Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA2 0 genome.wustl.edu 37 9 139910561 139910561 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 139910561 139910561 C T SNP ABCA2 ENST00000265662 human ensembl 69_37n -1 known missense c.3170 p.R1057H 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 61 0 0.00 55 24 30.38 - - - ACOT9 0 genome.wustl.edu 37 X 23723973 23723973 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 23723973 23723973 G C SNP ACOT9 ENST00000379303 human ensembl 69_37n -1 known missense c.845 p.T282S 1.000 NULL pfam_Thioestr_supf - no_errors ACOT9 HGNC ENSG00000123130 69 0 0.00 66 28 29.79 - - - ADAM19 0 genome.wustl.edu 37 5 156934141 156934141 + Missense_Mutation SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 156934141 156934141 A G SNP ADAM19 ENST00000394020 human ensembl 69_37n -1 known missense c.919 p.S307P 0.707 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 23 0 0.00 10 6 37.50 - - - AGBL4 0 genome.wustl.edu 37 1 49052811 49052811 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 49052811 49052811 C G SNP AGBL4 ENST00000371839 human ensembl 69_37n -1 known missense c.1132 p.V378L 0.998 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC ENSG00000186094 37 0 0.00 27 18 40.00 - - - ALDH1L2 0 genome.wustl.edu 37 12 105418256 105418256 + Silent SNP A A C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 105418256 105418256 A C SNP ALDH1L2 ENST00000258494 human ensembl 69_37n -1 known silent c.2718 p.G906 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 41 0 0.00 30 14 31.82 - - - ANGPTL3 0 genome.wustl.edu 37 1 63069994 63069994 + RNA DEL A A - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 63069994 63069994 A - DEL ANGPTL3 ENST00000493994 human ensembl 69_37n +1 putative rna NULL NULL 0.617 - - - no_errors ANGPTL3 HGNC ENSG00000132855 23 0 0.00 19 11 35.48 - - - ANK2 0 genome.wustl.edu 37 4 114277295 114277295 + Silent SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 4 114277295 114277295 C T SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known silent c.7521 p.S2507 0.922 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 23 0 0.00 19 5 20.83 - - - ANKRD39 0 genome.wustl.edu 37 2 97514138 97514138 + Missense_Mutation SNP T T A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 97514138 97514138 T A SNP ANKRD39 ENST00000393537 human ensembl 69_37n -1 known missense c.452 p.Q151L 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD39 HGNC ENSG00000213337 56 0 0.00 35 20 36.36 - - - ARFGAP1 0 genome.wustl.edu 37 20 61907911 61907911 + Nonsense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 61907911 61907911 C T SNP ARFGAP1 ENST00000353546 human ensembl 69_37n +1 known nonsense c.250 p.R84* 1.000 pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 67 0 0.00 80 32 28.57 - - - ARHGAP26 0 genome.wustl.edu 37 5 142526879 142526879 + Missense_Mutation SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 142526879 142526879 T G SNP ARHGAP26 ENST00000274498 human ensembl 69_37n +1 known missense c.1921 p.L641V 0.700 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 35 0 0.00 33 14 29.79 - - - ARHGAP6 0 genome.wustl.edu 37 X 11206927 11206927 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 11206927 11206927 G C SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known missense c.998 p.S333C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 57 0 0.00 37 34 47.89 - - - BAIAP3 0 genome.wustl.edu 37 16 1395284 1395284 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 16 1395284 1395284 G T SNP BAIAP3 ENST00000324385 human ensembl 69_37n +1 known missense c.2080 p.A694S 0.001 NULL pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors BAIAP3 HGNC ENSG00000007516 60 0 0.00 60 32 34.78 - - - BCAN 0 genome.wustl.edu 37 1 156615885 156615885 + Silent SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 156615885 156615885 C A SNP BCAN ENST00000329117 human ensembl 69_37n +1 known silent c.39 p.V13 0.103 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 73 0 0.00 50 23 31.51 - - - BCAN 0 genome.wustl.edu 37 1 156615886 156615886 + Missense_Mutation SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 156615886 156615886 C A SNP BCAN ENST00000329117 human ensembl 69_37n +1 known missense c.40 p.L14M 0.122 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 73 0 0.00 50 23 31.51 - - - C15orf55 0 genome.wustl.edu 37 15 34640421 34640421 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 15 34640421 34640421 G T SNP C15orf55 ENST00000333756 human ensembl 69_37n +1 known missense c.268 p.V90F 0.994 NULL NULL - no_errors C15orf55 HGNC ENSG00000184507 28 0 0.00 19 10 34.48 - - - C9orf174 0 genome.wustl.edu 37 9 100127907 100127907 + RNA SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 100127907 100127907 G T SNP C9orf174 ENST00000483504 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors C9orf174 HGNC ENSG00000197816 103 0 0.00 75 26 25.74 - - - CCDC144A 0 genome.wustl.edu 37 17 16638398 16638398 + Missense_Mutation SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 16638398 16638398 T C SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.2813 p.L938P 0.992 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 74 0 0.00 39 30 43.48 - - - CCDC85A 0 genome.wustl.edu 37 2 56420533 56420533 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 56420533 56420533 G A SNP CCDC85A ENST00000407595 human ensembl 69_37n +1 known missense c.1198 p.D400N 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 77 0 0.00 46 24 34.29 - - - CDH1 0 genome.wustl.edu 37 16 68856094 68856094 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 16 68856094 68856094 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known silent c.1902 p.A634 0.170 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 43 0 0.00 23 7 23.33 - - - CDH17 0 genome.wustl.edu 37 8 95164236 95164236 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 8 95164236 95164236 C G SNP CDH17 ENST00000027335 human ensembl 69_37n -1 known missense c.1656 p.K552N 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH17 HGNC ENSG00000079112 83 0 0.00 88 27 23.48 - - - CIZ1 0 genome.wustl.edu 37 9 130942759 130942759 + Frame_Shift_Del DEL T T - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 130942759 130942759 T - DEL CIZ1 ENST00000538431 human ensembl 69_37n -1 known frame_shift_del c.726 p.K242fs 0.001 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 53 0 0.00 28 19 40.43 - - - CREB1 0 genome.wustl.edu 37 2 208441407 208441407 + RNA SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 208441407 208441407 G A SNP CREB1 ENST00000494983 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors CREB1 HGNC ENSG00000118260 33 0 0.00 28 21 42.86 - - - CSF1R 0 genome.wustl.edu 37 5 149450043 149450043 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 149450043 149450043 G A SNP CSF1R ENST00000286301 human ensembl 69_37n -1 known silent c.1174 p.L392 0.586 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors CSF1R HGNC ENSG00000182578 57 0 0.00 36 19 34.55 - - - CSNK2A1 0 genome.wustl.edu 37 20 472933 472934 + Frame_Shift_Ins INS - - C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 472933 472934 - C INS CSNK2A1 ENST00000217244 human ensembl 69_37n -1 known frame_shift_ins c.586_585 p.Y195fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CSNK2A1 HGNC ENSG00000101266 27 0 0.00 27 6 18.18 - - - CST9L 0 genome.wustl.edu 37 20 23546647 23546647 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 23546647 23546647 G A SNP CST9L ENST00000376979 human ensembl 69_37n -1 known silent c.318 p.D106 0.380 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 107 0 0.00 65 14 17.72 - - - CST9L 0 genome.wustl.edu 37 20 23546655 23546655 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 23546655 23546655 C T SNP CST9L ENST00000376979 human ensembl 69_37n -1 known missense c.310 p.D104N 0.000 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 103 0 0.00 57 13 18.57 - - - CTTNBP2 0 genome.wustl.edu 37 7 117450855 117450855 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 117450855 117450855 G A SNP CTTNBP2 ENST00000160373 human ensembl 69_37n -1 known silent c.378 p.S126 0.988 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 74 0 0.00 63 12 16.00 - - - DACT2 0 genome.wustl.edu 37 6 168708999 168708999 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 168708999 168708999 G C SNP DACT2 ENST00000366795 human ensembl 69_37n -1 known missense c.1438 p.H480D 0.014 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 53 0 0.00 14 26 65.00 - - - DACT2 0 genome.wustl.edu 37 6 168709000 168709000 + Silent SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 168709000 168709000 G T SNP DACT2 ENST00000366795 human ensembl 69_37n -1 known silent c.1437 p.A479 0.014 NULL NULL - no_errors DACT2 HGNC ENSG00000164488 53 0 0.00 14 25 64.10 - - - DNAH10 0 genome.wustl.edu 37 12 124414288 124414288 + Silent SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 124414288 124414288 C G SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known silent c.12240 p.L4080 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 15 0 0.00 20 10 33.33 - - - ECD 0 genome.wustl.edu 37 10 74923576 74923576 + Silent SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 10 74923576 74923576 C T SNP ECD ENST00000430082 human ensembl 69_37n -1 known silent c.120 p.E40 0.140 pfam_SGT1 pfam_SGT1 - no_errors ECD HGNC ENSG00000122882 47 0 0.00 29 17 36.96 - - - EHD3 0 genome.wustl.edu 37 2 31489541 31489541 + Frame_Shift_Del DEL C C - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 31489541 31489541 C - DEL EHD3 ENST00000322054 human ensembl 69_37n +1 known frame_shift_del c.1579 p.P528fs 1.000 smart_EPS15_homology,pfscan_EPS15_homology pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 49 0 0.00 32 24 42.86 - - - EHMT2 0 genome.wustl.edu 37 6 31855981 31855981 + Missense_Mutation SNP T T A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 31855981 31855981 T A SNP EHMT2 ENST00000395728 human ensembl 69_37n -1 known missense c.1753 p.N585Y 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 21 0 0.00 12 7 36.84 - - - EMILIN3 0 genome.wustl.edu 37 20 39990702 39990702 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 39990702 39990702 C G SNP EMILIN3 ENST00000332312 human ensembl 69_37n -1 known missense c.1507 p.V503L 0.488 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 18 0 0.00 34 18 34.62 - - - EPHA5 0 genome.wustl.edu 37 4 66280012 66280012 + Silent SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 4 66280012 66280012 G T SNP EPHA5 ENST00000273854 human ensembl 69_37n -1 known silent c.1677 p.T559 1.000 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 33 0 0.00 22 4 15.38 - - - FAF2 0 genome.wustl.edu 37 5 175875473 175875473 + Splice_Site SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 175875473 175875473 T G SNP FAF2 ENST00000261942 human ensembl 69_37n +1 known splice_site c.63+2 e1+2 1.000 - - - no_errors FAF2 HGNC ENSG00000113194 78 0 0.00 38 32 45.71 - - - FAT1 0 genome.wustl.edu 37 4 187539493 187539493 + Missense_Mutation SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 4 187539493 187539493 C A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.8247 p.E2749D 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 25 0 0.00 27 13 32.50 - - - FAT2 0 genome.wustl.edu 37 5 150922996 150922998 + In_Frame_Del DEL TCC TCC - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 150922996 150922998 TCC - DEL FAT2 ENST00000261800 human ensembl 69_37n -1 known in_frame_del c.7692_7690 p.G2564in_frame_del 0.946:1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 64 0 0.00 30 13 30.23 - - - FLJ44006 0 genome.wustl.edu 37 2 111858020 111858020 + RNA SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 111858020 111858020 C T SNP FLJ44006 ENST00000376593 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors AC096670.3 Clone_based_vega_gene ENSG00000204581 33 0 0.00 16 11 40.74 - - - FOXD3 0 genome.wustl.edu 37 1 63789409 63789409 + Missense_Mutation SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 63789409 63789409 A G SNP FOXD3 ENST00000371116 human ensembl 69_37n +1 known missense c.680 p.N227S 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD3 HGNC ENSG00000187140 85 0 0.00 64 34 34.69 - - - GABRR3 0 genome.wustl.edu 37 3 97753780 97753780 + Missense_Mutation SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 97753780 97753780 T C SNP GABRR3 ENST00000472788 human ensembl 69_37n -1 known missense c.52 p.K18E 0.001 NULL NULL - pseudogene GABRR3 HGNC ENSG00000183185 48 0 0.00 46 12 20.69 - - - GPR116 0 genome.wustl.edu 37 6 46847554 46847554 + Splice_Site SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 46847554 46847554 C A SNP GPR116 ENST00000265417 human ensembl 69_37n -1 known splice_site c.1036+1 e8+1 0.983 - - - no_errors GPR116 HGNC ENSG00000069122 59 0 0.00 49 32 39.51 - - - GPR137B 0 genome.wustl.edu 37 1 236341763 236341763 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 236341763 236341763 G C SNP GPR137B ENST00000366592 human ensembl 69_37n +1 known missense c.514 p.V172L 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 119 0 0.00 157 26 14.21 - - - GPR39 0 genome.wustl.edu 37 2 133402929 133402929 + Missense_Mutation SNP A A T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 133402929 133402929 A T SNP GPR39 ENST00000329321 human ensembl 69_37n +1 known missense c.1112 p.E371V 0.502 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 24 0 0.00 15 16 51.61 - - - GRM3 0 genome.wustl.edu 37 7 86493602 86493602 + Missense_Mutation SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 86493602 86493602 T C SNP GRM3 ENST00000394720 human ensembl 69_37n +1 known missense c.1498 p.C500R 0.989 NULL pfam_ANF_lig-bd_rcpt,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt - no_errors GRM3 HGNC ENSG00000198822 54 0 0.00 42 20 32.26 - - - HSD17B3 0 genome.wustl.edu 37 9 99006675 99006675 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 99006675 99006675 G A SNP HSD17B3 ENST00000375263 human ensembl 69_37n -1 known missense c.608 p.A203V 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B3 HGNC ENSG00000130948 42 0 0.00 26 19 42.22 - - - HTR7P1 0 genome.wustl.edu 37 12 13153397 13153397 + RNA SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 13153397 13153397 G C SNP HTR7P1 ENST00000535469 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors HTR7P1 HGNC ENSG00000183935 8 0 0.00 6 6 50.00 - - - IGHV4-61 0 genome.wustl.edu 37 14 107095423 107095423 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 14 107095423 107095423 G A SNP IGHV4-61 ENST00000390630 human ensembl 69_37n -1 known silent c.57 p.S19 0.987 pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-61 HGNC ENSG00000211970 37 0 0.00 24 6 20.00 - - - ILF2 0 genome.wustl.edu 37 1 153634800 153634800 + RNA SNP A A C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 153634800 153634800 A C SNP ILF2 ENST00000480213 human ensembl 69_37n -1 known rna NULL NULL 0.068 - - - no_errors ILF2 HGNC ENSG00000143621 50 0 0.00 39 31 44.29 - - - KCNA1 0 genome.wustl.edu 37 12 5020749 5020749 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 5020749 5020749 C T SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known missense c.205 p.R69C 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 74 0 0.00 63 41 39.42 - - - KCNH6 0 genome.wustl.edu 37 17 61613419 61613419 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 61613419 61613419 G T SNP KCNH6 ENST00000583023 human ensembl 69_37n +1 known missense c.1491 p.M497I 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_2pore_dom_K_chnl pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 91 0 0.00 69 29 29.59 - - - KIAA0825 0 genome.wustl.edu 37 5 93739293 93739296 + Frame_Shift_Del DEL GTTA GTTA - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 GTTA GTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 93739293 93739296 GTTA - DEL KIAA0825 ENST00000427991 human ensembl 69_37n -1 known frame_shift_del c.2868_2865 p.N956fs 0.453:0.408:0.407:0.360 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 27 0 0.00 33 10 22.73 - - - KIAA1755 0 genome.wustl.edu 37 20 36868033 36868033 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 20 36868033 36868033 G A SNP KIAA1755 ENST00000279024 human ensembl 69_37n -1 known silent c.1644 p.S548 0.034 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 38 0 0.00 47 9 16.07 - - - LAMB1 0 genome.wustl.edu 37 7 107618513 107618513 + Nonsense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 107618513 107618513 G A SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known nonsense c.979 p.R327* 1.000 smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 53 0 0.00 30 4 11.76 - - - LRRC43 0 genome.wustl.edu 37 12 122669297 122669297 + Missense_Mutation SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 122669297 122669297 T G SNP LRRC43 ENST00000339777 human ensembl 69_37n +1 known missense c.382 p.F128V 1.000 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 45 0 0.00 42 20 32.26 - - - LRRC73 0 genome.wustl.edu 37 6 43475012 43475012 + Silent SNP T T A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 43475012 43475012 T A SNP LRRC73 ENST00000372441 human ensembl 69_37n -1 novel silent c.915 p.G305 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 26 0 0.00 4 7 63.64 - - - MAGEB18 0 genome.wustl.edu 37 X 26157580 26157580 + Missense_Mutation SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 26157580 26157580 C A SNP MAGEB18 ENST00000325250 human ensembl 69_37n +1 known missense c.478 p.L160I 0.762 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 31 0 0.00 13 9 40.91 - - - MAP1A 0 genome.wustl.edu 37 15 43814751 43814751 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 15 43814751 43814751 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known silent c.1080 p.E360 0.991 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 29 0 0.00 14 11 44.00 - - - MAPKAPK2 0 genome.wustl.edu 37 1 206906058 206906058 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 206906058 206906058 C T SNP MAPKAPK2 ENST00000367103 human ensembl 69_37n +1 known missense c.1198 p.H400Y 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK2 HGNC ENSG00000162889 62 0 0.00 34 22 39.29 - - - MCIN 0 genome.wustl.edu 37 5 54516300 54516300 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 54516300 54516300 C T SNP MCIN ENST00000513312 human ensembl 69_37n -1 novel missense c.1052 p.R351H 0.998 NULL pfam_Geminin_fam - no_errors MCIN HGNC ENSG00000234602 49 0 0.00 34 30 46.88 - - - MICU1 0 genome.wustl.edu 37 10 74326529 74326529 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 10 74326529 74326529 G A SNP MICU1 ENST00000398761 human ensembl 69_37n -1 known missense c.23 p.S8F 0.995 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MICU1 HGNC ENSG00000107745 14 0 0.00 13 9 40.91 - - - MIR550A1 0 genome.wustl.edu 37 7 30329454 30329456 + RNA DEL TGT TGT - TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 30329454 30329456 TGT - DEL MIR550A1 ENST00000385037 human ensembl 69_37n +1 known rna NULL NULL 0.000:0.002:0.010 - - - no_errors MIR550A1 HGNC ENSG00000207771 62 0 0.00 86 14 13.86 - - - MOB2 0 genome.wustl.edu 37 11 1492541 1492541 + Silent SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 11 1492541 1492541 C A SNP MOB2 ENST00000329957 human ensembl 69_37n -1 novel silent c.474 p.V158 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB2 HGNC ENSG00000182208 87 0 0.00 49 18 26.87 - - - MYO15A 0 genome.wustl.edu 37 17 18075556 18075556 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 18075556 18075556 C T SNP MYO15A ENST00000451725 human ensembl 69_37n +1 known missense c.683 p.S228F 1.000 NULL pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom - no_errors MYO15A HGNC ENSG00000091536 32 0 0.00 22 9 29.03 - - - NDUFV3 0 genome.wustl.edu 37 21 44324236 44324236 + Nonsense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 21 44324236 44324236 G T SNP NDUFV3 ENST00000354250 human ensembl 69_37n +1 known nonsense c.1114 p.E372* 0.044 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 51 0 0.00 29 11 27.50 - - - NEB 0 genome.wustl.edu 37 2 152506885 152506885 + Silent SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 152506885 152506885 A G SNP NEB ENST00000397345 human ensembl 69_37n -1 known silent c.7236 p.Y2412 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 33 0 0.00 31 17 35.42 - - - NHSL2 0 genome.wustl.edu 37 X 71363117 71363117 + Missense_Mutation SNP T T A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 71363117 71363117 T A SNP NHSL2 ENST00000540800 human ensembl 69_37n +1 known missense c.3371 p.L1124Q 1.000 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 46 0 0.00 45 6 11.76 - - - NMBR 0 genome.wustl.edu 37 6 142399958 142399958 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 142399958 142399958 C T SNP NMBR ENST00000258042 human ensembl 69_37n -1 known missense c.505 p.V169M 0.998 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors NMBR HGNC ENSG00000135577 38 0 0.00 19 9 32.14 - - - NMUR1 0 genome.wustl.edu 37 2 232393177 232393177 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 232393177 232393177 G A SNP NMUR1 ENST00000305141 human ensembl 69_37n -1 known silent c.555 p.V185 0.983 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors NMUR1 HGNC ENSG00000171596 56 0 0.00 26 21 44.68 - - - NR1D1 0 genome.wustl.edu 37 17 38253556 38253556 + Silent SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 38253556 38253556 C A SNP NR1D1 ENST00000246672 human ensembl 69_37n -1 known silent c.132 p.L44 0.994 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 62 0 0.00 30 20 40.00 - - - NRCAM 0 genome.wustl.edu 37 7 107831699 107831699 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 107831699 107831699 G A SNP NRCAM ENST00000379028 human ensembl 69_37n -1 known silent c.1932 p.Y644 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NRCAM HGNC ENSG00000091129 29 0 0.00 7 7 50.00 - - - OAT 0 genome.wustl.edu 37 10 126090320 126090320 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 10 126090320 126090320 C T SNP OAT ENST00000368845 human ensembl 69_37n -1 known missense c.989 p.C330Y 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 40 0 0.00 25 16 39.02 - - - OR2G6 0 genome.wustl.edu 37 1 248685080 248685080 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 248685080 248685080 C T SNP OR2G6 ENST00000343414 human ensembl 69_37n +1 known missense c.133 p.L45F 0.106 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 40 0 0.00 26 13 32.50 - - - OR4C13 0 genome.wustl.edu 37 11 49974581 49974581 + Missense_Mutation SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 11 49974581 49974581 T C SNP OR4C13 ENST00000555099 human ensembl 69_37n +1 known missense c.607 p.F203L 0.012 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C13 HGNC ENSG00000258817 87 0 0.00 66 42 38.89 - - - OTOF 0 genome.wustl.edu 37 2 26695482 26695482 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 26695482 26695482 C G SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.3769 p.G1257R 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 28 0 0.00 28 10 26.32 - - - PCMTD1 0 genome.wustl.edu 37 8 52733164 52733164 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 8 52733164 52733164 G C SNP PCMTD1 ENST00000360540 human ensembl 69_37n -1 known missense c.821 p.P274R 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 111 1 0.89 97 11 10.19 - - - PDZD2 0 genome.wustl.edu 37 5 32089647 32089647 + Silent SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 32089647 32089647 T G SNP PDZD2 ENST00000282493 human ensembl 69_37n +1 known silent c.6093 p.A2031 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 23 0 0.00 17 7 29.17 - - - PKHD1L1 0 genome.wustl.edu 37 8 110491846 110491846 + Silent SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 8 110491846 110491846 G C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known silent c.9156 p.G3052 1.000 pfam_G8_domain pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 39 0 0.00 46 17 26.98 - - - PON3 0 genome.wustl.edu 37 7 94991698 94991698 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 94991698 94991698 G C SNP PON3 ENST00000265627 human ensembl 69_37n -1 known missense c.882 p.N294K 1.000 pfam_SGL,prints_Paraoxonase2 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON3 HGNC ENSG00000105852 41 0 0.00 9 11 55.00 - - - PRAM1 0 genome.wustl.edu 37 19 8564204 8564204 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 19 8564204 8564204 G A SNP PRAM1 ENST00000423345 human ensembl 69_37n -1 known missense c.488 p.P163L 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 24 0 0.00 31 15 32.61 - - - PRKG1 0 genome.wustl.edu 37 10 54048489 54048489 + Silent SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 10 54048489 54048489 A G SNP PRKG1 ENST00000373980 human ensembl 69_37n +1 known silent c.1713 p.P571 0.959 pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 37 0 0.00 15 16 51.61 - - - PRUNE2 0 genome.wustl.edu 37 9 79229449 79229449 + RNA SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 79229449 79229449 G A SNP PRUNE2 ENST00000464414 human ensembl 69_37n -1 known rna NULL NULL 0.002 - - - no_errors PRUNE2 HGNC ENSG00000106772 21 0 0.00 12 8 40.00 - - - PTPN23 0 genome.wustl.edu 37 3 47449250 47449250 + Missense_Mutation SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 47449250 47449250 T C SNP PTPN23 ENST00000265562 human ensembl 69_37n +1 known missense c.1067 p.I356T 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 49 0 0.00 26 7 21.21 - - - PYGM 0 genome.wustl.edu 37 11 64519463 64519463 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 11 64519463 64519463 C G SNP PYGM ENST00000164139 human ensembl 69_37n -1 known missense c.1701 p.Q567H 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 97 0 0.00 61 34 35.79 - - - RBM27 0 genome.wustl.edu 37 5 145651128 145651128 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 5 145651128 145651128 G T SNP RBM27 ENST00000265271 human ensembl 69_37n +1 known missense c.2879 p.G960V 0.903 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 42 0 0.00 30 4 11.76 - - - RBMS3 0 genome.wustl.edu 37 3 29476234 29476234 + Missense_Mutation SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 29476234 29476234 C A SNP RBMS3 ENST00000383767 human ensembl 69_37n +1 known missense c.76 p.Q26K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom - no_errors RBMS3 HGNC ENSG00000144642 42 0 0.00 53 28 34.57 - - - RDH13 0 genome.wustl.edu 37 19 55558755 55558755 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 19 55558755 55558755 C T SNP RDH13 ENST00000415061 human ensembl 69_37n -1 known missense c.760 p.G254R 0.994 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 73 0 0.00 66 30 31.25 - - - RNF17 0 genome.wustl.edu 37 13 25418854 25418854 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 13 25418854 25418854 G A SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.2896 p.D966N 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 26 0 0.00 20 6 23.08 - - - RNF17 0 genome.wustl.edu 37 13 25418881 25418881 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 13 25418881 25418881 G C SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.2923 p.D975H 0.988 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 34 0 0.00 21 7 25.00 - - - RNF17 0 genome.wustl.edu 37 13 25418926 25418926 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 13 25418926 25418926 G C SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.2968 p.D990H 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 31 0 0.00 19 8 29.63 - - - RNF17 0 genome.wustl.edu 37 13 25419111 25419111 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 13 25419111 25419111 G T SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.2995 p.D999Y 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 67 0 0.00 38 15 28.30 - - - RNF17 0 genome.wustl.edu 37 13 25419123 25419123 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 13 25419123 25419123 G A SNP RNF17 ENST00000255324 human ensembl 69_37n +1 known missense c.3007 p.E1003K 0.998 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 63 0 0.00 42 15 26.32 - - - RPL32 0 genome.wustl.edu 37 3 12881039 12881039 + Silent SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 12881039 12881039 A G SNP RPL32 ENST00000273223 human ensembl 69_37n -1 novel silent c.141 p.Y47 0.003 pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e - no_errors RPL32 HGNC ENSG00000144713 76 0 0.00 76 23 23.23 - - - RPS4X 0 genome.wustl.edu 37 X 71493127 71493127 + Silent SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 71493127 71493127 G T SNP RPS4X ENST00000316084 human ensembl 69_37n -1 known silent c.645 p.G215 1.000 pirsf_Ribosomal_S4e pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd - no_errors RPS4X HGNC ENSG00000198034 45 0 0.00 41 23 35.94 - - - RREB1 0 genome.wustl.edu 37 6 7249005 7249005 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 6 7249005 7249005 C G SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known missense c.5033 p.A1678G 0.862 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 31 0 0.00 42 18 30.00 - - - SBNO2 0 genome.wustl.edu 37 19 1127657 1127657 + Silent SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 19 1127657 1127657 G A SNP SBNO2 ENST00000361757 human ensembl 69_37n -1 known silent c.387 p.L129 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 47 0 0.00 30 7 18.92 - - - SCIN 0 genome.wustl.edu 37 7 12611252 12611252 + Splice_Site SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 12611252 12611252 T C SNP SCIN ENST00000417018 human ensembl 69_37n +1 novel splice_site c.280+2 e2+2 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region SCIN HGNC ENSG00000006747 9 0 0.00 13 4 23.53 - - - SERPINA5 0 genome.wustl.edu 37 14 95053962 95053962 + Missense_Mutation SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 14 95053962 95053962 A G SNP SERPINA5 ENST00000329597 human ensembl 69_37n +1 known missense c.263 p.K88R 0.003 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA5 HGNC ENSG00000188488 20 0 0.00 8 12 60.00 - - - SIX4 0 genome.wustl.edu 37 14 61190202 61190202 + Silent SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 14 61190202 61190202 G T SNP SIX4 ENST00000216513 human ensembl 69_37n -1 known silent c.591 p.A197 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX4 HGNC ENSG00000100625 69 0 0.00 32 42 56.76 - - - SLC44A5 0 genome.wustl.edu 37 1 75684231 75684231 + Silent SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 75684231 75684231 T C SNP SLC44A5 ENST00000370855 human ensembl 69_37n -1 known silent c.1473 p.K491 0.019 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 48 0 0.00 34 19 35.85 - - - SLC4A2 0 genome.wustl.edu 37 7 150761400 150761400 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 150761400 150761400 G A SNP SLC4A2 ENST00000413384 human ensembl 69_37n +1 known missense c.163 p.G55R 0.750 prints_Anion_exchange_2 pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 34 0 0.00 30 14 31.82 - - - SNAPIN 0 genome.wustl.edu 37 1 153633731 153633731 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 1 153633731 153633731 C T SNP SNAPIN ENST00000368685 human ensembl 69_37n +1 known missense c.365 p.A122V 1.000 pirsf_Snapin pirsf_Snapin - no_errors SNAPIN HGNC ENSG00000143553 33 0 0.00 18 7 28.00 - - - SNRPG 0 genome.wustl.edu 37 2 70520828 70520828 + RNA SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 70520828 70520828 G C SNP SNRPG ENST00000429728 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SNRPG HGNC ENSG00000143977 24 0 0.00 32 11 25.58 - - - SPAG9 0 genome.wustl.edu 37 17 49075939 49075939 + Silent SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 49075939 49075939 C T SNP SPAG9 ENST00000262013 human ensembl 69_37n -1 known silent c.1704 p.K568 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 61 0 0.00 37 19 33.93 - - - SPHKAP 0 genome.wustl.edu 37 2 228855842 228855842 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 228855842 228855842 G C SNP SPHKAP ENST00000392056 human ensembl 69_37n -1 known missense c.4833 p.I1611M 1.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 34 0 0.00 26 13 33.33 - - - SPON1 0 genome.wustl.edu 37 11 14280995 14280995 + RNA SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 11 14280995 14280995 C T SNP SPON1 ENST00000310358 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 29 0 0.00 27 11 28.95 - - - STAB1 0 genome.wustl.edu 37 3 52548716 52548716 + Splice_Site SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 52548716 52548716 G T SNP STAB1 ENST00000321725 human ensembl 69_37n +1 known splice_site c.3679-1 e35-1 1.000 - - - no_errors STAB1 HGNC ENSG00000010327 29 0 0.00 9 11 55.00 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25746840 25746840 + Splice_Site SNP T T C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 25746840 25746840 T C SNP TBC1D3P5 ENST00000579401 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.383 - - - no_coding_region:pseudogene TBC1D3P5 HGNC ENSG00000266433 89 0 0.00 61 41 40.20 - - - TBC1D8 0 genome.wustl.edu 37 2 101627398 101627398 + Missense_Mutation SNP A A G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 101627398 101627398 A G SNP TBC1D8 ENST00000409318 human ensembl 69_37n -1 known missense c.3008 p.M1003T 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 52 0 0.00 37 23 38.33 - - - TENC1 0 genome.wustl.edu 37 12 53451843 53451843 + Missense_Mutation SNP G G C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 53451843 53451843 G C SNP TENC1 ENST00000314276 human ensembl 69_37n +1 known missense c.1082 p.C361S 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 16 0 0.00 12 5 29.41 - - - TIAM1 0 genome.wustl.edu 37 21 32624364 32624364 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 21 32624364 32624364 C T SNP TIAM1 ENST00000286827 human ensembl 69_37n -1 known missense c.1105 p.D369N 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 70 0 0.00 84 11 11.58 - - - TLK2 0 genome.wustl.edu 37 17 60598145 60598145 + Missense_Mutation SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 60598145 60598145 T G SNP TLK2 ENST00000326270 human ensembl 69_37n +1 known missense c.93 p.N31K 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TLK2 HGNC ENSG00000146872 52 0 0.00 45 27 37.50 - - - TMEM132E 0 genome.wustl.edu 37 17 32953280 32953280 + Missense_Mutation SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 17 32953280 32953280 G T SNP TMEM132E ENST00000321639 human ensembl 69_37n +1 known missense c.202 p.V68F 0.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 65 0 0.00 47 31 39.74 - - - TMEM182 0 genome.wustl.edu 37 2 103378743 103378743 + Missense_Mutation SNP G G A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 103378743 103378743 G A SNP TMEM182 ENST00000412401 human ensembl 69_37n +1 known missense c.67 p.V23M 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 49 0 0.00 38 19 33.33 - - - TRAF3IP1 0 genome.wustl.edu 37 2 239237696 239237696 + Missense_Mutation SNP A A C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 239237696 239237696 A C SNP TRAF3IP1 ENST00000373327 human ensembl 69_37n +1 known missense c.628 p.N210H 0.749 pfam_Microtubule/TRAF3/DISC1-bd pfam_Microtubule/TRAF3/DISC1-bd - no_errors TRAF3IP1 HGNC ENSG00000204104 16 0 0.00 4 4 50.00 - - - TRIAP1 0 genome.wustl.edu 37 12 120882406 120882406 + RNA SNP A A C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 120882406 120882406 A C SNP TRIAP1 ENST00000302432 human ensembl 69_37n -1 putative rna NULL NULL 0.441 - - - no_errors TRIAP1 HGNC ENSG00000170855 48 0 0.00 13 10 43.48 - - - TSHZ1 0 genome.wustl.edu 37 18 72999753 72999753 + Silent SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 18 72999753 72999753 C T SNP TSHZ1 ENST00000580243 human ensembl 69_37n +1 known silent c.2391 p.A797 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 19 0 0.00 13 5 27.78 - - - TUBA1C 0 genome.wustl.edu 37 12 49666681 49666681 + Missense_Mutation SNP A A T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 49666681 49666681 A T SNP TUBA1C ENST00000301072 human ensembl 69_37n +1 known missense c.1021 p.I341F 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 85 0 0.00 66 28 29.79 - - - UBE3B 0 genome.wustl.edu 37 12 109928922 109928922 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 12 109928922 109928922 C G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.703 p.L235V 0.915 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 56 0 0.00 27 7 20.59 - - - UGT1A1 0 genome.wustl.edu 37 2 234669368 234669368 + Missense_Mutation SNP T T G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 234669368 234669368 T G SNP UGT1A1 ENST00000305208 human ensembl 69_37n +1 known missense c.435 p.F145L 0.468 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 45 0 0.00 28 13 31.71 - - - VPS8 0 genome.wustl.edu 37 3 184556530 184556530 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 3 184556530 184556530 C G SNP VPS8 ENST00000287546 human ensembl 69_37n +1 known missense c.476 p.A159G 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 65 0 0.00 39 25 39.06 - - - VRK2 0 genome.wustl.edu 37 2 58366890 58366890 + Missense_Mutation SNP C C A TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 58366890 58366890 C A SNP VRK2 ENST00000340157 human ensembl 69_37n +1 known missense c.946 p.H316N 0.000 pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors VRK2 HGNC ENSG00000028116 47 0 0.00 26 17 39.53 - - - WDR96 0 genome.wustl.edu 37 10 105893361 105893361 + RNA SNP G G T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 10 105893361 105893361 G T SNP WDR96 ENST00000479392 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors WDR96 HGNC ENSG00000197748 31 0 0.00 29 7 19.44 - - - ZAN 0 genome.wustl.edu 37 7 100364817 100364817 + Missense_Mutation SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 7 100364817 100364817 C G SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.4797 p.I1599M 0.895 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 42 0 0.00 31 9 22.50 - - - ZAP70 0 genome.wustl.edu 37 2 98341118 98341118 + RNA SNP C C G TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 2 98341118 98341118 C G SNP ZAP70 ENST00000463643 human ensembl 69_37n +1 known rna NULL NULL 0.064 - - - no_errors ZAP70 HGNC ENSG00000115085 65 0 0.00 35 17 32.69 - - - ZFYVE19 0 genome.wustl.edu 37 15 41105030 41105030 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 15 41105030 41105030 C T SNP ZFYVE19 ENST00000561617 human ensembl 69_37n +1 novel missense c.742 p.H248Y 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZFYVE19 HGNC ENSG00000166140 60 0 0.00 45 18 28.57 - - - ZNF462 0 genome.wustl.edu 37 9 109689355 109689355 + Silent SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 9 109689355 109689355 C T SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known silent c.3162 p.P1054 0.002 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 27 0 0.00 28 13 31.71 - - - ZNF645 0 genome.wustl.edu 37 X 22291680 22291680 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f X 22291680 22291680 C T SNP ZNF645 ENST00000323684 human ensembl 69_37n +1 known missense c.572 p.P191L 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 37 0 0.00 22 14 38.89 - - - ZNF74 0 genome.wustl.edu 37 22 20748932 20748932 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 22 20748932 20748932 C T SNP ZNF74 ENST00000356671 human ensembl 69_37n +1 known missense c.14 p.A5V 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF74 HGNC ENSG00000185252 16 0 0.00 7 9 56.25 - - - ZNF91 0 genome.wustl.edu 37 19 23578125 23578125 + Splice_Site SNP A A C TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7b62179b-7b95-441a-8fe2-6e1f604ee077 d9f3df49-ebb8-4208-985d-aa9fee51715f 19 23578125 23578125 A C SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known splice_site c.30+2 e1+2 0.099 - - - no_errors ZNF91 HGNC ENSG00000167232 45 0 0 51 19 27.14 - - -