCK7 0 genome.wustl.edu 37 1 62941169 62941170 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 62941169 62941170 AA - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DOCK7 HGNC ENSG00000116641 10 0 0 7 10 58.8235 ENSG00000231080 0 genome.wustl.edu 37 1 67292738 67292738 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 67292738 67292738 A - DEL ENSG00000231080 ENST00000456389 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-342H21.2 Clone_based_vega_gene ENSG00000231080 66 0 0 59 27 31.3953 WDR63 0 genome.wustl.edu 37 1 85547084 85547084 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 85547084 85547084 A - DEL WDR63 ENST00000294664 human ensembl 74_37 +1 known frame_shift_del c.271 p.I93fs 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 106 0 0 78 36 31.5789 MTF2 0 genome.wustl.edu 37 1 93602676 93602678 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 93602676 93602678 AAA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997:0.993 - - - no_errors MTF2 HGNC ENSG00000143033 18 0 0 10 8 44.4444 ARHGAP29 0 genome.wustl.edu 37 1 94643144 94643144 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 94643144 94643144 T - DEL ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 34 0 0 26 20 43.4783 ARHGAP29 0 genome.wustl.edu 37 1 94668131 94668131 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 94668131 94668131 T - DEL ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known frame_shift_del c.1112 p.K371fs 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 125 0 0 123 29 19.0789 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 14 0 0 13 24 64.8649 PSD 0 genome.wustl.edu 37 10 104174959 104174959 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 104174959 104174959 G - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.785 p.P262fs 0.922 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 58 0 0 29 22 43.1373 KIAA1598 0 genome.wustl.edu 37 10 118661341 118661342 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 118661341 118661342 - G INS KIAA1598 ENST00000392903 human ensembl 74_37 -1 known frame_shift_ins c.1608_1607 p.T537fs 0.988:0.994 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 49 0 0 25 12 32.4324 C10orf88 0 genome.wustl.edu 37 10 124711509 124711510 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 124711509 124711510 - T INS C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_ins c.402_401 p.N134fs 0.606:0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 44 0 0 12 5 29.4118 C10orf90 0 genome.wustl.edu 37 10 128193320 128193320 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 128193320 128193320 G - DEL C10orf90 ENST00000544758 human ensembl 74_37 -1 known frame_shift_del c.740 p.P247fs 0.057 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 62 0 0 31 28 47.4576 DOCK1 0 genome.wustl.edu 37 10 129245705 129245705 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 129245705 129245705 C - DEL DOCK1 ENST00000280333 human ensembl 74_37 +1 known frame_shift_del c.5398 p.P1801fs 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 26 0 0 15 9 37.5 FAM171A1 0 genome.wustl.edu 37 10 15262984 15262985 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 15262984 15262985 - G INS FAM171A1 ENST00000378116 human ensembl 74_37 -1 known frame_shift_ins c.830_829 p.Q277fs 1.000:1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 139 0 0 98 35 26.3158 PTCHD3 0 genome.wustl.edu 37 10 27702951 27702951 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 27702951 27702951 G - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.229 p.R77fs 0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 65 0 0 29 26 47.2727 CCDC7 0 genome.wustl.edu 37 10 32833354 32833355 + RNA INS - - TG TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 32833354 32833355 - TG INS CCDC7 ENST00000471905 human ensembl 74_37 +1 known rna NULL NULL 0.016:0.016 - - - no_errors CCDC7 HGNC ENSG00000216937 20 0 0 20 6 23.0769 ENSG00000272373 0 genome.wustl.edu 37 10 43132292 43132292 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 43132292 43132292 A - DEL ENSG00000272373 ENST00000486614 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors ZNF33B Clone_based_vega_gene ENSG00000272373 53 0 0 30 27 47.3684 C10orf71 0 genome.wustl.edu 37 10 50532282 50532282 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 50532282 50532282 C - DEL C10orf71 ENST00000374144 human ensembl 74_37 +1 known frame_shift_del c.1692 p.T566fs 0.000 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 44 0 0 26 18 40.9091 NET1 0 genome.wustl.edu 37 10 5495005 5495005 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 5495005 5495005 T - DEL NET1 ENST00000465087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NET1 HGNC ENSG00000173848 17 0 0 20 10 33.3333 TFAM 0 genome.wustl.edu 37 10 60148570 60148571 + Frame_Shift_Del DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 60148570 60148571 AA - DEL TFAM ENST00000487519 human ensembl 74_37 +1 known frame_shift_del c.432_433 p.K147fs 0.006:0.936 superfamily_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 135 0 0 64 33 34.0206 ZNF365 0 genome.wustl.edu 37 10 64159513 64159513 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 64159513 64159513 A - DEL ZNF365 ENST00000395254 human ensembl 74_37 +1 known frame_shift_del c.1189 p.K399fs 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 35 0 0 7 42 85.7143 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 43 0 0 27 12 30.7692 DDX50 0 genome.wustl.edu 37 10 70706231 70706239 + In_Frame_Del DEL TCAGGCCGG TCAGGCCGG - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 TCAGGCCGG TCAGGCCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 70706231 70706239 TCAGGCCGG - DEL DDX50 ENST00000373585 human ensembl 74_37 +1 known in_frame_del c.2059_2067 p.SGR690in_frame_del 0.001:0.000:0.000:0.963:0.992:0.991:0.992:0.991:0.903 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 52 0 0 61 13 17.5676 ENSG00000200294 0 genome.wustl.edu 37 10 73940733 73940733 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 73940733 73940733 T - DEL ENSG00000200294 ENST00000363424 human ensembl 74_37 +1 novel rna NULL NULL 0.371 - - - no_errors SNORA36 RFAM ENSG00000200294 10 0 0 5 6 54.5455 ANXA7 0 genome.wustl.edu 37 10 75135834 75135836 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 75135834 75135836 AAA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors ANXA7 HGNC ENSG00000138279 15 0 0 4 4 50 SEC24C 0 genome.wustl.edu 37 10 75525560 75525560 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 75525560 75525560 C - DEL SEC24C ENST00000339365 human ensembl 74_37 +1 known frame_shift_del c.1369 p.Q459fs 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 186 0 0 118 64 35.1648 CDHR1 0 genome.wustl.edu 37 10 85973046 85973046 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 85973046 85973046 G - DEL CDHR1 ENST00000372117 human ensembl 74_37 +1 known frame_shift_del c.1982 p.G662fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 234 0 0 121 48 28.4024 FAM35A 0 genome.wustl.edu 37 10 88912390 88912390 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 88912390 88912390 A - DEL FAM35A ENST00000298786 human ensembl 74_37 +1 known frame_shift_del c.1279 p.T429fs 0.445 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 71 0 0 74 8 9.7561 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 80 0 0 57 27 32.1429 KIF20B 0 genome.wustl.edu 37 10 91478521 91478521 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 91478521 91478521 T - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1326 p.F444fs 0.995 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 76 0 0 54 24 30.7692 TNKS2 0 genome.wustl.edu 37 10 93601946 93601946 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 93601946 93601946 A - DEL TNKS2 ENST00000371627 human ensembl 74_37 +1 known frame_shift_del c.1857 p.N622fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 52 0 0 55 19 25.6757 CYP26A1 0 genome.wustl.edu 37 10 94833853 94833854 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 94833853 94833854 - G INS CYP26A1 ENST00000224356 human ensembl 74_37 +1 known frame_shift_ins c.162_163 p.E55fs 1.000:1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 10 0 0 4 4 50 LGI1 0 genome.wustl.edu 37 10 95537108 95537109 + RNA INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 95537108 95537109 - T INS LGI1 ENST00000485458 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.983 - - - no_errors LGI1 HGNC ENSG00000108231 36 0 0 27 17 38.6364 ENSG00000228553 0 genome.wustl.edu 37 10 95987002 95987002 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 95987002 95987002 A - DEL ENSG00000228553 ENST00000447227 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-391J2.3 Clone_based_vega_gene ENSG00000228553 25 0 0 18 8 30.7692 ZNF518A 0 genome.wustl.edu 37 10 97918856 97918856 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 97918856 97918856 A - DEL ZNF518A ENST00000316045 human ensembl 74_37 +1 known rna NULL NULL 0.867 - - - no_errors ZNF518A HGNC ENSG00000177853 56 0 0 13 58 81.6901 PIK3AP1 0 genome.wustl.edu 37 10 98376420 98376421 + Frame_Shift_Del DEL TC TC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 10 98376420 98376421 TC - DEL PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known frame_shift_del c.1990_1989 p.K664fs 1.000:1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 126 0 0 95 48 33.5664 LOC643733 0 genome.wustl.edu 37 11 104776358 104776358 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 104776358 104776358 T - DEL LOC643733 ENST00000532510 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 20 0 0 11 5 31.25 ARHGAP20 0 genome.wustl.edu 37 11 110450446 110450446 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 110450446 110450446 G - DEL ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known frame_shift_del c.3224 p.P1075fs 0.002 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 197 1 0.505051 82 35 29.9145 USP28 0 genome.wustl.edu 37 11 113673924 113673924 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 113673924 113673924 C - DEL USP28 ENST00000003302 human ensembl 74_37 -1 known frame_shift_del c.2818 p.V940fs 0.996 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 162 0 0 85 36 29.7521 REXO2 0 genome.wustl.edu 37 11 114320750 114320750 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 114320750 114320750 T - DEL REXO2 ENST00000544507 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors REXO2 HGNC ENSG00000076043 67 0 0 54 22 28.9474 MCAM 0 genome.wustl.edu 37 11 119182354 119182355 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 119182354 119182355 - G INS MCAM ENST00000264036 human ensembl 74_37 -1 known frame_shift_ins c.1293_1292 p.W432fs 0.110:0.996 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 134 0 0 119 10 7.75194 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 270 0 0 267 16 5.65371 BRSK2 0 genome.wustl.edu 37 11 1478187 1478187 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 1478187 1478187 C - DEL BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_del c.2008 p.P672fs 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BRSK2 HGNC ENSG00000174672 35 0 0 11 4 26.6667 LUZP2 0 genome.wustl.edu 37 11 24936024 24936024 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 24936024 24936024 A - DEL LUZP2 ENST00000336930 human ensembl 74_37 +1 known frame_shift_del c.462 p.I157fs 0.498 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 60 0 0 51 11 17.7419 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 42 0 0 43 17 28.3333 KIAA1549L 0 genome.wustl.edu 37 11 33628317 33628318 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 33628317 33628318 - C INS KIAA1549L ENST00000389726 human ensembl 74_37 +1 known frame_shift_ins c.4137_4138 p.T1381fs 0.961:1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 27 0 0 10 10 50 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283608 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 43283606 43283608 AAA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995:0.998 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 15 0 0 7 3 30 CKAP5 0 genome.wustl.edu 37 11 46799029 46799029 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 46799029 46799029 T - DEL CKAP5 ENST00000415402 human ensembl 74_37 -1 known frame_shift_del c.2822 p.N941fs 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 76 0 0 37 17 31.4815 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 56 0 0 43 20 31.746 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 46 0 0 36 13 26.5306 OR8I2 0 genome.wustl.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 55861308 55861308 T - DEL OR8I2 ENST00000302124 human ensembl 74_37 +1 known frame_shift_del c.525 p.C178fs 0.881 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 OR8I2 HGNC ENSG00000172154 155 1 0.641026 115 71 38.172 OR5T3 0 genome.wustl.edu 37 11 56019846 56019847 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 56019846 56019847 - T INS OR5T3 ENST00000303059 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.L58fs 0.006:0.617 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 64 0 0 57 34 37.3626 SMTNL1 0 genome.wustl.edu 37 11 57313808 57313808 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 57313808 57313808 A - DEL SMTNL1 ENST00000457912 human ensembl 74_37 +1 known frame_shift_del c.1230 p.K412fs 0.002 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 20 0 0 5 2 28.5714 B3GAT3 0 genome.wustl.edu 37 11 62388038 62388038 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 62388038 62388038 G - DEL B3GAT3 ENST00000265471 human ensembl 74_37 -1 known frame_shift_del c.188 p.P63fs 0.997 NULL pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 43 0 0 14 9 39.1304 CDC42BPG 0 genome.wustl.edu 37 11 64591974 64591974 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 64591974 64591974 G - DEL CDC42BPG ENST00000342711 human ensembl 74_37 -1 known frame_shift_del c.4627 p.L1543fs 0.169 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 91 0 0 53 16 23.1884 RELA 0 genome.wustl.edu 37 11 65422046 65422046 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 65422046 65422046 G - DEL RELA ENST00000406246 human ensembl 74_37 -1 known frame_shift_del c.1459 p.H487fs 0.023 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 110 0 0 55 21 27.6316 RIN1 0 genome.wustl.edu 37 11 66103453 66103453 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 66103453 66103453 G - DEL RIN1 ENST00000311320 human ensembl 74_37 -1 known frame_shift_del c.263 p.P88fs 0.991 smart_SH2,pfscan_SH2 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 14 0 0 6 4 40 TPP1 0 genome.wustl.edu 37 11 6636199 6636199 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6636199 6636199 C - DEL TPP1 ENST00000299427 human ensembl 74_37 -1 known frame_shift_del c.1449 p.I484fs 0.217 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 153 0 0 103 78 43.0939 DCHS1 0 genome.wustl.edu 37 11 6654124 6654125 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 6654124 6654125 - G INS DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_ins c.2619_2618 p.A874fs 0.843:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 38 0 0 35 21 37.5 NADSYN1 0 genome.wustl.edu 37 11 71193957 71193957 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 71193957 71193957 C - DEL NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_del c.1213 p.R406fs 1.000 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 61 0 0 32 27 45.7627 USP35 0 genome.wustl.edu 37 11 77920855 77920856 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 77920855 77920856 - C INS USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_ins c.1954_1955 p.T655fs 0.000:0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 12 0 0 20 4 16.6667 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 43 0 0 26 10 27.7778 CCDC90B 0 genome.wustl.edu 37 11 82984771 82984771 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 82984771 82984771 A - DEL CCDC90B ENST00000529073 human ensembl 74_37 -1 putative frame_shift_del c.479 p.L160fs 0.846 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 35 0 0 22 8 26.6667 FAT3 0 genome.wustl.edu 37 11 92600371 92600371 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 92600371 92600371 G - DEL FAT3 ENST00000298047 human ensembl 74_37 +1 known frame_shift_del c.12123 p.G4043fs 0.625 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 15 0 0 3 3 50 TMEM41B 0 genome.wustl.edu 37 11 9308018 9308018 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 11 9308018 9308018 A - DEL TMEM41B ENST00000299596 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41B HGNC ENSG00000166471 119 0 0 89 43 32.5758 C12orf42 0 genome.wustl.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 103695960 103695960 G - DEL C12orf42 ENST00000378113 human ensembl 74_37 -1 known frame_shift_del c.1009 p.R337fs 0.030 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 135 1 0.735294 69 37 34.9057 TAS2R10 0 genome.wustl.edu 37 12 10978282 10978282 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 10978282 10978282 A - DEL TAS2R10 ENST00000240619 human ensembl 74_37 -1 known frame_shift_del c.587 p.L196fs 0.009 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R10 HGNC ENSG00000121318 83 0 0 73 27 27 TRPV4 0 genome.wustl.edu 37 12 110221457 110221458 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 110221457 110221458 - G INS TRPV4 ENST00000261740 human ensembl 74_37 -1 known frame_shift_ins c.2585_2584 p.R862fs 0.754:0.883 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 56 0 0 24 10 29.4118 CCDC63 0 genome.wustl.edu 37 12 111311659 111311659 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 111311659 111311659 A - DEL CCDC63 ENST00000308208 human ensembl 74_37 +1 known frame_shift_del c.383 p.I131fs 0.872 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 107 0 0 65 27 29.3478 TAS2R50 0 genome.wustl.edu 37 12 11139431 11139432 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 11139431 11139432 - A INS TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_ins c.29_28 p.S10fs 0.001:0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 80 0 0 58 21 26.5823 NAA25 0 genome.wustl.edu 37 12 112485489 112485490 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 112485489 112485490 - A INS NAA25 ENST00000261745 human ensembl 74_37 -1 known frame_shift_ins c.1986_1985 p.S663fs 1.000:1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 335 0 0 168 80 32.2581 PLBD2 0 genome.wustl.edu 37 12 113825651 113825652 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 113825651 113825652 - A INS PLBD2 ENST00000280800 human ensembl 74_37 +1 known frame_shift_ins c.1542_1543 p.N514fs 1.000:1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD2 HGNC ENSG00000151176 239 0 0 178 93 34.3173 RBM19 0 genome.wustl.edu 37 12 114395612 114395612 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 114395612 114395612 T - DEL RBM19 ENST00000261741 human ensembl 74_37 -1 known frame_shift_del c.815 p.K272fs 0.001 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 133 0 0 62 37 37.3737 LRRC43 0 genome.wustl.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 122685346 122685346 C - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1674 p.I561fs 0.997 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 93 0 0 48 30 38.4615 AACS 0 genome.wustl.edu 37 12 125618593 125618593 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 125618593 125618593 G - DEL AACS ENST00000316519 human ensembl 74_37 +1 known frame_shift_del c.1594 p.G533fs 0.993 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 33 0 0 18 13 41.9355 KLHL42 0 genome.wustl.edu 37 12 27950769 27950769 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 27950769 27950769 G - DEL KLHL42 ENST00000381271 human ensembl 74_37 +1 known frame_shift_del c.1188 p.C399fs 0.988 NULL pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL42 HGNC ENSG00000087448 138 0 0 97 59 37.8205 FAM60A 0 genome.wustl.edu 37 12 31448178 31448178 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 31448178 31448178 T - DEL FAM60A ENST00000337682 human ensembl 74_37 -1 known frame_shift_del c.218 p.N73fs 1.000 NULL NULL - no_errors FAM60A HGNC ENSG00000139146 44 0 0 21 24 53.3333 PRMT8 0 genome.wustl.edu 37 12 3649793 3649793 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 3649793 3649793 C - DEL PRMT8 ENST00000382622 human ensembl 74_37 +1 known frame_shift_del c.97 p.Q35fs 1.000 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 97 0 0 58 42 42 KIF21A 0 genome.wustl.edu 37 12 39713784 39713784 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 39713784 39713784 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.3703 p.I1235fs 0.002 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 18 0 0 33 13 28.2609 C12orf40 0 genome.wustl.edu 37 12 40020151 40020151 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 40020151 40020151 G - DEL C12orf40 ENST00000324616 human ensembl 74_37 +1 known frame_shift_del c.13 p.S7fs 1.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 58 0 0 17 8 32 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 120 0 0 85 52 37.9562 COL2A1 0 genome.wustl.edu 37 12 48391482 48391483 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 48391482 48391483 - G INS COL2A1 ENST00000380518 human ensembl 74_37 -1 known frame_shift_ins c.438_437 p.G147fs 1.000:1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 138 0 0 32 93 74.4 WNT1 0 genome.wustl.edu 37 12 49374348 49374348 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 49374348 49374348 G - DEL WNT1 ENST00000293549 human ensembl 74_37 +1 known frame_shift_del c.500 p.G169fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 15 0 0 5 9 64.2857 LARP4 0 genome.wustl.edu 37 12 50848190 50848191 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 50848190 50848191 - A INS LARP4 ENST00000429001 human ensembl 74_37 +1 known frame_shift_ins c.1129_1130 p.N379fs 1.000:0.996 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC ENSG00000161813 50 0 0 33 25 43.1034 OR6C76 0 genome.wustl.edu 37 12 55820959 55820960 + Frame_Shift_Del DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 55820959 55820960 AA - DEL OR6C76 ENST00000328314 human ensembl 74_37 +1 known frame_shift_del c.922_923 p.K311fs 0.016:0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 34 0 0 23 17 42.5 MBD6 0 genome.wustl.edu 37 12 57921002 57921002 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 57921002 57921002 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2074 p.Q694fs 0.764 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 14 0 0 8 9 52.9412 LRIG3 0 genome.wustl.edu 37 12 59281569 59281588 + Frame_Shift_Del DEL ACAAAGTCTTTAAACTGGAA ACAAAGTCTTTAAACTGGAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 ACAAAGTCTTTAAACTGGAA ACAAAGTCTTTAAACTGGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 59281569 59281588 ACAAAGTCTTTAAACTGGAA - DEL LRIG3 ENST00000320743 human ensembl 74_37 -1 known frame_shift_del c.1093_1074 p.S360fs 1.000:1.000:1.000:0.931:0.916:0.989:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 120 0 0 82 11 11.828 AVPR1A 0 genome.wustl.edu 37 12 63541343 63541343 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 63541343 63541343 A - DEL AVPR1A ENST00000299178 human ensembl 74_37 -1 known frame_shift_del c.1053 p.F351fs 0.998 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 116 0 0 26 101 79.5276 EMG1 0 genome.wustl.edu 37 12 7084957 7084958 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 7084957 7084958 - G INS EMG1 ENST00000261406 human ensembl 74_37 +1 known frame_shift_ins c.718_719 p.V242fs 0.998:1.000 NULL pfam_Rbsml_bgen_MeTrfase_EMG1/NEP1 - no_errors EMG1 HGNC ENSG00000126749 124 0 0 53 34 39.0805 CEP290 0 genome.wustl.edu 37 12 88512304 88512305 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 88512304 88512305 - T INS CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_ins c.1673_1672 p.I558fs 1.000:0.983 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 19 0 0 12 2 14.2857 LINC00987 0 genome.wustl.edu 37 12 9393014 9393015 + RNA INS - - GCGGCGGAGGAGGCGC TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 9393014 9393015 - GCGGCGGAGGAGGCGC INS LINC00987 ENST00000427111 human ensembl 74_37 +1 known rna NULL NULL 0.996:0.996 - - - no_errors LINC00987 HGNC ENSG00000237248 13 0 0 6 2 25 PLXNC1 0 genome.wustl.edu 37 12 94653399 94653401 + In_Frame_Del DEL ACG ACG - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 ACG ACG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 12 94653399 94653401 ACG - DEL PLXNC1 ENST00000258526 human ensembl 74_37 +1 known in_frame_del c.3140_3142 p.D1048in_frame_del 0.001:0.001:0.848 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 60 0 0 25 16 39.0244 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 133 1 0.746269 55 23 29.4872 F10 0 genome.wustl.edu 37 13 113801712 113801712 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 113801712 113801712 A - DEL F10 ENST00000375559 human ensembl 74_37 +1 known frame_shift_del c.767 p.N257fs 0.111 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 49 0 0 35 15 30 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 37 0 0 22 14 38.8889 WASF3 0 genome.wustl.edu 37 13 27255386 27255387 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 27255386 27255387 - C INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.912_913 p.P307fs 0.439:0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 61 0 0 68 26 27.6596 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 9 0 0 9 15 62.5 MTRF1 0 genome.wustl.edu 37 13 41826691 41826691 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 41826691 41826691 A - DEL MTRF1 ENST00000239852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTRF1 HGNC ENSG00000120662 9 0 0 10 5 33.3333 TSC22D1 0 genome.wustl.edu 37 13 45150004 45150005 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 45150004 45150005 - G INS TSC22D1 ENST00000458659 human ensembl 74_37 -1 known frame_shift_ins c.207_206 p.A70fs 0.973:1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 54 0 0 39 18 31.5789 KLHL1 0 genome.wustl.edu 37 13 70293600 70293600 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 70293600 70293600 C - DEL KLHL1 ENST00000377844 human ensembl 74_37 -1 known frame_shift_del c.1916 p.G639fs 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 96 0 0 53 35 39.7727 DCT 0 genome.wustl.edu 37 13 95121040 95121040 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 13 95121040 95121040 A - DEL DCT ENST00000446125 human ensembl 74_37 -1 known frame_shift_del c.555 p.F185fs 0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 152 0 0 68 62 47.6923 SLC25A47 0 genome.wustl.edu 37 14 100795725 100795725 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 100795725 100795725 G - DEL SLC25A47 ENST00000361529 human ensembl 74_37 +1 known frame_shift_del c.670 p.G225fs 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A47 HGNC ENSG00000140107 105 0 0 56 24 30 DYNC1H1 0 genome.wustl.edu 37 14 102476416 102476416 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 102476416 102476416 T - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.6214 p.F2073fs 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 106 0 0 53 39 42.3913 KIF26A 0 genome.wustl.edu 37 14 104642584 104642584 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 104642584 104642584 G - DEL KIF26A ENST00000423312 human ensembl 74_37 +1 known frame_shift_del c.3459 p.D1155fs 0.014 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 19 0 0 6 6 50 OR4L1 0 genome.wustl.edu 37 14 20528659 20528659 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 20528659 20528659 T - DEL OR4L1 ENST00000315683 human ensembl 74_37 +1 known frame_shift_del c.456 p.L154fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 116 0 0 149 16 9.69697 THTPA 0 genome.wustl.edu 37 14 24026212 24026213 + Frame_Shift_Del DEL CA CA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 24026212 24026213 CA - DEL THTPA ENST00000288014 human ensembl 74_37 +1 known frame_shift_del c.246_247 p.T83fs 0.991:0.983 pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase - no_errors THTPA HGNC ENSG00000259431 105 0 0 52 27 34.1772 RNF31 0 genome.wustl.edu 37 14 24618577 24618578 + RNA INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 24618577 24618578 - T INS RNF31 ENST00000557878 human ensembl 74_37 +1 known rna NULL NULL 0.096:0.117 - - - no_errors RNF31 HGNC ENSG00000092098 37 0 0 24 8 25 NFATC4 0 genome.wustl.edu 37 14 24839090 24839091 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 24839090 24839091 - G INS NFATC4 ENST00000413692 human ensembl 74_37 +1 known frame_shift_ins c.675_676 p.A227fs 0.847:0.988 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 25 0 0 17 8 32 LGALS3 0 genome.wustl.edu 37 14 55605002 55605003 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 55605002 55605003 - G INS LGALS3 ENST00000254301 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.A87fs 0.660:0.730 NULL pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS3 HGNC ENSG00000131981 50 0 0 16 13 44.8276 FBXO34 0 genome.wustl.edu 37 14 55818555 55818555 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 55818555 55818555 T - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.1447 p.L485fs 0.997 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 106 0 0 78 51 39.5349 RHOJ 0 genome.wustl.edu 37 14 63735935 63735935 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 63735935 63735935 A - DEL RHOJ ENST00000557133 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RHOJ HGNC ENSG00000126785 45 0 0 30 10 25 SYNE2 0 genome.wustl.edu 37 14 64450478 64450478 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 64450478 64450478 A - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.2025 p.K677fs 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 44 0 0 48 22 31.4286 PCNX 0 genome.wustl.edu 37 14 71444748 71444749 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 71444748 71444749 - A INS PCNX ENST00000304743 human ensembl 74_37 +1 known frame_shift_ins c.1694_1695 p.R568fs 1.000:0.950 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 144 0 0 101 63 38.4146 DPF3 0 genome.wustl.edu 37 14 73137762 73137762 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 73137762 73137762 A - DEL DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DPF3 HGNC ENSG00000205683 10 0 0 1 4 80 ZDHHC22 0 genome.wustl.edu 37 14 77600151 77600151 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 77600151 77600151 C - DEL ZDHHC22 ENST00000319374 human ensembl 74_37 -1 known frame_shift_del c.667 p.V223fs 0.989 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC22 HGNC ENSG00000177108 30 0 0 22 11 33.3333 AK7 0 genome.wustl.edu 37 14 96875210 96875211 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 14 96875210 96875211 - A INS AK7 ENST00000267584 human ensembl 74_37 +1 known frame_shift_ins c.430_431 p.R146fs 0.996:0.945 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase - no_errors AK7 HGNC ENSG00000140057 62 0 0 40 18 31.0345 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 169 0 0 89 49 35.5072 SNORD116-26 0 genome.wustl.edu 37 15 25344663 25344663 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 25344663 25344663 A - DEL SNORD116-26 ENST00000516006 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-26 HGNC ENSG00000251815 78 0 0 75 15 16.6667 TRPM1 0 genome.wustl.edu 37 15 31294935 31294936 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 31294935 31294936 - T INS TRPM1 ENST00000542188 human ensembl 74_37 -1 known frame_shift_ins c.4019_4018 p.T1340fs 0.706:0.634 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 106 0 0 63 34 35.0515 THBS1 0 genome.wustl.edu 37 15 39875816 39875817 + Splice_Site INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 39875816 39875817 - G INS THBS1 ENST00000260356 human ensembl 74_37 +1 known splice_site_ins c.628-2_628-1 e3-1 1.000:1.000 - - - no_errors THBS1 HGNC ENSG00000137801 129 0 0 53 27 33.75 ENSG00000259536 0 genome.wustl.edu 37 15 40849315 40849316 + RNA INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 40849315 40849316 - A INS ENSG00000259536 ENST00000561460 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002 - - - no_errors RP11-111A22.1 Clone_based_vega_gene ENSG00000259536 10 0 0 12 13 52 INO80 0 genome.wustl.edu 37 15 41377755 41377755 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 41377755 41377755 T - DEL INO80 ENST00000361937 human ensembl 74_37 -1 known frame_shift_del c.685 p.R229fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 52 0 0 43 26 37.6812 UBR1 0 genome.wustl.edu 37 15 43252854 43252855 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 43252854 43252855 - T INS UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_ins c.4746_4745 p.N1582fs 0.742:0.838 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 36 0 0 33 22 40 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 88 0 0 19 29 60.4167 HMGN2P46 0 genome.wustl.edu 37 15 45848190 45848190 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 45848190 45848190 T - DEL HMGN2P46 ENST00000313559 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2P46 HGNC ENSG00000179362 59 0 0 33 14 29.7872 AP4E1 0 genome.wustl.edu 37 15 51221320 51221321 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 51221320 51221321 - G INS AP4E1 ENST00000261842 human ensembl 74_37 +1 known frame_shift_ins c.657_658 p.V220fs 1.000:1.000 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 76 0 0 72 31 30.0971 ENSG00000259185 0 genome.wustl.edu 37 15 52201131 52201132 + RNA DEL TT TT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 52201131 52201132 TT - DEL ENSG00000259185 ENST00000559302 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors RP11-56B16.4 Clone_based_vega_gene ENSG00000259185 93 0 0 52 18 25.7143 FAM214A 0 genome.wustl.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 52901069 52901069 T - DEL FAM214A ENST00000261844 human ensembl 74_37 -1 known frame_shift_del c.2042 p.N681fs 0.001 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 79 0 0 22 39 63.9344 FAM214A 0 genome.wustl.edu 37 15 52903388 52903388 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 52903388 52903388 A - DEL FAM214A ENST00000261844 human ensembl 74_37 -1 known frame_shift_del c.469 p.S157fs 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 113 0 0 92 10 9.80392 VPS13C 0 genome.wustl.edu 37 15 62256915 62256915 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 62256915 62256915 T - DEL VPS13C ENST00000261517 human ensembl 74_37 -1 known frame_shift_del c.3197 p.N1066fs 0.483 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 85 0 0 42 37 46.8354 OAZ2 0 genome.wustl.edu 37 15 64982422 64982422 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 64982422 64982422 A - DEL OAZ2 ENST00000560837 human ensembl 74_37 -1 known rna NULL NULL 0.872 - - - no_errors OAZ2 HGNC ENSG00000180304 21 0 0 23 14 37.8378 PIAS1 0 genome.wustl.edu 37 15 68468059 68468059 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 68468059 68468059 A - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known frame_shift_del c.1254 p.K420fs 0.631 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 25 0 0 12 9 42.8571 ANP32A 0 genome.wustl.edu 37 15 69072347 69072348 + RNA DEL GG GG - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 69072347 69072348 GG - DEL ANP32A ENST00000267918 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.017 - - - no_errors ANP32A HGNC ENSG00000140350 17 0 0 19 12 38.7097 KIF23 0 genome.wustl.edu 37 15 69708364 69708364 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 69708364 69708364 A - DEL KIF23 ENST00000260363 human ensembl 74_37 +1 known frame_shift_del c.43 p.S18fs 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 KIF23 HGNC ENSG00000137807 33 0 0 31 8 20.5128 MYO9A 0 genome.wustl.edu 37 15 72190580 72190580 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 72190580 72190580 A - DEL MYO9A ENST00000424560 human ensembl 74_37 -1 known frame_shift_del c.4264 p.Y1422fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 54 0 0 52 26 33.3333 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 160 0 0 48 100 67.5676 POLG 0 genome.wustl.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGC TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 89876827 89876828 - TGC INS POLG ENST00000268124 human ensembl 74_37 -1 known in_frame_ins c.159_158 p.56in_frame_insQ 0.004:0.005 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 20 0 0 14 5 26.3158 SLCO3A1 0 genome.wustl.edu 37 15 92706427 92706428 + RNA INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 15 92706427 92706428 - A INS SLCO3A1 ENST00000555513 human ensembl 74_37 +1 known rna NULL NULL 0.019:0.004 - - - no_errors SLCO3A1 HGNC ENSG00000176463 53 0 0 33 16 32.6531 MYH11 0 genome.wustl.edu 37 16 15802687 15802687 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 15802687 15802687 G - DEL MYH11 ENST00000452625 human ensembl 74_37 -1 known frame_shift_del c.5819 p.P1940fs 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH11 HGNC ENSG00000133392 32 0 0 12 8 40 MYH11 0 genome.wustl.edu 37 16 15820795 15820800 + In_Frame_Del DEL CTTCTT CTTCTT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CTTCTT CTTCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 15820795 15820800 CTTCTT - DEL MYH11 ENST00000396324 human ensembl 74_37 -1 known in_frame_del c.3789_3784 p.KK1262in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 262 0 0 153 79 34.0517 ATP2A1 0 genome.wustl.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 28913639 28913640 - C INS ATP2A1 ENST00000357084 human ensembl 74_37 +1 known frame_shift_ins c.2456_2457 p.R822fs 0.996:0.957 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 168 1 0.591716 69 26 27.3684 PRRT2 0 genome.wustl.edu 37 16 29825146 29825146 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 29825146 29825146 G - DEL PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_del c.771 p.G259fs 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 59 0 0 21 16 43.2432 ITGAL 0 genome.wustl.edu 37 16 30518138 30518138 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 30518138 30518138 C - DEL ITGAL ENST00000356798 human ensembl 74_37 +1 known frame_shift_del c.2469 p.P825fs 0.110 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 221 0 0 147 71 32.5688 KAT8 0 genome.wustl.edu 37 16 31139392 31139392 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 31139392 31139392 C - DEL KAT8 ENST00000448516 human ensembl 74_37 +1 known frame_shift_del c.703 p.K238fs 1.000 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 41 0 0 30 5 14.2857 AXIN1 0 genome.wustl.edu 37 16 347983 347983 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 347983 347983 C - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.1523 p.G508fs 0.021 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 26 0 0 6 7 53.8462 AXIN1 0 genome.wustl.edu 37 16 396234 396234 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 396234 396234 G - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.792 p.G265fs 0.355 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 106 0 0 78 37 32.1739 NAGPA 0 genome.wustl.edu 37 16 5083324 5083324 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 5083324 5083324 C - DEL NAGPA ENST00000312251 human ensembl 74_37 -1 known frame_shift_del c.492 p.L165fs 0.978 pfam_DUF2233 pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 23 0 0 8 11 57.8947 ALG1 0 genome.wustl.edu 37 16 5125391 5125391 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 5125391 5125391 C - DEL ALG1 ENST00000262374 human ensembl 74_37 +1 known frame_shift_del c.393 p.P133fs 1.000 NULL pfam_Glyco_trans_1 - no_errors ALG1 HGNC ENSG00000033011 208 0 0 83 49 37.1212 IRX3 0 genome.wustl.edu 37 16 54319068 54319068 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 54319068 54319068 C - DEL IRX3 ENST00000329734 human ensembl 74_37 -1 known frame_shift_del c.725 p.G242fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 14 0 0 8 6 42.8571 NUP93 0 genome.wustl.edu 37 16 56872937 56872937 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 56872937 56872937 T - DEL NUP93 ENST00000308159 human ensembl 74_37 +1 known frame_shift_del c.2092 p.F699fs 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 111 0 0 85 57 40.1408 FHOD1 0 genome.wustl.edu 37 16 67267851 67267852 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67267851 67267852 - G INS FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_ins c.1755_1754 p.P586fs 0.867:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 13 0 0 13 4 23.5294 PLEKHG4 0 genome.wustl.edu 37 16 67318242 67318242 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67318242 67318242 A - DEL PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known frame_shift_del c.1574 p.D525fs 0.846 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 41 0 0 26 11 29.7297 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67645338 67645339 - A INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.603_604 p.T203fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 69 0 0 46 27 36.9863 RLTPR 0 genome.wustl.edu 37 16 67691166 67691166 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67691166 67691166 C - DEL RLTPR ENST00000334583 human ensembl 74_37 +1 known frame_shift_del c.4142 p.V1383fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 25 0 0 12 6 33.3333 ENSG00000263126 0 genome.wustl.edu 37 16 67919838 67919838 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 67919838 67919838 T - DEL ENSG00000263126 ENST00000572067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTC-479C5.10 Clone_based_vega_gene ENSG00000263126 71 0 0 32 11 25.5814 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 35 0 0 8 21 72.4138 ADAT1 0 genome.wustl.edu 37 16 75634035 75634035 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 75634035 75634035 A - DEL ADAT1 ENST00000568478 human ensembl 74_37 -1 known rna NULL NULL 0.133 - - - no_errors ADAT1 HGNC ENSG00000065457 77 0 0 47 27 36.4865 USP10 0 genome.wustl.edu 37 16 84806174 84806175 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 84806174 84806175 - A INS USP10 ENST00000570191 human ensembl 74_37 +1 known frame_shift_ins c.2038_2039 p.L682fs 1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 281 0 0 134 67 33.3333 USP7 0 genome.wustl.edu 37 16 9010901 9010901 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 16 9010901 9010901 T - DEL USP7 ENST00000344836 human ensembl 74_37 -1 known frame_shift_del c.833 p.K278fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 134 0 0 80 53 39.8496 MAP2K4 0 genome.wustl.edu 37 17 12011155 12011155 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 12011155 12011155 T - DEL MAP2K4 ENST00000415385 human ensembl 74_37 +1 known frame_shift_del c.595 p.Y200fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K4 HGNC ENSG00000065559 174 0 0 111 60 35.0877 MYOCD 0 genome.wustl.edu 37 17 12642606 12642606 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 12642606 12642606 C - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.678 p.S229fs 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 72 0 0 36 20 35.7143 CRK 0 genome.wustl.edu 37 17 1326755 1326757 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 1326755 1326757 AAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010 - - - no_errors CRK HGNC ENSG00000167193 40 0 0 46 13 22.0339 WDR81 0 genome.wustl.edu 37 17 1638935 1638935 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 1638935 1638935 C - DEL WDR81 ENST00000409644 human ensembl 74_37 +1 known frame_shift_del c.5249 p.H1752fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 55 0 0 31 14 31.1111 CDRT15L2 0 genome.wustl.edu 37 17 20483073 20483074 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 20483073 20483074 - C INS CDRT15L2 ENST00000399044 human ensembl 74_37 +1 known frame_shift_ins c.17_18 p.T8fs 0.001:0.001 NULL NULL - no_errors CDRT15L2 HGNC ENSG00000214819 85 0 0 26 12 31.5789 PAFAH1B1 0 genome.wustl.edu 37 17 2570628 2570630 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 2570628 2570630 AAA - DEL PAFAH1B1 ENST00000397193 human ensembl 74_37 +1 known rna NULL NULL 0.007:0.006:0.001 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 8 0 0 5 3 37.5 CLUH 0 genome.wustl.edu 37 17 2601712 2601713 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 2601712 2601713 - C INS CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_ins c.1325_1324 p.D442fs 1.000:1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 48 0 0 27 4 12.9032 SEZ6 0 genome.wustl.edu 37 17 27296913 27296914 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 27296913 27296914 - C INS SEZ6 ENST00000317338 human ensembl 74_37 -1 known frame_shift_ins c.916_915 p.P305fs 0.596:0.497 superfamily_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 45 0 0 29 9 23.6842 NF1 0 genome.wustl.edu 37 17 29553477 29553478 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 29553477 29553478 - C INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.2026_2027 p.I679fs 0.997:0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 61 0 0 37 21 36.2069 NF1 0 genome.wustl.edu 37 17 29553478 29553478 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 29553478 29553478 C - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.2027 p.P678fs 0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 61 0 0 51 7 12.069 SLFN13 0 genome.wustl.edu 37 17 33771844 33771844 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 33771844 33771844 A - DEL SLFN13 ENST00000285013 human ensembl 74_37 -1 known frame_shift_del c.856 p.C286fs 0.896 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 156 0 0 180 45 20 ENSG00000272191 0 genome.wustl.edu 37 17 35300495 35300497 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 35300495 35300497 AAA - DEL ENSG00000272191 ENST00000607336 human ensembl 74_37 -1 known rna NULL NULL 0.027:0.005:0.001 - - - no_errors RP11-445F12.2 Clone_based_vega_gene ENSG00000272191 10 0 0 4 3 42.8571 SRCIN1 0 genome.wustl.edu 37 17 36708254 36708254 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 36708254 36708254 G - DEL SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_del c.2595 p.S866fs 0.998 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 90 0 0 57 16 21.9178 CACNB1 0 genome.wustl.edu 37 17 37341119 37341120 + Splice_Site INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 37341119 37341120 - G INS CACNB1 ENST00000394303 human ensembl 74_37 -1 known splice_site_ins c.649-3_649-2 e8-2 1.000:0.997 - - - no_errors CACNB1 HGNC ENSG00000067191 56 0 0 34 12 26.087 PNMT 0 genome.wustl.edu 37 17 37826415 37826415 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 37826415 37826415 G - DEL PNMT ENST00000269582 human ensembl 74_37 +1 known frame_shift_del c.622 p.H210fs 0.997 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors PNMT HGNC ENSG00000141744 34 0 0 16 3 15.7895 LOC101929693 0 genome.wustl.edu 37 17 38499151 38499151 + RNA DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 38499151 38499151 G - DEL LOC101929693 ENST00000581080 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2267D19.2 Clone_based_vega_gene ENSG00000265666 179 0 0 102 63 38.1818 HAP1 0 genome.wustl.edu 37 17 39888235 39888237 + In_Frame_Del DEL CTT CTT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 39888235 39888237 CTT - DEL HAP1 ENST00000310778 human ensembl 74_37 -1 known in_frame_del c.850_848 p.E283in_frame_del 0.002:0.003:0.002 pfam_HAP1_N pfam_HAP1_N - no_errors HAP1 HGNC ENSG00000173805 10 0 0 12 4 25 VPS25 0 genome.wustl.edu 37 17 40925964 40925965 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 40925964 40925965 - C INS VPS25 ENST00000589577 human ensembl 74_37 +1 known frame_shift_ins c.267_268 p.R91fs 0.000:0.000 NULL pfam_ESCRT-II_cplx_vps25-sub - no_errors VPS25 HGNC ENSG00000131475 17 0 0 12 6 33.3333 NBR2 0 genome.wustl.edu 37 17 41297124 41297124 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 41297124 41297124 A - DEL NBR2 ENST00000460115 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors NBR2 HGNC ENSG00000198496 21 0 0 14 8 36.3636 C17orf53 0 genome.wustl.edu 37 17 42225763 42225763 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 42225763 42225763 A - DEL C17orf53 ENST00000319977 human ensembl 74_37 +1 known frame_shift_del c.592 p.A200fs 0.949 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 136 0 0 84 57 40.4255 GPATCH8 0 genome.wustl.edu 37 17 42483339 42483339 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 42483339 42483339 T - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known frame_shift_del c.573 p.A192fs 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 154 0 0 82 40 32.7869 KANSL1 0 genome.wustl.edu 37 17 44109601 44109601 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 44109601 44109601 G - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.2902 p.Q968fs 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 94 0 0 36 25 40.9836 PELP1 0 genome.wustl.edu 37 17 4575894 4575894 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 4575894 4575894 G - DEL PELP1 ENST00000301396 human ensembl 74_37 -1 known frame_shift_del c.2824 p.L942fs 0.989 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 21 0 0 21 9 30 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 82 0 0 53 28 34.5679 ANKRD40 0 genome.wustl.edu 37 17 48777220 48777221 + In_Frame_Ins INS - - TCA TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 48777220 48777221 - TCA INS ANKRD40 ENST00000285243 human ensembl 74_37 -1 known in_frame_ins c.318_317 p.107in_frame_insD 0.002:0.003 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 35 0 0 36 8 18.1818 EPX 0 genome.wustl.edu 37 17 56272511 56272511 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 56272511 56272511 C - DEL EPX ENST00000225371 human ensembl 74_37 +1 known frame_shift_del c.781 p.C263fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 128 0 0 59 35 37.234 RNF43 0 genome.wustl.edu 37 17 56448297 56448298 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 56448297 56448298 - G INS RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_ins c.350_349 p.R117fs 1.000:1.000 superfamily_PAS pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 70 0 0 44 20 31.25 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 60 0 0 53 27 33.75 BPTF 0 genome.wustl.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 65899951 65899951 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.2968 p.E993fs 0.993 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 53 0 0 32 23 41.8182 BPTF 0 genome.wustl.edu 37 17 65944266 65944266 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 65944266 65944266 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.8148 p.K2718fs 0.048 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 106 0 0 72 37 33.945 PHF23 0 genome.wustl.edu 37 17 7139763 7139764 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7139763 7139764 - G INS PHF23 ENST00000320316 human ensembl 74_37 -1 known frame_shift_ins c.483_482 p.A162fs 0.999:0.999 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 112 0 0 65 36 35.6436 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73491063 73491063 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.2676 p.S895fs 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 105 0 0 72 32 30.7692 CASKIN2 0 genome.wustl.edu 37 17 73498972 73498973 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 73498972 73498973 - G INS CASKIN2 ENST00000321617 human ensembl 74_37 -1 known frame_shift_ins c.2183_2182 p.Q728fs 0.990:0.992 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 37 0 0 39 12 23.5294 SNHG16 0 genome.wustl.edu 37 17 74557821 74557821 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 74557821 74557821 T - DEL SNHG16 ENST00000591956 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG16 HGNC ENSG00000163597 36 0 0 29 3 9.375 TNRC6C 0 genome.wustl.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 76046980 76046980 A - DEL TNRC6C ENST00000335749 human ensembl 74_37 +1 known frame_shift_del c.1837 p.N615fs 0.960 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 130 1 0.763359 57 35 38.0435 CHD3 0 genome.wustl.edu 37 17 7796827 7796827 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7796827 7796827 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.733 p.P246fs 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 64 0 0 29 39 57.3529 CHD3 0 genome.wustl.edu 37 17 7809229 7809229 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 7809229 7809229 G - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.4280 p.M1429fs 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 95 0 0 68 40 37.037 WDR45B 0 genome.wustl.edu 37 17 80585121 80585121 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 80585121 80585121 T - DEL WDR45B ENST00000392325 human ensembl 74_37 -1 known frame_shift_del c.291 p.E97fs 0.959 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45B HGNC ENSG00000141580 175 0 0 89 68 43.3121 ZNF750 0 genome.wustl.edu 37 17 80788099 80788099 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 17 80788099 80788099 T - DEL ZNF750 ENST00000269394 human ensembl 74_37 -1 known frame_shift_del c.2091 p.K697fs 0.876 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 85 0 0 65 26 28.5714 ANKRD20A5P 0 genome.wustl.edu 37 18 14225639 14225639 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 14225639 14225639 A - DEL ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 25 0 0 20 13 39.3939 OSBPL1A 0 genome.wustl.edu 37 18 21745097 21745097 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 21745097 21745097 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2682 p.K894fs 0.958 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 197 1 0.505051 112 52 31.7073 OSBPL1A 0 genome.wustl.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 21750331 21750331 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2378 p.N793fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 129 0 0 80 34 29.8246 B4GALT6 0 genome.wustl.edu 37 18 29264323 29264325 + In_Frame_Del DEL AGA AGA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 29264323 29264325 AGA - DEL B4GALT6 ENST00000306851 human ensembl 74_37 -1 known in_frame_del c.67_65 p.F22in_frame_del 1.000:1.000:1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 87 0 0 38 14 26.9231 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025535 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 3025533 3025535 AAA - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 19 0 0 16 5 23.8095 SETBP1 0 genome.wustl.edu 37 18 42281746 42281746 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 42281746 42281746 A - DEL SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_del c.435 p.N147fs 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 80 0 0 45 28 38.3562 ZBTB7C 0 genome.wustl.edu 37 18 45567076 45567076 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 45567076 45567076 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.403 p.E135fs 0.994 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 ZBTB7C HGNC ENSG00000184828 31 0 0 35 17 32.6923 EPB41L3 0 genome.wustl.edu 37 18 5443847 5443847 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 5443847 5443847 T - DEL EPB41L3 ENST00000341928 human ensembl 74_37 -1 known frame_shift_del c.519 p.K173fs 0.999 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 122 1 0.813008 50 33 39.759 ATP8B1 0 genome.wustl.edu 37 18 55329760 55329760 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 55329760 55329760 A - DEL ATP8B1 ENST00000283684 human ensembl 74_37 -1 known frame_shift_del c.2373 p.P792fs 0.967 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 64 0 0 48 36 42.8571 SALL3 0 genome.wustl.edu 37 18 76755298 76755299 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 76755298 76755299 - C INS SALL3 ENST00000537592 human ensembl 74_37 +1 known frame_shift_ins c.3307_3308 p.P1106fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 14 0 0 7 4 36.3636 TXNDC2 0 genome.wustl.edu 37 18 9887814 9887814 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 18 9887814 9887814 G - DEL TXNDC2 ENST00000306084 human ensembl 74_37 +1 known frame_shift_del c.1338 p.D448fs 0.276 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 60 0 0 35 19 35.1852 CNN2 0 genome.wustl.edu 37 19 1037969 1037969 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1037969 1037969 T - DEL CNN2 ENST00000606983 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNN2 HGNC ENSG00000064666 14 0 0 20 7 25.9259 C19orf26 0 genome.wustl.edu 37 19 1231206 1231206 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1231206 1231206 C - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.1108 p.D370fs 0.616 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 81 0 0 35 21 37.5 GIPC1 0 genome.wustl.edu 37 19 14593640 14593640 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 14593640 14593640 G - DEL GIPC1 ENST00000345425 human ensembl 74_37 -1 known frame_shift_del c.149 p.P50fs 0.995 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC1 HGNC ENSG00000123159 8 0 0 10 4 28.5714 TPM4 0 genome.wustl.edu 37 19 16199871 16199873 + In_Frame_Del DEL GAA GAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 16199871 16199873 GAA - DEL TPM4 ENST00000344824 human ensembl 74_37 +1 known in_frame_del c.580_582 p.E196in_frame_del 1.000:1.000:1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM4 HGNC ENSG00000167460 85 0 0 57 27 32.1429 HAUS8 0 genome.wustl.edu 37 19 17186232 17186232 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17186232 17186232 T - DEL HAUS8 ENST00000253669 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL NULL - no_errors HAUS8 HGNC ENSG00000131351 57 0 0 32 10 23.8095 OCEL1 0 genome.wustl.edu 37 19 17338803 17338803 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 17338803 17338803 C - DEL OCEL1 ENST00000215061 human ensembl 74_37 +1 known frame_shift_del c.607 p.Q204fs 0.038 pfam_Occludin_RNApol2_elong_fac_ELL pfam_Occludin_RNApol2_elong_fac_ELL - no_errors OCEL1 HGNC ENSG00000099330 69 0 0 31 29 48.3333 ATP8B3 0 genome.wustl.edu 37 19 1795906 1795906 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 1795906 1795906 C - DEL ATP8B3 ENST00000539485 human ensembl 74_37 -1 known frame_shift_del c.2023 p.A675fs 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 92 0 0 62 27 30.3371 DOT1L 0 genome.wustl.edu 37 19 2226423 2226423 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 2226423 2226423 G - DEL DOT1L ENST00000398665 human ensembl 74_37 +1 known frame_shift_del c.3903 p.A1303fs 0.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 38 0 0 11 6 35.2941 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 84 0 0 48 27 36 KMT2B 0 genome.wustl.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 36223002 36223002 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5631 p.G1879fs 0.997 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 15 0 0 9 3 25 HNRNPL 0 genome.wustl.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 39330958 39330959 - G INS HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_ins c.1011_1010 p.P338fs 1.000:1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 32 0 0 11 6 35.2941 PAK4 0 genome.wustl.edu 37 19 39664319 39664319 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 39664319 39664319 C - DEL PAK4 ENST00000358301 human ensembl 74_37 +1 known frame_shift_del c.767 p.S258fs 0.784 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 10 0 0 10 5 33.3333 SPTBN4 0 genome.wustl.edu 37 19 41066082 41066082 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 41066082 41066082 G - DEL SPTBN4 ENST00000352632 human ensembl 74_37 +1 known frame_shift_del c.5688 p.A1898fs 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 42 0 0 14 5 26.3158 CIC 0 genome.wustl.edu 37 19 42794441 42794441 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 42794441 42794441 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.1521 p.P509fs 0.126 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 104 0 0 53 35 39.7727 XRCC1 0 genome.wustl.edu 37 19 44056299 44056300 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 44056299 44056300 - C INS XRCC1 ENST00000262887 human ensembl 74_37 -1 known frame_shift_ins c.952_951 p.K317fs 1.000:1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 80 0 0 57 18 24 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 15 0 0 14 6 30 RTN2 0 genome.wustl.edu 37 19 45996513 45996513 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 45996513 45996513 G - DEL RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_del c.938 p.P313fs 0.005 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 168 0 0 84 55 39.5683 GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 48197890 48197891 - C INS GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 26 0 0 19 6 24 DBP 0 genome.wustl.edu 37 19 49136701 49136703 + In_Frame_Del DEL CTT CTT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 49136701 49136703 CTT - DEL DBP ENST00000222122 human ensembl 74_37 -1 known in_frame_del c.762_760 p.K254in_frame_del 1.000:1.000:1.000 pfam_bZIP,smart_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors DBP HGNC ENSG00000105516 418 0 0 174 80 31.4961 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 34 0 0 22 12 35.2941 ATF5 0 genome.wustl.edu 37 19 50434211 50434211 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 50434211 50434211 C - DEL ATF5 ENST00000423777 human ensembl 74_37 +1 known frame_shift_del c.104 p.L37fs 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 12 0 0 3 2 40 ZNF702P 0 genome.wustl.edu 37 19 53473884 53473885 + RNA INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 53473884 53473885 - T INS ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.003 - - - no_errors ZNF702P HGNC ENSG00000242779 124 0 0 100 69 40.8284 LILRB1 0 genome.wustl.edu 37 19 55148334 55148334 + RNA DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55148334 55148334 G - DEL LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.187 - - - no_errors LILRB1 HGNC ENSG00000104972 68 0 0 35 14 28.5714 LILRB1 0 genome.wustl.edu 37 19 55148385 55148385 + RNA DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55148385 55148385 C - DEL LILRB1 ENST00000462628 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LILRB1 HGNC ENSG00000104972 21 0 0 18 9 33.3333 DNAAF3 0 genome.wustl.edu 37 19 55672059 55672059 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55672059 55672059 C - DEL DNAAF3 ENST00000527223 human ensembl 74_37 -1 known frame_shift_del c.1201 p.D401fs 0.002 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 122 0 0 99 43 30.2817 BRSK1 0 genome.wustl.edu 37 19 55815035 55815036 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 55815035 55815036 - C INS BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_ins c.1175_1176 p.R395fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 98 0 0 32 38 54.2857 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 28 0 0 15 11 42.3077 DENND1C 0 genome.wustl.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 19 6477251 6477251 G - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.491 p.P164fs 0.983 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 43 0 0 22 17 43.5897 AFF3 0 genome.wustl.edu 37 2 100623849 100623849 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 100623849 100623849 A - DEL AFF3 ENST00000356421 human ensembl 74_37 -1 known frame_shift_del c.323 p.L108fs 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 85 0 0 40 40 50 RGPD4 0 genome.wustl.edu 37 2 108489258 108489258 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 108489258 108489258 A - DEL RGPD4 ENST00000354986 human ensembl 74_37 +1 known frame_shift_del c.4798 p.K1601fs 0.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 505 0 0 398 70 14.9573 SEPT10 0 genome.wustl.edu 37 2 110301827 110301828 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 110301827 110301828 - T INS SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_ins c.1507_1506 p.L502fs 0.002:0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 56 0 0 26 12 31.5789 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 112614257 112614258 - T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 64 0 0 70 7 9.09091 DPP10 0 genome.wustl.edu 37 2 116534869 116534869 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 116534869 116534869 A - DEL DPP10 ENST00000393147 human ensembl 74_37 +1 known frame_shift_del c.1319 p.I442fs 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 47 0 0 25 20 44.4444 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 43 0 0 22 32 59.2593 WDR33 0 genome.wustl.edu 37 2 128477624 128477624 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 128477624 128477624 G - DEL WDR33 ENST00000322313 human ensembl 74_37 -1 known frame_shift_del c.1975 p.Q659fs 0.995 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 63 0 0 41 21 33.871 POTEI 0 genome.wustl.edu 37 2 131258140 131258141 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 131258140 131258141 - T INS POTEI ENST00000451531 human ensembl 74_37 -1 novel frame_shift_ins c.886_885 p.A295fs 0.057:0.054 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEI HGNC ENSG00000196834 220 0 0 138 15 9.80392 LOC150776 0 genome.wustl.edu 37 2 132259053 132259053 + RNA DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 132259053 132259053 G - DEL LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 46 0 0 17 9 34.6154 LOC100129961 0 genome.wustl.edu 37 2 135625119 135625120 + RNA DEL CT CT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 135625119 135625120 CT - DEL LOC100129961 ENST00000392929 human ensembl 74_37 -1 known rna NULL NULL 0.755:0.455 - - - no_errors AC016725.4 Clone_based_vega_gene ENSG00000224043 55 0 0 42 25 37.3134 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 130 0 0 119 13 9.84848 TNFAIP6 0 genome.wustl.edu 37 2 152236046 152236049 + Frame_Shift_Del DEL AAAA AAAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 152236046 152236049 AAAA - DEL TNFAIP6 ENST00000243347 human ensembl 74_37 +1 known frame_shift_del c.833_834 p.*278fs 0.961:0.953 NULL pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link - no_errors TNFAIP6 HGNC ENSG00000123610 65 0 0 42 30 41.6667 PRPF40A 0 genome.wustl.edu 37 2 153526848 153526849 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 153526848 153526849 - T INS PRPF40A ENST00000410080 human ensembl 74_37 -1 known frame_shift_ins c.1527_1526 p.N509fs 1.000:1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 91 0 0 34 16 32 ENSG00000223642 0 genome.wustl.edu 37 2 160252408 160252409 + RNA INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 160252408 160252409 - A INS ENSG00000223642 ENST00000594921 human ensembl 74_37 +1 known rna NULL NULL 0.412:0.401 - - - no_errors AC008277.1 Clone_based_vega_gene ENSG00000223642 15 0 0 13 9 40.9091 MYCN 0 genome.wustl.edu 37 2 16082314 16082314 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 16082314 16082314 C - DEL MYCN ENST00000281043 human ensembl 74_37 +1 known frame_shift_del c.128 p.P45fs 1.000 pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 37 0 0 36 9 20 IFIH1 0 genome.wustl.edu 37 2 163134715 163134716 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 163134715 163134716 - T INS IFIH1 ENST00000263642 human ensembl 74_37 -1 known frame_shift_ins c.1765_1764 p.A588fs 1.000:1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC ENSG00000115267 70 0 0 37 22 37.2881 HOXD9 0 genome.wustl.edu 37 2 176987697 176987697 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 176987697 176987697 T - DEL HOXD9 ENST00000249499 human ensembl 74_37 +1 known frame_shift_del c.201 p.F68fs 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 12 0 0 3 4 57.1429 SMC6 0 genome.wustl.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 17898126 17898126 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1306 p.I436fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 47 0 0 37 28 43.0769 TTN-AS1 0 genome.wustl.edu 37 2 179392052 179392052 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179392052 179392052 A - DEL TTN-AS1 ENST00000587576 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors TTN-AS1 HGNC ENSG00000237298 31 0 0 13 38 74.5098 TTN 0 genome.wustl.edu 37 2 179590725 179590725 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 179590725 179590725 T - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.16592 p.N5531fs 0.978 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 96 0 0 38 15 28.3019 ANKAR 0 genome.wustl.edu 37 2 190541787 190541790 + Frame_Shift_Del DEL AAAG AAAG - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 190541787 190541790 AAAG - DEL ANKAR ENST00000313581 human ensembl 74_37 +1 known frame_shift_del c.571_574 p.K191fs 0.061:0.035:0.047:0.061 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 28 0 0 20 3 13.0435 PMS1 0 genome.wustl.edu 37 2 190670540 190670540 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 190670540 190670540 A - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478 p.K163fs 0.001 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 18 0 0 12 11 47.8261 OSR1 0 genome.wustl.edu 37 2 19553155 19553155 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 19553155 19553155 C - DEL OSR1 ENST00000272223 human ensembl 74_37 -1 known frame_shift_del c.412 p.E138fs 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 88 0 0 49 25 33.7838 CCDC150 0 genome.wustl.edu 37 2 197531519 197531520 + Frame_Shift_Del DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 197531519 197531520 AA - DEL CCDC150 ENST00000389175 human ensembl 74_37 +1 known frame_shift_del c.839_840 p.K283fs 0.374:0.000 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 48 0 0 20 13 39.3939 ALS2 0 genome.wustl.edu 37 2 202609120 202609120 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 202609120 202609120 T - DEL ALS2 ENST00000264276 human ensembl 74_37 -1 known frame_shift_del c.2031 p.D678fs 0.950 NULL pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 66 0 0 56 18 24.3243 SUMO1 0 genome.wustl.edu 37 2 203096349 203096349 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 203096349 203096349 A - DEL SUMO1 ENST00000409627 human ensembl 74_37 -1 known frame_shift_del c.119 p.L40fs 0.011 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 13 0 0 14 13 48.1481 NOP58 0 genome.wustl.edu 37 2 203165008 203165009 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 203165008 203165009 - A INS NOP58 ENST00000264279 human ensembl 74_37 +1 known frame_shift_ins c.1320_1321 p.R442fs 1.000:1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 128 0 0 56 46 45.098 ZDBF2 0 genome.wustl.edu 37 2 207174428 207174428 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 207174428 207174428 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.5176 p.K1728fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 54 0 0 23 16 41.0256 SLC4A3 0 genome.wustl.edu 37 2 220494118 220494118 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 220494118 220494118 A - DEL SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_del c.470 p.H157fs 0.001 prints_Anion_exchange_3 pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 18 0 0 23 10 30.303 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 240002823 240002823 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2703 p.M902fs 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 49 0 0 13 9 40.9091 ITSN2 0 genome.wustl.edu 37 2 24509095 24509096 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 24509095 24509096 - A INS ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_ins c.1849_1848 p.N616fs 1.000:1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 59 0 0 24 16 40 EMILIN1 0 genome.wustl.edu 37 2 27305627 27305627 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 27305627 27305627 C - DEL EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_del c.1188 p.P398fs 0.250 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 8 0 0 1 2 66.6667 CEBPZ 0 genome.wustl.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 37454908 37454908 T - DEL CEBPZ ENST00000234170 human ensembl 74_37 -1 known frame_shift_del c.1428 p.D477fs 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 51 0 0 72 7 8.86076 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578275 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 42578275 42578275 A - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 18 0 0 4 12 75 SIX3 0 genome.wustl.edu 37 2 45169639 45169640 + Frame_Shift_Del DEL GC GC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 45169639 45169640 GC - DEL SIX3 ENST00000260653 human ensembl 74_37 +1 known frame_shift_del c.396_397 p.A136fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 35 0 0 17 5 22.7273 SOX11 0 genome.wustl.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 5833526 5833528 GAC - DEL SOX11 ENST00000322002 human ensembl 74_37 +1 known in_frame_del c.673_675 p.D228in_frame_del 1.000:1.000:0.999 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 27 0 0 4 2 33.3333 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 64 0 0 36 22 37.931 TET3 0 genome.wustl.edu 37 2 74329152 74329152 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 74329152 74329152 G - DEL TET3 ENST00000409262 human ensembl 74_37 +1 known frame_shift_del c.4832 p.G1613fs 1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 17 0 0 16 6 27.2727 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 19 0 0 11 3 21.4286 PSMF1 0 genome.wustl.edu 37 20 1145691 1145691 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 1145691 1145691 C - DEL PSMF1 ENST00000333082 human ensembl 74_37 +1 known frame_shift_del c.783 p.P263fs 0.957 NULL pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 131 0 0 52 34 39.5349 NDUFAF5 0 genome.wustl.edu 37 20 13789596 13789596 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 13789596 13789596 A - DEL NDUFAF5 ENST00000464269 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFAF5 HGNC ENSG00000101247 38 0 0 16 17 51.5152 RIN2 0 genome.wustl.edu 37 20 19956393 19956394 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 19956393 19956394 - C INS RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_ins c.1871_1872 p.I627fs 1.000:0.882 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 17 0 0 12 5 29.4118 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 116 0 0 47 23 32.8571 CENPB 0 genome.wustl.edu 37 20 3766686 3766686 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 3766686 3766686 G - DEL CENPB ENST00000379751 human ensembl 74_37 -1 known frame_shift_del c.445 p.R149fs 0.732 NULL pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 9 0 0 7 2 22.2222 ATP9A 0 genome.wustl.edu 37 20 50312634 50312634 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 50312634 50312634 T - DEL ATP9A ENST00000338821 human ensembl 74_37 -1 known frame_shift_del c.545 p.N182fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 77 0 0 35 21 37.5 MIR296 0 genome.wustl.edu 37 20 57392725 57392726 + RNA INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 57392725 57392726 - G INS MIR296 ENST00000385215 human ensembl 74_37 -1 known rna NULL NULL 0.991:0.994 - - - no_errors MIR296 HGNC ENSG00000268649 42 0 0 23 9 28.125 GNAS 0 genome.wustl.edu 37 20 57415732 57415732 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 57415732 57415732 G - DEL GNAS ENST00000313949 human ensembl 74_37 +1 known frame_shift_del c.571 p.E192fs 0.910 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 16 0 0 15 7 31.8182 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 95 0 0 50 21 29.5775 DIDO1 0 genome.wustl.edu 37 20 61511207 61511207 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 20 61511207 61511207 G - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.6101 p.P2034fs 0.795 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 59 0 0 37 28 43.0769 ERG 0 genome.wustl.edu 37 21 39772564 39772564 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 39772564 39772564 C - DEL ERG ENST00000398919 human ensembl 74_37 -1 known frame_shift_del c.698 p.G233fs 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 82 0 0 49 29 37.1795 BRWD1 0 genome.wustl.edu 37 21 40570895 40570896 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 40570895 40570896 - T INS BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_ins c.5447_5446 p.T1816fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 150 0 0 102 62 37.8049 KRTAP10-9 0 genome.wustl.edu 37 21 46047173 46047173 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 46047173 46047173 C - DEL KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known frame_shift_del c.85 p.C31fs 0.998 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 78 0 0 54 28 34.1463 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191156 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 46191156 46191156 A - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors UBE2G2 HGNC ENSG00000184787 11 0 0 13 7 35 DIP2A 0 genome.wustl.edu 37 21 47924285 47924286 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 21 47924285 47924286 - C INS DIP2A ENST00000318711 human ensembl 74_37 +1 known frame_shift_ins c.670_671 p.P226fs 0.998:1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 34 0 0 12 9 42.8571 MED15 0 genome.wustl.edu 37 22 20936976 20936976 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 20936976 20936976 C - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known frame_shift_del c.1351 p.Q453fs 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 15 0 0 13 9 40.9091 MN1 0 genome.wustl.edu 37 22 28193255 28193255 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 28193255 28193255 C - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.3277 p.E1093fs 0.434 NULL NULL - no_errors MN1 HGNC ENSG00000169184 19 0 0 10 6 37.5 SMTN 0 genome.wustl.edu 37 22 31487799 31487799 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 31487799 31487799 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.1598 p.S536fs 0.994 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 13 0 0 7 4 36.3636 KIAA0930 0 genome.wustl.edu 37 22 45595893 45595893 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 45595893 45595893 G - DEL KIAA0930 ENST00000251993 human ensembl 74_37 -1 known frame_shift_del c.891 p.T298fs 0.502 NULL pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 71 0 0 37 14 27.451 BRD1 0 genome.wustl.edu 37 22 50169305 50169306 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 50169305 50169306 - C INS BRD1 ENST00000216267 human ensembl 74_37 -1 known frame_shift_ins c.2927_2926 p.E976fs 1.000:1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 241 0 0 97 67 40.8537 BRD1 0 genome.wustl.edu 37 22 50192336 50192337 + Splice_Site INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 50192336 50192337 - G INS BRD1 ENST00000216267 human ensembl 74_37 -1 known splice_site_ins c.1657-3_1657-2 e4-2 1.000:0.993 - - - no_errors BRD1 HGNC ENSG00000100425 9 0 0 12 5 29.4118 SHANK3 0 genome.wustl.edu 37 22 51159933 51159933 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 22 51159933 51159933 G - DEL SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_del c.3720 p.A1243fs 0.979 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 9 0 0 4 2 33.3333 SENP7 0 genome.wustl.edu 37 3 101070484 101070484 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 101070484 101070484 T - DEL SENP7 ENST00000394095 human ensembl 74_37 -1 known frame_shift_del c.1635 p.K545fs 0.977 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 16 0 0 27 7 20.5882 ALCAM 0 genome.wustl.edu 37 3 105260570 105260570 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 105260570 105260570 A - DEL ALCAM ENST00000306107 human ensembl 74_37 +1 known frame_shift_del c.952 p.S320fs 0.987 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 73 0 0 104 11 9.56522 TRAT1 0 genome.wustl.edu 37 3 108541651 108541651 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 108541651 108541651 T - DEL TRAT1 ENST00000493604 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRAT1 HGNC ENSG00000163519 32 0 0 27 17 38.6364 SLC6A11 0 genome.wustl.edu 37 3 10861469 10861469 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 10861469 10861469 T - DEL SLC6A11 ENST00000254488 human ensembl 74_37 +1 known frame_shift_del c.464 p.Y157fs 1.000 pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 143 0 0 89 54 37.7622 SLC9C1 0 genome.wustl.edu 37 3 112005610 112005610 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 112005610 112005610 A - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.29 p.F10fs 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 47 0 0 33 3 8.33333 CCDC80 0 genome.wustl.edu 37 3 112357095 112357095 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 112357095 112357095 T - DEL CCDC80 ENST00000206423 human ensembl 74_37 -1 known frame_shift_del c.1658 p.K553fs 0.979 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 34 0 0 23 16 41.0256 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 57 0 0 48 21 30.4348 PARP14 0 genome.wustl.edu 37 3 122433232 122433232 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 122433232 122433232 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.3956 p.N1322fs 0.974 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 64 0 0 43 14 24.5614 MYLK 0 genome.wustl.edu 37 3 123457859 123457860 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 123457859 123457860 - C INS MYLK ENST00000360304 human ensembl 74_37 -1 known frame_shift_ins c.473_472 p.E158fs 1.000:1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 29 0 0 12 18 60 KALRN 0 genome.wustl.edu 37 3 124174076 124174076 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 124174076 124174076 A - DEL KALRN ENST00000360013 human ensembl 74_37 +1 known frame_shift_del c.3599 p.G1202fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 112 0 0 74 36 32.7273 UMPS 0 genome.wustl.edu 37 3 124457070 124457071 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 124457070 124457071 - A INS UMPS ENST00000232607 human ensembl 74_37 +1 known frame_shift_ins c.966_967 p.Q324fs 0.989:1.000 pfam_OMPdeCOase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase pfam_OMPdeCOase_dom,pfam_PRibTrfase_dom,superfamily_RibuloseP-bd_barrel,smart_OMPdeCOase_dom,tigrfam_OMPdecase,tigrfam_Or_phspho_trans_dom - no_errors UMPS HGNC ENSG00000114491 46 0 0 45 26 36.6197 RAB7A 0 genome.wustl.edu 37 3 128516847 128516848 + Frame_Shift_Ins INS - - CC TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 128516847 128516848 - CC INS RAB7A ENST00000265062 human ensembl 74_37 +1 known frame_shift_ins c.115_116 p.T40fs 1.000:1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7A HGNC ENSG00000075785 114 0 0 54 35 39.3258 MRPL3 0 genome.wustl.edu 37 3 131181654 131181654 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 131181654 131181654 A - DEL MRPL3 ENST00000264995 human ensembl 74_37 -1 known frame_shift_del c.960 p.P321fs 1.000 superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel,tigrfam_Ribosomal_L3_bac/org-type - no_errors MRPL3 HGNC ENSG00000114686 107 0 0 97 6 5.82524 NPHP3 0 genome.wustl.edu 37 3 132424628 132424630 + In_Frame_Del DEL CTT CTT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 132424628 132424630 CTT - DEL NPHP3 ENST00000337331 human ensembl 74_37 -1 known in_frame_del c.1306_1304 p.E435in_frame_del 1.000:0.992:1.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 116 0 0 41 24 36.9231 SLC35G2 0 genome.wustl.edu 37 3 136573485 136573486 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 136573485 136573486 - A INS SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_ins c.183_184 p.G64fs 0.996:1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 150 0 0 99 27 21.4286 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 99 0 0 24 44 64.7059 ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184165 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 142184164 142184165 AA - DEL ENSG00000244327 ENST00000460977 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244327 18 0 0 15 12 44.4444 METTL6 0 genome.wustl.edu 37 3 15455535 15455535 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 15455535 15455535 A - DEL METTL6 ENST00000383790 human ensembl 74_37 -1 known frame_shift_del c.666 p.F222fs 0.912 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase - no_errors METTL6 HGNC ENSG00000206562 59 0 0 49 30 37.9747 C3orf33 0 genome.wustl.edu 37 3 155481462 155481463 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 155481462 155481463 - A INS C3orf33 ENST00000340171 human ensembl 74_37 -1 known frame_shift_ins c.729_728 p.L243fs 0.000:0.001 NULL superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 65 0 0 33 11 25 ANKRD28 0 genome.wustl.edu 37 3 15717504 15717504 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 15717504 15717504 A - DEL ANKRD28 ENST00000498713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD28 HGNC ENSG00000206560 49 0 0 22 7 24.1379 MECOM 0 genome.wustl.edu 37 3 168833604 168833605 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 168833604 168833605 - T INS MECOM ENST00000494292 human ensembl 74_37 -1 known frame_shift_ins c.2056_2055 p.V685fs 1.000:1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 119 0 0 27 45 62.5 PRKCI 0 genome.wustl.edu 37 3 169998127 169998128 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 169998127 169998128 - A INS PRKCI ENST00000295797 human ensembl 74_37 +1 known frame_shift_ins c.818_819 p.T276fs 1.000:0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 45 0 0 54 26 32.5 EIF5A2 0 genome.wustl.edu 37 3 170624844 170624844 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 170624844 170624844 T - DEL EIF5A2 ENST00000295822 human ensembl 74_37 -1 known frame_shift_del c.204 p.K68fs 0.994 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A2 HGNC ENSG00000163577 49 0 0 56 24 30 ABCC5 0 genome.wustl.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 183665257 183665257 A - DEL ABCC5 ENST00000334444 human ensembl 74_37 -1 known frame_shift_del c.3269 p.L1090fs 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 27 0 0 21 9 30 SDHAP1 0 genome.wustl.edu 37 3 195709193 195709193 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 195709193 195709193 A - DEL SDHAP1 ENST00000413474 human ensembl 74_37 -1 known rna NULL NULL 0.759 - - - no_errors SDHAP1 HGNC ENSG00000185485 62 0 0 40 17 29.8246 KIAA0226 0 genome.wustl.edu 37 3 197427748 197427748 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 197427748 197427748 G - DEL KIAA0226 ENST00000296343 human ensembl 74_37 -1 known frame_shift_del c.997 p.R333fs 0.980 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 74 0 0 47 22 31.8841 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 224 0 0 91 39 30 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 189 0 0 145 65 30.9524 SETD2 0 genome.wustl.edu 37 3 47103754 47103755 + Frame_Shift_Ins INS - - TC TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 47103754 47103755 - TC INS SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_ins c.6192_6191 p.D2064fs 0.991:1.000 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 397 0 0 177 93 34.4444 SMARCC1 0 genome.wustl.edu 37 3 47677558 47677559 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 47677558 47677559 - T INS SMARCC1 ENST00000254480 human ensembl 74_37 -1 known frame_shift_ins c.2445_2444 p.N815fs 0.004:0.012 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 130 0 0 78 31 28.4404 RBM6 0 genome.wustl.edu 37 3 50095229 50095230 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 50095229 50095230 - A INS RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_ins c.1762_1763 p.Q590fs 0.986:0.998 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 120 0 0 50 41 45.0549 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 56 0 0 32 16 33.3333 CCDC66 0 genome.wustl.edu 37 3 56651196 56651197 + Frame_Shift_Del DEL GA GA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 56651196 56651197 GA - DEL CCDC66 ENST00000394672 human ensembl 74_37 +1 known frame_shift_del c.1900_1901 p.R635fs 0.005:0.004 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 72 0 0 40 21 34.4262 SUCLG2 0 genome.wustl.edu 37 3 67570954 67570955 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 67570954 67570955 - C INS SUCLG2 ENST00000307227 human ensembl 74_37 -1 known frame_shift_ins c.522_521 p.V175fs 0.018:1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 140 0 0 74 31 29.5238 SRGAP3 0 genome.wustl.edu 37 3 9074429 9074430 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 3 9074429 9074430 - G INS SRGAP3 ENST00000383836 human ensembl 74_37 -1 known frame_shift_ins c.1444_1443 p.C481fs 1.000:1.000 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 96 0 0 55 18 24.6575 ZNF518B 0 genome.wustl.edu 37 4 10446552 10446553 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 10446552 10446553 - T INS ZNF518B ENST00000326756 human ensembl 74_37 -1 known frame_shift_ins c.1401_1400 p.N467fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 48 0 0 58 26 30.9524 LARP7 0 genome.wustl.edu 37 4 113567544 113567545 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 113567544 113567545 - A INS LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_ins c.240_241 p.L82fs 1.000:1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 45 0 0 51 19 27.1429 TRAM1L1 0 genome.wustl.edu 37 4 118005517 118005517 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 118005517 118005517 T - DEL TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known frame_shift_del c.1033 p.R345fs 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 238 1 0.41841 104 64 38.0952 INTU 0 genome.wustl.edu 37 4 128564917 128564917 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 128564917 128564917 A - DEL INTU ENST00000335251 human ensembl 74_37 +1 known frame_shift_del c.388 p.N132fs 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 77 0 0 79 47 37.3016 NAA15 0 genome.wustl.edu 37 4 140291445 140291445 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 140291445 140291445 A - DEL NAA15 ENST00000296543 human ensembl 74_37 +1 known frame_shift_del c.1834 p.N614fs 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 19 0 0 16 12 42.8571 MAP9 0 genome.wustl.edu 37 4 156273869 156273869 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 156273869 156273869 T - DEL MAP9 ENST00000311277 human ensembl 74_37 -1 known frame_shift_del c.1700 p.K567fs 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 56 0 0 34 14 29.1667 HAUS3 0 genome.wustl.edu 37 4 2242634 2242634 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 2242634 2242634 T - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known frame_shift_del c.40 p.I14fs 1.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 95 0 0 63 30 32.2581 TBC1D1 0 genome.wustl.edu 37 4 38134766 38134768 + In_Frame_Del DEL AAG AAG - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 38134766 38134768 AAG - DEL TBC1D1 ENST00000261439 human ensembl 74_37 +1 known in_frame_del c.3194_3196 p.E1067in_frame_del 1.000:1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 84 0 0 52 20 27.7778 LIAS 0 genome.wustl.edu 37 4 39462463 39462464 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 39462463 39462464 - A INS LIAS ENST00000261434 human ensembl 74_37 +1 known frame_shift_ins c.99_100 p.E36fs 0.695:0.641 pirsf_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 189 0 0 96 52 35.1351 N4BP2 0 genome.wustl.edu 37 4 40121855 40121855 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 40121855 40121855 A - DEL N4BP2 ENST00000261435 human ensembl 74_37 +1 known frame_shift_del c.2124 p.Y711fs 0.001 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 130 0 0 79 54 40.6015 SPATA18 0 genome.wustl.edu 37 4 52917724 52917724 + RNA DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 52917724 52917724 G - DEL SPATA18 ENST00000506829 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SPATA18 HGNC ENSG00000163071 15 0 0 5 8 61.5385 C4orf6 0 genome.wustl.edu 37 4 5527116 5527116 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 5527116 5527116 T - DEL C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_del c.59 p.F23fs 0.077 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 15 0 0 9 15 62.5 YTHDC1 0 genome.wustl.edu 37 4 69202897 69202911 + In_Frame_Del DEL TCCTCCTCCTCCTCT TCCTCCTCCTCCTCT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 TCCTCCTCCTCCTCT TCCTCCTCCTCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 69202897 69202911 TCCTCCTCCTCCTCT - DEL YTHDC1 ENST00000344157 human ensembl 74_37 -1 known in_frame_del c.731_717 p.EEEEE243in_frame_del 0.978:0.990:0.980:0.987:0.986:0.135:1.000:1.000:1.000:1.000:1.000:0.914:0.915:0.902:0.603 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 34 0 0 28 11 28.2051 UGT2B4 0 genome.wustl.edu 37 4 70360942 70360942 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 70360942 70360942 T - DEL UGT2B4 ENST00000305107 human ensembl 74_37 -1 known frame_shift_del c.638 p.N213fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC ENSG00000156096 75 0 0 35 22 38.5965 CSN1S1 0 genome.wustl.edu 37 4 70810695 70810695 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 70810695 70810695 A - DEL CSN1S1 ENST00000246891 human ensembl 74_37 +1 known frame_shift_del c.530 p.N179fs 0.000 NULL NULL - no_errors CSN1S1 HGNC ENSG00000126545 114 0 0 70 50 41.6667 RUFY3 0 genome.wustl.edu 37 4 71668652 71668652 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 71668652 71668652 T - DEL RUFY3 ENST00000515442 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RUFY3 HGNC ENSG00000018189 40 0 0 34 27 44.2623 PCGF3 0 genome.wustl.edu 37 4 728799 728799 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 728799 728799 C - DEL PCGF3 ENST00000362003 human ensembl 74_37 +1 known frame_shift_del c.189 p.L65fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 37 0 0 18 5 21.7391 ABLIM2 0 genome.wustl.edu 37 4 8089996 8089996 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 8089996 8089996 G - DEL ABLIM2 ENST00000447017 human ensembl 74_37 -1 known frame_shift_del c.354 p.D120fs 0.001 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 22 0 0 16 7 30.4348 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 99 0 0 34 22 39.2857 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 25 0 0 8 14 63.6364 AP3S1 0 genome.wustl.edu 37 5 115238611 115238611 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 115238611 115238611 G - DEL AP3S1 ENST00000316788 human ensembl 74_37 +1 known frame_shift_del c.375 p.G127fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S1 HGNC ENSG00000177879 92 0 0 86 7 7.52688 CSNK1G3 0 genome.wustl.edu 37 5 122926143 122926144 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 122926143 122926144 - T INS CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known frame_shift_ins c.881_882 p.E297fs 1.000:1.000 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_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G3 HGNC ENSG00000151292 81 0 0 49 39 44.3182 TRPC7 0 genome.wustl.edu 37 5 135610472 135610473 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 135610472 135610473 - T INS TRPC7 ENST00000513104 human ensembl 74_37 -1 known frame_shift_ins c.1017_1016 p.N339fs 1.000:1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 14 0 0 10 4 28.5714 MYOT 0 genome.wustl.edu 37 5 137206445 137206448 + Frame_Shift_Del DEL CAAA CAAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 137206445 137206448 CAAA - DEL MYOT ENST00000239926 human ensembl 74_37 +1 known frame_shift_del c.105_108 p.K36fs 1.000:1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 168 0 0 85 54 38.8489 IK 0 genome.wustl.edu 37 5 140027593 140027596 + Splice_Site DEL GTGT GTGT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140027593 140027596 GTGT - DEL IK ENST00000523672 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors IK HGNC ENSG00000113141 52 0 0 48 6 11.1111 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 29 0 0 15 12 44.4444 PCDHB4 0 genome.wustl.edu 37 5 140502487 140502487 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140502487 140502487 A - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.907 p.K305fs 0.078 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 PCDHB4 HGNC ENSG00000081818 211 0 0 128 72 36 PCDHB4 0 genome.wustl.edu 37 5 140502701 140502701 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 140502701 140502701 C - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.1121 p.G375fs 0.995 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 PCDHB4 HGNC ENSG00000081818 157 0 0 100 59 37.1069 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 121 0 0 81 38 31.9328 SPINK7 0 genome.wustl.edu 37 5 147692956 147692956 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 147692956 147692956 A - DEL SPINK7 ENST00000274565 human ensembl 74_37 +1 known frame_shift_del c.81 p.V30fs 0.003 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK7 HGNC ENSG00000145879 113 0 0 62 34 35.4167 FBXO38 0 genome.wustl.edu 37 5 147782052 147782052 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 147782052 147782052 A - DEL FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_del c.568 p.I191fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 73 0 0 51 31 37.8049 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 49 0 0 34 23 40.3509 RNF44 0 genome.wustl.edu 37 5 175957911 175957911 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 175957911 175957911 G - DEL RNF44 ENST00000274811 human ensembl 74_37 -1 known frame_shift_del c.577 p.Q193fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 9 0 0 6 3 33.3333 GRM6 0 genome.wustl.edu 37 5 178418555 178418555 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 178418555 178418555 C - DEL GRM6 ENST00000231188 human ensembl 74_37 -1 known frame_shift_del c.727 p.V243fs 0.986 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 191 0 0 96 39 28.8889 NIPBL 0 genome.wustl.edu 37 5 36985083 36985083 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 36985083 36985083 A - DEL NIPBL ENST00000282516 human ensembl 74_37 +1 known frame_shift_del c.1801 p.K603fs 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 64 0 0 54 24 30.7692 C5orf42 0 genome.wustl.edu 37 5 37167150 37167150 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 37167150 37167150 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.7399 p.R2467fs 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 77 0 0 37 31 45.5882 EGFLAM 0 genome.wustl.edu 37 5 38407192 38407192 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 38407192 38407192 G - DEL EGFLAM ENST00000354891 human ensembl 74_37 +1 known frame_shift_del c.1091 p.G366fs 0.996 smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G - no_errors EGFLAM HGNC ENSG00000164318 71 0 0 46 21 31.3433 MROH2B 0 genome.wustl.edu 37 5 40999839 40999840 + Frame_Shift_Ins INS - - GT TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 40999839 40999840 - GT INS MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_ins c.4525_4524 p.S1508fs 0.999:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 93 0 0 49 12 19.6721 MROH2B 0 genome.wustl.edu 37 5 41000852 41000852 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 41000852 41000852 A - DEL MROH2B ENST00000399564 human ensembl 74_37 -1 known frame_shift_del c.4278 p.F1426fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 12 0 0 12 5 29.4118 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 17 0 0 14 8 36.3636 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 17 0 0 7 3 30 MED10 0 genome.wustl.edu 37 5 6372636 6372636 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 6372636 6372636 C - DEL MED10 ENST00000255764 human ensembl 74_37 -1 known frame_shift_del c.388 p.E130fs 1.000 NULL pfam_Mediator_Med10 - no_errors MED10 HGNC ENSG00000133398 108 0 0 48 22 31.4286 PIK3R1 0 genome.wustl.edu 37 5 67522741 67522741 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 67522741 67522741 A - DEL PIK3R1 ENST00000396611 human ensembl 74_37 +1 known frame_shift_del c.238 p.I82fs 1.000 superfamily_SH3_domain pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 68 0 0 40 28 41.1765 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 69 0 0 49 6 10.9091 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 128 0 0 128 69 35.0254 TMEM167A 0 genome.wustl.edu 37 5 82352893 82352893 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 82352893 82352893 T - DEL TMEM167A ENST00000503892 human ensembl 74_37 -1 known rna NULL NULL 0.293 - - - no_errors TMEM167A HGNC ENSG00000174695 60 0 0 48 23 32.3944 COX7C 0 genome.wustl.edu 37 5 85913794 85913794 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 85913794 85913794 A - DEL COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX7C HGNC ENSG00000127184 34 0 0 2 8 80 FAM174A 0 genome.wustl.edu 37 5 99921979 99921980 + RNA INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 5 99921979 99921980 - G INS FAM174A ENST00000505792 human ensembl 74_37 +1 putative rna NULL NULL 0.004:0.045 - - - no_errors FAM174A HGNC ENSG00000174132 63 0 0 35 14 28.5714 CCNC 0 genome.wustl.edu 37 6 100006296 100006297 + Frame_Shift_Del DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 100006296 100006297 AA - DEL CCNC ENST00000482541 human ensembl 74_37 -1 putative frame_shift_del c.423_422 p.F141fs 0.007:0.028 superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNC HGNC ENSG00000112237 42 0 0 26 16 38.0952 LIN28B 0 genome.wustl.edu 37 6 105474236 105474236 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 105474236 105474236 A - DEL LIN28B ENST00000345080 human ensembl 74_37 +1 known frame_shift_del c.262 p.K89fs 1.000 pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd - no_errors LIN28B HGNC ENSG00000187772 199 0 0 100 60 37.5 TMEM14C 0 genome.wustl.edu 37 6 10731011 10731012 + RNA INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 10731011 10731012 - A INS TMEM14C ENST00000467415 human ensembl 74_37 +1 known rna NULL NULL 0.031:0.000 - - - no_errors TMEM14C HGNC ENSG00000111843 8 0 0 6 8 57.1429 TMEM14C 0 genome.wustl.edu 37 6 10731012 10731012 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 10731012 10731012 A - DEL TMEM14C ENST00000467415 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM14C HGNC ENSG00000111843 8 0 0 12 2 14.2857 REV3L 0 genome.wustl.edu 37 6 111696108 111696108 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 111696108 111696108 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.3450 p.F1150fs 0.996 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 191 0 0 139 67 32.5243 MARCKS 0 genome.wustl.edu 37 6 114181210 114181210 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 114181210 114181210 A - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454 p.K155fs 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 28 0 0 8 14 63.6364 FRK 0 genome.wustl.edu 37 6 116325059 116325059 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 116325059 116325059 T - DEL FRK ENST00000606080 human ensembl 74_37 -1 known frame_shift_del c.447 p.G150fs 0.995 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC ENSG00000111816 36 0 0 44 20 31.25 ADTRP 0 genome.wustl.edu 37 6 11714640 11714641 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 11714640 11714641 AA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 37 0 0 13 15 53.5714 KIAA0408 0 genome.wustl.edu 37 6 127771252 127771252 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 127771252 127771252 T - DEL KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel frame_shift_del c.381 p.K127fs 0.001 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 147 0 0 92 45 32.8467 AKAP7 0 genome.wustl.edu 37 6 131481276 131481276 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 131481276 131481276 A - DEL AKAP7 ENST00000368123 human ensembl 74_37 +1 known frame_shift_del c.163 p.K57fs 0.449 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC ENSG00000118507 67 0 0 41 24 36.9231 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 12 0 0 13 4 23.5294 SLC2A12 0 genome.wustl.edu 37 6 134349584 134349584 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 134349584 134349584 A - DEL SLC2A12 ENST00000275230 human ensembl 74_37 -1 known frame_shift_del c.1379 p.L460fs 0.996 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 89 0 0 62 34 35.4167 SLC2A12 0 genome.wustl.edu 37 6 134350099 134350099 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 134350099 134350099 A - DEL SLC2A12 ENST00000275230 human ensembl 74_37 -1 known frame_shift_del c.864 p.F288fs 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 82 0 0 58 31 34.8315 AHI1 0 genome.wustl.edu 37 6 135784283 135784284 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 135784283 135784284 - T INS AHI1 ENST00000265602 human ensembl 74_37 -1 known frame_shift_ins c.911_910 p.T304fs 0.016:0.034 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 62 0 0 29 18 38.2979 GRM1 0 genome.wustl.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GAC GAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 146755630 146755632 GAC - DEL GRM1 ENST00000282753 human ensembl 74_37 +1 known in_frame_del c.3283_3285 p.D1098in_frame_del 0.969:0.952:0.137 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 149 1 0.666667 89 35 28.2258 NOX3 0 genome.wustl.edu 37 6 155757642 155757643 + Frame_Shift_Ins INS - - AG TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 155757642 155757643 - AG INS NOX3 ENST00000159060 human ensembl 74_37 -1 known frame_shift_ins c.708_707 p.H237fs 0.000:0.000 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 79 0 0 73 32 30.4762 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 73 0 0 31 48 60.7595 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 22 0 0 23 15 39.4737 TRIM27 0 genome.wustl.edu 37 6 28876589 28876590 + Frame_Shift_Ins INS - - ATTTT TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 28876589 28876590 - ATTTT INS TRIM27 ENST00000377199 human ensembl 74_37 -1 known frame_shift_ins c.915_914 p.Q306fs 1.000:1.000 pfscan_B30.2/SPRY 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,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 36 0 0 40 8 16.6667 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 54 0 0 37 25 40.3226 LSM2 0 genome.wustl.edu 37 6 31765430 31765430 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 31765430 31765430 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LSM2 HGNC ENSG00000204392 65 0 0 36 35 49.2958 ATF6B 0 genome.wustl.edu 37 6 32095989 32095989 + RNA DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 32095989 32095989 C - DEL ATF6B ENST00000468502 human ensembl 74_37 -1 known rna NULL NULL 0.565 - - - no_errors ATF6B HGNC ENSG00000213676 25 0 0 25 9 26.4706 PRRT1 0 genome.wustl.edu 37 6 32119644 32119645 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 32119644 32119645 - G INS PRRT1 ENST00000375150 human ensembl 74_37 -1 known frame_shift_ins c.41_40 p.H14fs 0.039:0.079 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 47 0 0 37 17 31.4815 HLA-DPB1 0 genome.wustl.edu 37 6 33048379 33048380 + RNA INS - - GA TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 33048379 33048380 - GA INS HLA-DPB1 ENST00000498038 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors HLA-DPB1 HGNC ENSG00000223865 30 0 0 20 11 35.4839 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 72 0 0 61 22 26.506 PRPF4B 0 genome.wustl.edu 37 6 4031881 4031881 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 4031881 4031881 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.130 p.K46fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 46 0 0 34 22 39.2857 PTCHD4 0 genome.wustl.edu 37 6 47846834 47846835 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 47846834 47846835 - T INS PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_ins c.1746_1745 p.P583fs 1.000:1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 45 0 0 27 19 41.3043 GSTA4 0 genome.wustl.edu 37 6 52843097 52843097 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 52843097 52843097 A - DEL GSTA4 ENST00000477599 human ensembl 74_37 -1 known rna NULL NULL 0.415 - - - no_errors GSTA4 HGNC ENSG00000170899 13 0 0 16 10 38.4615 TTK 0 genome.wustl.edu 37 6 80720630 80720630 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 80720630 80720630 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.569 p.K192fs 0.007 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 137 0 0 71 30 29.703 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 9 0 0 21 3 12.5 MAP3K7 0 genome.wustl.edu 37 6 91226170 91226170 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 6 91226170 91226170 A - DEL MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 45 0 0 37 17 31.4815 MEPCE 0 genome.wustl.edu 37 7 100028067 100028068 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 100028067 100028068 - G INS MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_ins c.426_427 p.G145fs 0.466:0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 16 0 0 28 6 17.6471 RINT1 0 genome.wustl.edu 37 7 105182902 105182902 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 105182902 105182902 A - DEL RINT1 ENST00000257700 human ensembl 74_37 +1 known frame_shift_del c.321 p.N109fs 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 119 0 0 72 66 47.8261 CBLL1 0 genome.wustl.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 107395909 107395909 A - DEL CBLL1 ENST00000440859 human ensembl 74_37 +1 known frame_shift_del c.413 p.K140fs 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 219 0 0 121 92 43.1925 PNPLA8 0 genome.wustl.edu 37 7 108155904 108155907 + Frame_Shift_Del DEL ATAT ATAT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 ATAT ATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 108155904 108155907 ATAT - DEL PNPLA8 ENST00000257694 human ensembl 74_37 -1 known frame_shift_del c.32_29 p.Y10fs 1.000:1.000:1.000:1.000 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 35 0 0 51 15 22.7273 CTTNBP2 0 genome.wustl.edu 37 7 117431318 117431318 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 117431318 117431318 G - DEL CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known frame_shift_del c.1932 p.G645fs 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 80 0 0 41 54 56.8421 MTPN 0 genome.wustl.edu 37 7 135636279 135636280 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 135636279 135636280 - T INS MTPN ENST00000393085 human ensembl 74_37 -1 known frame_shift_ins c.172_171 p.G57fs 1.000:1.000 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 MTPN HGNC ENSG00000105887 74 0 0 31 49 61.25 ENSG00000244701 0 genome.wustl.edu 37 7 141352440 141352440 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 141352440 141352440 T - DEL ENSG00000244701 ENST00000467537 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-894A10.2 Clone_based_vega_gene ENSG00000244701 9 0 0 10 14 58.3333 MGAM 0 genome.wustl.edu 37 7 141736720 141736720 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 141736720 141736720 C - DEL MGAM ENST00000549489 human ensembl 74_37 +1 known frame_shift_del c.2174 p.L726fs 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 303 0 0 144 157 52.1595 NOS3 0 genome.wustl.edu 37 7 150698398 150698398 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 150698398 150698398 G - DEL NOS3 ENST00000297494 human ensembl 74_37 +1 known frame_shift_del c.1313 p.G440fs 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 97 0 0 91 32 26.0163 PAXIP1 0 genome.wustl.edu 37 7 154782740 154782740 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 154782740 154782740 A - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known frame_shift_del c.300 p.F100fs 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 11 0 0 8 2 20 RNF32 0 genome.wustl.edu 37 7 156451256 156451257 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 156451256 156451257 - A INS RNF32 ENST00000317955 human ensembl 74_37 +1 known frame_shift_ins c.676_677 p.F229fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 45 0 0 55 15 21.4286 RAPGEF5 0 genome.wustl.edu 37 7 22197474 22197474 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 22197474 22197474 T - DEL RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known frame_shift_del c.1097 p.K366fs 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 59 0 0 64 20 23.8095 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 47 0 0 15 42 73.6842 EIF3B 0 genome.wustl.edu 37 7 2404086 2404086 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 2404086 2404086 G - DEL EIF3B ENST00000360876 human ensembl 74_37 +1 known frame_shift_del c.1079 p.G362fs 1.000 pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 155 0 0 123 59 32.4176 HNRNPA2B1 0 genome.wustl.edu 37 7 26232884 26232885 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 26232884 26232885 - C INS HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known frame_shift_ins c.987_986 p.P330fs 1.000:1.000 pfam_HnRNPA1 pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 104 0 0 169 15 8.15217 CPVL 0 genome.wustl.edu 37 7 29070262 29070262 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 29070262 29070262 T - DEL CPVL ENST00000265394 human ensembl 74_37 -1 known frame_shift_del c.1251 p.V418fs 0.032 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 253 0 0 188 66 25.9843 POLM 0 genome.wustl.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 44120414 44120414 G - DEL POLM ENST00000242248 human ensembl 74_37 -1 known frame_shift_del c.290 p.P97fs 0.047 superfamily_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 93 0 0 66 88 57.1429 ABCA13 0 genome.wustl.edu 37 7 48314550 48314550 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 48314550 48314550 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.5287 p.N1764fs 0.073 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 98 0 0 70 8 10.2564 RADIL 0 genome.wustl.edu 37 7 4841441 4841442 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 4841441 4841442 - G INS RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_ins c.2685_2684 p.H896fs 0.005:0.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 18 0 0 13 5 27.7778 USP42 0 genome.wustl.edu 37 7 6196576 6196577 + Frame_Shift_Del DEL CT CT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 6196576 6196577 CT - DEL USP42 ENST00000306177 human ensembl 74_37 +1 known frame_shift_del c.3833_3834 p.S1280fs 0.001:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 35 0 0 21 25 54.3478 CRCP 0 genome.wustl.edu 37 7 65599284 65599284 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 65599284 65599284 A - DEL CRCP ENST00000395326 human ensembl 74_37 +1 known frame_shift_del c.162 p.T56fs 0.989 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 140 0 0 127 32 20.1258 NSUN5 0 genome.wustl.edu 37 7 72722449 72722451 + In_Frame_Del DEL CTT CTT - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 72722449 72722451 CTT - DEL NSUN5 ENST00000438747 human ensembl 74_37 -1 known in_frame_del c.195_193 p.K65in_frame_del 1.000:1.000:1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN5 HGNC ENSG00000130305 86 0 0 69 22 24.1758 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512837 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 75512837 75512837 A - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors RHBDD2 HGNC ENSG00000005486 8 0 0 4 6 60 TMEM60 0 genome.wustl.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 77423460 77423460 T - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.231 p.A78fs 0.998 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 78 0 0 126 90 41.6667 PCLO 0 genome.wustl.edu 37 7 82582944 82582944 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 82582944 82582944 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.7325 p.K2442fs 0.984 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 25 0 0 24 6 20 CYP51A1 0 genome.wustl.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 91752494 91752494 T - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_del c.1026 p.K342fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 178 0 0 152 76 33.3333 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 44 0 0 51 19 27.1429 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 37 0 0 56 17 23.2877 CASD1 0 genome.wustl.edu 37 7 94185017 94185017 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 94185017 94185017 T - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.2341 p.C783fs 0.986 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 84 0 0 74 73 49.6599 PON2 0 genome.wustl.edu 37 7 95045560 95045560 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 7 95045560 95045560 A - DEL PON2 ENST00000536183 human ensembl 74_37 -1 known frame_shift_del c.258 p.F86fs 0.867 NULL pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC ENSG00000105854 50 0 0 67 54 44.6281 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 147 0 0 110 58 34.5238 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 38 0 0 39 12 23.5294 RIMS2 0 genome.wustl.edu 37 8 105235897 105235897 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 105235897 105235897 G - DEL RIMS2 ENST00000339750 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 0.013 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RIMS2 HGNC ENSG00000176406 19 0 0 21 6 22.2222 LRP12 0 genome.wustl.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 105509429 105509429 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1294 p.C432fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 124 0 0 157 42 21.1055 LRP12 0 genome.wustl.edu 37 8 105509439 105509440 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 105509439 105509440 - T INS LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_ins c.1284_1283 p.N428fs 1.000:1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 131 0 0 98 108 52.4272 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 60 0 0 65 15 18.75 CSMD3 0 genome.wustl.edu 37 8 113662424 113662425 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 113662424 113662425 - T INS CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_ins c.3159_3158 p.N1053fs 1.000:1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 116 0 0 172 54 23.8938 ENPP2 0 genome.wustl.edu 37 8 120638944 120638944 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 120638944 120638944 G - DEL ENPP2 ENST00000259486 human ensembl 74_37 -1 known frame_shift_del c.153 p.W52fs 0.769 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000136960 70 0 0 83 21 20.1923 MTSS1 0 genome.wustl.edu 37 8 125570136 125570136 + RNA DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 125570136 125570136 G - DEL MTSS1 ENST00000520094 human ensembl 74_37 -1 known rna NULL NULL 0.048 - - - no_errors MTSS1 HGNC ENSG00000170873 11 0 0 8 3 27.2727 PTK2 0 genome.wustl.edu 37 8 141754889 141754891 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 141754889 141754891 AAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors PTK2 HGNC ENSG00000169398 46 0 0 49 10 16.9492 SLC45A4 0 genome.wustl.edu 37 8 142228274 142228274 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 142228274 142228274 C - DEL SLC45A4 ENST00000517878 human ensembl 74_37 -1 known frame_shift_del c.1465 p.E489fs 0.898 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 27 0 0 52 21 28.7671 GRINA 0 genome.wustl.edu 37 8 145065718 145065718 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145065718 145065718 C - DEL GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_del c.327 p.N112fs 0.916 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 13 0 0 19 3 13.6364 ENSG00000204791 0 genome.wustl.edu 37 8 145106390 145106393 + RNA DEL GGGC GGGC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 GGGC GGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145106390 145106393 GGGC - DEL ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.269:0.260:0.161:0.023 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 12 0 0 6 14 70 OPLAH 0 genome.wustl.edu 37 8 145109749 145109749 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 145109749 145109749 C - DEL OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_del c.2477 p.G826fs 1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 65 0 0 47 8 14.5455 ZNF7 0 genome.wustl.edu 37 8 146067177 146067178 + Frame_Shift_Ins INS - - A TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 146067177 146067178 - A INS ZNF7 ENST00000325241 human ensembl 74_37 +1 known frame_shift_ins c.685_686 p.L232fs 0.008:0.004 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 ZNF7 HGNC ENSG00000147789 91 0 0 90 34 27.4194 SFTPC 0 genome.wustl.edu 37 8 22021059 22021060 + Frame_Shift_Ins INS - - GT TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 22021059 22021060 - GT INS SFTPC ENST00000318561 human ensembl 74_37 +1 known frame_shift_ins c.435_436 p.M145fs 1.000:1.000 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 50 0 0 10 7 41.1765 NUGGC 0 genome.wustl.edu 37 8 27880849 27880849 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 27880849 27880849 G - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.2376 p.T794fs 0.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 26 0 0 5 11 68.75 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 27888776 27888776 T - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1892 p.N631fs 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 251 0 0 39 59 60.2041 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 138 0 0 113 48 29.8137 CA2 0 genome.wustl.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 86386635 86386635 T - DEL CA2 ENST00000285379 human ensembl 74_37 +1 known frame_shift_del c.434 p.L147fs 0.362 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 187 0 0 157 46 22.6601 ENSG00000253722 0 genome.wustl.edu 37 8 94745548 94745548 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 94745548 94745548 A - DEL ENSG00000253722 ENST00000517998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-10N23.4 Clone_based_vega_gene ENSG00000253722 14 0 0 8 5 38.4615 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 30 0 0 54 16 22.8571 SNORA72 0 genome.wustl.edu 37 8 99054504 99054504 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 8 99054504 99054504 T - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 23 0 0 23 15 39.4737 ENSG00000254571 0 genome.wustl.edu 37 9 102677512 102677512 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 102677512 102677512 T - DEL ENSG00000254571 ENST00000524512 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-60I3.4 Clone_based_vega_gene ENSG00000254571 66 0 0 75 42 35.8974 C9orf84 0 genome.wustl.edu 37 9 114449052 114449052 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 114449052 114449052 A - DEL C9orf84 ENST00000318737 human ensembl 74_37 -1 known frame_shift_del c.4333 p.*1445fs 1.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 90 0 0 87 15 14.7059 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP37 HGNC ENSG00000136866 89 0 0 59 42 41.5842 POLE3 0 genome.wustl.edu 37 9 116171195 116171195 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 116171195 116171195 T - DEL POLE3 ENST00000374169 human ensembl 74_37 -1 known frame_shift_del c.340 p.T114fs 0.429 superfamily_Histone-fold pfam_CBFA_NFYB_domain,superfamily_Histone-fold - no_errors POLE3 HGNC ENSG00000148229 18 0 0 14 13 48.1481 DAB2IP 0 genome.wustl.edu 37 9 124536636 124536637 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 124536636 124536637 - C INS DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_ins c.3065_3066 p.H1025fs 1.000:0.988 pfam_DUF3498 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 57 0 0 11 12 52.1739 LHX6 0 genome.wustl.edu 37 9 124971944 124971944 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 124971944 124971944 G - DEL LHX6 ENST00000394319 human ensembl 74_37 -1 known frame_shift_del c.1107 p.V370fs 0.786 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX6 HGNC ENSG00000106852 60 0 0 34 10 22.7273 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827754 + Frame_Shift_Del DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 125827753 125827754 AA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717_1718 p.K576fs 0.000:0.000 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 60 0 0 26 12 31.5789 TYRP1 0 genome.wustl.edu 37 9 12708067 12708068 + Frame_Shift_Ins INS - - C TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 12708067 12708068 - C INS TYRP1 ENST00000388918 human ensembl 74_37 +1 known frame_shift_ins c.1332_1333 p.V446fs 1.000:1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 33 0 0 33 17 34 LRSAM1 0 genome.wustl.edu 37 9 130236099 130236099 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 130236099 130236099 C - DEL LRSAM1 ENST00000300417 human ensembl 74_37 +1 known frame_shift_del c.639 p.P215fs 0.999 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 96 0 0 56 32 36.3636 C9orf117 0 genome.wustl.edu 37 9 130476084 130476084 + RNA DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 130476084 130476084 C - DEL C9orf117 ENST00000496009 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors C9orf117 HGNC ENSG00000160401 107 0 0 30 28 48.2759 MPDZ 0 genome.wustl.edu 37 9 13125277 13125277 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 13125277 13125277 T - DEL MPDZ ENST00000319217 human ensembl 74_37 -1 known frame_shift_del c.4745 p.K1582fs 0.029 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 138 0 0 51 33 39.2857 CRAT 0 genome.wustl.edu 37 9 131857690 131857690 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 131857690 131857690 G - DEL CRAT ENST00000318080 human ensembl 74_37 -1 known frame_shift_del c.1867 p.R623fs 0.020 NULL pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 74 0 0 29 3 9.375 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 77 0 0 56 29 34.1176 SNAPC4 0 genome.wustl.edu 37 9 139272220 139272220 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 139272220 139272220 C - DEL SNAPC4 ENST00000298532 human ensembl 74_37 -1 known frame_shift_del c.4059 p.Q1354fs 0.003 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 28 0 0 17 8 32 SNAPC4 0 genome.wustl.edu 37 9 139272275 139272275 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 139272275 139272275 C - DEL SNAPC4 ENST00000298532 human ensembl 74_37 -1 known frame_shift_del c.4004 p.G1335fs 0.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 30 0 0 17 9 34.6154 TPRN 0 genome.wustl.edu 37 9 140087024 140087025 + In_Frame_Ins INS - - TCC TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 140087024 140087025 - TCC INS TPRN ENST00000409012 human ensembl 74_37 -1 known in_frame_ins c.1845_1844 p.619in_frame_insE 0.658:0.745 NULL NULL - no_errors TPRN HGNC ENSG00000176058 28 0 0 17 3 15 TUBB4B 0 genome.wustl.edu 37 9 140137090 140137091 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 140137090 140137091 - G INS TUBB4B ENST00000340384 human ensembl 74_37 +1 known frame_shift_ins c.420_421 p.T142fs 0.772:1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 67 0 0 50 25 33.3333 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 70 0 0 29 28 49.1228 TAF1L 0 genome.wustl.edu 37 9 32633025 32633025 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 32633025 32633025 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2553 p.A852fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 187 0 0 110 54 32.9268 PTENP1 0 genome.wustl.edu 37 9 33675365 33675365 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 33675365 33675365 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PTENP1 HGNC ENSG00000237984 17 0 0 25 13 34.2105 PTENP1 0 genome.wustl.edu 37 9 33675428 33675428 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 33675428 33675428 A - DEL PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors PTENP1 HGNC ENSG00000237984 63 0 0 63 17 21.25 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 506 2 0.393701 245 135 35.5263 MAMDC2-AS1 0 genome.wustl.edu 37 9 72785676 72785677 + RNA DEL AC AC - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 72785676 72785677 AC - DEL MAMDC2-AS1 ENST00000448377 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors MAMDC2-AS1 HGNC ENSG00000204706 8 0 0 2 2 50 VPS13A 0 genome.wustl.edu 37 9 79999547 79999548 + In_Frame_Ins INS - - TGA TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 79999547 79999548 - TGA INS VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_ins c.9236_9237 p.3083in_frame_insD 1.000:0.999 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 74 0 0 57 13 18.5714 ENSG00000229454 0 genome.wustl.edu 37 9 88370966 88370966 + RNA DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 88370966 88370966 T - DEL ENSG00000229454 ENST00000447148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-202I11.2 Clone_based_vega_gene ENSG00000229454 25 0 0 13 8 38.0952 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 19 0 0 15 6 28.5714 PTPDC1 0 genome.wustl.edu 37 9 96864016 96864017 + Frame_Shift_Ins INS - - T TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 9 96864016 96864017 - T INS PTPDC1 ENST00000375360 human ensembl 74_37 +1 known frame_shift_ins c.2020_2021 p.L676fs 0.894:0.898 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 101 0 0 48 33 40.7407 TEX13A 0 genome.wustl.edu 37 X 104463832 104463832 + Frame_Shift_Del DEL C C - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 104463832 104463832 C - DEL TEX13A ENST00000413579 human ensembl 74_37 -1 known frame_shift_del c.1044 p.H350fs 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 64 0 0 19 29 60.4167 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 16 0 0 1 4 80 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 31 0 0 30 12 28.5714 MAGEC3 0 genome.wustl.edu 37 X 140983317 140983317 + Frame_Shift_Del DEL G G - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 140983317 140983317 G - DEL MAGEC3 ENST00000298296 human ensembl 74_37 +1 known frame_shift_del c.1095 p.A366fs 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 22 0 0 7 18 72 PLXNA3 0 genome.wustl.edu 37 X 153688564 153688565 + Frame_Shift_Ins INS - - G TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 153688564 153688565 - G INS PLXNA3 ENST00000369682 human ensembl 74_37 +1 known frame_shift_ins c.41_42 p.A17fs 0.001:0.006 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 35 0 0 15 24 61.5385 GAB3 0 genome.wustl.edu 37 X 153906378 153906380 + RNA DEL AAA AAA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 153906378 153906380 AAA - DEL GAB3 ENST00000496390 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.007:0.009 - - - no_errors GAB3 HGNC ENSG00000160219 49 0 0 26 7 21.2121 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 22 0 0 4 14 77.7778 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 23 0 0 5 4 44.4444 TGIF2LX 0 genome.wustl.edu 37 X 89177131 89177131 + Frame_Shift_Del DEL A A - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 X 89177131 89177131 A - DEL TGIF2LX ENST00000283891 human ensembl 74_37 +1 known frame_shift_del c.47 p.D18fs 0.014 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 81 0 0 51 3 5.55556 USP9Y 0 genome.wustl.edu 37 Y 14968773 14968774 + RNA DEL AA AA - TCGA-F1-6177-01A-11D-1800-08 TCGA-F1-6177-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d0617e8-2725-4411-b50f-e46ea1d43242 d45b2ed4-f736-470e-92c0-b06718a57582 Y 14968773 14968774 AA - DEL USP9Y ENST00000471409 human ensembl 74_37 +1 known rna NULL NULL 0.995:0.996 - - - no_errors USP9Y HGNC ENSG00000114374 9 0 0 5 10 66.6667