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 AHNAK2 0 genome.wustl.edu 37 14 105407443 105407443 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 14 105407443 105407443 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.14345 p.S4782F 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 146 0 0.00 101 6 5.61 ALG10B 0 genome.wustl.edu 37 12 38712112 38712112 + Missense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 38712112 38712112 G T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.221 p.G74V 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 tier1 - - 385 0 0.00 327 23 6.57 AQP5 0 genome.wustl.edu 37 12 50356011 50356011 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 50356011 50356011 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.211 p.A71T 0.993 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 tier1 - - 63 0 0.00 69 7 9.21 ATP1A3 0 genome.wustl.edu 37 19 42485918 42485918 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 42485918 42485918 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.1258 p.R420C 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 tier1 - - 114 0 0.00 73 7 8.75 C12orf42 0 genome.wustl.edu 37 12 103696092 103696092 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 103696092 103696092 G A SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.877 p.R293W 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 tier1 - - 105 0 0.00 80 7 8.05 C21orf2 0 genome.wustl.edu 37 21 45750179 45750181 + In_Frame_Del DEL GCA GCA - TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 21 45750179 45750181 GCA - DEL C21orf2 ENST00000339818 human ensembl 74_37 -1 known in_frame_del c.673_671 p.L224in_frame_del 1.000:1.000:1.000 NULL smart_U2A'_phosphoprotein32A_C - no_errors C21orf2 HGNC ENSG00000160226 tier1 54 0 0.00 30 4 11.76 CDH1 0 genome.wustl.edu 37 16 68846036 68846036 + Splice_Site SNP A A G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 16 68846036 68846036 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known splice_site c.1009-2 e8-2 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 146 0 0.00 88 29 24.79 CDH9 0 genome.wustl.edu 37 5 26902673 26902673 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 26902673 26902673 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1165 p.L389V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 120 0 0.00 111 10 8.26 CECR2 0 genome.wustl.edu 37 22 18022583 18022583 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 22 18022583 18022583 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.2685 p.P895 0.787 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 183 0 0.00 153 15 8.93 CEP170B 0 genome.wustl.edu 37 14 105360623 105360623 + Missense_Mutation SNP A A G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 14 105360623 105360623 A G SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.4381 p.I1461V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 96 0 0.00 74 9 10.84 DIAPH2 0 genome.wustl.edu 37 X 96638969 96638969 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 96638969 96638969 T C SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.3071 p.L1024P 0.997 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 75 0 0.00 60 4 6.25 DLG1 0 genome.wustl.edu 37 3 196842799 196842799 + Nonsense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 196842799 196842799 G T SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known nonsense c.1541 p.S514* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 tier1 - - 107 0 0.00 91 11 10.78 DYNC1LI1 0 genome.wustl.edu 37 3 32571050 32571050 + Frame_Shift_Del DEL T T - TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 32571050 32571050 T - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.1288 p.I430fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 tier1 27 0 0.00 31 3 8.82 ENSG00000212626 0 genome.wustl.edu 37 18 7301081 7301081 + RNA SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 18 7301081 7301081 G A SNP ENSG00000212626 ENST00000391324 human ensembl 74_37 -1 novel rna NULL NULL 0.439 - - - no_errors SNORA48 RFAM ENSG00000212626 tier1 - - 117 0 0.00 85 11 11.46 EVC 0 genome.wustl.edu 37 4 5749976 5749976 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 5749976 5749976 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.1041 p.T347 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 tier1 rs148418233 - 87 0 0.00 66 5 7.04 FRMPD3 0 genome.wustl.edu 37 X 106845698 106845698 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 106845698 106845698 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.4528 p.R1510W 0.995 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 190 0 0.00 131 10 7.09 GABRA4 0 genome.wustl.edu 37 4 46930295 46930295 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 46930295 46930295 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1612 p.W538G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 120 0 0.00 94 8 7.84 GRIK5 0 genome.wustl.edu 37 19 42558560 42558560 + Missense_Mutation SNP C C A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 42558560 42558560 C A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.968 p.R323L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 129 0 0.00 117 8 6.25 GRM6 0 genome.wustl.edu 37 5 178413683 178413683 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 178413683 178413683 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1572 p.P524 0.011 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 - - 95 0 0.00 80 7 8.05 HGFAC 0 genome.wustl.edu 37 4 3443800 3443800 + Silent SNP G G C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 3443800 3443800 G C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.72 p.L24 0.998 pirsf_Coagulation_fac_XIIa/HGFA pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 tier1 - - 78 0 0.00 49 5 9.26 IQSEC1 0 genome.wustl.edu 37 3 12977737 12977737 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 12977737 12977737 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.821 p.A274V 0.001 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 tier1 - - 172 0 0.00 110 13 10.48 IRF2BP2 0 genome.wustl.edu 37 1 234743031 234743031 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 1 234743031 234743031 T C SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.1616 p.K539R 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 - - 218 0 0.00 140 12 7.89 ITIH6 0 genome.wustl.edu 37 X 54777493 54777493 + Frame_Shift_Del DEL G G - TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 54777493 54777493 G - DEL ITIH6 ENST00000218436 human ensembl 74_37 -1 known frame_shift_del c.3673 p.L1225fs 1.000 pfam_ITI_HC_C pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 tier1 33 0 0.00 18 3 14.29 LAMP2 0 genome.wustl.edu 37 X 119573035 119573035 + Missense_Mutation SNP T T G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 119573035 119573035 T G SNP LAMP2 ENST00000371335 human ensembl 74_37 -1 known missense c.1207 p.S403R 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 tier1 - - 171 0 0.00 119 18 13.14 LDHAL6CP 0 genome.wustl.edu 37 12 63398421 63398421 + RNA SNP C C G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 63398421 63398421 C G SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors LDHAL6CP HGNC ENSG00000250517 tier1 - - 148 0 0.00 106 9 7.83 MAATS1 0 genome.wustl.edu 37 3 119462964 119462964 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 119462964 119462964 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.1823 p.R608Q 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 tier1 - - 146 0 0.00 118 7 5.60 MAP2K7 0 genome.wustl.edu 37 19 7976189 7976189 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 7976189 7976189 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1036 p.D346N 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 MAP2K7 HGNC ENSG00000076984 tier1 - - 135 0 0.00 73 8 9.88 MAPT 0 genome.wustl.edu 37 17 44087732 44087732 + Frame_Shift_Del DEL A A - TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 17 44087732 44087732 A - DEL MAPT ENST00000344290 human ensembl 74_37 +1 known frame_shift_del c.1884 p.K629fs 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 tier1 25 0 0.00 7 2 22.22 MARCO 0 genome.wustl.edu 37 2 119750046 119750046 + Nonsense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 2 119750046 119750046 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known nonsense c.1246 p.E416* 0.999 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 74 0 0.00 66 8 10.81 MT-RNR1 0 genome.wustl.edu 37 MT 1289 1289 + RNA SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 MT 1289 1289 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 140 0 0.00 130 65 33.33 MUC2 0 genome.wustl.edu 37 11 1092997 1092997 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 1092997 1092997 A C SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.4816 p.T1606P 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 rs201261285 - 14 0 0.00 7 3 30.00 NARS2 0 genome.wustl.edu 37 11 78277215 78277215 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 78277215 78277215 C T SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known missense c.476 p.R159H 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 tier1 - - 193 0 0.00 177 14 7.33 NDST1 0 genome.wustl.edu 37 5 149907686 149907686 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 149907686 149907686 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.834 p.R278 0.453 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 tier1 - - 112 0 0.00 78 15 16.13 OR51A7 0 genome.wustl.edu 37 11 4929244 4929244 + Missense_Mutation SNP G G C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 4929244 4929244 G C SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.645 p.L215F 0.977 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 tier1 - - 203 0 0.00 157 12 7.10 OR8G5 0 genome.wustl.edu 37 11 124135668 124135668 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 124135668 124135668 G A SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.946 p.V316I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 tier1 - - 118 0 0.00 109 9 7.63 PAPSS2 0 genome.wustl.edu 37 10 89487153 89487153 + Silent SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 10 89487153 89487153 T C SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known silent c.993 p.A331 0.965 pfam_Sulfurylase_cat_dom,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 tier1 - - 112 0 0.00 80 9 10.11 PCDHB13 0 genome.wustl.edu 37 5 140595562 140595562 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 140595562 140595562 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.1867 p.E623K 1.000 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 PCDHB13 HGNC ENSG00000187372 tier1 - - 117 0 0.00 83 10 10.75 PCDHB16 0 genome.wustl.edu 37 5 140563345 140563345 + Missense_Mutation SNP T T A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 140563345 140563345 T A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1211 p.V404E 0.912 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 PCDHB16 HGNC ENSG00000196963 tier1 - - 119 0 0.00 83 6 6.74 RAB8A 0 genome.wustl.edu 37 19 16236288 16236288 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 16236288 16236288 G A SNP RAB8A ENST00000300935 human ensembl 74_37 +1 known missense c.255 p.M85I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 52 0 0.00 38 4 9.52 RAPGEF4 0 genome.wustl.edu 37 2 173891417 173891417 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 2 173891417 173891417 G A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2371 p.V791M 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 144 0 0.00 93 5 5.10 RNASEH2B 0 genome.wustl.edu 37 13 51530586 51530587 + Frame_Shift_Ins INS - - A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 13 51530586 51530587 - A INS RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_ins c.915_916 p.I308fs 0.023:0.153 NULL pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 tier1 39 0 0.00 22 3 12.00 RTN4R 0 genome.wustl.edu 37 22 20230348 20230348 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 22 20230348 20230348 C T SNP RTN4R ENST00000043402 human ensembl 74_37 -1 known missense c.308 p.G103D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4R HGNC ENSG00000040608 89 0 0.00 66 4 5.63 SF3A1 0 genome.wustl.edu 37 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 22 30735202 30735202 G A SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.1414 p.R472W 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 - - 288 0 0.00 230 13 5.35 SLC22A10 0 genome.wustl.edu 37 11 63072236 63072237 + Frame_Shift_Ins INS - - T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 63072236 63072237 0 T INS SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_ins c.1473_1474 p.T493fs 0.000:0.002 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 168 0 0.00 132 13 8.97 SLC35G3 0 genome.wustl.edu 37 17 33521058 33521058 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 17 33521058 33521058 C T SNP SLC35G3 ENST00000297307 human ensembl 74_37 -1 known missense c.269 p.R90H 0.985 pfam_DMT pfam_DMT - no_errors SLC35G3 HGNC ENSG00000164729 tier1 - - 355 0 0.00 344 20 5.49 SLC6A15 0 genome.wustl.edu 37 12 85255784 85255784 + Missense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 85255784 85255784 G T SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1820 p.A607E 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 169 0 0.00 154 11 6.67 TAOK3 0 genome.wustl.edu 37 12 118590080 118590080 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 118590080 118590080 C T SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.2487 p.Q829 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 tier1 - - 126 0 0.00 90 7 7.22 TBC1D9 0 genome.wustl.edu 37 4 141583252 141583252 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 141583252 141583252 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1598 p.N533S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 tier1 - - 268 0 0.00 174 22 11.11 TGFBR1 0 genome.wustl.edu 37 9 101911535 101911535 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 9 101911535 101911535 G A SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.1460 p.R487Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 tier1 rs113605875 - 79 0 0.00 62 7 10.14 TIPIN 0 genome.wustl.edu 37 15 66672145 66672145 + RNA SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 15 66672145 66672145 C T SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 tier1 - - 101 0 0.00 67 7 9.46 TMF1 0 genome.wustl.edu 37 3 69097357 69097357 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 69097357 69097357 C T SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.499 p.G167S 0.006 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 355 0 0.00 270 35 11.48 TSHZ1 0 genome.wustl.edu 37 18 72999597 72999597 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 18 72999597 72999597 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2235 p.P745 0.993 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 72 0 0.00 70 5 6.67 TUBBP5 0 genome.wustl.edu 37 9 141070994 141070994 + RNA SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 9 141070994 141070994 G A SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 - - 90 0 0.00 66 8 10.81 VWA2 0 genome.wustl.edu 37 10 116049196 116049196 + Silent SNP T T G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 10 116049196 116049196 T G SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.2070 p.A690 0.996 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 tier1 - - 139 0 0.00 97 11 10.19 BRINP3 0 genome.wustl.edu 37 1 190195299 190195299 + Missense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 1 190195299 190195299 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.874 p.P292T 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 95 0 0 80 5 5.88235 IRF2BP2 0 genome.wustl.edu 37 1 234743031 234743031 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 1 234743031 234743031 T C SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.1616 p.K539R 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 206 0 0 129 11 7.85714 VWA2 0 genome.wustl.edu 37 10 116049196 116049196 + Silent SNP T T G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 10 116049196 116049196 T G SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.2070 p.A690 0.996 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 125 0 0 83 9 9.78261 PAPSS2 0 genome.wustl.edu 37 10 89487153 89487153 + Silent SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 10 89487153 89487153 T C SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known silent c.993 p.A331 0.965 pfam_Sulfurylase_cat_dom,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 101 0 0 76 9 10.5882 OR51A7 0 genome.wustl.edu 37 11 4929244 4929244 + Missense_Mutation SNP G G C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 4929244 4929244 G C SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.645 p.L215F 0.977 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 181 0 0 140 11 7.28477 NARS2 0 genome.wustl.edu 37 11 78277215 78277215 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 78277215 78277215 C T SNP NARS2 ENST00000281038 human ensembl 74_37 -1 known missense c.476 p.R159H 1.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS2 HGNC ENSG00000137513 169 0 0 154 11 6.66667 C12orf42 0 genome.wustl.edu 37 12 103696092 103696092 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 103696092 103696092 G A SNP C12orf42 ENST00000378113 human ensembl 74_37 -1 known missense c.877 p.R293W 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 104 0 0 75 7 8.53659 TAOK3 0 genome.wustl.edu 37 12 118590080 118590080 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 118590080 118590080 C T SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known silent c.2487 p.Q829 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK3 HGNC ENSG00000135090 115 0 0 78 7 8.23529 ALG10B 0 genome.wustl.edu 37 12 38712112 38712112 + Missense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 38712112 38712112 G T SNP ALG10B ENST00000308742 human ensembl 74_37 +1 known missense c.221 p.G74V 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10B HGNC ENSG00000175548 334 0 0 275 21 7.09459 AQP5 0 genome.wustl.edu 37 12 50356011 50356011 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 50356011 50356011 G A SNP AQP5 ENST00000293599 human ensembl 74_37 +1 known missense c.211 p.A71T 0.993 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_5,tigrfam_MIP - no_errors AQP5 HGNC ENSG00000161798 59 0 0 61 7 10.2941 SLC6A15 0 genome.wustl.edu 37 12 85255784 85255784 + Missense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 12 85255784 85255784 G T SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.1820 p.A607E 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 154 0 0 137 9 6.16438 CEP170B 0 genome.wustl.edu 37 14 105360623 105360623 + Missense_Mutation SNP A A G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 14 105360623 105360623 A G SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.4381 p.I1461V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 88 0 0 65 8 10.9589 AHNAK2 0 genome.wustl.edu 37 14 105407443 105407443 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 14 105407443 105407443 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.14345 p.S4782F 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 127 0 0 80 5 5.88235 CDH1 0 genome.wustl.edu 37 16 68846036 68846036 + Splice_Site SNP A A G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 16 68846036 68846036 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known splice_site c.1009-2 e8-2 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 127 0 0 78 23 22.7723 MED31 0 genome.wustl.edu 37 17 6554834 6554834 + Silent SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 17 6554834 6554834 G T SNP MED31 ENST00000225728 human ensembl 74_37 -1 known silent c.15 p.V5 1.000 NULL pfam_Mediator_Med31 - no_errors MED31 HGNC ENSG00000108590 63 0 0 44 3 6.38298 SENP3 0 genome.wustl.edu 37 17 7468154 7468154 + Nonsense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 17 7468154 7468154 C T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known nonsense c.928 p.R310* 0.992 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 80 0 0 48 4 7.69231 TSHZ1 0 genome.wustl.edu 37 18 72999597 72999597 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 18 72999597 72999597 G A SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.2235 p.P745 0.993 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 64 0 0 63 5 7.35294 RAB8A 0 genome.wustl.edu 37 19 16236288 16236288 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 16236288 16236288 G A SNP RAB8A ENST00000300935 human ensembl 74_37 +1 known missense c.255 p.M85I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB8A HGNC ENSG00000167461 43 0 0 31 4 11.4286 ATP1A3 0 genome.wustl.edu 37 19 42485918 42485918 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 42485918 42485918 G A SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.1258 p.R420C 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 99 0 0 66 6 8.33333 GRIK5 0 genome.wustl.edu 37 19 42558560 42558560 + Missense_Mutation SNP C C A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 42558560 42558560 C A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.968 p.R323L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 116 0 0 105 8 7.07965 MAP2K7 0 genome.wustl.edu 37 19 7976189 7976189 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 19 7976189 7976189 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1036 p.D346N 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 MAP2K7 HGNC ENSG00000076984 114 0 0 66 7 9.58904 MARCO 0 genome.wustl.edu 37 2 119750046 119750046 + Nonsense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 2 119750046 119750046 G T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known nonsense c.1246 p.E416* 0.999 pfam_Collagen pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 69 0 0 57 7 10.9375 RAPGEF4 0 genome.wustl.edu 37 2 173891417 173891417 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 2 173891417 173891417 G A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2371 p.V791M 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 126 0 0 86 5 5.49451 ADCY3 0 genome.wustl.edu 37 2 25141530 25141530 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 2 25141530 25141530 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known silent c.327 p.A109 0.009 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 137 0 0 81 5 5.81395 CECR2 0 genome.wustl.edu 37 22 18022583 18022583 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 22 18022583 18022583 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.2685 p.P895 0.787 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 159 0 0 124 11 8.14815 SF3A1 0 genome.wustl.edu 37 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 22 30735202 30735202 G A SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.1414 p.R472W 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 254 0 0 201 12 5.6338 MAATS1 0 genome.wustl.edu 37 3 119462964 119462964 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 119462964 119462964 G A SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.1823 p.R608Q 1.000 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 129 0 0 103 6 5.50459 IQSEC1 0 genome.wustl.edu 37 3 12977737 12977737 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 12977737 12977737 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.821 p.A274V 0.001 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 152 0 0 101 13 11.4035 DLG1 0 genome.wustl.edu 37 3 196842799 196842799 + Nonsense_Mutation SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 196842799 196842799 G T SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known nonsense c.1541 p.S514* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 93 0 0 79 9 10.2273 NEK10 0 genome.wustl.edu 37 3 27173450 27173450 + Missense_Mutation SNP C C A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 27173450 27173450 C A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known missense c.1079 p.R360I 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 66 0 0 50 4 7.40741 TMF1 0 genome.wustl.edu 37 3 69097357 69097357 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 3 69097357 69097357 C T SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.499 p.G167S 0.006 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 314 0 0 237 28 10.566 TBC1D9 0 genome.wustl.edu 37 4 141583252 141583252 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 141583252 141583252 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1598 p.N533S 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9 HGNC ENSG00000109436 228 0 0 155 19 10.9195 GABRA4 0 genome.wustl.edu 37 4 46930295 46930295 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 46930295 46930295 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1612 p.W538G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 111 0 0 91 7 7.14286 EVC 0 genome.wustl.edu 37 4 5749976 5749976 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 4 5749976 5749976 G A SNP EVC ENST00000264956 human ensembl 74_37 +1 known silent c.1041 p.T347 0.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 78 0 0 56 5 8.19672 PCDHB4 0 genome.wustl.edu 37 5 140502531 140502531 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 140502531 140502531 A C SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.951 p.E317D 0.012 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 328 0 0 226 13 5.43933 PCDHB16 0 genome.wustl.edu 37 5 140563345 140563345 + Missense_Mutation SNP T T A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 140563345 140563345 T A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1211 p.V404E 0.912 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 PCDHB16 HGNC ENSG00000196963 114 0 0 79 6 7.05882 RNF14 0 genome.wustl.edu 37 5 141353170 141353170 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 141353170 141353170 G A SNP RNF14 ENST00000347642 human ensembl 74_37 +1 known missense c.17 p.R6Q 0.998 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 146 0 0 100 6 5.66038 NDST1 0 genome.wustl.edu 37 5 149907686 149907686 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 149907686 149907686 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known silent c.834 p.R278 0.453 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 104 0 0 72 14 16.2791 GRM6 0 genome.wustl.edu 37 5 178413683 178413683 + Silent SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 178413683 178413683 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.1572 p.P524 0.011 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 84 0 0 73 7 8.75 CDH9 0 genome.wustl.edu 37 5 26902673 26902673 + Missense_Mutation SNP A A C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 5 26902673 26902673 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1165 p.L389V 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 109 0 0 101 9 8.18182 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 20 0 0 16 3 15.7895 TGFBR1 0 genome.wustl.edu 37 9 101911535 101911535 + Missense_Mutation SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 9 101911535 101911535 G A SNP TGFBR1 ENST00000374994 human ensembl 74_37 +1 known missense c.1460 p.R487Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TGFBR1 HGNC ENSG00000106799 73 0 0 56 7 11.1111 FRMPD3 0 genome.wustl.edu 37 X 106845698 106845698 + Missense_Mutation SNP C C T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 106845698 106845698 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.4528 p.R1510W 0.995 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 178 0 0 121 9 6.92308 LAMP2 0 genome.wustl.edu 37 X 119573035 119573035 + Missense_Mutation SNP T T G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 119573035 119573035 T G SNP LAMP2 ENST00000371335 human ensembl 74_37 -1 known missense c.1207 p.S403R 1.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 155 0 0 103 17 14.1667 L1CAM 0 genome.wustl.edu 37 X 153136336 153136336 + Silent SNP G G A TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 153136336 153136336 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.609 p.S203 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 181 0 0 138 10 6.75676 SSX5 0 genome.wustl.edu 37 X 48054780 48054780 + Silent SNP A A G TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 48054780 48054780 A G SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known silent c.15 p.D5 0.000 NULL pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 300 1 0.332226 215 25 10.4167 DIAPH2 0 genome.wustl.edu 37 X 96638969 96638969 + Missense_Mutation SNP T T C TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 X 96638969 96638969 T C SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.3071 p.L1024P 0.997 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 66 0 0 51 4 7.27273 SLC22A10 0 genome.wustl.edu 37 11 63072236 63072237 + Frame_Shift_Ins INS - - T TCGA-D7-A748-01A-12D-A32N-08 TCGA-D7-A748-10A-21D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2b9889ab-881d-4a5e-9d54-512baf918ea7 89dc5161-ca99-4535-9aca-a4e2997d7677 11 63072236 63072237 - T INS SLC22A10 ENST00000332793 human ensembl 74_37 +1 known frame_shift_ins c.1473_1474 p.T493fs 0.000:0.002 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 165 0 0 131 14 9.65517