Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF KIF21B 0 genome.wustl.edu 37 1 200967659 200967659 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 1 200967659 200967659 C T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.1930 p.E644K 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 113 0 0 83 22 20.9524 OR2T12 0 genome.wustl.edu 37 1 248458186 248458186 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 1 248458186 248458186 C T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.695 p.R232H 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 110 0 0 51 74 59.2 ARID1A 0 genome.wustl.edu 37 1 27056214 27056214 + Nonsense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 1 27056214 27056214 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1210 p.Q404* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 142 0 0 53 39 42.3913 PTCH2 0 genome.wustl.edu 37 1 45288225 45288225 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 1 45288225 45288225 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known silent c.3474 p.T1158 1.000 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 111 0 0 55 32 36.7816 SIRT1 0 genome.wustl.edu 37 10 69676111 69676111 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 10 69676111 69676111 A G SNP SIRT1 ENST00000212015 human ensembl 74_37 +1 known missense c.2005 p.S669G 1.000 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT1 HGNC ENSG00000096717 77 0 0 48 14 22.5806 ARHGAP20 0 genome.wustl.edu 37 11 110453059 110453059 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 110453059 110453059 C T SNP ARHGAP20 ENST00000260283 human ensembl 74_37 -1 known missense c.1706 p.R569K 0.813 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ENSG00000137727 176 0 0 104 18 14.7541 DSCAML1 0 genome.wustl.edu 37 11 117389392 117389392 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 117389392 117389392 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.1479 p.G493 0.959 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 41 0 0 42 5 10.6383 SNX19 0 genome.wustl.edu 37 11 130784835 130784835 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 130784835 130784835 C T SNP SNX19 ENST00000265909 human ensembl 74_37 -1 known missense c.1000 p.E334K 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc - no_errors SNX19 HGNC ENSG00000120451 108 0 0 56 10 15.1515 PDE3B 0 genome.wustl.edu 37 11 14808127 14808127 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 14808127 14808127 G A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1174 p.G392S 0.998 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 173 0 0 171 21 10.9375 PAMR1 0 genome.wustl.edu 37 11 35496285 35496285 + Silent SNP G G T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 35496285 35496285 G T SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known silent c.387 p.G129 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 80 0 0 57 13 18.5714 SHANK2 0 genome.wustl.edu 37 11 70332291 70332291 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 70332291 70332291 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known silent c.4110 p.T1370 0.017 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 65 0 0 47 3 6 RBMXL2 0 genome.wustl.edu 37 11 7111052 7111052 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 7111052 7111052 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.701 p.S234L 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 30 0 0 17 3 15 FAT3 0 genome.wustl.edu 37 11 92430579 92430579 + Missense_Mutation SNP G G C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 11 92430579 92430579 G C SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3637 p.D1213H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 85 0 0 49 5 9.25926 WSCD2 0 genome.wustl.edu 37 12 108641966 108641966 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 108641966 108641966 A G SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.1604 p.D535G 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 80 0 0 55 18 24.6575 OAS3 0 genome.wustl.edu 37 12 113379558 113379558 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 113379558 113379558 C T SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.361 p.P121S 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 127 0 0 99 15 13.1579 PIK3C2G 0 genome.wustl.edu 37 12 18491384 18491384 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 18491384 18491384 G A SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.1297 p.E433K 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 97 0 0 89 7 7.29167 TROAP 0 genome.wustl.edu 37 12 49724178 49724178 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 49724178 49724178 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1550 p.P517L 0.027 NULL NULL - no_errors TROAP HGNC ENSG00000135451 124 0 0 102 12 10.5263 NAP1L1 0 genome.wustl.edu 37 12 76449896 76449896 + Nonsense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 76449896 76449896 C A SNP NAP1L1 ENST00000261182 human ensembl 74_37 -1 known nonsense c.475 p.E159* 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 60 0 0 32 5 13.5135 HAL 0 genome.wustl.edu 37 12 96377755 96377755 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 12 96377755 96377755 C T SNP HAL ENST00000261208 human ensembl 74_37 -1 known silent c.1221 p.V407 0.998 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 52 0 0 37 4 9.7561 DAOA 0 genome.wustl.edu 37 13 106119489 106119489 + Missense_Mutation SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 13 106119489 106119489 T G SNP DAOA ENST00000375936 human ensembl 74_37 +1 known missense c.132 p.I44M 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 93 0 0 74 10 11.9048 FLT1 0 genome.wustl.edu 37 13 29001982 29001982 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 13 29001982 29001982 C T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.1183 p.V395I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 85 0 0 68 6 8.10811 TRPC4 0 genome.wustl.edu 37 13 38211356 38211356 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 13 38211356 38211356 C T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2633 p.R878H 0.981 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 55 0 0 39 8 17.0213 NPAS3 0 genome.wustl.edu 37 14 33684530 33684530 + Silent SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 14 33684530 33684530 C A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known silent c.283 p.R95 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 122 0 0 99 14 12.3894 TGM7 0 genome.wustl.edu 37 15 43577123 43577123 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 15 43577123 43577123 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.893 p.R298H 1.000 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 88 0 0 58 11 15.942 CLK3 0 genome.wustl.edu 37 15 74912538 74912538 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 15 74912538 74912538 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.785 p.R262H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 174 0 0 123 12 8.88889 LYRM1 0 genome.wustl.edu 37 16 20926917 20926917 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 16 20926917 20926917 C T SNP LYRM1 ENST00000219168 human ensembl 74_37 +1 known missense c.40 p.R14C 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors LYRM1 HGNC ENSG00000102897 138 0 0 126 14 10 RANBP10 0 genome.wustl.edu 37 16 67762350 67762350 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 16 67762350 67762350 G A SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known missense c.1417 p.R473C 0.986 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 62 0 0 61 4 6.15385 DDX28 0 genome.wustl.edu 37 16 68056517 68056517 + Missense_Mutation SNP C C G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 16 68056517 68056517 C G SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.589 p.D197H 0.002 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 100 0 0 50 20 28.5714 MYH1 0 genome.wustl.edu 37 17 10408543 10408543 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 10408543 10408543 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.2372 p.R791Q 0.984 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 106 0 0 42 8 16 ZSWIM7 0 genome.wustl.edu 37 17 15890590 15890590 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 15890590 15890590 C T SNP ZSWIM7 ENST00000399277 human ensembl 74_37 -1 known missense c.191 p.R64H 0.002 NULL pfam_Znf_SWIM,pfscan_Znf_SWIM - no_errors ZSWIM7 HGNC ENSG00000214941 57 0 0 29 4 12.1212 FAM83G 0 genome.wustl.edu 37 17 18882956 18882956 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 18882956 18882956 C T SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.721 p.E241K 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 166 0 0 86 12 12.2449 DLX3 0 genome.wustl.edu 37 17 48069062 48069062 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 48069062 48069062 C T SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known missense c.683 p.R228H 0.994 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 47 0 0 31 8 20.5128 TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 7578526 7578526 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.404 p.C135Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 56 0 0 27 7 20.5882 CCDC40 0 genome.wustl.edu 37 17 78013951 78013951 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 17 78013951 78013951 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.434 p.A145V 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 57 0 0 36 6 14.2857 SALL3 0 genome.wustl.edu 37 18 76752182 76752182 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 18 76752182 76752182 C A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.191 p.A64E 0.959 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 20 0 0 10 9 47.3684 KCNN1 0 genome.wustl.edu 37 19 18092786 18092786 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 19 18092786 18092786 C T SNP KCNN1 ENST00000222249 human ensembl 74_37 +1 known missense c.767 p.S256L 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN1 HGNC ENSG00000105642 18 0 0 16 4 20 ZNF675 0 genome.wustl.edu 37 19 23844925 23844925 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 19 23844925 23844925 C T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.217 p.E73K 0.395 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF675 HGNC ENSG00000197372 142 0 0 125 11 8.08824 APLP1 0 genome.wustl.edu 37 19 36363501 36363501 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 19 36363501 36363501 C T SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.967 p.R323C 1.000 superfamily_Amyloid_glyco_E2_domain,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 102 0 0 91 10 9.90099 POTEE 0 genome.wustl.edu 37 2 131976323 131976323 + Missense_Mutation SNP G G C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 131976323 131976323 G C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.348 p.K116N 0.001 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 145 0 0 94 32 25.3968 POTEE 0 genome.wustl.edu 37 2 131976365 131976365 + Missense_Mutation SNP G G T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 131976365 131976365 G T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.390 p.E130D 0.000 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 143 0 0 77 18 18.9474 GALNT5 0 genome.wustl.edu 37 2 158167802 158167802 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 158167802 158167802 C T SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known missense c.2765 p.A922V 0.877 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 77 0 0 76 6 7.31707 ANKRD44 0 genome.wustl.edu 37 2 197987478 197987478 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 197987478 197987478 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.514 p.A172T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 58 0 0 32 6 15.7895 C2orf43 0 genome.wustl.edu 37 2 20990056 20990056 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 20990056 20990056 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.257 p.A86V 0.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 157 0 0 151 8 5.03145 TEKT4 0 genome.wustl.edu 37 2 95539774 95539774 + Missense_Mutation SNP A A C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 95539774 95539774 A C SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.634 p.I212L 0.966 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 113 1 0.877193 113 6 5.04202 JAG1 0 genome.wustl.edu 37 20 10626625 10626625 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 20 10626625 10626625 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1993 p.E665K 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 111 0 0 110 11 9.09091 C20orf26 0 genome.wustl.edu 37 20 20144800 20144800 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 20 20144800 20144800 G A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1133 p.R378H 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 101 0 0 74 28 27.451 LZTS3 0 genome.wustl.edu 37 20 3146981 3146981 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 20 3146981 3146981 G A SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.485 p.S162L 0.992 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 30 0 0 30 6 16.6667 BPIFB3 0 genome.wustl.edu 37 20 31644485 31644485 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 20 31644485 31644485 G A SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known missense c.262 p.V88I 0.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 71 0 0 49 16 24.6154 CYP24A1 0 genome.wustl.edu 37 20 52773733 52773733 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 20 52773733 52773733 C T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known silent c.1530 p.A510 0.264 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 23 0 0 36 4 10 OLIG2 0 genome.wustl.edu 37 21 34399178 34399178 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 21 34399178 34399178 C T SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known missense c.8 p.S3L 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 49 0 0 38 3 7.31707 DIP2A 0 genome.wustl.edu 37 21 47918652 47918652 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 21 47918652 47918652 G A SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known silent c.561 p.P187 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 105 0 0 86 7 7.52688 SNAP29 0 genome.wustl.edu 37 22 21224688 21224688 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 22 21224688 21224688 G A SNP SNAP29 ENST00000215730 human ensembl 74_37 +1 known missense c.301 p.D101N 1.000 smart_T_SNARE_dom pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP29 HGNC ENSG00000099940 100 1 0.990099 74 7 8.64198 CBX6 0 genome.wustl.edu 37 22 39262882 39262882 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 22 39262882 39262882 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.571 p.G191R 0.012 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 25 0 0 26 12 31.5789 BOC 0 genome.wustl.edu 37 3 112998786 112998786 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 112998786 112998786 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.2139 p.P713 0.002 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 81 0 0 48 19 28.3582 TAMM41 0 genome.wustl.edu 37 3 11880697 11880697 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 11880697 11880697 G A SNP TAMM41 ENST00000273037 human ensembl 74_37 -1 known missense c.410 p.P137L 1.000 pfam_Mmp37,pirsf_Mmp37 pfam_Mmp37,pirsf_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 70 0 0 54 3 5.26316 CCDC39 0 genome.wustl.edu 37 3 180397169 180397169 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 180397169 180397169 G A SNP CCDC39 ENST00000273654 human ensembl 74_37 -1 known silent c.252 p.V84 0.569 NULL superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 222 0 0 162 19 10.4972 SENP2 0 genome.wustl.edu 37 3 185335332 185335332 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 185335332 185335332 C T SNP SENP2 ENST00000296257 human ensembl 74_37 +1 known missense c.1175 p.A392V 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP2 HGNC ENSG00000163904 72 0 0 52 9 14.7541 RHOA 0 genome.wustl.edu 37 3 49405963 49405963 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 49405963 49405963 C A SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.175 p.D59Y 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,prints_Small_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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 120 0 0 67 13 16.25 RHOA 0 genome.wustl.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 3 49412898 49412898 T G SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.125 p.Y42S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 201 0 0 111 17 13.2812 ENPEP 0 genome.wustl.edu 37 4 111398070 111398070 + Missense_Mutation SNP A A C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 4 111398070 111398070 A C SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.500 p.E167A 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 221 0 0 117 19 13.9706 OTUD4 0 genome.wustl.edu 37 4 146062624 146062624 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 4 146062624 146062624 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1990 p.P664S 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 89 0 0 84 7 7.69231 NEK1 0 genome.wustl.edu 37 4 170506564 170506564 + Nonsense_Mutation SNP G G T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 4 170506564 170506564 G T SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known nonsense c.743 p.S248* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 49 0 0 53 3 5.35714 PDCL2 0 genome.wustl.edu 37 4 56448359 56448359 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 4 56448359 56448359 C T SNP PDCL2 ENST00000295645 human ensembl 74_37 -1 known missense c.52 p.G18S 1.000 superfamily_Thioredoxin-like_fold pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold - no_errors PDCL2 HGNC ENSG00000163440 86 0 0 64 8 11.1111 DTWD2 0 genome.wustl.edu 37 5 118324204 118324204 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 5 118324204 118324204 C A SNP DTWD2 ENST00000510708 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_DTW - no_errors DTWD2 HGNC ENSG00000169570 35 0 0 25 2 7.40741 DNAH5 0 genome.wustl.edu 37 5 13885264 13885264 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 5 13885264 13885264 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.2817 p.T939 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 94 0 0 67 20 22.9885 PCDHB3 0 genome.wustl.edu 37 5 140481829 140481829 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 5 140481829 140481829 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1596 p.G532 0.102 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 95 0 0 85 13 13.2653 PCDHB7 0 genome.wustl.edu 37 5 140554097 140554097 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 5 140554097 140554097 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1681 p.V561M 0.980 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 96 0 0 69 5 6.75676 ERAP1 0 genome.wustl.edu 37 5 96129593 96129593 + Missense_Mutation SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 5 96129593 96129593 T G SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.987 p.E329D 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 71 0 0 37 3 7.5 LAMA2 0 genome.wustl.edu 37 6 129823901 129823901 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 6 129823901 129823901 C A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8342 p.T2781N 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 83 0 0 41 12 22.6415 AKAP12 0 genome.wustl.edu 37 6 151670244 151670244 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 6 151670244 151670244 G A SNP AKAP12 ENST00000253332 human ensembl 74_37 +1 known missense c.718 p.E240K 0.003 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 120 0 0 64 18 21.9512 HIST1H1A 0 genome.wustl.edu 37 6 26017492 26017492 + Missense_Mutation SNP T T C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 6 26017492 26017492 T C SNP HIST1H1A ENST00000244573 human ensembl 74_37 -1 known missense c.469 p.K157E 0.992 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 241 0 0 179 21 10.5 PLXNA4 0 genome.wustl.edu 37 7 131878892 131878892 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 131878892 131878892 A G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2785 p.F929L 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 141 0 0 109 13 10.6557 TRPV6 0 genome.wustl.edu 37 7 142569461 142569461 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 142569461 142569461 C T SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known silent c.2177 p.*726 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 121 0 0 107 8 6.95652 EGFR 0 genome.wustl.edu 37 7 55211010 55211010 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 55211010 55211010 G A SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.253 p.V85M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 103 0 0 119 9 7.03125 ZNF479 0 genome.wustl.edu 37 7 57187764 57187764 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 57187764 57187764 G A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1358 p.T453I 0.000 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 ZNF479 HGNC ENSG00000185177 100 0 0 111 13 10.4839 NSUN5P2 0 genome.wustl.edu 37 7 72419464 72419464 + RNA SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 72419464 72419464 T G SNP NSUN5P2 ENST00000388955 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NSUN5P2 HGNC ENSG00000106133 32 0 0 22 4 15.3846 DTX2 0 genome.wustl.edu 37 7 76126705 76126705 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 7 76126705 76126705 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.1061 p.R354H 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 124 0 0 122 30 19.7368 ADRA1A 0 genome.wustl.edu 37 8 26627887 26627887 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 8 26627887 26627887 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.1180 p.V394I 1.000 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 138 0 0 92 14 13.2075 RP1 0 genome.wustl.edu 37 8 55539912 55539912 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 8 55539912 55539912 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.3470 p.S1157F 0.515 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 68 0 0 40 8 16.6667 RUNX1T1 0 genome.wustl.edu 37 8 93004103 93004103 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 8 93004103 93004103 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.788 p.G263D 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 56 0 0 33 5 13.1579 FAM163B 0 genome.wustl.edu 37 9 136444287 136444287 + Missense_Mutation SNP G G C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 9 136444287 136444287 G C SNP FAM163B ENST00000356873 human ensembl 74_37 -1 known missense c.358 p.R120G 1.000 NULL NULL - no_errors FAM163B HGNC ENSG00000196990 12 0 0 12 3 20 TAF1L 0 genome.wustl.edu 37 9 32630240 32630240 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 9 32630240 32630240 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.5338 p.E1780K 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 140 0 0 100 17 14.5299 PGM5 0 genome.wustl.edu 37 9 71002420 71002420 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 9 71002420 71002420 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.613 p.R205W 0.971 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 101 0 0 94 26 21.6667 F8 0 genome.wustl.edu 37 X 154197692 154197692 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d X 154197692 154197692 G A SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.923 p.S308L 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 73 0 0 52 19 26.7606 PHEX 0 genome.wustl.edu 37 X 22263519 22263519 + Nonsense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d X 22263519 22263519 C T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known nonsense c.2140 p.Q714* 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 88 0 0 76 6 7.31707 DMD 0 genome.wustl.edu 37 X 31792190 31792190 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d X 31792190 31792190 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.7429 p.R2477W 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 61 0 0 25 40 61.5385 MAGEE2 0 genome.wustl.edu 37 X 75004703 75004703 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d X 75004703 75004703 C A SNP MAGEE2 ENST00000373359 human ensembl 74_37 -1 known missense c.184 p.V62F 0.013 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 34 0 0 21 8 27.5862 ZNF329 0 genome.wustl.edu 37 19 58640848 58640850 + In_Frame_Del DEL CGA CGA - TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 CGA CGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 19 58640848 58640850 CGA - DEL ZNF329 ENST00000358067 human ensembl 74_37 -1 known in_frame_del c.23_21 p.R8in_frame_del 0.981:0.973:0.965 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 203 0 0 147 37 20.1087 ZFP36L2 0 genome.wustl.edu 37 2 43452831 43452832 + Frame_Shift_Ins INS - - C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d 2 43452831 43452832 - C INS ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known frame_shift_ins c.112_111 p.T37fs 1.000:0.993 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 28 0 0 18 7 28