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 VAV3 0 genome.wustl.edu 37 1 108185301 108185301 + Missense_Mutation SNP C C G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 108185301 108185301 C G SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.1854 p.Q618H 0.844 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 122 0 0 116 7 5.69106 SELE 0 genome.wustl.edu 37 1 169695870 169695870 + Missense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 169695870 169695870 G T SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.1723 p.L575I 0.998 NULL pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 41 0 0 24 12 33.3333 PLEKHA6 0 genome.wustl.edu 37 1 204198209 204198209 + Silent SNP A A G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 204198209 204198209 A G SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known silent c.2607 p.H869 0.959 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 74 0 0 56 6 9.67742 NFASC 0 genome.wustl.edu 37 1 204951139 204951139 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 204951139 204951139 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2461 p.G821R 0.999 superfamily_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 NFASC HGNC ENSG00000163531 27 0 0 16 4 20 AIM1L 0 genome.wustl.edu 37 1 26664036 26664036 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 26664036 26664036 C T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.1015 p.G339R 0.992 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 106 0 0 52 4 7.14286 RCC1 0 genome.wustl.edu 37 1 28864431 28864431 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 28864431 28864431 G A SNP RCC1 ENST00000373831 human ensembl 74_37 +1 known missense c.1271 p.G424D 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC ENSG00000180198 33 0 0 24 2 7.69231 MEGF6 0 genome.wustl.edu 37 1 3428608 3428608 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 3428608 3428608 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.938 p.A313V 0.015 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 136 0 0 67 9 11.8421 ZFP69 0 genome.wustl.edu 37 1 40947451 40947451 + Silent SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 40947451 40947451 T C SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known silent c.144 p.D48 0.996 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 136 0 0 57 31 35.2273 SLC6A9 0 genome.wustl.edu 37 1 44466606 44466606 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 44466606 44466606 G A SNP SLC6A9 ENST00000372306 human ensembl 74_37 -1 putative missense c.1457 p.P486L 0.031 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 112 0 0 66 5 7.04225 CPT2 0 genome.wustl.edu 37 1 53676469 53676469 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 53676469 53676469 G A SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known missense c.1123 p.G375S 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 61 0 0 30 9 23.0769 DPYD 0 genome.wustl.edu 37 1 97981294 97981294 + Missense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 1 97981294 97981294 G T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1728 p.F576L 1.000 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 48 0 0 40 9 18.3673 VENTX 0 genome.wustl.edu 37 10 135053262 135053262 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 10 135053262 135053262 C T SNP VENTX ENST00000325980 human ensembl 74_37 +1 known silent c.324 p.G108 0.541 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VENTX HGNC ENSG00000151650 69 0 0 44 16 26.6667 PGA3 0 genome.wustl.edu 37 11 60975078 60975078 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 11 60975078 60975078 C T SNP PGA3 ENST00000325558 human ensembl 74_37 +1 known silent c.447 p.D149 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA3 HGNC ENSG00000229859 64 0 0 49 6 10.9091 B3GAT3 0 genome.wustl.edu 37 11 62384806 62384806 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 11 62384806 62384806 C T SNP B3GAT3 ENST00000265471 human ensembl 74_37 -1 known missense c.271 p.A91T 1.000 NULL pfam_Glyco_trans_43 - no_errors B3GAT3 HGNC ENSG00000149541 78 0 0 50 7 12.2807 IL18BP 0 genome.wustl.edu 37 11 71712875 71712875 + Missense_Mutation SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 11 71712875 71712875 T C SNP IL18BP ENST00000260049 human ensembl 74_37 +1 known missense c.553 p.S185P 0.668 NULL pfscan_Ig-like_dom - no_errors IL18BP HGNC ENSG00000137496 60 0 0 58 12 17.1429 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 127 0 0 44 28 38.8889 C12orf55 0 genome.wustl.edu 37 12 97082748 97082748 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 12 97082748 97082748 G A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.6069 p.A2023 0.986 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 44 0 0 74 15 16.8539 SPG20 0 genome.wustl.edu 37 13 36909408 36909408 + Missense_Mutation SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 13 36909408 36909408 T C SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.560 p.Y187C 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 74 0 0 24 55 69.6203 KLC1 0 genome.wustl.edu 37 14 104142035 104142035 + Missense_Mutation SNP A A G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 14 104142035 104142035 A G SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known missense c.1321 p.K441E 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 103 0 0 76 26 25.4902 JAG2 0 genome.wustl.edu 37 14 105615648 105615648 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 14 105615648 105615648 C T SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.1612 p.D538N 0.995 smart_EGF-like_Ca-bd_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,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 176 0 0 109 7 6.03448 MDGA2 0 genome.wustl.edu 37 14 47389321 47389321 + Missense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 14 47389321 47389321 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2132 p.P711Q 0.999 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 65 0 0 51 30 37.037 SERPINA9 0 genome.wustl.edu 37 14 94936109 94936109 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 14 94936109 94936109 C T SNP SERPINA9 ENST00000538527 human ensembl 74_37 -1 known missense c.205 p.G69S 0.000 NULL NULL - no_errors SERPINA9 HGNC ENSG00000170054 147 0 0 51 30 37.037 VPS13C 0 genome.wustl.edu 37 15 62204164 62204164 + Nonsense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 15 62204164 62204164 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known nonsense c.8590 p.R2864* 0.507 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 50 0 0 50 24 32.4324 HCFC1R1 0 genome.wustl.edu 37 16 3072997 3072997 + Missense_Mutation SNP C C A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 16 3072997 3072997 C A SNP HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known missense c.284 p.S95I 0.711 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 52 0 0 22 3 12 FA2H 0 genome.wustl.edu 37 16 74750396 74750396 + Silent SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 16 74750396 74750396 T C SNP FA2H ENST00000219368 human ensembl 74_37 -1 known silent c.888 p.V296 0.990 pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 51 0 0 29 4 12.1212 IRF8 0 genome.wustl.edu 37 16 85948095 85948095 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 16 85948095 85948095 G A SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known silent c.570 p.T190 0.012 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 67 0 0 41 15 26.7857 SMYD4 0 genome.wustl.edu 37 17 1690239 1690239 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 17 1690239 1690239 G A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.1749 p.A583 0.251 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 33 0 0 35 12 25.5319 TANC2 0 genome.wustl.edu 37 17 61417589 61417589 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 17 61417589 61417589 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.1481 p.R494Q 1.000 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 123 0 0 96 11 10.2804 AZI1 0 genome.wustl.edu 37 17 79167923 79167923 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 17 79167923 79167923 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known silent c.2133 p.L711 1.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 27 0 0 5 6 54.5455 SMAD4 0 genome.wustl.edu 37 18 48593397 48593397 + Missense_Mutation SNP T T G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 18 48593397 48593397 T G SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1148 p.I383R 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 86 0 0 45 24 34.7826 CDH7 0 genome.wustl.edu 37 18 63477134 63477134 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 18 63477134 63477134 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.405 p.P135 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 95 0 0 83 26 23.8532 CDH19 0 genome.wustl.edu 37 18 64172357 64172357 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 18 64172357 64172357 G A SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.2011 p.R671W 0.171 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 191 0 0 140 41 22.6519 TSHZ1 0 genome.wustl.edu 37 18 72998004 72998004 + Silent SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 18 72998004 72998004 T C SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.642 p.Y214 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 38 0 0 23 4 14.8148 COL5A3 0 genome.wustl.edu 37 19 10097410 10097410 + Nonsense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 10097410 10097410 G A SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known nonsense c.2170 p.Q724* 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 217 0 0 122 72 37.1134 NDUFS7 0 genome.wustl.edu 37 19 1395423 1395423 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 1395423 1395423 G A SNP NDUFS7 ENST00000233627 human ensembl 74_37 +1 known missense c.578 p.G193D 1.000 pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su - no_errors NDUFS7 HGNC ENSG00000115286 19 0 0 14 2 12.5 EMR3 0 genome.wustl.edu 37 19 14749084 14749084 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 14749084 14749084 C T SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known silent c.1317 p.L439 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 100 0 0 78 22 22 UNC13A 0 genome.wustl.edu 37 19 17760371 17760371 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 17760371 17760371 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.1729 p.D577N 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 183 0 0 104 37 26.2411 ZNF257 0 genome.wustl.edu 37 19 22271542 22271542 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 22271542 22271542 C T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.990 p.A330 0.001 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 ZNF257 HGNC ENSG00000197134 75 0 0 49 3 5.76923 ZNF257 0 genome.wustl.edu 37 19 22271562 22271562 + Missense_Mutation SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 22271562 22271562 T C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.1010 p.I337T 0.990 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 ZNF257 HGNC ENSG00000197134 60 0 0 44 4 8.33333 DLL3 0 genome.wustl.edu 37 19 39998562 39998562 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 39998562 39998562 C T SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.1766 p.T589M 0.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 56 0 0 51 11 17.7419 NLRP7 0 genome.wustl.edu 37 19 55451629 55451629 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 55451629 55451629 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.642 p.T214 0.010 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 139 0 0 91 31 25.4098 ZNF667 0 genome.wustl.edu 37 19 56953317 56953317 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 56953317 56953317 C T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known silent c.1431 p.Q477 0.991 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 ZNF667 HGNC ENSG00000198046 79 0 0 135 8 5.59441 MUC16 0 genome.wustl.edu 37 19 9086045 9086045 + Missense_Mutation SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 19 9086045 9086045 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5770 p.T1924A 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 58 0 0 36 5 12.1951 GPR45 0 genome.wustl.edu 37 2 105858363 105858363 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 105858363 105858363 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known silent c.48 p.L16 0.778 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 155 1 0.641026 64 44 40.7407 ACVR1 0 genome.wustl.edu 37 2 158594066 158594066 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 158594066 158594066 C T SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known missense c.1507 p.D503N 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 46 0 0 38 18 32.1429 COL3A1 0 genome.wustl.edu 37 2 189856394 189856394 + Splice_Site SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 189856394 189856394 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known splice_site c.898-1 e13-1 1.000 - - - no_errors COL3A1 HGNC ENSG00000168542 201 0 0 127 36 22.0859 UGT1A8 0 genome.wustl.edu 37 2 234669132 234669132 + Missense_Mutation SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 234669132 234669132 T C SNP UGT1A8 ENST00000305208 human ensembl 74_37 +1 known missense c.199 p.Y67H 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A8 HGNC ENSG00000242366 107 0 0 112 21 15.7895 PNPT1 0 genome.wustl.edu 37 2 55907854 55907854 + Silent SNP T T C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 55907854 55907854 T C SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known silent c.558 p.G186 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 39 0 0 36 18 33.3333 CNRIP1 0 genome.wustl.edu 37 2 68520911 68520911 + RNA SNP C C A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 2 68520911 68520911 C A SNP CNRIP1 ENST00000481714 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CNRIP1 HGNC ENSG00000119865 45 0 0 32 6 15.7895 CHRNA4 0 genome.wustl.edu 37 20 61981063 61981063 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 20 61981063 61981063 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.1700 p.A567V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 112 0 0 84 36 30 APP 0 genome.wustl.edu 37 21 27264121 27264121 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 21 27264121 27264121 G A SNP APP ENST00000346798 human ensembl 74_37 -1 known silent c.2124 p.G708 0.453 pfam_Amyloid_glyco_Abeta,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 48 0 0 43 19 30.6452 C2CD2 0 genome.wustl.edu 37 21 43327793 43327793 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 21 43327793 43327793 C T SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known silent c.1119 p.S373 0.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 49 0 0 23 4 14.8148 IL17RA 0 genome.wustl.edu 37 22 17589441 17589441 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 22 17589441 17589441 C T SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known silent c.1332 p.I444 0.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 99 0 0 49 21 30 RHO 0 genome.wustl.edu 37 3 129251585 129251585 + Missense_Mutation SNP C C A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 129251585 129251585 C A SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.906 p.N302K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 77 0 0 49 19 27.9412 PIK3CA 0 genome.wustl.edu 37 3 178916726 178916726 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 178916726 178916726 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.113 p.R38H 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 71 0 0 82 12 12.766 DLEC1 0 genome.wustl.edu 37 3 38080788 38080788 + Missense_Mutation SNP G G C TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 38080788 38080788 G C SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.72 p.W24C 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 112 0 0 77 5 6.09756 SCN5A 0 genome.wustl.edu 37 3 38592950 38592950 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 38592950 38592950 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4913 p.R1638Q 0.997 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 220 0 0 108 34 23.9437 KLHL18 0 genome.wustl.edu 37 3 47378131 47378131 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 47378131 47378131 C T SNP KLHL18 ENST00000232766 human ensembl 74_37 +1 known silent c.1005 p.N335 0.986 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL18 HGNC ENSG00000114648 85 0 0 51 19 27.1429 DALRD3 0 genome.wustl.edu 37 3 49053945 49053945 + Splice_Site SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 3 49053945 49053945 C T SNP DALRD3 ENST00000341949 human ensembl 74_37 -1 known splice_site c.1064-1 e8-1 1.000 - - - no_errors DALRD3 HGNC ENSG00000178149 63 0 0 25 7 21.875 DAPP1 0 genome.wustl.edu 37 4 100784980 100784980 + Silent SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 4 100784980 100784980 C T SNP DAPP1 ENST00000512369 human ensembl 74_37 +1 known silent c.654 p.F218 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 8 0 0 6 6 50 RNF175 0 genome.wustl.edu 37 4 154633709 154633709 + Nonsense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 4 154633709 154633709 G A SNP RNF175 ENST00000347063 human ensembl 74_37 -1 known nonsense c.784 p.R262* 1.000 smart_Znf_RING,pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors RNF175 HGNC ENSG00000145428 22 0 0 16 4 20 GALNTL6 0 genome.wustl.edu 37 4 173269789 173269789 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 4 173269789 173269789 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.502 p.P168S 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 106 0 0 72 35 32.7103 WWC2 0 genome.wustl.edu 37 4 184182161 184182161 + Missense_Mutation SNP A A G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 4 184182161 184182161 A G SNP WWC2 ENST00000448232 human ensembl 74_37 +1 known missense c.1385 p.N462S 0.986 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC2 HGNC ENSG00000151718 36 0 0 24 8 25 DEFB131 0 genome.wustl.edu 37 4 9452179 9452179 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 4 9452179 9452179 C T SNP DEFB131 ENST00000334879 human ensembl 74_37 +1 known missense c.152 p.A51V 0.171 NULL NULL - no_errors DEFB131 HGNC ENSG00000186146 19 0 0 27 6 18.1818 FBN2 0 genome.wustl.edu 37 5 127693009 127693009 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 5 127693009 127693009 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.2633 p.S878L 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 49 0 0 41 20 32.7869 FAT2 0 genome.wustl.edu 37 5 150945699 150945699 + Silent SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 5 150945699 150945699 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.2794 p.L932 0.776 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 47 0 0 34 4 10.5263 FBXL7 0 genome.wustl.edu 37 5 15936847 15936847 + Missense_Mutation SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 5 15936847 15936847 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1028 p.R343Q 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 30 0 0 27 6 18.1818 RTN4IP1 0 genome.wustl.edu 37 6 107070695 107070695 + Nonsense_Mutation SNP C C A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 6 107070695 107070695 C A SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known nonsense c.424 p.E142* 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 29 0 0 11 7 38.8889 ELOVL2 0 genome.wustl.edu 37 6 10990028 10990028 + Missense_Mutation SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 6 10990028 10990028 C T SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.673 p.V225M 0.992 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 133 0 0 72 27 27.2727 UST 0 genome.wustl.edu 37 6 149395273 149395273 + RNA SNP G G A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 6 149395273 149395273 G A SNP UST ENST00000466695 human ensembl 74_37 +1 known rna NULL NULL 0.898 - - - no_errors UST HGNC ENSG00000111962 71 0 0 37 8 17.7778 PRSS3P2 0 genome.wustl.edu 37 7 142479940 142479940 + RNA SNP C C T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 7 142479940 142479940 C T SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 0.933 - - - no_errors PRSS3P2 HGNC ENSG00000250606 47 0 0 44 5 10.2041 ZNF425 0 genome.wustl.edu 37 7 148800964 148800964 + Missense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 7 148800964 148800964 G T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.1999 p.Q667K 0.024 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 205 0 0 143 47 24.7368 STK31 0 genome.wustl.edu 37 7 23749944 23749944 + Nonsense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 7 23749944 23749944 G T SNP STK31 ENST00000355870 human ensembl 74_37 +1 known nonsense c.40 p.E14* 0.000 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 92 0 0 34 7 17.0732 VWC2 0 genome.wustl.edu 37 7 49815107 49815107 + Missense_Mutation SNP C C A TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 7 49815107 49815107 C A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.76 p.L26M 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 20 0 0 11 5 31.25 ATP8B5P 0 genome.wustl.edu 37 9 35449972 35449972 + RNA SNP A A G TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 9 35449972 35449972 A G SNP ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.458 - - - no_errors ATP8B5P HGNC ENSG00000179766 54 0 0 67 6 8.21918 EFNB1 0 genome.wustl.edu 37 X 68059543 68059543 + Missense_Mutation SNP G G T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba X 68059543 68059543 G T SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known missense c.443 p.R148L 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 19 0 0 15 2 11.7647 PFKP 0 genome.wustl.edu 37 10 3172106 3172106 + Frame_Shift_Del DEL G G - TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 10 3172106 3172106 G - DEL PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_del c.1779 p.L596fs 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 133 0 0 95 11 10.3774 MUC6 0 genome.wustl.edu 37 11 1019329 1019329 + Frame_Shift_Del DEL G G - TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 11 1019329 1019329 G - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.3976 p.R1326fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 103 0 0 60 41 40.5941 PCF11 0 genome.wustl.edu 37 11 82895917 82895918 + Frame_Shift_Del DEL AC AC - TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 11 82895917 82895918 AC - DEL PCF11 ENST00000298281 human ensembl 74_37 +1 known frame_shift_del c.4649_4650 p.T1551fs 1.000:0.999 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 18 0 0 9 2 18.1818 TCF12 0 genome.wustl.edu 37 15 57545542 57545543 + Frame_Shift_Ins INS - - T TCGA-HU-A4G2-01A-11D-A25D-08 TCGA-HU-A4G2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 081af5fd-49ba-4fe3-bebb-a190369fcf46 288dfcd7-431b-47e5-b7ed-9ef1e3eb46ba 15 57545542 57545543 - T INS TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_ins c.1343_1344 p.L449fs 1.000:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 109 0 0 61 23 27.381