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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val LGMN 0 genome.wustl.edu 37 14 93182482 93182482 + Missense_Mutation SNP T T A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 14 93182482 93182482 T A SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.403 p.S135C 1.000 pfam_Peptidase_C13,prints_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 tier1 - - 53 0 0.00 75 11 12.79 FCHO1 0 genome.wustl.edu 37 19 17886830 17886830 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 19 17886830 17886830 G A SNP FCHO1 ENST00000252771 human ensembl 74_37 +1 known missense c.1042 p.D348N 0.994 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 62 0 0.00 91 13 12.50 TLL1 0 genome.wustl.edu 37 4 166915615 166915615 + Silent SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 4 166915615 166915615 C A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.444 p.A148 0.976 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 43 0 0.00 8 4 33.33 KIAA0040 0 genome.wustl.edu 37 1 175129948 175129955 + Frame_Shift_Del DEL TCTTCTTG TCTTCTTG - TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 TCTTCTTG TCTTCTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 175129948 175129955 TCTTCTTG - DEL KIAA0040 ENST00000423313 human ensembl 74_37 -1 known frame_shift_del c.202_195 p.N65fs 0.979:0.335:0.011:0.006:0.005:0.014:0.019:0.212 NULL NULL - no_errors KIAA0040 HGNC ENSG00000235750 tier1 NKX6-3 0 genome.wustl.edu 37 8 41505619 41505619 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 8 41505619 41505619 G A SNP NKX6-3 ENST00000518699 human ensembl 74_37 -1 known missense c.518 p.A173V 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-3 HGNC ENSG00000165066 tier1 - - 61 0 0.00 117 20 14.49 BRINP1 0 genome.wustl.edu 37 9 121971060 121971060 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 121971060 121971060 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 108 0 0.00 118 57 32.57 STAB2 0 genome.wustl.edu 37 12 104156110 104156110 + Missense_Mutation SNP G G C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 12 104156110 104156110 G C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7418 p.G2473A 0.724 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 51 0 0.00 67 12 15.19 MMP27 0 genome.wustl.edu 37 11 102575384 102575384 + Silent SNP A A G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 102575384 102575384 A G SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known silent c.225 p.T75 0.987 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 69 0 0.00 51 9 15.00 TGFBRAP1 0 genome.wustl.edu 37 2 105883847 105883847 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 2 105883847 105883847 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known missense c.2576 p.R859Q 1.000 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 tier1 - - 32 0 0.00 43 11 20.37 ENSG00000270726 0 genome.wustl.edu 37 X 155252089 155252089 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 155252089 155252089 C T SNP ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 - - 70 0 0.00 102 41 28.67 TMEM217 0 genome.wustl.edu 37 6 37182996 37182996 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 37182996 37182996 C T SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known missense c.668 p.R223K 0.000 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 74 0 0.00 36 469 92.87 SSX2IP 0 genome.wustl.edu 37 1 85113279 85113279 + Missense_Mutation SNP A A G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 85113279 85113279 A G SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.1682 p.V561A 0.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 tier1 - - 50 0 0.00 21 30 58.82 LONRF3 0 genome.wustl.edu 37 X 118124513 118124513 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 118124513 118124513 C G SNP LONRF3 ENST00000371628 human ensembl 74_37 +1 known missense c.1405 p.L469V 0.215 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 tier1 - - 26 0 0.00 11 11 50.00 PTK2 0 genome.wustl.edu 37 8 141900797 141900797 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 8 141900797 141900797 G T SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.40 p.P14T 0.539 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 tier1 - - 95 0 0.00 87 21 19.44 NUTM1 0 genome.wustl.edu 37 15 34649175 34649175 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 34649175 34649175 C G SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.2882 p.P961R 0.002 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 tier1 - - 32 0 0.00 39 8 17.02 HBD 0 genome.wustl.edu 37 11 5255646 5255646 + Silent SNP A A C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 5255646 5255646 A C SNP HBD ENST00000380299 human ensembl 74_37 -1 known silent c.18 p.P6 0.000 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin - no_errors HBD HGNC ENSG00000223609 tier1 - - 108 0 0.00 117 11 8.59 ACAN 0 genome.wustl.edu 37 15 89398733 89398733 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 89398733 89398733 C T SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.2917 p.L973F 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 71 0 0.00 69 12 14.81 PLCE1 0 genome.wustl.edu 37 10 96012079 96012079 + Nonsense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 10 96012079 96012079 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known nonsense c.3103 p.G1035* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 63 0 0.00 43 7 14.00 KIAA2026 0 genome.wustl.edu 37 9 5968024 5968024 + Missense_Mutation SNP T T C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 5968024 5968024 T C SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.2207 p.K736R 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 65 0 0.00 30 12 28.57 LOC101927211 0 genome.wustl.edu 37 6 57015685 57015685 + R SNP G G C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 57015685 57015685 G C SNP LOC101927211 ENST00000586466 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-203B9.4 Clone_based_vega_gene ENSG00000226803 tier1 - - 35 0 0.00 19 13 40.62 PTPRU 0 genome.wustl.edu 37 1 29630536 29630536 + Silent SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 29630536 29630536 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.2676 p.Y892 0.935 NULL 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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 rs137880682 - 36 0 0.00 52 17 24.64 RS1 0 genome.wustl.edu 37 X 18660178 18660178 + Silent SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 18660178 18660178 G A SNP RS1 ENST00000379984 human ensembl 74_37 -1 known silent c.621 p.H207 0.995 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 tier1 - - 69 0 0.00 126 39 23.64 PLCB2 0 genome.wustl.edu 37 15 40591138 40591138 + Silent SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 40591138 40591138 C T SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.711 p.T237 0.989 pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 tier1 - - 71 0 0.00 130 16 10.96 ANKFN1 0 genome.wustl.edu 37 17 54554883 54554883 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 54554883 54554883 G A SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known missense c.1817 p.R606H 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 36 0 0.00 11 14 56.00 ENSG00000222717 0 genome.wustl.edu 37 5 13174884 13174884 + R SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 5 13174884 13174884 G A SNP ENSG00000222717 ENST00000410785 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors AC016553.1 Clone_based_ensembl_gene ENSG00000222717 tier1 - - 66 0 0.00 26 8 23.53 DOPEY2 0 genome.wustl.edu 37 21 37617593 37617593 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 21 37617593 37617593 C G SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.3315 p.D1105E 0.987 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 - - 10 0 0.00 33 15 31.25 SREBF2 0 genome.wustl.edu 37 22 42276779 42276779 + Missense_Mutation SNP A A G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 22 42276779 42276779 A G SNP SREBF2 ENST00000424354 human ensembl 74_37 +1 known missense c.1921 p.T641A 0.045 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 - - 46 0 0.00 56 19 25.33 ENSG00000205821 0 genome.wustl.edu 37 17 2310396 2310396 + Nonsense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 2310396 2310396 G A SNP ENSG00000205821 ENST00000609667 human ensembl 74_37 -1 known nonsense c.376 p.Q126* 0.982 NULL NULL - no_errors AC006435.1 Clone_based_ensembl_gene ENSG00000205821 tier1 - - 49 0 0.00 37 4 9.76 AMZ1 0 genome.wustl.edu 37 7 2748796 2748796 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 7 2748796 2748796 C T SNP AMZ1 ENST00000312371 human ensembl 74_37 +1 known missense c.689 p.A230V 0.000 NULL pfam_Pept_M54_archaemetzincn - no_errors AMZ1 HGNC ENSG00000174945 tier1 - - 15 0 0.00 17 8 32.00 ZNF273 0 genome.wustl.edu 37 7 64388928 64388928 + Frame_Shift_Del DEL G G - TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 7 64388928 64388928 G - DEL ZNF273 ENST00000476120 human ensembl 74_37 +1 known frame_shift_del c.1222 p.G408fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 tier1 73 0 0.00 15 2 11.76 ATG2A 0 genome.wustl.edu 37 11 64678645 64678645 + Missense_Mutation SNP G G C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 64678645 64678645 G C SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1331 p.P444R 0.971 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 tier1 - - 32 0 0.00 34 17 33.33 NPTN 0 genome.wustl.edu 37 15 73879883 73879883 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 73879883 73879883 C T SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.688 p.A230T 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 tier1 - - 42 0 0.00 75 15 16.67 SLC9A8 0 genome.wustl.edu 37 20 48467301 48467301 + Frame_Shift_Del DEL T T - TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 20 48467301 48467301 T - DEL SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_del c.537 p.F182fs 0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 14 0 0.00 15 5 25.00 PKP2 0 genome.wustl.edu 37 12 32975533 32975533 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 12 32975533 32975533 G T SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.1839 p.N613K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 tier1 - - 37 0 0.00 53 7 11.67 CDH18 0 genome.wustl.edu 37 5 19838992 19838992 + Missense_Mutation SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 5 19838992 19838992 C A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.104 p.R35I 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 143 0 0.00 177 18 9.23 DCHS2 0 genome.wustl.edu 37 4 155160445 155160445 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 4 155160445 155160445 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6004 p.P2002S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 46 0 0.00 29 8 21.62 ARHGEF15 0 genome.wustl.edu 37 17 8218893 8218893 + Splice_Site SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 8218893 8218893 G T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known splice_site c.1421+1 e6+1 1.000 - - - no_errors ARHGEF15 HGNC ENSG00000198844 tier1 - - 34 0 0.00 43 11 20.37 FOLH1B 0 genome.wustl.edu 37 11 89405054 89405054 + Splice_Site SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 89405054 89405054 G T SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 52 0 0.00 48 5 9.43 WNK3 0 genome.wustl.edu 37 X 54264792 54264792 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 54264792 54264792 G T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.3997 p.Q1333K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 tier1 - - 60 0 0.00 91 14 13.33 HEY2 0 genome.wustl.edu 37 6 126070965 126070965 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 126070965 126070965 G T SNP HEY2 ENST00000368364 human ensembl 74_37 +1 known missense c.43 p.D15Y 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 tier1 - - 39 0 0.00 39 4 9.09 GCM2 0 genome.wustl.edu 37 6 10877424 10877424 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 10877424 10877424 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.292 p.R98C 0.869 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 tier1 - - 36 0 0.00 88 13 12.87 LOC101927211 0 genome.wustl.edu 37 6 57015498 57015498 + R SNP G G C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 57015498 57015498 G C SNP LOC101927211 ENST00000589263 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-203B9.4 Clone_based_vega_gene ENSG00000226803 tier1 - - 44 0 0.00 35 10 21.74 SLC25A48 0 genome.wustl.edu 37 5 135188461 135188461 + Silent SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 5 135188461 135188461 G T SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known silent c.372 p.V124 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 tier1 - - 59 0 0.00 68 20 22.73 AMZ2 0 genome.wustl.edu 37 17 66247426 66247427 + R INS - - CTGTATAG TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 66247426 66247427 - CTGTATAG INS AMZ2 ENST00000581779 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors AMZ2 HGNC ENSG00000196704 tier1 PNMA2 0 genome.wustl.edu 37 8 26366390 26366390 + R SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 8 26366390 26366390 G A SNP PNMA2 ENST00000518212 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNMA2 HGNC ENSG00000240694 tier1 - - 34 0 0.00 23 10 30.30 ENSG00000221136 0 genome.wustl.edu 37 4 176394181 176394181 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 4 176394181 176394181 C T SNP ENSG00000221136 ENST00000408209 human ensembl 74_37 +1 novel rna NULL NULL 0.049 - - - no_errors AC131094.1 Clone_based_ensembl_gene ENSG00000221136 tier1 - - 92 0 0.00 62 12 16.22 ZNF451 0 genome.wustl.edu 37 6 57017071 57017071 + Silent SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 57017071 57017071 G A SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known silent c.2805 p.L935 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 tier1 - - 68 0 0.00 90 20 18.18 FDXACB1 0 genome.wustl.edu 37 11 111746328 111746328 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 111746328 111746328 C T SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.1193 p.G398E 0.475 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 tier1 rs137921139 GMAF=0.0005 15 0 0.00 5 5 50.00 PIKFYVE 0 genome.wustl.edu 37 2 209215655 209215655 + Silent SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 2 209215655 209215655 C A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.5595 p.A1865 0.912 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 81 0 0.00 86 14 14.00 HSPA12B 0 genome.wustl.edu 37 20 3729966 3729966 + Splice_Site SNP G G C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 20 3729966 3729966 G C SNP HSPA12B ENST00000254963 human ensembl 74_37 +1 known splice_site c.937+1 e8+1 1.000 - - - no_errors HSPA12B HGNC ENSG00000132622 tier1 - - 45 0 0.00 72 25 25.77 CMPK2 0 genome.wustl.edu 37 2 6988912 6988912 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 2 6988912 6988912 C T SNP CMPK2 ENST00000478738 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CMPK2 HGNC ENSG00000134326 tier1 - - 67 0 0.00 27 13 32.50 ZNHIT2 0 genome.wustl.edu 37 11 64884288 64884288 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 11 64884288 64884288 G T SNP ZNHIT2 ENST00000310597 human ensembl 74_37 -1 known missense c.838 p.P280T 0.995 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT2 HGNC ENSG00000174276 tier1 - - 18 0 0.00 18 5 21.74 ALS2CL 0 genome.wustl.edu 37 3 46716064 46716064 + Missense_Mutation SNP A A T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 3 46716064 46716064 A T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.2421 p.D807E 0.031 pfscan_VPS9 pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 21 0 0.00 17 25 59.52 TSKS 0 genome.wustl.edu 37 19 50247562 50247562 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 19 50247562 50247562 C G SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.1287 p.Q429H 0.974 NULL NULL - no_errors TSKS HGNC ENSG00000126467 tier1 - - 28 0 0.00 21 19 47.50 RGS3 0 genome.wustl.edu 37 9 116356457 116356457 + Silent SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 116356457 116356457 C A SNP RGS3 ENST00000462403 human ensembl 74_37 +1 known silent c.258 p.T86 0.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 13 0 0.00 18 9 33.33 TMEM110 0 genome.wustl.edu 37 3 52877150 52877150 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 3 52877150 52877150 C T SNP TMEM110 ENST00000464769 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors TMEM110 HGNC ENSG00000213533 tier1 - - 13 0 0.00 4 5 55.56 ENSG00000261616 0 genome.wustl.edu 37 15 99679888 99679888 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 99679888 99679888 C T SNP ENSG00000261616 ENST00000564527 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-6O2.3 Clone_based_vega_gene ENSG00000261616 tier1 - - 47 0 0.00 53 6 10.17 XRCC3 0 genome.wustl.edu 37 14 104165290 104165290 + Silent SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 14 104165290 104165290 G A SNP XRCC3 ENST00000352127 human ensembl 74_37 -1 known silent c.886 p.L296 1.000 pfam_D_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_D_recomb/repair_RecA-like pfam_D_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_D_recomb/repair_RecA-like,pfscan_D_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 tier1 - - 24 0 0.00 29 10 25.64 PNMA2 0 genome.wustl.edu 37 8 26366391 26366391 + R SNP A A T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 8 26366391 26366391 A T SNP PNMA2 ENST00000518212 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PNMA2 HGNC ENSG00000240694 tier1 - - 35 0 0.00 23 11 32.35 POTEM 0 genome.wustl.edu 37 14 20007611 20007611 + Silent SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 14 20007611 20007611 G A SNP POTEM ENST00000547848 human ensembl 74_37 -1 known silent c.1077 p.D359 0.230 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 tier1 - - 64 0 0.00 23 4 14.81 IDUA 0 genome.wustl.edu 37 4 995781 995781 + Missense_Mutation SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 4 995781 995781 C A SNP IDUA ENST00000453894 human ensembl 74_37 +1 known missense c.763 p.L255I 1.000 NULL pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 tier1 - - 14 0 0.00 19 14 42.42 CYP4Z1 0 genome.wustl.edu 37 1 47583592 47583592 + Nonsense_Mutation SNP A A T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 47583592 47583592 A T SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known nonsense c.1504 p.K502* 0.507 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 tier1 - - 44 0 0.00 20 12 37.50 RB1 0 genome.wustl.edu 37 13 48951157 48951157 + Frame_Shift_Del DEL A A - TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 13 48951157 48951157 A - DEL RB1 ENST00000267163 human ensembl 74_37 +1 known frame_shift_del c.1319 p.I441fs 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 48 0 0.00 11 16 59.26 IQCK 0 genome.wustl.edu 37 16 19800230 19800230 + Missense_Mutation SNP T T A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 16 19800230 19800230 T A SNP IQCK ENST00000320394 human ensembl 74_37 +1 known missense c.676 p.W226R 1.000 NULL NULL - no_errors IQCK HGNC ENSG00000174628 tier1 - - 62 0 0.00 54 28 34.15 MT-CO1 0 genome.wustl.edu 37 MT 6264 6264 + Nonsense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec MT 6264 6264 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known nonsense c.361 p.G121* 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 tier1 - - 99 0 0.00 24 20 45.45 DMPK 0 genome.wustl.edu 37 19 46275980 46275980 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 19 46275980 46275980 C G SNP DMPK ENST00000343373 human ensembl 74_37 -1 known missense c.1293 p.M431I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors DMPK HGNC ENSG00000104936 tier1 - - 44 0 0.00 87 22 20.18 TOPORS-AS1 0 genome.wustl.edu 37 9 32552393 32552393 + R SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 32552393 32552393 G A SNP TOPORS-AS1 ENST00000425533 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TOPORS-AS1 HGNC ENSG00000235453 tier1 - - 33 0 0.00 42 22 33.85 ZNF462 0 genome.wustl.edu 37 9 109691436 109691436 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 109691436 109691436 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.5243 p.P1748L 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 32 0 0.00 39 12 23.53 ZNF451 0 genome.wustl.edu 37 6 57017129 57017129 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 57017129 57017129 G A SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.2863 p.D955N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 tier1 - - 56 0 0.00 72 13 15.29 IQGAP3 0 genome.wustl.edu 37 1 156507018 156507018 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 156507018 156507018 G A SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.3377 p.T1126I 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 tier1 - - 78 0 0.00 105 33 23.91 OR13D1 0 genome.wustl.edu 37 9 107456942 107456942 + Silent SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 9 107456942 107456942 C A SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known silent c.240 p.I80 0.000 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 OR13D1 HGNC ENSG00000179055 tier1 - - 81 0 0.00 84 13 13.40 APEX2 0 genome.wustl.edu 37 X 55033727 55033727 + Missense_Mutation SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 55033727 55033727 C A SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.1416 p.H472Q 0.973 pfam_Znf_GRF pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 tier1 - - 37 0 0.00 114 24 17.39 SERPIND1 0 genome.wustl.edu 37 22 21138335 21138335 + Missense_Mutation SNP A A T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 22 21138335 21138335 A T SNP SERPIND1 ENST00000215727 human ensembl 74_37 +1 known missense c.965 p.K322M 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPIND1 HGNC ENSG00000099937 tier1 - - 36 0 0.00 59 13 18.06 ZSWIM8 0 genome.wustl.edu 37 10 75553404 75553404 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 10 75553404 75553404 G T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.2372 p.R791L 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 - - 22 0 0.00 16 18 52.94 RIT2 0 genome.wustl.edu 37 18 40503652 40503652 + Missense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 18 40503652 40503652 C T SNP RIT2 ENST00000326695 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RIT2 HGNC ENSG00000152214 tier1 - - 28 0 0.00 20 19 48.72 ZNF793 0 genome.wustl.edu 37 19 38024339 38024339 + Missense_Mutation SNP A A G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 19 38024339 38024339 A G SNP ZNF793 ENST00000587986 human ensembl 74_37 +1 putative missense c.272 p.E91G 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ENSG00000188227 tier1 - - 97 0 0.00 46 30 39.47 MT-ND5 0 genome.wustl.edu 37 MT 12986 12986 + Missense_Mutation SNP T T C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec MT 12986 12986 T C SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.650 p.L217P NULL pfam_DH_UbQ/plastoQ_OxRdtase,tigrfam_DHpl_OxRdtase_5 pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 73 0 0.00 4 52 92.86 TMEM217 0 genome.wustl.edu 37 6 37186212 37186212 + Missense_Mutation SNP C C G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 37186212 37186212 C G SNP TMEM217 ENST00000336655 human ensembl 74_37 -1 known missense c.595 p.E199Q 0.013 NULL NULL - no_errors TMEM217 HGNC ENSG00000172738 tier1 - - 19 0 0.00 20 192 90.14 TP53 0 genome.wustl.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 7574017 7574017 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1010 p.R337L 0.896 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 20 0 0.00 4 20 83.33 UBA1 0 genome.wustl.edu 37 X 47060958 47060958 + Nonsense_Mutation SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec X 47060958 47060958 C T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known nonsense c.760 p.Q254* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_D_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 tier1 - - 33 0 0.00 68 20 22.73 RUNDC3B 0 genome.wustl.edu 37 7 87329764 87329764 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 7 87329764 87329764 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.317 p.S106N 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 28 0 0.00 40 11 21.57 PLXNB1 0 genome.wustl.edu 37 3 48462755 48462756 + Frame_Shift_Ins INS - - GGCCACA TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 3 48462755 48462756 - GGCCACA INS PLXNB1 ENST00000296440 human ensembl 74_37 -1 known frame_shift_ins c.1692_1691 p.G565fs 0.457:0.965 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 tier1 ALDH7A1 0 genome.wustl.edu 37 5 125887816 125887816 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 5 125887816 125887816 G T SNP ALDH7A1 ENST00000409134 human ensembl 74_37 -1 known missense c.1214 p.P405H 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH7A1 HGNC ENSG00000164904 tier1 - - 34 0 0.00 40 4 9.09 OR4M2 0 genome.wustl.edu 37 15 22368626 22368626 + Silent SNP A A G TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 15 22368626 22368626 A G SNP OR4M2 ENST00000332663 human ensembl 74_37 +1 putative silent c.51 p.L17 0.984 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M2 HGNC ENSG00000182974 tier1 - - 138 0 0.00 75 20 21.05 CASP8AP2 0 genome.wustl.edu 37 6 90584050 90584050 + R SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 6 90584050 90584050 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.826 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 84 0 0.00 59 7 10.61 FAM188B 0 genome.wustl.edu 37 7 30921893 30921893 + Missense_Mutation SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 7 30921893 30921893 G A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2069 p.R690H 0.004 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 tier1 rs199649103 - 29 0 0.00 71 19 21.11 PCDHGA3 0 genome.wustl.edu 37 5 140724710 140724710 + Silent SNP C C T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 5 140724710 140724710 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1110 p.D370 0.415 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 21 0 0.00 25 9 26.47 AZI1 0 genome.wustl.edu 37 17 79173312 79173312 + Missense_Mutation SNP G G T TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 17 79173312 79173312 G T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.1061 p.A354E 0.005 NULL superfamily_t-SRE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 44 0 0.00 99 9 8.33 HPCA 0 genome.wustl.edu 37 1 33354493 33354493 + R SNP G G A TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 1 33354493 33354493 G A SNP HPCA ENST00000480118 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HPCA HGNC ENSG00000121905 tier1 - - 26 0 0.00 46 10 17.86 BOC 0 genome.wustl.edu 37 3 112969691 112969691 + Silent SNP T T C TCGA-IS-A3KA-01A-11D-A21Q-09 TCGA-IS-A3KA-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 d8f0becd-fda8-41f4-a424-e082f9eae22c 5f7a0fb0-9477-462c-959e-7fc6f0125fec 3 112969691 112969691 T C SNP BOC ENST00000484034 human ensembl 74_37 +1 putative silent c.387 p.A129 0.000 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 tier1 - - 37 0 0.00 67 15 18.29