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 ACAN 0 genome.wustl.edu 37 15 89384998 89384998 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 89384998 89384998 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.657 p.G219 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link 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 tier1 - - 84 0 0.00 60 8 11.76 ACTL7A 0 genome.wustl.edu 37 9 111624939 111624939 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 9 111624939 111624939 C T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 tier1 - - 31 0 0.00 24 8 25.00 ADAMTS9 0 genome.wustl.edu 37 3 64601737 64601737 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 64601737 64601737 C A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.2923 p.V975F 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 295 0 0.00 229 29 11.15 AGAP3 0 genome.wustl.edu 37 7 150817217 150817218 + Frame_Shift_Ins INS - - T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 150817217 150817218 - T INS AGAP3 ENST00000397238 human ensembl 74_37 +1 known frame_shift_ins c.1113_1114 p.S371fs 1.000:1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 tier1 32 0 0.00 33 2 5.71 AKAP13 0 genome.wustl.edu 37 15 86077163 86077163 + Frame_Shift_Del DEL T T - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 86077163 86077163 T - DEL AKAP13 ENST00000560302 human ensembl 74_37 +1 known frame_shift_del c.530 p.*180fs 0.002 NULL NULL - no_errors AKAP13 HGNC ENSG00000170776 tier1 17 0 0.00 14 2 12.50 AKAP9 0 genome.wustl.edu 37 7 91735033 91735033 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 91735033 91735033 C T SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.11384 p.S3795F 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 102 0 0.00 167 18 9.68 ANKLE2 0 genome.wustl.edu 37 12 133324764 133324764 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 133324764 133324764 C T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1001 p.R334Q 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 25 0 0.00 22 3 12.00 ARHGEF11 0 genome.wustl.edu 37 1 156913741 156913741 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 156913741 156913741 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.3221 p.R1074H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 39 0 0.00 36 3 7.69 ARHGEF17 0 genome.wustl.edu 37 11 73022572 73022572 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 73022572 73022572 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known silent c.2889 p.P963 0.018 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 65 0 0.00 49 9 15.52 ARHGEF7 0 genome.wustl.edu 37 13 111928031 111928031 + RNA SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 13 111928031 111928031 G T SNP ARHGEF7 ENST00000483189 human ensembl 74_37 +1 known rna NULL NULL 0.120 - - - no_errors ARHGEF7 HGNC ENSG00000102606 tier1 - - 74 0 0.00 93 5 5.05 ASXL1 0 genome.wustl.edu 37 20 31019282 31019282 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 31019282 31019282 A G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.877 p.R293G 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 63 0 0.00 69 28 28.87 ATP13A1 0 genome.wustl.edu 37 19 19766965 19766965 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 19766965 19766965 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1111 p.R371W 0.018 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V 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_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 tier1 - - 71 0 0.00 50 6 10.71 AZI1 0 genome.wustl.edu 37 17 79176070 79176070 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 79176070 79176070 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.758 p.R253Q 0.850 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 31 0 0.00 33 6 15.38 BAI3 0 genome.wustl.edu 37 6 70071194 70071194 + Nonsense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 70071194 70071194 C G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known nonsense c.4029 p.Y1343* 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 68 0 0.00 69 6 8.00 BRINP3 0 genome.wustl.edu 37 1 190068069 190068069 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 190068069 190068069 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1380 p.C460 0.927 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 67 0 0.00 56 12 17.65 C1orf173 0 genome.wustl.edu 37 1 75097422 75097422 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 75097422 75097422 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.794 p.N265S 0.483 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 100 0 0.00 92 10 9.80 C20orf196 0 genome.wustl.edu 37 20 5843810 5843810 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 5843810 5843810 G T SNP C20orf196 ENST00000303142 human ensembl 74_37 +1 known missense c.319 p.G107C 0.101 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 tier1 - - 43 0 0.00 43 23 34.33 C20orf26 0 genome.wustl.edu 37 20 20258081 20258081 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 20258081 20258081 G T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.2775 p.K925N 0.998 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 63 0 0.00 91 10 9.90 CACNA2D4 0 genome.wustl.edu 37 12 1983839 1983839 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 1983839 1983839 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.1809 p.L603 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 tier1 - - 25 0 0.00 22 4 15.38 CALD1 0 genome.wustl.edu 37 7 134552500 134552500 + Missense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 134552500 134552500 C G SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.16 p.R6G 1.000 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 40 0 0.00 26 4 13.33 CAMK2B 0 genome.wustl.edu 37 7 44266227 44266227 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 44266227 44266227 G T SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known missense c.1485 p.D495E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2B HGNC ENSG00000058404 tier1 - - 49 0 0.00 36 6 14.29 CCR3 0 genome.wustl.edu 37 3 46307308 46307308 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 46307308 46307308 C A SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.722 p.T241K 0.019 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_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 tier1 - - 77 0 0.00 61 6 8.82 CDH9 0 genome.wustl.edu 37 5 26885777 26885777 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 26885777 26885777 C T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1828 p.G610S 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 21 0 0.00 13 5 27.78 CHERP 0 genome.wustl.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 16640581 16640583 TGC - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known in_frame_del c.1007_1005 p.Q339in_frame_del 1.000:1.000:1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 tier1 25 0 0.00 16 3 15.79 CHST5 0 genome.wustl.edu 37 16 75563386 75563386 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 16 75563386 75563386 C T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.915 p.A305 0.954 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 78 0 0.00 72 4 5.26 CLSTN3 0 genome.wustl.edu 37 12 7310163 7310163 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 7310163 7310163 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.2606 p.R869H 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 tier1 - - 25 0 0.00 15 5 25.00 COL1A2 0 genome.wustl.edu 37 7 94054924 94054924 + Silent SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 94054924 94054924 C A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.2784 p.G928 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 41 0 0.00 54 7 11.48 COL6A2 0 genome.wustl.edu 37 21 47549137 47549137 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 21 47549137 47549137 C T SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known missense c.2489 p.P830L 0.973 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 130 0 0.00 67 7 9.46 CYLC1 0 genome.wustl.edu 37 X 83128290 83128290 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 83128290 83128290 T C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.574 p.S192P 0.003 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 34 0 0.00 15 8 34.78 DCHS1 0 genome.wustl.edu 37 11 6661710 6661710 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 6661710 6661710 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.1135 p.A379T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 44 0 0.00 38 9 19.15 DCSTAMP 0 genome.wustl.edu 37 8 105361033 105361033 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 8 105361033 105361033 G T SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.253 p.V85F 0.369 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 tier1 - - 56 0 0.00 60 12 16.67 DLGAP4 0 genome.wustl.edu 37 20 35064592 35064592 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 35064592 35064592 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.1080 p.P360 0.969 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 11 0 0.00 15 5 25.00 DNAH1 0 genome.wustl.edu 37 3 52396411 52396411 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 52396411 52396411 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.4988 p.R1663H 0.975 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 tier1 - - 21 0 0.00 19 4 17.39 DNAH10 0 genome.wustl.edu 37 12 124330581 124330581 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 124330581 124330581 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5340 p.P1780 0.000 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 tier1 - - 109 0 0.00 97 11 10.19 DNAH9 0 genome.wustl.edu 37 17 11593498 11593498 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 11593498 11593498 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.4359 p.P1453 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 36 0 0.00 34 5 12.82 DNAJB4 0 genome.wustl.edu 37 1 78481799 78481799 + Silent SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 78481799 78481799 T C SNP DNAJB4 ENST00000370763 human ensembl 74_37 +1 known silent c.882 p.I294 0.997 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 DNAJB4 HGNC ENSG00000162616 tier1 - - 71 0 0.00 76 14 15.56 DSG3 0 genome.wustl.edu 37 18 29052295 29052295 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 29052295 29052295 G A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.1946 p.G649E 0.015 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 tier1 - - 115 0 0.00 95 9 8.65 EHMT1 0 genome.wustl.edu 37 9 140648711 140648711 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 9 140648711 140648711 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.1337 p.R446Q 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 79 0 0.00 62 18 22.50 EIF5AL1 0 genome.wustl.edu 37 10 81272564 81272564 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 81272564 81272564 C T SNP EIF5AL1 ENST00000520547 human ensembl 74_37 +1 known silent c.159 p.H53 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 tier1 - - 42 0 0.00 41 6 12.77 EMILIN2 0 genome.wustl.edu 37 18 2891182 2891182 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 2891182 2891182 C A SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.1057 p.Q353K 1.000 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 75 0 0.00 56 11 16.42 ENSG00000225794 0 genome.wustl.edu 37 2 217475598 217475598 + RNA SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 217475598 217475598 C T SNP ENSG00000225794 ENST00000441803 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors AC073321.4 Clone_based_vega_gene ENSG00000225794 tier1 - - 19 0 0.00 17 5 22.73 ENSG00000256616 0 genome.wustl.edu 37 18 12075455 12075455 + RNA SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 12075455 12075455 C T SNP ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 - - 78 0 0.00 75 10 11.76 ENSG00000267882 0 genome.wustl.edu 37 20 45947740 45947740 + Missense_Mutation SNP G G C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 45947740 45947740 G C SNP ENSG00000267882 ENST00000599904 human ensembl 74_37 +1 known missense c.376 p.V126L 0.003 NULL NULL - no_errors AL031666.2 Clone_based_ensembl_gene ENSG00000267882 tier1 - - 30 0 0.00 27 8 22.86 ENTPD4 0 genome.wustl.edu 37 8 23301975 23301975 + Missense_Mutation SNP G G C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 8 23301975 23301975 G C SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.557 p.P186R 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 tier1 - - 60 0 0.00 64 11 14.67 EPHA3 0 genome.wustl.edu 37 3 89259427 89259427 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 89259427 89259427 G T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.571 p.A191S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA3 HGNC ENSG00000044524 tier1 - - 137 0 0.00 96 10 9.43 EPHX4 0 genome.wustl.edu 37 1 92518119 92518119 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 92518119 92518119 G A SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known missense c.761 p.C254Y 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 tier1 - - 60 0 0.00 52 12 18.75 ESPL1 0 genome.wustl.edu 37 12 53680505 53680505 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 53680505 53680505 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3985 p.R1329C 0.000 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 30 0 0.00 17 6 26.09 ETFDH 0 genome.wustl.edu 37 4 159627964 159627964 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 4 159627964 159627964 C T SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known missense c.1652 p.S551L 0.984 pfam_ETFD_OxRdtase pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 tier1 - - 179 0 0.00 123 33 21.15 EXO1 0 genome.wustl.edu 37 1 242020685 242020685 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 242020685 242020685 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known silent c.444 p.P148 0.001 pfam_XPG-I_dom,smart_XPG-I_dom,prints_XPG/Rad2 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 tier1 - - 158 0 0.00 149 8 5.10 FAM107B 0 genome.wustl.edu 37 10 14563302 14563302 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 14563302 14563302 C T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.808 p.E270K 1.000 pfam_DUF1151 pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 113 0 0.00 92 20 17.86 FAM170A 0 genome.wustl.edu 37 5 118968553 118968553 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 118968553 118968553 G A SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.181 p.V61I 0.878 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 tier1 - - 65 0 0.00 58 13 18.31 FAM47B 0 genome.wustl.edu 37 X 34961580 34961580 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 34961580 34961580 G A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.632 p.R211H 0.271 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 tier1 - - 36 0 0.00 30 10 24.39 FANCA 0 genome.wustl.edu 37 16 89869665 89869665 + Splice_Site SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 16 89869665 89869665 A G SNP FANCA ENST00000389301 human ensembl 74_37 -1 known splice_site c.792+2 e8+2 0.998 - - - no_errors FANCA HGNC ENSG00000187741 tier1 - - 117 0 0.00 108 26 19.26 FLT1 0 genome.wustl.edu 37 13 28908168 28908168 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 13 28908168 28908168 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2587 p.L863M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 177 0 0.00 152 16 9.47 GAB3 0 genome.wustl.edu 37 X 153941631 153941631 + Silent SNP G G C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 153941631 153941631 G C SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.447 p.T149 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 tier1 - - 50 0 0.00 23 15 39.47 GET4 0 genome.wustl.edu 37 7 931994 931994 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 931994 931994 G A SNP GET4 ENST00000265857 human ensembl 74_37 +1 known missense c.685 p.G229R 1.000 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 tier1 - - 58 0 0.00 49 8 14.04 GLI3 0 genome.wustl.edu 37 7 42011986 42011986 + Nonsense_Mutation SNP T T A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 42011986 42011986 T A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known nonsense c.2053 p.K685* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 tier1 - - 128 0 0.00 135 12 8.16 GNAS 0 genome.wustl.edu 37 20 57415193 57415193 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 57415193 57415193 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.32 p.R11H 1.000 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 tier1 - - 28 0 0.00 24 5 17.24 GPR156 0 genome.wustl.edu 37 3 119886525 119886525 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 119886525 119886525 C T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1799 p.R600K 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 41 0 0.00 23 8 25.81 GPR37 0 genome.wustl.edu 37 7 124404490 124404490 + Missense_Mutation SNP A A T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 124404490 124404490 A T SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.541 p.Y181N 0.998 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 111 0 0.00 99 10 9.17 GREB1 0 genome.wustl.edu 37 2 11758784 11758784 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 11758784 11758784 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.3783 p.L1261 0.998 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 15 0 0.00 7 4 36.36 GREB1 0 genome.wustl.edu 37 2 11761033 11761033 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 11761033 11761033 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4047 p.I1349 0.847 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 65 0 0.00 76 13 14.61 GRM7 0 genome.wustl.edu 37 3 7456777 7456777 + Nonsense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 7456777 7456777 C A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known nonsense c.1101 p.Y367* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I 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_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 73 0 0.00 55 9 14.06 GUCA2B 0 genome.wustl.edu 37 1 42620456 42620456 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 42620456 42620456 G A SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known missense c.196 p.V66M 0.000 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 tier1 - - 27 0 0.00 25 5 16.67 GUK1 0 genome.wustl.edu 37 1 228335194 228335194 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 228335194 228335194 C T SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known silent c.339 p.T113 0.004 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 tier1 - - 128 0 0.00 98 20 16.95 HEBP2 0 genome.wustl.edu 37 6 138734047 138734047 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 138734047 138734047 G A SNP HEBP2 ENST00000448741 human ensembl 74_37 +1 putative missense c.365 p.R122K 1.000 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 tier1 - - 125 0 0.00 91 13 12.50 HEG1 0 genome.wustl.edu 37 3 124732420 124732422 + In_Frame_Del DEL GAG GAG - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 124732420 124732422 GAG - DEL HEG1 ENST00000311127 human ensembl 74_37 -1 known in_frame_del c.2003_2001 p.S671in_frame_del 0.038:0.039:0.035 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 14 0 0.00 4 2 33.33 HEPH 0 genome.wustl.edu 37 X 65474920 65474920 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 65474920 65474920 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.2769 p.G923 0.998 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 21 0 0.00 47 11 18.97 HHIPL2 0 genome.wustl.edu 37 1 222712032 222712032 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 222712032 222712032 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.1535 p.P512L 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 - - 96 0 0.00 75 5 6.25 HNRNPM 0 genome.wustl.edu 37 19 8551129 8551129 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 8551129 8551129 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1817 p.R606H 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 tier1 - - 43 0 0.00 33 8 19.05 HRH2 0 genome.wustl.edu 37 5 175111232 175111232 + Silent SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 175111232 175111232 C A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known silent c.996 p.P332 0.000 prints_Histamine_H2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 tier1 - - 101 0 0.00 47 17 26.15 HTR7 0 genome.wustl.edu 37 10 92617104 92617104 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 92617104 92617104 C T SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.325 p.V109I 1.000 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_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 53 0 0.00 54 7 11.48 JARID2 0 genome.wustl.edu 37 6 15452316 15452316 + Missense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 15452316 15452316 C G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.403 p.P135A 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 92 0 0.00 82 7 7.87 KCNH1 0 genome.wustl.edu 37 1 210857198 210857198 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 210857198 210857198 A G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2395 p.S799P 0.021 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 41 0 0.00 50 6 10.71 KIAA0408 0 genome.wustl.edu 37 6 127771030 127771030 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 127771030 127771030 G A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.515 p.A172V 1.000 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 tier1 - - 119 0 0.00 120 15 11.11 KIAA1217 0 genome.wustl.edu 37 10 24790441 24790441 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 24790441 24790441 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.1968 p.L656 0.937 pfam_AIP3_C pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 56 0 0.00 37 12 24.49 KIAA1324 0 genome.wustl.edu 37 1 109707269 109707269 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 109707269 109707269 G A SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known missense c.423 p.M141I 1.000 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 tier1 - - 41 0 0.00 29 4 12.12 KIAA1551 0 genome.wustl.edu 37 12 32135402 32135402 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 32135402 32135402 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.1513 p.P505S 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 113 0 0.00 96 14 12.73 KIF1A 0 genome.wustl.edu 37 2 241700750 241700750 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 241700750 241700750 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2161 p.R721W 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 48 0 0.00 20 18 47.37 KLHL6 0 genome.wustl.edu 37 3 183226172 183226173 + Frame_Shift_Del DEL CT CT - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 183226172 183226173 CT - DEL KLHL6 ENST00000341319 human ensembl 74_37 -1 known frame_shift_del c.584_583 p.S195fs 0.283:0.221 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 tier1 69 0 0.00 65 15 18.75 KLK14 0 genome.wustl.edu 37 19 51582848 51582848 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 51582848 51582848 G A SNP KLK14 ENST00000156499 human ensembl 74_37 -1 known silent c.372 p.H124 0.865 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 KLK14 HGNC ENSG00000129437 tier1 - - 17 0 0.00 23 9 28.12 KMT2C 0 genome.wustl.edu 37 7 151880236 151880236 + Frame_Shift_Del DEL T T - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 151880236 151880236 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.5088 p.A1697fs 1.000 superfamily_HMG_box_dom,smart_HMG_box_dom 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 tier1 362 0 0.00 298 37 11.04 KNTC1 0 genome.wustl.edu 37 12 123069441 123069442 + Frame_Shift_Ins INS - - G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 123069441 123069442 - G INS KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_ins c.3438_3439 p.F1146fs 1.000:0.998 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 19 0 0.00 17 9 34.62 KNTC1 0 genome.wustl.edu 37 12 123069447 123069447 + Missense_Mutation SNP A A C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 123069447 123069447 A C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.3444 p.L1148F 0.980 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 20 0 0.00 16 11 37.93 KRT31 0 genome.wustl.edu 37 17 39553197 39553197 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 39553197 39553197 G A SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known silent c.399 p.N133 0.995 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 tier1 - - 77 0 0.00 72 19 20.88 KRT71 0 genome.wustl.edu 37 12 52946763 52946763 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 52946763 52946763 C T SNP KRT71 ENST00000267119 human ensembl 74_37 -1 known silent c.99 p.R33 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 tier1 - - 107 0 0.00 70 11 13.58 LATS2 0 genome.wustl.edu 37 13 21562161 21562161 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 13 21562161 21562161 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known silent c.1758 p.D586 0.958 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 tier1 rs202224882 - 205 0 0.00 234 13 5.20 LBP 0 genome.wustl.edu 37 20 36997774 36997774 + Missense_Mutation SNP T T A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 36997774 36997774 T A SNP LBP ENST00000217407 human ensembl 74_37 +1 known missense c.1117 p.S373T 0.112 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 tier1 - - 64 0 0.00 98 13 11.61 LBX2 0 genome.wustl.edu 37 2 74725100 74725100 + Missense_Mutation SNP T T G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 74725100 74725100 T G SNP LBX2 ENST00000377566 human ensembl 74_37 -1 known missense c.551 p.D184A 0.013 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors LBX2 HGNC ENSG00000179528 tier1 - - 38 0 0.00 26 10 27.78 LMNA 0 genome.wustl.edu 37 1 156100449 156100449 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 156100449 156100449 G T SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.398 p.R133L 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 tier1 rs60864230 - 73 0 0.00 55 9 14.06 LMNA 0 genome.wustl.edu 37 1 156100522 156100522 + Silent SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 156100522 156100522 G T SNP LMNA ENST00000368300 human ensembl 74_37 +1 known silent c.471 p.T157 0.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 tier1 - - 24 0 0.00 13 8 38.10 LOC100132891 0 genome.wustl.edu 37 8 72965069 72965069 + RNA SNP T T G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 8 72965069 72965069 T G SNP LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 - - 19 0 0.00 19 6 24.00 LRFN3 0 genome.wustl.edu 37 19 36430559 36430559 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 36430559 36430559 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.232 p.D78N 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,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 LRFN3 HGNC ENSG00000126243 tier1 - - 31 0 0.00 14 12 46.15 LRP1B 0 genome.wustl.edu 37 2 141609255 141609255 + Missense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 141609255 141609255 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4677 p.L1559F 1.000 smart_EG-like_dom 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 tier1 - - 137 0 0.00 114 40 25.97 LRRIQ3 0 genome.wustl.edu 37 1 74507273 74507273 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 74507273 74507273 C T SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known missense c.1342 p.V448I 0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 251 0 0.00 169 32 15.92 LYZL2 0 genome.wustl.edu 37 10 30915774 30915774 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 30915774 30915774 C T SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known missense c.209 p.R70H 0.999 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 tier1 - - 78 0 0.00 71 11 13.41 MAGI2 0 genome.wustl.edu 37 7 79082384 79082384 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 79082384 79082384 C T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.253 p.V85M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 MAGI2 HGNC ENSG00000187391 tier1 - - 58 0 0.00 35 5 12.50 MAL 0 genome.wustl.edu 37 2 95715448 95715448 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 95715448 95715448 C T SNP MAL ENST00000309988 human ensembl 74_37 +1 known silent c.384 p.A128 0.629 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 tier1 rs149416032 - 66 0 0.00 57 10 14.93 MAP1B 0 genome.wustl.edu 37 5 71492630 71492630 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 71492630 71492630 G A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.3448 p.E1150K 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 41 0 0.00 31 10 24.39 MAST2 0 genome.wustl.edu 37 1 46501256 46501256 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 46501256 46501256 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.4915 p.P1639S 0.411 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 32 0 0.00 40 3 6.98 ME3 0 genome.wustl.edu 37 11 86158221 86158221 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 86158221 86158221 C T SNP ME3 ENST00000359636 human ensembl 74_37 -1 known silent c.1266 p.T422 0.993 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 tier1 - - 44 0 0.00 20 10 33.33 MNT 0 genome.wustl.edu 37 17 2297369 2297369 + Missense_Mutation SNP T T G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 2297369 2297369 T G SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.775 p.S259R 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 tier1 - - 57 0 0.00 46 6 11.54 MTMR11 0 genome.wustl.edu 37 1 149902647 149902648 + RNA INS - - A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 149902647 149902648 - A INS MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 tier1 24 0 0.00 17 3 15.00 MUC16 0 genome.wustl.edu 37 19 9048951 9048951 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 9048951 9048951 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32680 p.P10894T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 102 0 0.00 73 16 17.98 MUC16 0 genome.wustl.edu 37 19 9057280 9057280 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 9057280 9057280 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30166 p.P10056S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 38 0 0.00 24 13 35.14 MYBPC3 0 genome.wustl.edu 37 11 47360202 47360202 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 47360202 47360202 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.2177 p.R726H 0.229 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-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 MYBPC3 HGNC ENSG00000134571 18 0 0.00 21 4 16.00 MYL6 0 genome.wustl.edu 37 12 56552423 56552423 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 56552423 56552423 G A SNP MYL6 ENST00000536128 human ensembl 74_37 +1 putative missense c.238 p.G80R 0.015 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL6 HGNC ENSG00000092841 tier1 - - 131 0 0.00 155 23 12.92 MYL6 0 genome.wustl.edu 37 12 56552439 56552439 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 56552439 56552439 T C SNP MYL6 ENST00000536128 human ensembl 74_37 +1 putative missense c.254 p.M85T 0.103 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL6 HGNC ENSG00000092841 tier1 - - 147 0 0.00 162 24 12.90 MYO18A 0 genome.wustl.edu 37 17 27448662 27448662 + Frame_Shift_Del DEL A A - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 27448662 27448662 A - DEL MYO18A ENST00000354329 human ensembl 74_37 -1 known frame_shift_del c.1274 p.L425fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 tier1 8 0 0.00 4 2 33.33 MYT1L 0 genome.wustl.edu 37 2 1983312 1983312 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 1983312 1983312 C A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.70 p.A24S 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 74 0 0.00 60 16 21.05 NCF4 0 genome.wustl.edu 37 22 37272122 37272122 + Silent SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 22 37272122 37272122 G T SNP NCF4 ENST00000248899 human ensembl 74_37 +1 known silent c.810 p.L270 0.998 pfam_OPR_PB1,smart_OPR_PB1 pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 11 0 0.00 19 5 20.83 NEIL3 0 genome.wustl.edu 37 4 178256869 178256869 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 4 178256869 178256869 C T SNP NEIL3 ENST00000513321 human ensembl 74_37 +1 known missense c.184 p.H62Y 0.990 NULL NULL - no_errors NEIL3 HGNC ENSG00000109674 tier1 - - 101 0 0.00 80 5 5.88 NFX1 0 genome.wustl.edu 37 9 33301348 33301348 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 9 33301348 33301348 G T SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known missense c.1121 p.C374F 1.000 smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 tier1 - - 158 0 0.00 136 28 17.07 NGFRAP1 0 genome.wustl.edu 37 X 102632562 102632562 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 102632562 102632562 G A SNP NGFRAP1 ENST00000299872 human ensembl 74_37 +1 known missense c.143 p.R48Q 1.000 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors NGFRAP1 HGNC ENSG00000166681 tier1 - - 119 0 0.00 98 24 19.51 NOVA1 0 genome.wustl.edu 37 14 27064638 27064641 + Frame_Shift_Del DEL AGAC AGAC - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 14 27064638 27064641 AGAC 0 DEL NOVA1 ENST00000539517 human ensembl 74_37 -1 known frame_shift_del c.258_255 p.K87fs 1.000:1.000:1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 161 0 0.00 154 9 5.52 NR2F1 0 genome.wustl.edu 37 5 92929393 92929393 + Nonsense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 92929393 92929393 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known nonsense c.1117 p.R373* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 tier1 - - 68 0 0.00 69 18 20.69 NR6A1 0 genome.wustl.edu 37 9 127495614 127495614 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 9 127495614 127495614 C T SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.115 p.E39K 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 tier1 - - 120 0 0.00 120 15 11.11 NRM 0 genome.wustl.edu 37 6 30656530 30656530 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 30656530 30656530 C T SNP NRM ENST00000259953 human ensembl 74_37 -1 known missense c.697 p.G233R 0.160 NULL pfam_NnrU - no_errors NRM HGNC ENSG00000137404 42 0 0.00 46 3 6.00 OR11L1 0 genome.wustl.edu 37 1 248005197 248005197 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 248005197 248005197 A G SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.2 p.M1T 0.995 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 65 0 0.00 51 10 16.39 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 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 tier1 39 0 0.00 38 2 5.00 OR4C15 0 genome.wustl.edu 37 11 55322026 55322026 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 55322026 55322026 G T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.244 p.V82L 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 tier1 - - 191 0 0.00 156 14 8.24 OR4F6 0 genome.wustl.edu 37 15 102346286 102346286 + Nonsense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 102346286 102346286 C T SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known nonsense c.364 p.R122* 0.567 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 OR4F6 HGNC ENSG00000184140 tier1 - - 283 0 0.00 266 20 6.97 OR4X1 0 genome.wustl.edu 37 11 48286090 48286090 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 48286090 48286090 C A SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known missense c.678 p.H226Q 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 tier1 - - 50 0 0.00 41 6 12.77 PAPLN 0 genome.wustl.edu 37 14 73717661 73717661 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 14 73717661 73717661 A G SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.512 p.K171R 1.000 prints_Peptidase_M12B_ADAM-TS pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 tier1 - - 52 0 0.00 62 5 7.46 PAPPA2 0 genome.wustl.edu 37 1 176760496 176760496 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 176760496 176760496 G T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4898 p.C1633F 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 103 0 0.00 62 13 17.33 PCDHA4 0 genome.wustl.edu 37 5 140189049 140189049 + Missense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 140189049 140189049 C G SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.2277 p.C759W 0.690 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 tier1 - - 88 0 0.00 59 10 14.29 PDCD11 0 genome.wustl.edu 37 10 105200538 105200538 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 105200538 105200538 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.4488 p.D1496 0.003 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 39 0 0.00 27 14 34.15 PDHA2 0 genome.wustl.edu 37 4 96762459 96762459 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 4 96762459 96762459 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.1158 p.S386 0.007 NULL pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 rs146428499 - 53 0 0.00 36 10 21.74 PDIA3 0 genome.wustl.edu 37 15 44038867 44038867 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 44038867 44038867 T C SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.130 p.S44P 0.604 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 tier1 - - 58 0 0.00 56 13 18.84 PPP1R13B 0 genome.wustl.edu 37 14 104204048 104204048 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 14 104204048 104204048 C T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.3014 p.C1005Y 1.000 superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 27 0 0.00 37 2 5.13 PPP4R1 0 genome.wustl.edu 37 18 9559488 9559488 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 9559488 9559488 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.1957 p.A653T 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 tier1 - - 216 0 0.00 215 38 15.02 PRKCD 0 genome.wustl.edu 37 3 53220651 53220651 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 3 53220651 53220651 A G SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known missense c.1292 p.N431S 0.990 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_Prot_kin_PKC_delta,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,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_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 tier1 - - 234 0 0.00 209 26 11.06 PSG3 0 genome.wustl.edu 37 19 43242958 43242958 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 43242958 43242958 G T SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.348 p.D116E 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 394 0 0.00 395 45 10.23 PSPH 0 genome.wustl.edu 37 7 56087319 56087319 + Missense_Mutation SNP T T G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 56087319 56087319 T G SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.249 p.Q83H 0.996 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 tier1 rs73343757 - 41 0 0.00 52 5 8.77 RAB6A 0 genome.wustl.edu 37 11 73429893 73429893 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 73429893 73429893 G A SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.226 p.R76C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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 RAB6A HGNC ENSG00000175582 tier1 - - 93 0 0.00 77 40 34.19 RASAL3 0 genome.wustl.edu 37 19 15571900 15571900 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 15571900 15571900 C A SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.577 p.A193S 0.398 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 tier1 - - 60 0 0.00 38 13 25.49 RHOBTB2 0 genome.wustl.edu 37 8 22874842 22874842 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 8 22874842 22874842 C T SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.2044 p.R682W 0.998 NULL 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 RHOBTB2 HGNC ENSG00000008853 tier1 - - 41 0 0.00 37 6 13.95 RP9P 0 genome.wustl.edu 37 7 32956866 32956866 + RNA SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 32956866 32956866 C T SNP RP9P ENST00000381639 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP9P HGNC ENSG00000205763 tier1 - - 167 0 0.00 180 30 14.29 SBF1 0 genome.wustl.edu 37 22 50893742 50893742 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 22 50893742 50893742 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.4465 p.R1489C 0.998 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 tier1 - - 29 0 0.00 20 9 31.03 SCN2A 0 genome.wustl.edu 37 2 166201249 166201249 + Missense_Mutation SNP A A G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 166201249 166201249 A G SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.2747 p.N916S 0.961 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 155 0 0.00 108 54 33.33 SCN9A 0 genome.wustl.edu 37 2 167055964 167055964 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 167055964 167055964 C A SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.5188 p.D1730Y 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 251 0 0.00 193 23 10.60 SCUBE2 0 genome.wustl.edu 37 11 9048992 9048992 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 9048992 9048992 G A SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.2620 p.R874C 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 42 0 0.00 33 11 25.00 SCYL3 0 genome.wustl.edu 37 1 169847834 169847834 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 169847834 169847834 C T SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.292 p.A98T 1.000 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 tier1 - - 113 0 0.00 92 12 11.54 SEC23A 0 genome.wustl.edu 37 14 39565270 39565270 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 14 39565270 39565270 C T SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.53 p.R18Q 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 tier1 - - 176 0 0.00 142 18 11.25 SERPINA10 0 genome.wustl.edu 37 14 94756466 94756466 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 14 94756466 94756466 G T SNP SERPINA10 ENST00000261994 human ensembl 74_37 -1 known missense c.465 p.N155K 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC ENSG00000140093 tier1 - - 97 0 0.00 81 10 10.99 SIAE 0 genome.wustl.edu 37 11 124518007 124518007 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 11 124518007 124518007 G A SNP SIAE ENST00000263593 human ensembl 74_37 -1 known missense c.787 p.H263Y 1.000 pfam_DUF303_acetylest pfam_DUF303_acetylest - no_errors SIAE HGNC ENSG00000110013 53 0 0.00 39 3 6.98 SLC10A3 0 genome.wustl.edu 37 X 153716809 153716809 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc X 153716809 153716809 G A SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known silent c.471 p.P157 0.014 tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 42 0 0.00 57 3 5.00 SLC17A4 0 genome.wustl.edu 37 6 25779370 25779370 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 25779370 25779370 C A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.1448 p.A483E 0.427 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 115 0 0.00 85 11 11.46 SLC4A2 0 genome.wustl.edu 37 7 150768838 150768838 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 150768838 150768838 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.2254 p.V752M 0.641 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,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 rs139758611 - 83 0 0.00 55 10 15.38 SLCO4C1 0 genome.wustl.edu 37 5 101593680 101593680 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 101593680 101593680 C T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known missense c.1240 p.G414R 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 118 0 0.00 77 26 25.24 SNORD116-12 0 genome.wustl.edu 37 15 25322204 25322204 + RNA SNP A A T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 25322204 25322204 A T SNP SNORD116-12 ENST00000384468 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors SNORD116-12 HGNC ENSG00000207197 tier1 - - 142 0 0.00 144 15 9.43 SRMS 0 genome.wustl.edu 37 20 62172300 62172300 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 62172300 62172300 C T SNP SRMS ENST00000217188 human ensembl 74_37 -1 known silent c.1338 p.P446 0.014 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,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 SRMS HGNC ENSG00000125508 tier1 - - 115 0 0.00 131 11 7.75 SRRM2 0 genome.wustl.edu 37 16 2816493 2816493 + Silent SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 16 2816493 2816493 G A SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.5964 p.P1988 0.730 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 29 0 0.00 15 5 25.00 TAF1L 0 genome.wustl.edu 37 9 32631119 32631119 + Nonsense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 9 32631119 32631119 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known nonsense c.4459 p.Q1487* 0.999 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain 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 tier1 - - 252 0 0.00 166 77 31.69 TBC1D9B 0 genome.wustl.edu 37 5 179320369 179320369 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 179320369 179320369 G T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.676 p.L226I 1.000 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 tier1 - - 52 0 0.00 31 9 22.50 TBX4 0 genome.wustl.edu 37 17 59560630 59560630 + Missense_Mutation SNP A A T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 59560630 59560630 A T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known missense c.1394 p.Q465L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 tier1 - - 71 0 0.00 52 4 7.14 TCHHL1 0 genome.wustl.edu 37 1 152059755 152059755 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 152059755 152059755 G T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.403 p.P135T 0.947 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 tier1 - - 87 0 0.00 99 26 20.80 TGM5 0 genome.wustl.edu 37 15 43552720 43552720 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 43552720 43552720 G A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.68 p.T23M 0.997 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 109 0 0.00 126 12 8.70 THSD7B 0 genome.wustl.edu 37 2 137928507 137928507 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 137928507 137928507 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.1722 p.R574 0.371 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 33 0 0.00 35 6 14.63 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 56 0 0.00 45 5 10.00 TP53 0 genome.wustl.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 7578394 7578394 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.536 p.H179R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 46 0 0.00 56 15 21.13 TPST2 0 genome.wustl.edu 37 22 26937194 26937194 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 22 26937194 26937194 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.403 p.A135T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 tier1 - - 29 0 0.00 7 6 46.15 TRAPPC3 0 genome.wustl.edu 37 1 36603533 36603533 + Nonsense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 1 36603533 36603533 C T SNP TRAPPC3 ENST00000373166 human ensembl 74_37 -1 known nonsense c.287 p.W96* 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 56 0 0.00 64 12 15.79 TRIM41 0 genome.wustl.edu 37 5 180651586 180651586 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 180651586 180651586 G A SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.587 p.R196H 0.990 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 25 0 0.00 27 4 12.90 TRPA1 0 genome.wustl.edu 37 8 72968012 72968012 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 8 72968012 72968012 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1273 p.G425S 0.181 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 45 0 0.00 41 5 10.87 TTN 0 genome.wustl.edu 37 2 179581971 179581971 + Missense_Mutation SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 179581971 179581971 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21758 p.R7253L 0.963 pfam_Ig_I-set,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 tier1 - - 53 0 0.00 61 6 8.96 TXNRD1 0 genome.wustl.edu 37 12 104715062 104715062 + Missense_Mutation SNP A A T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 12 104715062 104715062 A T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1183 p.I395F 0.125 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 62 0 0.00 63 8 11.27 UGT2A2 0 genome.wustl.edu 37 4 70460194 70460194 + Splice_Site SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 4 70460194 70460194 C G SNP UGT2A2 ENST00000457664 human ensembl 74_37 -1 known splice_site c.1331+1 e5+1 1.000 - - - no_errors UGT2A2 HGNC ENSG00000271271 tier1 - - 120 0 0.00 85 15 15.00 VIP 0 genome.wustl.edu 37 6 153073385 153073385 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 153073385 153073385 G A SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.73 p.A25T 0.995 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 tier1 - - 53 0 0.00 41 4 8.89 WDR60 0 genome.wustl.edu 37 7 158718976 158718976 + Frame_Shift_Del DEL T T - TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 7 158718976 158718976 T - DEL WDR60 ENST00000407559 human ensembl 74_37 +1 known frame_shift_del c.2356 p.S787fs 0.187 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 13 0 0.00 9 2 18.18 WDR72 0 genome.wustl.edu 37 15 53957852 53957852 + Missense_Mutation SNP T T G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 15 53957852 53957852 T G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.1879 p.K627Q 0.941 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 65 0 0.00 55 16 22.54 WDR75 0 genome.wustl.edu 37 2 190320060 190320060 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 190320060 190320060 G T SNP WDR75 ENST00000314761 human ensembl 74_37 +1 known missense c.388 p.V130F 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 WDR75 HGNC ENSG00000115368 tier1 - - 142 0 0.00 114 9 7.32 WDR81 0 genome.wustl.edu 37 17 1637117 1637117 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 17 1637117 1637117 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4786 p.G1596R 0.000 NULL 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 tier1 rs148122027 - 44 0 0.00 40 5 11.11 WNT8A 0 genome.wustl.edu 37 5 137426753 137426753 + Silent SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 5 137426753 137426753 C A SNP WNT8A ENST00000398754 human ensembl 74_37 +1 known silent c.1047 p.G349 0.006 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 tier1 - - 80 0 0.00 72 16 18.18 ZEB2 0 genome.wustl.edu 37 2 145157807 145157807 + Missense_Mutation SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 2 145157807 145157807 T C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.947 p.K316R 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 tier1 - - 83 0 0.00 102 8 7.27 ZFP64 0 genome.wustl.edu 37 20 50769797 50769797 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 50769797 50769797 C T SNP ZFP64 ENST00000216923 human ensembl 74_37 -1 known missense c.934 p.G312R 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 tier1 - - 78 0 0.00 82 8 8.89 ZNF222 0 genome.wustl.edu 37 19 44536197 44536197 + Missense_Mutation SNP C C G TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 44536197 44536197 C G SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known missense c.490 p.Q164E 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 ZNF222 HGNC ENSG00000159885 tier1 - - 115 0 0.00 107 29 21.17 ZNF318 0 genome.wustl.edu 37 6 43307449 43307449 + Silent SNP T T C TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 6 43307449 43307449 T C SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.4287 p.E1429 0.998 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 tier1 - - 136 0 0.00 126 18 12.50 ZNF324B 0 genome.wustl.edu 37 19 58967601 58967601 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 58967601 58967601 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.1290 p.C430 0.948 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 ZNF324B HGNC ENSG00000249471 tier1 - - 74 0 0.00 60 25 29.41 ZNF397 0 genome.wustl.edu 37 18 32822693 32822693 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 32822693 32822693 G A SNP ZNF397 ENST00000330501 human ensembl 74_37 +1 known missense c.259 p.E87K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZNF397 HGNC ENSG00000186812 tier1 - - 60 0 0.00 36 12 25.00 ZNF512B 0 genome.wustl.edu 37 20 62595880 62595880 + Silent SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 20 62595880 62595880 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known silent c.1224 p.A408 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 27 0 0.00 23 11 32.35 ZNF516 0 genome.wustl.edu 37 18 74091302 74091302 + Missense_Mutation SNP C C T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 18 74091302 74091302 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2768 p.G923E 0.596 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 tier1 - - 28 0 0.00 19 5 20.83 ZNF518A 0 genome.wustl.edu 37 10 97917462 97917462 + RNA SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 10 97917462 97917462 G A SNP ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 82 0 0.00 50 24 32.43 ZNF549 0 genome.wustl.edu 37 19 58048579 58048579 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 58048579 58048579 G T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.207 p.L69F 0.081 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 ZNF549 HGNC ENSG00000121406 tier1 - - 105 0 0.00 53 22 29.33 ZNF611 0 genome.wustl.edu 37 19 53217318 53217318 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 53217318 53217318 G T SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.140 p.A47D 0.422 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 ZNF611 HGNC ENSG00000213020 tier1 - - 186 0 0.00 137 49 26.06 ZNF626 0 genome.wustl.edu 37 19 20829212 20829212 + Splice_Site SNP C C A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 20829212 20829212 C A SNP ZNF626 ENST00000601440 human ensembl 74_37 -1 known splice_site c.4-1 e2-1 0.098 - - - no_errors ZNF626 HGNC ENSG00000188171 233 0 0.00 216 14 6.09 ZNF793 0 genome.wustl.edu 37 19 38028655 38028655 + Missense_Mutation SNP G G T TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 38028655 38028655 G T SNP ZNF793 ENST00000445217 human ensembl 74_37 +1 known missense c.1095 p.K365N 0.993 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 ZNF793 HGNC ENSG00000188227 tier1 - - 63 0 0.00 34 6 15.00 ZSCAN5C 0 genome.wustl.edu 37 19 56720246 56720246 + Missense_Mutation SNP G G A TCGA-FP-A9TM-01A-11D-A397-08 TCGA-FP-A9TM-10A-01D-A39A-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9ccbd835-08f9-4195-8e99-3b872dfa23be 2aa6dcf1-3fcb-4de0-9650-0cf46d796bdc 19 56720246 56720246 G A SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.1168 p.G390R 0.004 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 tier1 - - 17 0 0.00 16 6 27.27