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 ACE 0 genome.wustl.edu 37 17 61564065 61564065 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 61564065 61564065 G A SNP ACE ENST00000290866 human ensembl 74_37 +1 known missense c.2206 p.E736K 0.963 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 tier1 - - 37 0 0.00 22 17 43.59 ACOXL 0 genome.wustl.edu 37 2 111666433 111666433 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 111666433 111666433 C T SNP ACOXL ENST00000439055 human ensembl 74_37 +1 known missense c.856 p.R286W 0.052 pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase - no_errors ACOXL HGNC ENSG00000153093 64 0 0.00 51 3 5.56 AFAP1L2 0 genome.wustl.edu 37 10 116073779 116073779 + Nonsense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 116073779 116073779 G A SNP AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known nonsense c.802 p.Q268* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 - - 79 0 0.00 46 15 24.59 AFF1 0 genome.wustl.edu 37 4 88029349 88029349 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 88029349 88029349 A G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.1415 p.H472R 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 tier1 - - 60 0 0.00 32 48 60.00 AKT1 0 genome.wustl.edu 37 14 105238734 105238734 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 105238734 105238734 C T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known missense c.1228 p.G410S 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 tier1 rs146483593 - 71 0 0.00 54 4 6.90 ALDH1B1 0 genome.wustl.edu 37 9 38396393 38396393 + Silent SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 38396393 38396393 C G SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known silent c.648 p.L216 0.014 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 tier1 - - 56 0 0.00 20 5 18.52 AMER1 0 genome.wustl.edu 37 X 63410562 63410562 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 63410562 63410562 G T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.2605 p.L869I 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 49 0 0.00 50 5 9.09 AP4E1 0 genome.wustl.edu 37 15 51260514 51260514 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 51260514 51260514 G C SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1906 p.G636R 0.999 superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 tier1 - - 143 0 0.00 88 41 31.78 ARHGAP30 0 genome.wustl.edu 37 1 161024465 161024465 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 161024465 161024465 G A SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.376 p.R126C 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 tier1 - - 53 0 0.00 53 10 15.87 ARID1B 0 genome.wustl.edu 37 6 157405821 157405821 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 157405821 157405821 T C SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.2024 p.L675P 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 47 0 0.00 47 4 7.84 ASNA1 0 genome.wustl.edu 37 19 12856259 12856259 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 12856259 12856259 C T SNP ASNA1 ENST00000357332 human ensembl 74_37 +1 known silent c.378 p.S126 1.000 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 tier1 - - 50 0 0.00 38 23 37.70 ATP10A 0 genome.wustl.edu 37 15 25961902 25961902 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 25961902 25961902 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1751 p.T584M 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 93 0 0.00 54 10 15.62 ATP10A 0 genome.wustl.edu 37 15 25966869 25966869 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 25966869 25966869 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1298 p.T433I 0.997 superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 93 0 0.00 95 5 5.00 ATP7B 0 genome.wustl.edu 37 13 52549268 52549268 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 13 52549268 52549268 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.88 p.E30K 0.183 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 tier1 - - 70 0 0.00 49 7 12.50 ATP8B1 0 genome.wustl.edu 37 18 55371857 55371857 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 18 55371857 55371857 A G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.323 p.I108T 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 - - 73 0 0.00 40 6 13.04 ATRX 0 genome.wustl.edu 37 X 76855037 76855037 + Silent SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 76855037 76855037 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known silent c.5799 p.K1933 0.972 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 33 0 0.00 31 3 8.82 BAIAP2L1 0 genome.wustl.edu 37 7 97939821 97939821 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 97939821 97939821 C A SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.891 p.L297F 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 tier1 - - 94 0 0.00 136 8 5.56 BNC1 0 genome.wustl.edu 37 15 83932301 83932301 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 83932301 83932301 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1702 p.P568S 0.246 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 63 0 0.00 43 4 8.51 BRIP1 0 genome.wustl.edu 37 17 59885975 59885975 + Silent SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 59885975 59885975 A G SNP BRIP1 ENST00000259008 human ensembl 74_37 -1 known silent c.771 p.A257 1.000 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors BRIP1 HGNC ENSG00000136492 tier1 - - 42 0 0.00 48 4 7.69 C1QTNF1-AS1 0 genome.wustl.edu 37 17 77016151 77016151 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 77016151 77016151 A G SNP C1QTNF1-AS1 ENST00000581579 human ensembl 74_37 -1 putative missense c.77 p.L26P 0.000 NULL NULL - no_errors C1QTNF1-AS1 HGNC ENSG00000265096 tier1 - - 49 0 0.00 30 5 14.29 C1orf74 0 genome.wustl.edu 37 1 209956409 209956409 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 209956409 209956409 C T SNP C1orf74 ENST00000294811 human ensembl 74_37 -1 known missense c.571 p.D191N 0.696 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 tier1 - - 85 0 0.00 62 17 21.52 C6orf57 0 genome.wustl.edu 37 6 71289168 71289168 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 71289168 71289168 G A SNP C6orf57 ENST00000370474 human ensembl 74_37 +1 known missense c.116 p.G39E 0.300 NULL pfam_DUF1674 - no_errors C6orf57 HGNC ENSG00000154079 tier1 - - 123 0 0.00 69 36 34.29 CA1 0 genome.wustl.edu 37 8 86244762 86244762 + Missense_Mutation SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 86244762 86244762 T A SNP CA1 ENST00000256119 human ensembl 74_37 -1 known missense c.470 p.K157M 0.432 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA1 HGNC ENSG00000133742 tier1 - - 68 0 0.00 67 14 17.28 CASP1 0 genome.wustl.edu 37 11 104903833 104903833 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 104903833 104903833 G T SNP CASP1 ENST00000436863 human ensembl 74_37 -1 known missense c.295 p.L99I 0.000 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP1 HGNC ENSG00000137752 tier1 - - 66 0 0.00 39 4 9.30 CATSPER1 0 genome.wustl.edu 37 11 65793203 65793203 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 65793203 65793203 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.648 p.G216 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 tier1 - - 89 0 0.00 100 6 5.61 CBLB 0 genome.wustl.edu 37 3 105421182 105421182 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 105421182 105421182 C G SNP CBLB ENST00000264122 human ensembl 74_37 -1 known missense c.1715 p.S572T 0.962 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 69 0 0.00 52 3 5.45 CCDC63 0 genome.wustl.edu 37 12 111317835 111317835 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 111317835 111317835 G T SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.615 p.M205I 0.006 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 49 0 0.00 70 4 5.41 CEACAM16 0 genome.wustl.edu 37 19 45211162 45211162 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 45211162 45211162 G A SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.970 p.V324M 0.929 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 tier1 - - 55 0 0.00 31 4 11.43 CHD8 0 genome.wustl.edu 37 14 21859177 21859177 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 21859177 21859177 T C SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.7111 p.N2371D 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 48 0 0.00 57 3 5.00 CLEC2A 0 genome.wustl.edu 37 12 10084889 10084889 + Missense_Mutation SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 10084889 10084889 A T SNP CLEC2A ENST00000455827 human ensembl 74_37 -1 known missense c.40 p.F14I 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2A HGNC ENSG00000188393 tier1 - - 55 0 0.00 18 16 47.06 CLEC4M 0 genome.wustl.edu 37 19 7830858 7830858 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 7830858 7830858 G T SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.549 p.Q183H 0.008 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 tier1 - - 103 0 0.00 64 29 31.18 CLEC4M 0 genome.wustl.edu 37 19 7830789 7830789 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 7830789 7830789 G T SNP CLEC4M ENST00000327325 human ensembl 74_37 +1 known missense c.480 p.Q160H 0.005 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4M HGNC ENSG00000104938 69 0 0.00 56 9 13.85 CLRN1-AS1 0 genome.wustl.edu 37 3 150780576 150780576 + RNA SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 150780576 150780576 G T SNP CLRN1-AS1 ENST00000465576 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors CLRN1-AS1 HGNC ENSG00000239265 tier1 - - 21 0 0.00 33 11 25.00 CMAHP 0 genome.wustl.edu 37 6 25106621 25106621 + RNA SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 25106621 25106621 C T SNP CMAHP ENST00000377989 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CMAHP HGNC ENSG00000168405 tier1 - - 109 0 0.00 57 4 6.56 CMKLR1 0 genome.wustl.edu 37 12 108685821 108685821 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 108685821 108685821 C T SNP CMKLR1 ENST00000312143 human ensembl 74_37 -1 known missense c.919 p.A307T 0.439 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt - no_errors CMKLR1 HGNC ENSG00000174600 41 0 0.00 48 3 5.88 COL16A1 0 genome.wustl.edu 37 1 32154674 32154674 + Missense_Mutation SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 32154674 32154674 T A SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known missense c.1633 p.I545F 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 tier1 - - 25 0 0.00 18 4 18.18 COL6A3 0 genome.wustl.edu 37 2 238242105 238242105 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 238242105 238242105 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.9316 p.L3106F 0.001 superfamily_Prot_inh_Kunz-m pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 rs112455407 - 94 0 0.00 56 8 12.50 CRAMP1L 0 genome.wustl.edu 37 16 1716165 1716165 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 16 1716165 1716165 G A SNP CRAMP1L ENST00000293925 human ensembl 74_37 +1 known silent c.2844 p.T948 0.001 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 tier1 - - 137 0 0.00 139 26 15.76 CTNNA2 0 genome.wustl.edu 37 2 80808922 80808922 + Missense_Mutation SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 80808922 80808922 T A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2087 p.L696H 1.000 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 80 0 0.00 60 8 11.76 CYP2F1 0 genome.wustl.edu 37 19 41622165 41622165 + Silent SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 41622165 41622165 A G SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known silent c.72 p.S24 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 48 0 0.00 57 3 5.00 DCTD 0 genome.wustl.edu 37 4 183815663 183815663 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 183815663 183815663 C T SNP DCTD ENST00000357067 human ensembl 74_37 -1 known missense c.373 p.A125T 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC ENSG00000129187 tier1 - - 108 0 0.00 67 16 19.28 DNAH7 0 genome.wustl.edu 37 2 196799411 196799411 + Silent SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 196799411 196799411 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.3375 p.V1125 0.998 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 67 0 0.00 81 20 19.80 DOCK10 0 genome.wustl.edu 37 2 225710304 225710304 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 225710304 225710304 A G SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.2291 p.F764S 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 43 0 0.00 40 3 6.98 DRG1 0 genome.wustl.edu 37 22 31799191 31799191 + Splice_Site SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 22 31799191 31799191 G A SNP DRG1 ENST00000331457 human ensembl 74_37 +1 known splice_site c.342+1 e3+1 1.000 - - - no_errors DRG1 HGNC ENSG00000185721 tier1 - - 59 0 0.00 76 4 5.00 EFNA2 0 genome.wustl.edu 37 19 1299899 1299899 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 1299899 1299899 C T SNP EFNA2 ENST00000215368 human ensembl 74_37 +1 known silent c.597 p.L199 0.982 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA2 HGNC ENSG00000099617 30 0 0.00 17 3 15.00 EIF2B1 0 genome.wustl.edu 37 12 124107310 124107310 + Splice_Site SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 124107310 124107310 T A SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known splice_site c.628-2 e8-2 1.000 - - - no_errors EIF2B1 HGNC ENSG00000111361 tier1 - - 51 0 0.00 43 4 8.33 ENSG00000221291 0 genome.wustl.edu 37 18 50463676 50463676 + RNA SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 18 50463676 50463676 T C SNP ENSG00000221291 ENST00000408364 human ensembl 74_37 +1 novel rna NULL NULL 0.004 - - - no_errors AC090660.1 Clone_based_ensembl_gene ENSG00000221291 tier1 - - 21 0 0.00 9 7 43.75 ENSG00000221328 0 genome.wustl.edu 37 20 13936483 13936483 + RNA SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 20 13936483 13936483 C G SNP ENSG00000221328 ENST00000408401 human ensembl 74_37 -1 novel rna NULL NULL 0.012 - - - no_errors AL117333.1 Clone_based_ensembl_gene ENSG00000221328 tier1 - - 43 0 0.00 52 8 13.33 ENSG00000224879 0 genome.wustl.edu 37 2 79385594 79385594 + RNA SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 79385594 79385594 G T SNP ENSG00000224879 ENST00000415201 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC011754.1 Clone_based_vega_gene ENSG00000224879 tier1 - - 98 0 0.00 82 10 10.87 ENSG00000225411 0 genome.wustl.edu 37 9 68400495 68400495 + RNA SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 68400495 68400495 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.113 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 - - 40 0 0.00 28 5 15.15 ENSG00000254420 0 genome.wustl.edu 37 11 78154810 78154811 + RNA INS - - A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 78154810 78154811 - A INS ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.247:0.000 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 tier1 22 0 0.00 16 4 20.00 ENSG00000270726 0 genome.wustl.edu 37 X 155252079 155252079 + RNA SNP T T G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 155252079 155252079 T G SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 76 0 0.00 23 19 45.24 EPB41L2 0 genome.wustl.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 131191073 131191075 CTG - DEL EPB41L2 ENST00000337057 human ensembl 74_37 -1 known in_frame_del c.2237_2235 p.S746in_frame_del 1.000:1.000:1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 28 0 0.00 24 3 11.11 ERCC2 0 genome.wustl.edu 37 19 45867776 45867776 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 45867776 45867776 G T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.624 p.S208R 1.000 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 tier1 - - 41 0 0.00 47 4 7.84 ESR1 0 genome.wustl.edu 37 6 152265535 152265535 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 152265535 152265535 G A SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.988 p.E330K 0.972 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Oestr_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_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 tier1 - - 70 0 0.00 41 4 8.70 EXO5 0 genome.wustl.edu 37 1 40981009 40981009 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 40981009 40981009 G C SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.793 p.V265L 1.000 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 30 0 0.00 31 2 6.06 FBLN1 0 genome.wustl.edu 37 22 45938145 45938145 + Missense_Mutation SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 22 45938145 45938145 A T SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1177 p.I393F 0.995 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 tier1 - - 43 0 0.00 59 4 6.35 FCGR3A 0 genome.wustl.edu 37 1 161518363 161518363 + Missense_Mutation SNP T T G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 161518363 161518363 T G SNP FCGR3A ENST00000367969 human ensembl 74_37 -1 known missense c.275 p.N92T 0.011 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3A HGNC ENSG00000203747 tier1 - - 182 0 0.00 150 14 8.54 FCGR3B 0 genome.wustl.edu 37 1 161595991 161595991 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 161595991 161595991 C G SNP FCGR3B ENST00000294800 human ensembl 74_37 -1 known missense c.521 p.G174A 0.089 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3B HGNC ENSG00000162747 tier1 - - 185 0 0.00 176 14 7.37 FMO9P 0 genome.wustl.edu 37 1 166592888 166592888 + RNA SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 166592888 166592888 G T SNP FMO9P ENST00000477875 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors FMO9P HGNC ENSG00000215834 tier1 - - 101 0 0.00 50 23 31.51 GABRA5 0 genome.wustl.edu 37 15 27193280 27193280 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 27193280 27193280 G T SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.1289 p.R430L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 82 0 0.00 56 3 5.08 GIPR 0 genome.wustl.edu 37 19 46176172 46176172 + Missense_Mutation SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 46176172 46176172 A T SNP GIPR ENST00000590918 human ensembl 74_37 +1 known missense c.344 p.H115L 0.999 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 tier1 - - 56 0 0.00 54 4 6.90 GJA3 0 genome.wustl.edu 37 13 20717062 20717062 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 13 20717062 20717062 G T SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known silent c.366 p.P122 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 tier1 - - 45 0 0.00 50 4 7.41 GLP2R 0 genome.wustl.edu 37 17 9745813 9745813 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 9745813 9745813 G T SNP GLP2R ENST00000262441 human ensembl 74_37 +1 known missense c.384 p.E128D 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GLP2R HGNC ENSG00000065325 53 0 0.00 28 2 6.67 GNL1 0 genome.wustl.edu 37 6 30522353 30522353 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 30522353 30522353 G T SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.599 p.P200Q 1.000 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 tier1 - - 83 0 0.00 72 13 15.29 GNPDA1 0 genome.wustl.edu 37 5 141385743 141385743 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 141385743 141385743 G T SNP GNPDA1 ENST00000311337 human ensembl 74_37 -1 known silent c.375 p.I125 0.987 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA1 HGNC ENSG00000113552 tier1 - - 55 0 0.00 41 4 8.89 GOLGA8H 0 genome.wustl.edu 37 15 30906226 30906226 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 30906226 30906226 C G SNP GOLGA8H ENST00000566740 human ensembl 74_37 +1 novel missense c.1540 p.Q514E 1.000 NULL NULL - no_errors GOLGA8H HGNC ENSG00000261794 tier1 - - 45 0 0.00 34 6 15.00 GPALPP1 0 genome.wustl.edu 37 13 45602138 45602138 + Silent SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 13 45602138 45602138 A G SNP GPALPP1 ENST00000361121 human ensembl 74_37 +1 known silent c.1023 p.*341 1.000 NULL pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 tier1 - - 153 0 0.00 123 11 8.21 GPR125 0 genome.wustl.edu 37 4 22390436 22390436 + Frame_Shift_Del DEL T T - TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 22390436 22390436 T - DEL GPR125 ENST00000334304 human ensembl 74_37 -1 known frame_shift_del c.2858 p.K953fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 63 0 0.00 12 2 14.29 GPRASP1 0 genome.wustl.edu 37 X 101912226 101912226 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 101912226 101912226 C G SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3385 p.L1129V 0.963 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 tier1 - - 47 0 0.00 9 56 86.15 GRID2 0 genome.wustl.edu 37 4 94128579 94128579 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 94128579 94128579 T C SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.760 p.F254L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 123 0 0.00 83 10 10.75 GUCY1A2 0 genome.wustl.edu 37 11 106856796 106856796 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 106856796 106856796 C G SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.365 p.G122A 1.000 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 85 0 0.00 50 4 7.41 HDAC9 0 genome.wustl.edu 37 7 18688191 18688191 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 18688191 18688191 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.1352 p.R451Q 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 83 0 0.00 67 12 15.19 HERC1 0 genome.wustl.edu 37 15 64010784 64010784 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 64010784 64010784 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.3967 p.R1323W 0.996 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 76 0 0.00 47 11 18.97 HERC2P9 0 genome.wustl.edu 37 15 28929491 28929491 + RNA SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 28929491 28929491 C T SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC ENSG00000206149 56 0 0.00 33 3 8.33 HPS4 0 genome.wustl.edu 37 22 26866727 26866727 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 22 26866727 26866727 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.539 p.R180H 0.999 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 tier1 rs111522254 - 73 0 0.00 47 5 9.62 HUWE1 0 genome.wustl.edu 37 X 53631641 53631641 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 53631641 53631641 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.2651 p.T884N 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 46 0 0.00 36 4 10.00 IFT122 0 genome.wustl.edu 37 3 129218827 129218827 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 129218827 129218827 C A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.2444 p.P815H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 tier1 - - 87 0 0.00 137 48 25.95 INHBE 0 genome.wustl.edu 37 12 57849593 57849593 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 57849593 57849593 G T SNP INHBE ENST00000266646 human ensembl 74_37 +1 known missense c.274 p.V92F 0.994 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu - no_errors INHBE HGNC ENSG00000139269 tier1 - - 51 0 0.00 29 4 12.12 INTS1 0 genome.wustl.edu 37 7 1520578 1520578 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 1520578 1520578 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.4439 p.R1480Q 0.004 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 tier1 - - 26 0 0.00 20 9 31.03 IRAK1BP1 0 genome.wustl.edu 37 6 79577392 79577392 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 79577392 79577392 G T SNP IRAK1BP1 ENST00000369940 human ensembl 74_37 +1 known silent c.99 p.T33 0.001 NULL pfam_DUF541 - no_errors IRAK1BP1 HGNC ENSG00000146243 tier1 - - 120 0 0.00 70 4 5.41 IRS4 0 genome.wustl.edu 37 X 107976076 107976076 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 107976076 107976076 C A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.3499 p.A1167S 0.974 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 tier1 - - 51 0 0.00 10 32 76.19 ITPRIP 0 genome.wustl.edu 37 10 106074980 106074980 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 106074980 106074980 G A SNP ITPRIP ENST00000278071 human ensembl 74_37 -1 known missense c.830 p.A277V 0.000 NULL NULL - no_errors ITPRIP HGNC ENSG00000148841 tier1 - - 27 0 0.00 18 17 48.57 KDM6B 0 genome.wustl.edu 37 17 7748333 7748333 + RNA SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 7748333 7748333 G A SNP KDM6B ENST00000571047 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM6B HGNC ENSG00000132510 tier1 - - 66 0 0.00 37 5 11.90 KLF10 0 genome.wustl.edu 37 8 103663830 103663830 + Nonsense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 103663830 103663830 G A SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known nonsense c.730 p.Q244* 0.148 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 tier1 - - 68 0 0.00 41 32 43.84 KRT33B 0 genome.wustl.edu 37 17 39521427 39521427 + Silent SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 39521427 39521427 C A SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known silent c.876 p.L292 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 tier1 - - 102 0 0.00 70 34 32.69 KTN1 0 genome.wustl.edu 37 14 56078803 56078803 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 56078803 56078803 A G SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.37 p.I13V 1.000 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 tier1 - - 93 0 0.00 70 5 6.67 LAMB1 0 genome.wustl.edu 37 7 107638866 107638866 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 107638866 107638866 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.285 p.L95 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 109 0 0.00 72 56 43.75 LMLN-AS1 0 genome.wustl.edu 37 3 197765629 197765629 + RNA SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 197765629 197765629 G A SNP LMLN-AS1 ENST00000423460 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LMLN-AS1 HGNC ENSG00000232832 tier1 - - 25 0 0.00 30 20 40.00 LNPEP 0 genome.wustl.edu 37 5 96339190 96339190 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 96339190 96339190 C T SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known silent c.1725 p.Y575 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 65 0 0.00 48 4 7.69 LOC101930657 0 genome.wustl.edu 37 1 722023 722023 + RNA DEL T T - TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 722023 722023 T 0 DEL LOC101930657 ENST00000358533 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors RP11-206L10.9 Clone_based_vega_gene ENSG00000237491 13 0 0.00 13 7 35.00 LRP1B 0 genome.wustl.edu 37 2 142567879 142567879 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 142567879 142567879 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.174 p.C58 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 100 0 0.00 49 4 7.55 LRP6 0 genome.wustl.edu 37 12 12284914 12284914 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 12284914 12284914 C T SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known missense c.3811 p.D1271N 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 tier1 - - 50 0 0.00 66 4 5.71 LRRC37A2 0 genome.wustl.edu 37 17 44632542 44632542 + Nonsense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 44632542 44632542 G A SNP LRRC37A2 ENST00000333412 human ensembl 74_37 +1 known nonsense c.4884 p.W1628* 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A2 HGNC ENSG00000238083 tier1 - - 30 0 0.00 15 7 31.82 LTBP1 0 genome.wustl.edu 37 2 33488449 33488449 + Silent SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 33488449 33488449 T C SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.2610 p.T870 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 51 0 0.00 54 4 6.90 MACF1 0 genome.wustl.edu 37 1 39893941 39893941 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 39893941 39893941 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.10599 p.R3533 0.999 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 70 0 0.00 40 4 9.09 MAP3K1 0 genome.wustl.edu 37 5 56152526 56152526 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 56152526 56152526 G A SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.582 p.M194I 1.000 NULL 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,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 - - 85 0 0.00 48 17 26.15 MCM9 0 genome.wustl.edu 37 6 119150251 119150251 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 119150251 119150251 G T SNP MCM9 ENST00000316316 human ensembl 74_37 -1 known missense c.1488 p.D496E 0.998 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC ENSG00000111877 tier1 - - 85 0 0.00 74 4 5.13 MED12L 0 genome.wustl.edu 37 3 150804748 150804748 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 150804748 150804748 G A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.35 p.R12K 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 25 0 0.00 55 4 6.78 MED19 0 genome.wustl.edu 37 11 57472550 57472550 + Silent SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 57472550 57472550 A G SNP MED19 ENST00000431606 human ensembl 74_37 -1 known silent c.369 p.D123 0.995 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 tier1 - - 91 0 0.00 70 13 15.66 MED28 0 genome.wustl.edu 37 4 17634044 17634044 + RNA SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 17634044 17634044 A G SNP MED28 ENST00000499786 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MED28 HGNC ENSG00000118579 tier1 - - 70 0 0.00 20 17 44.74 MEGF8 0 genome.wustl.edu 37 19 42880227 42880227 + Missense_Mutation SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 42880227 42880227 A T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.7838 p.Y2613F 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 - - 23 0 0.00 17 5 22.73 MFAP3L 0 genome.wustl.edu 37 4 170912904 170912904 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 170912904 170912904 C G SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known missense c.855 p.E285D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 32 0 0.00 31 4 11.43 MGA 0 genome.wustl.edu 37 15 42058816 42058816 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 42058816 42058816 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.8536 p.E2846K 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 51 0 0.00 35 6 14.63 MIR125A 0 genome.wustl.edu 37 19 52195962 52195962 + RNA SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 52195962 52195962 C T SNP MIR125A ENST00000602324 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors hsa-mir-125a miRBase ENSG00000269959 tier1 - - 238 0 0.00 107 75 41.21 MLLT10 0 genome.wustl.edu 37 10 21971160 21971160 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 21971160 21971160 C T SNP MLLT10 ENST00000307729 human ensembl 74_37 +1 known missense c.1673 p.S558L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 tier1 - - 88 0 0.00 71 11 13.41 MMRN2 0 genome.wustl.edu 37 10 88702246 88702246 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 88702246 88702246 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.2295 p.N765 0.563 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 tier1 - - 35 0 0.00 18 14 43.75 MORN1 0 genome.wustl.edu 37 1 2290084 2290084 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 2290084 2290084 G T SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known silent c.816 p.V272 0.990 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 tier1 - - 53 0 0.00 16 18 52.94 MRPL10 0 genome.wustl.edu 37 17 45904115 45904115 + Nonsense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 45904115 45904115 G T SNP MRPL10 ENST00000351111 human ensembl 74_37 -1 known nonsense c.420 p.Y140* 0.995 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0 - no_errors MRPL10 HGNC ENSG00000159111 76 0 0.00 47 4 7.84 MT-CO1 0 genome.wustl.edu 37 MT 6010 6010 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba MT 6010 6010 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.107 p.L36P NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 42 0 0.00 49 5 9.26 MT-RNR2 0 genome.wustl.edu 37 MT 3022 3022 + RNA SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba MT 3022 3022 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 121 0 0.00 76 5 6.17 MTOR 0 genome.wustl.edu 37 1 11181417 11181417 + Silent SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 11181417 11181417 C A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known silent c.6819 p.P2273 0.939 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 93 0 0.00 45 4 8.16 MYBPC1 0 genome.wustl.edu 37 12 102046465 102046465 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 102046465 102046465 G T SNP MYBPC1 ENST00000361466 human ensembl 74_37 +1 known missense c.1536 p.K512N 0.903 pfam_Ig_I-set,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 83 0 0.00 71 4 5.33 MYLK 0 genome.wustl.edu 37 3 123333149 123333149 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 123333149 123333149 T C SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.5548 p.R1850G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 62 0 0.00 95 9 8.65 NAALAD2 0 genome.wustl.edu 37 11 89896165 89896165 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 89896165 89896165 C T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known silent c.1038 p.Y346 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 225 0 0.00 73 53 42.06 NAGPA 0 genome.wustl.edu 37 16 5080411 5080411 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 16 5080411 5080411 C T SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known missense c.766 p.A256T 0.034 pfam_DUF2233 pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 36 0 0.00 38 4 9.52 NAV2 0 genome.wustl.edu 37 11 20067055 20067055 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 20067055 20067055 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known silent c.3810 p.N1270 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 47 0 0.00 38 2 5.00 NCF1 0 genome.wustl.edu 37 7 74193766 74193766 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 74193766 74193766 C A SNP NCF1 ENST00000289473 human ensembl 74_37 +1 known missense c.393 p.N131K 0.988 superfamily_Phox pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_P47PHOX - no_errors NCF1 HGNC ENSG00000158517 tier1 - - 89 0 0.00 90 39 30.23 NFATC4 0 genome.wustl.edu 37 14 24845836 24845836 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 24845836 24845836 C T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.2582 p.S861F 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 tier1 - - 79 0 0.00 71 11 13.41 NOL10 0 genome.wustl.edu 37 2 10729208 10729208 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 10729208 10729208 C G SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known missense c.1805 p.R602T 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 31 0 0.00 38 3 7.32 NOP10 0 genome.wustl.edu 37 15 34634302 34634302 + Missense_Mutation SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 34634302 34634302 T A SNP NOP10 ENST00000328848 human ensembl 74_37 -1 known missense c.62 p.D21V 0.726 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC ENSG00000182117 tier1 - - 151 0 0.00 88 13 12.75 NOP10 0 genome.wustl.edu 37 15 34634303 34634303 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 34634303 34634303 C A SNP NOP10 ENST00000328848 human ensembl 74_37 -1 known missense c.61 p.D21Y 0.364 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 pfam_H/ACA_rnp_Nop10,superfamily_H/ACA_rnp_Nop10 - no_errors NOP10 HGNC ENSG00000182117 tier1 - - 148 0 0.00 88 13 12.87 NOS1 0 genome.wustl.edu 37 12 117718598 117718598 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 117718598 117718598 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1456 p.R486C 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 137 0 0.00 100 13 11.50 NSMCE1 0 genome.wustl.edu 37 16 27268881 27268881 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 16 27268881 27268881 C T SNP NSMCE1 ENST00000361439 human ensembl 74_37 -1 known missense c.11 p.S4N 0.001 NULL pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING - no_errors NSMCE1 HGNC ENSG00000169189 tier1 - - 49 0 0.00 73 4 5.19 OCA2 0 genome.wustl.edu 37 15 28171314 28171314 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 28171314 28171314 C T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2038 p.A680T 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 59 0 0.00 51 4 7.14 OPA1-AS1 0 genome.wustl.edu 37 3 193336595 193336595 + RNA SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 193336595 193336595 G C SNP OPA1-AS1 ENST00000433105 human ensembl 74_37 -1 known rna NULL NULL 0.464 - - - no_errors OPA1-AS1 HGNC ENSG00000224855 tier1 - - 55 0 0.00 84 5 5.56 OR2L8 0 genome.wustl.edu 37 1 248112321 248112321 + Silent SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 248112321 248112321 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known silent c.162 p.L54 0.656 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 tier1 - - 160 0 0.00 153 17 10.00 OR2Z1 0 genome.wustl.edu 37 19 8841798 8841798 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 8841798 8841798 G T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.408 p.M136I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Z1 HGNC ENSG00000181733 33 0 0.00 27 2 6.90 OR5L2 0 genome.wustl.edu 37 11 55595538 55595538 + Missense_Mutation SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 55595538 55595538 A T SNP OR5L2 ENST00000378397 human ensembl 74_37 +1 known missense c.844 p.I282F 0.651 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L2 HGNC ENSG00000205030 51 0 0.00 22 2 8.33 ORM2 0 genome.wustl.edu 37 9 117092701 117092701 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 117092701 117092701 C A SNP ORM2 ENST00000412657 human ensembl 74_37 +1 known missense c.517 p.P173T 0.000 NULL NULL - no_errors ORM2 HGNC ENSG00000228278 tier1 rs117654479 - 64 0 0.00 6 4 40.00 OTOGL 0 genome.wustl.edu 37 12 80730335 80730335 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 80730335 80730335 G T SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.4716 p.Q1572H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 tier1 - - 54 0 0.00 45 4 8.16 PCDH15 0 genome.wustl.edu 37 10 55582697 55582697 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 55582697 55582697 G A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known silent c.4789 p.L1597 0.950 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 53 0 0.00 54 6 10.00 PCDHA8 0 genome.wustl.edu 37 5 140223323 140223323 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 140223323 140223323 C A SNP PCDHA8 ENST00000378123 human ensembl 74_37 +1 known missense c.2417 p.T806N 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 - - 103 0 0.00 43 30 41.10 PDHA2 0 genome.wustl.edu 37 4 96762268 96762268 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 96762268 96762268 G T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.967 p.V323L 0.314 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 76 0 0.00 44 14 24.14 PDLIM7 0 genome.wustl.edu 37 5 176919672 176919672 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 176919672 176919672 G T SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.103 p.P35T 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 tier1 - - 27 0 0.00 12 3 20.00 PGLYRP1 0 genome.wustl.edu 37 19 46522790 46522790 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 46522790 46522790 A G SNP PGLYRP1 ENST00000008938 human ensembl 74_37 -1 known missense c.403 p.Y135H 0.993 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 tier1 - - 102 0 0.00 49 28 36.36 PHF8 0 genome.wustl.edu 37 X 54040940 54040940 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 54040940 54040940 T C SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.761 p.N254S 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 tier1 - - 48 0 0.00 49 9 15.52 PIEZO2 0 genome.wustl.edu 37 18 10760966 10760966 + Silent SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 18 10760966 10760966 T C SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known silent c.3360 p.G1120 0.980 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 139 0 0.00 96 11 10.28 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 tier1 rs104886003 - 106 0 0.00 172 36 17.31 PKHD1L1 0 genome.wustl.edu 37 8 110534995 110534995 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 110534995 110534995 G T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.12206 p.R4069M 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 37 0 0.00 33 2 5.71 PLXNA2 0 genome.wustl.edu 37 1 208315706 208315706 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 208315706 208315706 G T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.1474 p.Q492K 1.000 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 tier1 - - 110 0 0.00 88 6 6.38 PNMA2 0 genome.wustl.edu 37 8 26366267 26366267 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 26366267 26366267 G T SNP PNMA2 ENST00000522362 human ensembl 74_37 -1 known missense c.5 p.A2E 0.946 NULL pfam_Retrotrans_gag_dom - no_errors PNMA2 HGNC ENSG00000240694 tier1 - - 53 0 0.00 33 4 10.81 PNOC 0 genome.wustl.edu 37 8 28196744 28196744 + Missense_Mutation SNP T T G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 28196744 28196744 T G SNP PNOC ENST00000301908 human ensembl 74_37 +1 known missense c.314 p.F105C 0.733 NULL pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept - no_errors PNOC HGNC ENSG00000168081 tier1 - - 44 0 0.00 29 6 17.14 PNPO 0 genome.wustl.edu 37 17 46019112 46019112 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 46019112 46019112 A G SNP PNPO ENST00000225573 human ensembl 74_37 +1 known missense c.71 p.H24R 0.010 NULL pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC ENSG00000108439 tier1 - - 22 0 0.00 14 18 56.25 PREPL 0 genome.wustl.edu 37 2 44553863 44553863 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 44553863 44553863 C T SNP PREPL ENST00000260648 human ensembl 74_37 -1 known silent c.1734 p.A578 0.151 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 62 0 0.00 57 3 5.00 PRF1 0 genome.wustl.edu 37 10 72358262 72358262 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 72358262 72358262 C A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.1215 p.Q405H 0.000 superfamily_C2_dom pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 - - 46 0 0.00 28 8 22.22 PRICKLE1 0 genome.wustl.edu 37 12 42854063 42854063 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 42854063 42854063 G T SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.2044 p.R682S 1.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 74 0 0.00 76 4 5.00 PRKCA 0 genome.wustl.edu 37 17 64800090 64800090 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 64800090 64800090 G T SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known missense c.1954 p.D652Y 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 tier1 - - 102 0 0.00 74 6 7.41 PRMT8 0 genome.wustl.edu 37 12 3702562 3702562 + RNA SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 3702562 3702562 G A SNP PRMT8 ENST00000261252 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 13 0 0.00 9 5 35.71 PRUNE2 0 genome.wustl.edu 37 9 79326063 79326063 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 79326063 79326063 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.50 p.A17V 0.998 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 61 0 0.00 35 2 5.41 PSD4 0 genome.wustl.edu 37 2 113943280 113943280 + RNA SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 113943280 113943280 G T SNP PSD4 ENST00000485525 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 81 0 0.00 44 21 31.34 PSMA6 0 genome.wustl.edu 37 14 35783624 35783624 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 35783624 35783624 G A SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.646 p.E216K 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 tier1 - - 65 0 0.00 61 8 11.59 PTCH1 0 genome.wustl.edu 37 9 98239986 98239986 + Splice_Site SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 98239986 98239986 T A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known splice_site c.1348-2 e10-2 1.000 - - - no_errors PTCH1 HGNC ENSG00000185920 tier1 - - 78 0 0.00 6 40 86.96 PTENP1 0 genome.wustl.edu 37 9 33676991 33676992 + RNA INS - - CCGA TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 33676991 33676992 - CCGA INS PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.091:0.087 - - - no_errors PTENP1 HGNC ENSG00000237984 tier1 12 0 0.00 2 5 71.43 PTPN2 0 genome.wustl.edu 37 18 12802116 12802116 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 18 12802116 12802116 G C SNP PTPN2 ENST00000309660 human ensembl 74_37 -1 known missense c.893 p.S298C 0.430 pirsf_Ptpn1/Ptpn2 pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 tier1 - - 60 0 0.00 51 6 10.53 PTPRT 0 genome.wustl.edu 37 20 41100980 41100980 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 20 41100980 41100980 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1376 p.R459Q 0.970 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 81 0 0.00 34 24 41.38 RABGAP1L 0 genome.wustl.edu 37 1 174606588 174606588 + Nonsense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 174606588 174606588 G T SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known nonsense c.1786 p.G596* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 105 0 0.00 57 24 29.63 RABGAP1L 0 genome.wustl.edu 37 1 174606589 174606589 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 174606589 174606589 G T SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.1787 p.G596V 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 106 0 0.00 59 24 28.92 RALGPS2 0 genome.wustl.edu 37 1 178780524 178780524 + Silent SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 178780524 178780524 T C SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known silent c.372 p.Y124 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 189 0 0.00 159 35 18.04 RALGPS2 0 genome.wustl.edu 37 1 178848093 178848093 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 178848093 178848093 G C SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.802 p.E268Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 93 0 0.00 88 8 8.33 RALGPS2 0 genome.wustl.edu 37 1 178848102 178848102 + Missense_Mutation SNP A A C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 178848102 178848102 A C SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known missense c.811 p.K271Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 tier1 - - 95 0 0.00 88 7 7.37 RASGRP1 0 genome.wustl.edu 37 15 38852065 38852065 + Silent SNP T T A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 38852065 38852065 T A SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known silent c.177 p.G59 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 tier1 - - 77 0 0.00 38 23 37.70 RCN1 0 genome.wustl.edu 37 11 32119956 32119956 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 32119956 32119956 G A SNP RCN1 ENST00000054950 human ensembl 74_37 +1 known missense c.509 p.R170H 0.998 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN1 HGNC ENSG00000049449 93 0 0.00 54 3 5.26 RER1 0 genome.wustl.edu 37 1 2330933 2330933 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 2330933 2330933 C T SNP RER1 ENST00000488353 human ensembl 74_37 +1 known missense c.266 p.P89L 1.000 pfam_Rer1,pirsf_Rer1 pfam_Rer1,pirsf_Rer1 - no_errors RER1 HGNC ENSG00000157916 tier1 - - 88 0 0.00 75 9 10.59 RIMS2 0 genome.wustl.edu 37 8 105261014 105261014 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 105261014 105261014 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3562 p.R1188C 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 68 0 0.00 44 9 16.98 RIN1 0 genome.wustl.edu 37 11 66100109 66100109 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 66100109 66100109 G T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known silent c.1990 p.R664 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 tier1 - - 83 0 0.00 68 12 15.00 RLIM 0 genome.wustl.edu 37 X 73812330 73812330 + Nonsense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 73812330 73812330 G A SNP RLIM ENST00000332687 human ensembl 74_37 -1 known nonsense c.820 p.Q274* 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 22 0 0.00 28 4 12.50 RN7SL469P 0 genome.wustl.edu 37 15 30436027 30436027 + RNA SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 30436027 30436027 A T SNP RN7SL469P ENST00000491512 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RN7SL469P HGNC ENSG00000241167 tier1 - - 23 0 0.00 31 6 16.22 RPL3L 0 genome.wustl.edu 37 16 1994875 1994875 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 16 1994875 1994875 A G SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known missense c.1187 p.L396P 0.986 NULL pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 tier1 - - 60 0 0.00 54 4 6.90 RPN2 0 genome.wustl.edu 37 20 35864999 35864999 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 20 35864999 35864999 G T SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.1770 p.M590I 1.000 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 tier1 - - 37 0 0.00 43 21 32.81 RPS13 0 genome.wustl.edu 37 11 17098716 17098716 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 11 17098716 17098716 G A SNP RPS13 ENST00000525634 human ensembl 74_37 -1 known silent c.150 p.I50 0.999 pfam_Ribosomal_S13/S15_N pfam_Ribosomal_S13/S15_N,pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors RPS13 HGNC ENSG00000110700 tier1 - - 35 0 0.00 32 4 11.11 RUNX1 0 genome.wustl.edu 37 21 36259190 36259190 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 21 36259190 36259190 C T SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known missense c.301 p.V101M 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 95 0 0.00 57 4 6.56 SEMA3A 0 genome.wustl.edu 37 7 83640589 83640589 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 83640589 83640589 G C SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.835 p.L279V 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 94 0 0.00 81 8 8.99 SLC35A4 0 genome.wustl.edu 37 5 139946715 139946715 + RNA SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 139946715 139946715 A G SNP SLC35A4 ENST00000508770 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC35A4 HGNC ENSG00000176087 tier1 - - 33 0 0.00 11 6 35.29 SLC39A8 0 genome.wustl.edu 37 4 103236927 103236927 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 103236927 103236927 T C SNP SLC39A8 ENST00000356736 human ensembl 74_37 -1 known missense c.280 p.S94G 1.000 NULL pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 tier1 - - 144 0 0.00 40 51 55.43 SOX13 0 genome.wustl.edu 37 1 204093838 204093838 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 204093838 204093838 G A SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.1445 p.R482Q 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 99 0 0.00 76 4 5.00 SP140L 0 genome.wustl.edu 37 2 231266421 231266421 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 231266421 231266421 G C SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.1543 p.D515H 0.990 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 tier1 - - 110 0 0.00 98 12 10.91 SPAG1 0 genome.wustl.edu 37 8 101196196 101196196 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 101196196 101196196 G C SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.501 p.E167D 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 tier1 - - 153 0 0.00 163 14 7.91 SPATA18 0 genome.wustl.edu 37 4 52917943 52917943 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 52917943 52917943 C T SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known silent c.73 p.L25 0.132 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 tier1 - - 161 0 0.00 58 22 27.50 SPATA31D1 0 genome.wustl.edu 37 9 84607398 84607398 + Silent SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 84607398 84607398 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2013 p.S671 0.006 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 193 0 0.00 123 16 11.51 SPEF2 0 genome.wustl.edu 37 5 35709102 35709102 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 35709102 35709102 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.2718 p.L906 0.000 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 75 0 0.00 57 4 6.56 SPO11 0 genome.wustl.edu 37 20 55904959 55904959 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 20 55904959 55904959 C T SNP SPO11 ENST00000371263 human ensembl 74_37 +1 known silent c.36 p.F12 0.964 pfam_Meiosis_Spo11,prints_Meiotic_Spo11 pfam_Meiosis_Spo11,pfam_Spo11/TopoVI_A_N,superfamily_Spo11/TopoVI_A,prints_Meiotic_Spo11,prints_Spo11/TopoVI_A,prints_TopoVI_A - no_errors SPO11 HGNC ENSG00000054796 tier1 - - 172 0 0.00 163 19 10.44 SPTBN4 0 genome.wustl.edu 37 19 41074109 41074109 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 41074109 41074109 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.6877 p.R2293C 0.400 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 63 0 0.00 42 4 8.51 STXBP5L 0 genome.wustl.edu 37 3 121100248 121100248 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 121100248 121100248 G A SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.2528 p.R843Q 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 tier1 - - 121 0 0.00 128 56 30.43 SUPT6H 0 genome.wustl.edu 37 17 27014397 27014397 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 27014397 27014397 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.2914 p.D972Y 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 51 0 0.00 67 4 5.63 SYNE2 0 genome.wustl.edu 37 14 64678706 64678706 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 64678706 64678706 G C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.18751 p.E6251Q 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 tier1 - - 123 0 0.00 92 8 7.92 TBXA2R 0 genome.wustl.edu 37 19 3595700 3595700 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 3595700 3595700 A G SNP TBXA2R ENST00000375190 human ensembl 74_37 -1 known missense c.1018 p.S340P 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 tier1 - - 50 0 0.00 31 29 47.54 TEX261 0 genome.wustl.edu 37 2 71220847 71220847 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 71220847 71220847 C G SNP TEX261 ENST00000272438 human ensembl 74_37 -1 known missense c.129 p.R43S 0.999 pfam_Transmembrane_adaptor_Erv26 pfam_Transmembrane_adaptor_Erv26 - no_errors TEX261 HGNC ENSG00000144043 tier1 - - 38 0 0.00 47 4 7.84 TIMM17B 0 genome.wustl.edu 37 X 48751196 48751196 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 48751196 48751196 C T SNP TIMM17B ENST00000396779 human ensembl 74_37 -1 known silent c.567 p.Q189 1.000 NULL pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM17B HGNC ENSG00000126768 66 0 0.00 76 4 5.00 TLR4 0 genome.wustl.edu 37 9 120476760 120476760 + Missense_Mutation SNP T T G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 9 120476760 120476760 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.2354 p.L785R 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 34 0 0.00 23 6 20.69 TMEM229A 0 genome.wustl.edu 37 7 123671981 123671981 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 123671981 123671981 G T SNP TMEM229A ENST00000455783 human ensembl 74_37 -1 known missense c.1077 p.F359L 1.000 NULL NULL - no_errors TMEM229A HGNC ENSG00000234224 tier1 - - 100 0 0.00 53 35 39.77 TMEM232 0 genome.wustl.edu 37 5 109904177 109904177 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 5 109904177 109904177 G T SNP TMEM232 ENST00000429839 human ensembl 74_37 -1 known silent c.1426 p.R476 0.005 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 69 0 0.00 38 2 5.00 TMEM47 0 genome.wustl.edu 37 X 34648476 34648476 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 34648476 34648476 G A SNP TMEM47 ENST00000275954 human ensembl 74_37 -1 known missense c.500 p.A167V 1.000 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 tier1 - - 73 0 0.00 15 29 65.91 TP53 0 genome.wustl.edu 37 17 7578556 7578556 + Splice_Site SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 7578556 7578556 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.376-2 e4-2 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 28 0 0.00 4 5 55.56 TRAPPC3 0 genome.wustl.edu 37 1 36602741 36602741 + RNA SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 36602741 36602741 G A SNP TRAPPC3 ENST00000462715 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TRAPPC3 HGNC ENSG00000054116 tier1 - - 52 0 0.00 42 7 14.29 TREML2 0 genome.wustl.edu 37 6 41168696 41168696 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 41168696 41168696 G A SNP TREML2 ENST00000483722 human ensembl 74_37 -1 known silent c.51 p.V17 0.691 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors TREML2 HGNC ENSG00000112195 tier1 - - 95 0 0.00 58 10 14.71 TRIM9 0 genome.wustl.edu 37 14 51561511 51561511 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 14 51561511 51561511 G T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.147 p.S49R 1.000 smart_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 186 0 0.00 61 100 61.73 TTBK1 0 genome.wustl.edu 37 6 43230870 43230870 + Missense_Mutation SNP G G C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 6 43230870 43230870 G C SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.1768 p.E590Q 0.324 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 tier1 - - 19 0 0.00 12 4 25.00 UBR4 0 genome.wustl.edu 37 1 19478158 19478158 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 19478158 19478158 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.7192 p.D2398N 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 46 0 0.00 30 4 11.76 UGGT1 0 genome.wustl.edu 37 2 128900707 128900707 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 128900707 128900707 G A SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.1759 p.E587K 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 139 0 0.00 109 32 22.70 UNC45A 0 genome.wustl.edu 37 15 91489925 91489925 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 15 91489925 91489925 C T SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known silent c.1281 p.D427 0.078 pfam_UNC-45/Ring3,superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 tier1 - - 34 0 0.00 18 14 43.75 USH2A 0 genome.wustl.edu 37 1 216595333 216595333 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 216595333 216595333 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.346 p.L116 0.139 NULL pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 71 0 0.00 61 15 19.74 UTP3 0 genome.wustl.edu 37 4 71554831 71554831 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 71554831 71554831 G A SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.437 p.R146Q 0.600 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 44 0 0.00 43 13 23.21 UTP3 0 genome.wustl.edu 37 4 71554832 71554832 + Silent SNP A A T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 4 71554832 71554832 A T SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known silent c.438 p.R146 0.480 NULL pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 43 0 0.00 43 14 24.56 UTS2B 0 genome.wustl.edu 37 3 190999931 190999931 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 3 190999931 190999931 C G SNP UTS2B ENST00000446788 human ensembl 74_37 -1 known missense c.48 p.L16F 0.011 NULL NULL - no_errors UTS2B HGNC ENSG00000188958 tier1 - - 100 0 0.00 166 10 5.68 VSIG10 0 genome.wustl.edu 37 12 118506398 118506398 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 12 118506398 118506398 G T SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1351 p.Q451K 0.998 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG10 HGNC ENSG00000176834 37 0 0.00 40 3 6.98 WDR13 0 genome.wustl.edu 37 X 48455969 48455970 + RNA INS - - G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba X 48455969 48455970 - G INS WDR13 ENST00000471334 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors WDR13 HGNC ENSG00000101940 tier1 35 0 0.00 19 2 9.52 WDSUB1 0 genome.wustl.edu 37 2 160114319 160114320 + Frame_Shift_Ins INS - - T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 2 160114319 160114320 - T INS WDSUB1 ENST00000359774 human ensembl 74_37 -1 known frame_shift_ins c.902_901 p.M301fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 tier1 62 0 0.00 22 27 55.10 WHSC1L1 0 genome.wustl.edu 37 8 38133346 38133346 + Missense_Mutation SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 8 38133346 38133346 G T SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.4127 p.S1376Y 0.996 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 tier1 - - 66 0 0.00 47 4 7.84 WIPI1 0 genome.wustl.edu 37 17 66422248 66422248 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 17 66422248 66422248 C T SNP WIPI1 ENST00000262139 human ensembl 74_37 -1 known missense c.1261 p.V421M 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI1 HGNC ENSG00000070540 tier1 - - 50 0 0.00 44 4 8.33 YWHAG 0 genome.wustl.edu 37 7 75959019 75959019 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 7 75959019 75959019 C T SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known missense c.619 p.E207K 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAG HGNC ENSG00000170027 tier1 - - 40 0 0.00 39 4 9.30 ZC3H13 0 genome.wustl.edu 37 13 46549821 46549821 + Silent SNP G G T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 13 46549821 46549821 G T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known silent c.2065 p.R689 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 54 0 0.00 45 5 10.00 ZEB1 0 genome.wustl.edu 37 10 31661980 31661980 + Missense_Mutation SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 10 31661980 31661980 G A SNP ZEB1 ENST00000437844 human ensembl 74_37 +1 known missense c.92 p.R31Q 1.000 NULL NULL - no_errors ZEB1 HGNC ENSG00000148516 tier1 - - 34 0 0.00 15 3 16.67 ZFYVE9 0 genome.wustl.edu 37 1 52798576 52798576 + Missense_Mutation SNP A A C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 1 52798576 52798576 A C SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.3575 p.N1192T 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 60 0 0.00 33 7 17.50 ZNF135 0 genome.wustl.edu 37 19 58578438 58578438 + Missense_Mutation SNP A A G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 58578438 58578438 A G SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.658 p.R220G 0.372 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 ZNF135 HGNC ENSG00000176293 71 0 0.00 67 4 5.63 ZNF260 0 genome.wustl.edu 37 19 37005062 37005062 + Missense_Mutation SNP T T C TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 37005062 37005062 T C SNP ZNF260 ENST00000523638 human ensembl 74_37 -1 known missense c.1079 p.Y360C 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF260 HGNC ENSG00000254004 tier1 - - 73 0 0.00 68 4 5.56 ZNF343 0 genome.wustl.edu 37 20 2465211 2465211 + Silent SNP G G A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 20 2465211 2465211 G A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known silent c.396 p.F132 0.049 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 ZNF343 HGNC ENSG00000088876 48 0 0.00 52 5 8.77 ZNF440 0 genome.wustl.edu 37 19 11943541 11943541 + Missense_Mutation SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 11943541 11943541 C T SNP ZNF440 ENST00000304060 human ensembl 74_37 +1 known missense c.1550 p.A517V 0.051 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 ZNF440 HGNC ENSG00000171295 tier1 rs201343885 - 76 0 0.00 71 5 6.58 ZNF627 0 genome.wustl.edu 37 19 11728170 11728170 + Silent SNP C C T TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 11728170 11728170 C T SNP ZNF627 ENST00000361113 human ensembl 74_37 +1 known silent c.852 p.C284 0.988 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 ZNF627 HGNC ENSG00000198551 63 0 0.00 74 4 5.13 ZNF737 0 genome.wustl.edu 37 19 20728081 20728081 + Missense_Mutation SNP C C G TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e188d2cf-acf6-47b6-8120-3da5e16bb66e 2e2aac49-5d2c-4ebd-aead-33db1811eaba 19 20728081 20728081 C G SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.928 p.E310Q 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 tier1 - - 74 0 0.00 44 9 16.98