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 KAZN 0 genome.wustl.edu 37 1 15386799 15386799 + Splice_Site SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 15386799 15386799 G A SNP KAZN ENST00000376030 human ensembl 74_37 +1 known splice_site c.1047+1 e6+1 1.000 - - - no_errors KAZN HGNC ENSG00000189337 109 0 0 95 22 18.8034 MNDA 0 genome.wustl.edu 37 1 158813155 158813155 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 158813155 158813155 G A SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.352 p.A118T 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 15 0 0 20 3 13.0435 GPR161 0 genome.wustl.edu 37 1 168066199 168066199 + Missense_Mutation SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 168066199 168066199 T C SNP GPR161 ENST00000537209 human ensembl 74_37 -1 known missense c.706 p.R236G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 46 0 0 51 24 32 LAMC1 0 genome.wustl.edu 37 1 183094538 183094538 + Missense_Mutation SNP A A C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 183094538 183094538 A C SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2654 p.N885T 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 98 0 0 93 17 15.4545 ZYG11B 0 genome.wustl.edu 37 1 53262458 53262458 + Splice_Site SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 53262458 53262458 T C SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known splice_site c.1485+2 e8+2 1.000 - - - no_errors ZYG11B HGNC ENSG00000162378 62 0 0 58 10 14.7059 SORCS3 0 genome.wustl.edu 37 10 106970990 106970990 + Missense_Mutation SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 10 106970990 106970990 G T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2357 p.S786I 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 35 0 0 31 13 29.5455 PWWP2B 0 genome.wustl.edu 37 10 134219292 134219292 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 10 134219292 134219292 G A SNP PWWP2B ENST00000305233 human ensembl 74_37 +1 known missense c.1288 p.E430K 1.000 NULL pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors PWWP2B HGNC ENSG00000171813 27 0 0 19 12 38.7097 PRKCQ 0 genome.wustl.edu 37 10 6520982 6520982 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 10 6520982 6520982 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1325 p.T442M 0.996 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,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 60 0 0 52 14 21.2121 MICALCL 0 genome.wustl.edu 37 11 12316180 12316180 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 11 12316180 12316180 G A SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1202 p.R401K 0.475 smart_ProQ/FinO pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 130 0 0 109 23 17.4242 VWCE 0 genome.wustl.edu 37 11 61058792 61058792 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 11 61058792 61058792 C T SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.239 p.C80Y 1.000 smart_EG-like_dom pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 23 0 0 31 2 6.06061 SCGB1D4 0 genome.wustl.edu 37 11 62064987 62064987 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 11 62064987 62064987 C T SNP SCGB1D4 ENST00000358585 human ensembl 74_37 -1 known missense c.199 p.D67N 0.001 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D4 HGNC ENSG00000197745 254 0 0 214 50 18.9394 FAT3 0 genome.wustl.edu 37 11 92532764 92532764 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 11 92532764 92532764 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.6585 p.V2195 1.000 pfam_Cadherin,superfamily_Cadherin-like,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 22 0 0 19 4 17.3913 TMEM132D 0 genome.wustl.edu 37 12 129558572 129558572 + Missense_Mutation SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 12 129558572 129558572 A G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.3148 p.F1050L 0.998 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 59 0 0 69 13 15.8537 MIPEP 0 genome.wustl.edu 37 13 24384033 24384033 + Missense_Mutation SNP A A C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 13 24384033 24384033 A C SNP MIPEP ENST00000382172 human ensembl 74_37 -1 known missense c.1684 p.C562G 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 104 0 0 71 18 20.2247 USPL1 0 genome.wustl.edu 37 13 31231880 31231880 + Missense_Mutation SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 13 31231880 31231880 G T SNP USPL1 ENST00000255304 human ensembl 74_37 +1 known missense c.1666 p.A556S 0.000 NULL pfscan_Peptidase_C19/C67 - no_errors USPL1 HGNC ENSG00000132952 173 0 0 300 29 8.81459 KL 0 genome.wustl.edu 37 13 33638175 33638175 + Missense_Mutation SNP C C A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 13 33638175 33638175 C A SNP KL ENST00000380099 human ensembl 74_37 +1 known missense c.2891 p.P964Q 1.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 90 0 0 90 190 67.8571 OR4K1 0 genome.wustl.edu 37 14 20404281 20404281 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 20404281 20404281 C T SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.456 p.G152 0.159 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 91 0 0 72 21 22.5806 CHD8 0 genome.wustl.edu 37 14 21899993 21899993 + RNA SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 21899993 21899993 T C SNP CHD8 ENST00000553651 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CHD8 HGNC ENSG00000100888 38 0 0 42 16 27.5862 MDGA2 0 genome.wustl.edu 37 14 47314968 47314968 + Splice_Site SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 47314968 47314968 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known splice_site c.2989+1 e16+1 1.000 - - - no_errors MDGA2 Uniprot_gn ENSG00000272781 59 0 0 30 20 40 NIN 0 genome.wustl.edu 37 14 51219348 51219348 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 51219348 51219348 C T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.4838 p.R1613H 0.998 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 206 0 0 158 39 19.797 RGS6 0 genome.wustl.edu 37 14 72941366 72941366 + Nonsense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 72941366 72941366 C T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known nonsense c.652 p.R218* 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 47 0 0 41 9 18 EIF2B2 0 genome.wustl.edu 37 14 75469999 75469999 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 14 75469999 75469999 G A SNP EIF2B2 ENST00000266126 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 31 0 0 26 3 10.3448 GABRB3 0 genome.wustl.edu 37 15 26793117 26793117 + Missense_Mutation SNP G G C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 15 26793117 26793117 G C SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.1245 p.F415L 0.082 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 46 0 0 43 7 14 SLC12A1 0 genome.wustl.edu 37 15 48533736 48533736 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 15 48533736 48533736 G A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1240 p.G414R 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 203 0 0 180 32 15.0943 EFTUD1P1 0 genome.wustl.edu 37 15 84770845 84770845 + RNA SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 15 84770845 84770845 G A SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 45 0 0 43 6 12.2449 DNAH3 0 genome.wustl.edu 37 16 21073986 21073986 + Silent SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 16 21073986 21073986 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.3537 p.N1179 0.979 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 29 0 0 24 10 29.4118 RGS11 0 genome.wustl.edu 37 16 320806 320806 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 16 320806 320806 G A SNP RGS11 ENST00000397770 human ensembl 74_37 -1 known missense c.1004 p.A335V 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS11 HGNC ENSG00000076344 32 0 0 19 7 26.9231 DNAH9 0 genome.wustl.edu 37 17 11532791 11532791 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 11532791 11532791 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.1408 p.V470I 0.309 pfam_Dynein_heavy_dom-1 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 DNAH9 HGNC ENSG00000007174 84 0 0 93 18 16.2162 FLJ36000 0 genome.wustl.edu 37 17 21906514 21906514 + RNA SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 21906514 21906514 A G SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 10 0 0 5 3 37.5 SGK494 0 genome.wustl.edu 37 17 26940280 26940280 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 26940280 26940280 C T SNP SGK494 ENST00000301037 human ensembl 74_37 -1 known silent c.408 p.K136 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 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 SGK494 Clone_based_vega_gene ENSG00000167524 54 0 0 57 6 9.52381 PLEKHM1P 0 genome.wustl.edu 37 17 62820746 62820746 + RNA SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 62820746 62820746 G T SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 10 0 0 7 10 58.8235 TP53 0 genome.wustl.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 7574018 7574018 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1009 p.R337C 0.692 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 42 0 0 19 15 44.1176 CHD3 0 genome.wustl.edu 37 17 7809236 7809236 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 7809236 7809236 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.4287 p.M1429I 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 92 0 0 89 12 11.8812 RPL26 0 genome.wustl.edu 37 17 8280949 8280949 + Missense_Mutation SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 8280949 8280949 T C SNP RPL26 ENST00000293842 human ensembl 74_37 -1 known missense c.371 p.K124R 1.000 superfamily_Translation_prot_SH3-like pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26 HGNC ENSG00000161970 71 0 0 46 13 22.0339 LOC644669 0 genome.wustl.edu 37 18 15325992 15325992 + RNA SNP C C A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 18 15325992 15325992 C A SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 30 0 0 38 8 17.3913 SMAD4 0 genome.wustl.edu 37 18 48591825 48591825 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 18 48591825 48591825 G A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.988 p.E330K 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 118 0 0 73 16 17.9775 CYP4F2 0 genome.wustl.edu 37 19 15989716 15989716 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 15989716 15989716 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.1428 p.A476 0.185 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 49 0 0 27 22 44.898 JAK3 0 genome.wustl.edu 37 19 17951134 17951134 + Missense_Mutation SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 17951134 17951134 T C SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1159 p.N387D 0.406 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 25 0 0 19 8 29.6296 RYR1 0 genome.wustl.edu 37 19 38939333 38939333 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 38939333 38939333 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.1002 p.G334 0.331 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 129 0 0 118 11 8.52713 SHANK1 0 genome.wustl.edu 37 19 51170296 51170296 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 51170296 51170296 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.4945 p.A1649T 0.630 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,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 SHANK1 HGNC ENSG00000161681 14 0 0 11 5 31.25 HAS1 0 genome.wustl.edu 37 19 52216778 52216778 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 52216778 52216778 C T SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1660 p.A554T 0.959 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 15 0 0 11 4 26.6667 BRSK1 0 genome.wustl.edu 37 19 55800942 55800942 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 55800942 55800942 C T SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.460 p.R154C 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 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 71 0 0 64 5 7.24638 MIR663B 0 genome.wustl.edu 37 2 133014556 133014556 + RNA SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 133014556 133014556 C T SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors MIR663B HGNC ENSG00000221288 38 0 0 44 10 18.5185 GTF3C3 0 genome.wustl.edu 37 2 197657782 197657782 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 197657782 197657782 C T SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known silent c.309 p.E103 0.968 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 41 0 0 43 3 6.52174 COQ10B 0 genome.wustl.edu 37 2 198327261 198327261 + Splice_Site SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 198327261 198327261 A G SNP COQ10B ENST00000263960 human ensembl 74_37 +1 known splice_site c.255-2 e3-2 1.000 - - - no_errors COQ10B HGNC ENSG00000115520 28 0 0 32 5 13.5135 MAP2 0 genome.wustl.edu 37 2 210560612 210560612 + Missense_Mutation SNP G G C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 210560612 210560612 G C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3718 p.E1240Q 0.989 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 54 0 0 51 9 15 IRS1 0 genome.wustl.edu 37 2 227662551 227662551 + Nonsense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 227662551 227662551 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known nonsense c.904 p.R302* 0.122 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 120 0 0 104 26 20 ANO7 0 genome.wustl.edu 37 2 242147068 242147068 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 2 242147068 242147068 G A SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1222 p.A408T 0.854 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 148 1 0.671141 90 76 45.7831 NDUFAF5 0 genome.wustl.edu 37 20 13775515 13775515 + Missense_Mutation SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 20 13775515 13775515 T C SNP NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known missense c.407 p.V136A 0.928 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase - no_errors NDUFAF5 HGNC ENSG00000101247 25 0 0 23 4 14.8148 SLC4A11 0 genome.wustl.edu 37 20 3209945 3209945 + RNA SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 20 3209945 3209945 C T SNP SLC4A11 ENST00000488544 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC4A11 HGNC ENSG00000088836 51 0 0 55 13 19.1176 CBFA2T2 0 genome.wustl.edu 37 20 32232209 32232209 + Silent SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 20 32232209 32232209 G A SNP CBFA2T2 ENST00000346541 human ensembl 74_37 +1 known silent c.1572 p.A524 0.031 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1 - no_errors CBFA2T2 HGNC ENSG00000078699 97 0 0 122 19 13.4752 FBXO7 0 genome.wustl.edu 37 22 32881120 32881120 + Missense_Mutation SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 22 32881120 32881120 G T SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.711 p.Q237H 1.000 pfam_FP_dom pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 79 0 0 66 23 25.8427 ZC3H7B 0 genome.wustl.edu 37 22 41752693 41752693 + Silent SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 22 41752693 41752693 G A SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known silent c.2562 p.K854 1.000 NULL pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 134 0 0 116 22 15.942 PANX2 0 genome.wustl.edu 37 22 50616142 50616142 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 22 50616142 50616142 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.1001 p.R334Q 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 107 1 0.925926 83 22 20.9524 PLXNB2 0 genome.wustl.edu 37 22 50728614 50728614 + Missense_Mutation SNP A A T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 22 50728614 50728614 A T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.400 p.Y134N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 17 0 0 18 11 37.931 C3orf22 0 genome.wustl.edu 37 3 126272213 126272213 + Missense_Mutation SNP C C G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 3 126272213 126272213 C G SNP C3orf22 ENST00000318225 human ensembl 74_37 -1 known missense c.21 p.K7N 0.002 NULL NULL - no_errors C3orf22 HGNC ENSG00000180697 256 0 0 144 111 43.5294 EHHADH 0 genome.wustl.edu 37 3 184911202 184911202 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 3 184911202 184911202 C T SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known silent c.984 p.S328 0.947 pfam_3-OHacyl-CoA_DH_NAD-bd pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 105 0 0 109 28 20.438 LOC220729 0 genome.wustl.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 3 197348634 197348634 G C SNP LOC220729 ENST00000414207 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 72 0 0 101 6 5.60748 CADM2 0 genome.wustl.edu 37 3 85775696 85775696 + Missense_Mutation SNP A A C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 3 85775696 85775696 A C SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.65 p.K22T 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 81 0 0 81 28 25.6881 COL8A1 0 genome.wustl.edu 37 3 99513454 99513454 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 3 99513454 99513454 C T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known missense c.709 p.R237W 0.998 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 92 0 0 68 18 20.9302 CCKAR 0 genome.wustl.edu 37 4 26483541 26483541 + Silent SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 4 26483541 26483541 G T SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.1006 p.R336 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 63 0 0 52 11 17.4603 LPHN3 0 genome.wustl.edu 37 4 62845476 62845476 + Nonsense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 4 62845476 62845476 C T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known nonsense c.3001 p.R1001* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 96 0 0 86 16 15.6863 YTHDC1 0 genome.wustl.edu 37 4 69202911 69202911 + Silent SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 4 69202911 69202911 T C SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known silent c.717 p.E239 0.603 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 20 0 0 42 4 8.69565 C5orf20 0 genome.wustl.edu 37 5 134782298 134782298 + Silent SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 134782298 134782298 G A SNP C5orf20 ENST00000503143 human ensembl 74_37 -1 known silent c.501 p.S167 0.000 NULL NULL - no_errors C5orf20 HGNC ENSG00000251380 85 0 0 61 19 23.75 DNAH5 0 genome.wustl.edu 37 5 13753603 13753603 + Missense_Mutation SNP C C A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 13753603 13753603 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10611 p.E3537D 0.998 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 118 0 0 126 20 13.6986 DNAH5 0 genome.wustl.edu 37 5 13844951 13844951 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 13844951 13844951 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.5266 p.E1756K 1.000 pfam_Dynein_heavy_dom-2 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 219 0 0 175 21 10.7143 PCDHA6 0 genome.wustl.edu 37 5 140207815 140207815 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 140207815 140207815 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.139 p.R47W 0.954 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 78 0 0 76 15 16.4835 PCDHB10 0 genome.wustl.edu 37 5 140573466 140573466 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 140573466 140573466 C T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known silent c.1341 p.N447 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 143 0 0 97 28 22.4 PCDHB14 0 genome.wustl.edu 37 5 140604275 140604275 + Missense_Mutation SNP T T A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 140604275 140604275 T A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1198 p.F400I 0.812 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 107 0 0 102 21 17.0732 STK32A 0 genome.wustl.edu 37 5 146752830 146752830 + Missense_Mutation SNP G G C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 146752830 146752830 G C SNP STK32A ENST00000397936 human ensembl 74_37 +1 known missense c.876 p.K292N 1.000 superfamily_Kinase-like_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 - no_errors STK32A HGNC ENSG00000169302 46 0 0 62 8 11.4286 CDH10 0 genome.wustl.edu 37 5 24509821 24509821 + Missense_Mutation SNP T T C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 24509821 24509821 T C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1110 p.I370M 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 37 0 0 64 5 7.24638 CDH6 0 genome.wustl.edu 37 5 31318074 31318074 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 5 31318074 31318074 G A SNP CDH6 ENST00000514738 human ensembl 74_37 +1 putative missense c.1760 p.G587D 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 74 0 0 50 78 60.9375 LAMA4 0 genome.wustl.edu 37 6 112499358 112499358 + Missense_Mutation SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 6 112499358 112499358 A G SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.1154 p.V385A 0.647 pfam_Laminin_I pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 70 0 0 44 10 18.5185 BAI3 0 genome.wustl.edu 37 6 70070788 70070788 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 6 70070788 70070788 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3623 p.R1208Q 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 89 0 0 92 8 8 COL12A1 0 genome.wustl.edu 37 6 75828817 75828817 + Silent SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 6 75828817 75828817 G T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.7296 p.V2432 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 94 0 0 48 9 15.7895 MOGAT3 0 genome.wustl.edu 37 7 100842085 100842085 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 100842085 100842085 C T SNP MOGAT3 ENST00000440203 human ensembl 74_37 -1 known silent c.315 p.P105 0.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT3 HGNC ENSG00000106384 102 0 0 113 14 11.0236 TMEM140 0 genome.wustl.edu 37 7 134849342 134849342 + Missense_Mutation SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 134849342 134849342 A G SNP TMEM140 ENST00000275767 human ensembl 74_37 +1 known missense c.149 p.Y50C 1.000 NULL NULL - no_errors TMEM140 HGNC ENSG00000146859 94 0 0 99 19 16.1017 CNTNAP2 0 genome.wustl.edu 37 7 147092772 147092772 + Missense_Mutation SNP A A C TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 147092772 147092772 A C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1570 p.I524L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 166 0 0 182 39 17.6471 CUL1 0 genome.wustl.edu 37 7 148451148 148451148 + Missense_Mutation SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 148451148 148451148 A G SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.221 p.K74R 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 36 0 0 28 2 6.66667 WBSCR17 0 genome.wustl.edu 37 7 70800611 70800611 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 70800611 70800611 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.314 p.P105L 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 55 0 0 50 13 20.6349 AP4M1 0 genome.wustl.edu 37 7 99699356 99699356 + Missense_Mutation SNP A A G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 7 99699356 99699356 A G SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.19 p.I7V 1.000 superfamily_Longin-like_dom,pirsf_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 56 0 0 51 17 25 PRKDC 0 genome.wustl.edu 37 8 48739274 48739274 + Missense_Mutation SNP C C G TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 8 48739274 48739274 C G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.8723 p.R2908P 0.809 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 28 0 0 25 2 7.40741 PXDNL 0 genome.wustl.edu 37 8 52721826 52721826 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 8 52721826 52721826 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.79 p.R27W 0.985 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 9 0 0 12 3 20 CHD7 0 genome.wustl.edu 37 8 61757606 61757606 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 8 61757606 61757606 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.5034 p.A1678 0.998 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 167 0 0 191 38 16.5939 TTPA 0 genome.wustl.edu 37 8 63973833 63973833 + Missense_Mutation SNP C C A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 8 63973833 63973833 C A SNP TTPA ENST00000260116 human ensembl 74_37 -1 known missense c.815 p.S272I 1.000 superfamily_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 52 0 0 58 10 14.7059 VCPIP1 0 genome.wustl.edu 37 8 67578740 67578740 + Missense_Mutation SNP T T A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 8 67578740 67578740 T A SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.454 p.M152L 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 125 0 0 100 21 17.3554 COL15A1 0 genome.wustl.edu 37 9 101824554 101824554 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 101824554 101824554 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.3559 p.D1187N 0.948 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 93 0 0 89 14 13.5922 HSDL2 0 genome.wustl.edu 37 9 115221775 115221775 + Silent SNP G G T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 115221775 115221775 G T SNP HSDL2 ENST00000262542 human ensembl 74_37 +1 known silent c.702 p.G234 0.843 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom - no_errors HSDL2 HGNC ENSG00000119471 131 0 0 123 24 16.3265 UBAC1 0 genome.wustl.edu 37 9 138838155 138838155 + Silent SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 138838155 138838155 C T SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known silent c.504 p.A168 0.330 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 83 0 0 85 19 18.2692 LINGO2 0 genome.wustl.edu 37 9 27949433 27949433 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 27949433 27949433 G A SNP LINGO2 ENST00000308675 human ensembl 74_37 -1 known missense c.1237 p.R413C 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO2 HGNC ENSG00000174482 78 0 0 60 15 20 CDK20 0 genome.wustl.edu 37 9 90584120 90584120 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 90584120 90584120 C T SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known missense c.832 p.A278T 0.001 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_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 - no_errors CDK20 HGNC ENSG00000156345 220 0 0 178 41 18.7215 WNK2 0 genome.wustl.edu 37 9 96061535 96061535 + Missense_Mutation SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 96061535 96061535 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.6218 p.R2073H 0.807 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 52 0 0 47 5 9.61538 MAP3K15 0 genome.wustl.edu 37 X 19390935 19390935 + Missense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be X 19390935 19390935 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2944 p.E982K 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 42 0 0 43 15 25.8621 HDAC6 0 genome.wustl.edu 37 X 48666708 48666708 + Nonsense_Mutation SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be X 48666708 48666708 C T SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known nonsense c.823 p.Q275* 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 15 0 0 19 2 9.52381 DIAPH2 0 genome.wustl.edu 37 X 96136668 96136668 + Missense_Mutation SNP C C A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be X 96136668 96136668 C A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.538 p.L180I 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 48 0 0 45 5 10 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 24 0 0 23 5 17.8571 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037883 10037883 + RNA SNP G G A TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be Y 10037883 10037883 G A SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 22 0 0 22 5 18.5185 AGRN 0 genome.wustl.edu 37 1 970694 970711 + Frame_Shift_Del DEL GCCTCCTGATGGTGAGTA GCCTCCTGATGGTGAGTA - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 GCCTCCTGATGGTGAGTA GCCTCCTGATGGTGAGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 1 970694 970711 GCCTCCTGATGGTGAGTA - DEL AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_del c.501_511 p.P168fs 0.001:0.928:0.947:0.936:0.931:0.895:0.885:0.998:0.999:0.998:1.000 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 192 0 0 168 10 5.61798 MYL6 0 genome.wustl.edu 37 12 56554409 56554419 + Frame_Shift_Del DEL GCGTTTGTGAG GCGTTTGTGAG - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 GCGTTTGTGAG GCGTTTGTGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 12 56554409 56554419 GCGTTTGTGAG - DEL MYL6 ENST00000548293 human ensembl 74_37 +1 known frame_shift_del c.429_437 p.F144fs 1.000:1.000:0.847:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL6 HGNC ENSG00000092841 260 0 0 193 14 6.76329 SALL1 0 genome.wustl.edu 37 16 51174686 51174696 + Frame_Shift_Del DEL CGCAGATGTTG CGCAGATGTTG - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 CGCAGATGTTG CGCAGATGTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 16 51174686 51174696 CGCAGATGTTG - DEL SALL1 ENST00000251020 human ensembl 74_37 -1 known frame_shift_del c.1447_1437 p.C479fs 1.000:0.960:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 91 0 0 95 6 5.94059 USP36 0 genome.wustl.edu 37 17 76795809 76795809 + Frame_Shift_Del DEL C C - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 17 76795809 76795809 C - DEL USP36 ENST00000312010 human ensembl 74_37 -1 known frame_shift_del c.3064 p.E1022fs 0.001 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 161 0 0 135 15 10 FAM129C 0 genome.wustl.edu 37 19 17644504 17644517 + Frame_Shift_Del DEL TCCTTGGGTAAGGG TCCTTGGGTAAGGG - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 TCCTTGGGTAAGGG TCCTTGGGTAAGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 19 17644504 17644517 TCCTTGGGTAAGGG - DEL FAM129C ENST00000335393 human ensembl 74_37 +1 known frame_shift_del c.514_520 p.S172fs 0.000:0.023:0.033:0.028:0.054:0.064:0.399 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 47 0 0 54 10 15.625 LOC101928663 0 genome.wustl.edu 37 6 25261542 25261542 + RNA DEL C C - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 6 25261542 25261542 C - DEL LOC101928663 ENST00000413898 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP3-522P13.3 Clone_based_vega_gene ENSG00000235733 48 0 0 14 10 41.6667 ANAPC2 0 genome.wustl.edu 37 9 140069365 140069368 + RNA DEL GGCG GGCG - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 GGCG GGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be 9 140069365 140069368 GGCG - DEL ANAPC2 ENST00000487917 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors ANAPC2 HGNC ENSG00000176248 8 0 0 3 3 50 PIGA 0 genome.wustl.edu 37 X 15342927 15342956 + In_Frame_Del DEL GCTCACATAAAATAATAAGGTTTTCTGGAA GCTCACATAAAATAATAAGGTTTTCTGGAA - TCGA-CD-5804-01A-12D-2053-08 TCGA-CD-5804-10A-01D-2053-08 GCTCACATAAAATAATAAGGTTTTCTGGAA GCTCACATAAAATAATAAGGTTTTCTGGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 36609c37-a039-4fb8-97cc-d492e92f3b05 cd0ff572-f125-478b-b186-f3cb523f39be X 15342927 15342956 GCTCACATAAAATAATAAGGTTTTCTGGAA - DEL PIGA ENST00000333590 human ensembl 74_37 -1 known in_frame_del c.1048_1019 p.LPENLIILCE340in_frame_del 1.000:0.998:1.000:1.000:1.000:1.000:1.000:0.993:1.000:0.993:0.999:1.000:1.000:0.965:1.000:1.000:0.995:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:0.974:1.000:1.000:0.971:0.986 pfam_Glyco_trans_1 pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 23 0 0 15 8 34.7826