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 AATF 0 genome.wustl.edu 37 17 35346670 35346670 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 35346670 35346670 C A SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.1274 p.P425Q 0.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 tier1 - - 49 0 0.00 32 5 13.51 ABT1 0 genome.wustl.edu 37 6 26598526 26598526 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 26598526 26598526 G T SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known nonsense c.472 p.E158* 1.000 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 49 0 0.00 38 2 5.00 ADAMTS19 0 genome.wustl.edu 37 5 129072844 129072844 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 129072844 129072844 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3557 p.R1186Q 1.000 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 62 0 0.00 49 6 10.91 ADAMTS6 0 genome.wustl.edu 37 5 64468749 64468749 + Missense_Mutation SNP T T A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 64468749 64468749 T A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.2997 p.Q999H 0.056 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 54 0 0.00 40 6 13.04 ADCY7 0 genome.wustl.edu 37 16 50342672 50342672 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 16 50342672 50342672 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2030 p.G677D 0.962 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 tier1 - - 93 0 0.00 85 5 5.56 ADRA1A 0 genome.wustl.edu 37 8 26721788 26721788 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 26721788 26721788 C T SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known silent c.699 p.T233 0.969 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 40 0 0.00 44 4 8.33 ANAPC5 0 genome.wustl.edu 37 12 121783796 121783796 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 121783796 121783796 G T SNP ANAPC5 ENST00000261819 human ensembl 74_37 -1 known missense c.436 p.L146I 1.000 NULL smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 tier1 - - 72 0 0.00 51 4 7.27 ANKRD27 0 genome.wustl.edu 37 19 33130348 33130348 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 33130348 33130348 C A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.1030 p.A344S 0.365 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 51 0 0.00 62 4 6.06 ANKRD50 0 genome.wustl.edu 37 4 125599956 125599956 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 125599956 125599956 G A SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.617 p.T206M 0.142 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 tier1 - - 26 0 0.00 31 4 11.43 ANKRD52 0 genome.wustl.edu 37 12 56649607 56649607 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 56649607 56649607 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known silent c.423 p.R141 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 57 0 0.00 66 5 7.04 ARHGEF7 0 genome.wustl.edu 37 13 111935432 111935432 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 111935432 111935432 G T SNP ARHGEF7 ENST00000491688 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARHGEF7 HGNC ENSG00000102606 tier1 - - 72 0 0.00 43 4 8.51 ARID1A 0 genome.wustl.edu 37 1 27106648 27106648 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 27106648 27106648 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6259 p.G2087R 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 53 0 0.00 26 5 16.13 ARL11 0 genome.wustl.edu 37 13 50204836 50204836 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 50204836 50204836 G A SNP ARL11 ENST00000282026 human ensembl 74_37 +1 known missense c.253 p.V85M 0.247 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ENSG00000152213 37 0 0.00 23 3 11.54 ASCL1 0 genome.wustl.edu 37 12 103352171 103352172 + In_Frame_Ins INS - - GCA TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 103352171 103352172 - GCA INS ASCL1 ENST00000266744 human ensembl 74_37 +1 known in_frame_ins c.149_150 p.54in_frame_insQ 0.997:0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL1 HGNC ENSG00000139352 tier1 17 0 0.00 10 4 28.57 ASTE1 0 genome.wustl.edu 37 3 130733046 130733047 + Frame_Shift_Ins INS - - T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 130733046 130733047 - T INS ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_ins c.1895_1894 p.R632fs 0.003:0.014 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 51 0 0.00 38 4 9.52 ATM 0 genome.wustl.edu 37 11 108155199 108155199 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 108155199 108155199 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.3992 p.Q1331R 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 tier1 - - 43 0 0.00 38 4 9.52 ATP2C1 0 genome.wustl.edu 37 3 130672735 130672735 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 130672735 130672735 C T SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.704 p.P235L 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase 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_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 - - 50 0 0.00 44 4 8.33 BAHCC1 0 genome.wustl.edu 37 17 79428891 79428891 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 79428891 79428891 G T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.7202 p.G2401V 0.007 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 tier1 - - 96 0 0.00 61 5 7.58 BOD1L1 0 genome.wustl.edu 37 4 13615149 13615149 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 13615149 13615149 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.1311 p.E437 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 34 0 0.00 34 2 5.56 BTBD10 0 genome.wustl.edu 37 11 13410443 13410443 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 13410443 13410443 G A SNP BTBD10 ENST00000278174 human ensembl 74_37 -1 known missense c.1363 p.L455F 1.000 NULL superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 45 0 0.00 33 2 5.71 C12orf54 0 genome.wustl.edu 37 12 48882278 48882279 + RNA INS - - AAC TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 48882278 48882279 - AAC INS C12orf54 ENST00000548913 human ensembl 74_37 +1 known rna NULL NULL 0.033:0.007 - - - no_errors C12orf54 HGNC ENSG00000177627 tier1 25 0 0.00 22 3 12.00 C16orf62 0 genome.wustl.edu 37 16 19663298 19663298 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 16 19663298 19663298 G T SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.2374 p.A792S 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 46 0 0.00 49 4 7.55 C1orf147 0 genome.wustl.edu 37 1 206666242 206666242 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 206666242 206666242 G T SNP C1orf147 ENST00000367119 human ensembl 74_37 -1 known missense c.292 p.L98I 0.000 NULL NULL - no_errors C1orf147 HGNC ENSG00000162888 tier1 - - 60 0 0.00 40 4 8.89 C20orf203 0 genome.wustl.edu 37 20 31238642 31238642 + RNA SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 31238642 31238642 G A SNP C20orf203 ENST00000360785 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C20orf203 HGNC ENSG00000198547 tier1 - - 87 0 0.00 93 7 7.00 C9orf41 0 genome.wustl.edu 37 9 77632354 77632354 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 77632354 77632354 G A SNP C9orf41 ENST00000376834 human ensembl 74_37 -1 known missense c.241 p.H81Y 1.000 NULL pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 73 0 0.00 69 4 5.48 C9orf9 0 genome.wustl.edu 37 9 135759394 135759394 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 135759394 135759394 G T SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known missense c.60 p.Q20H 1.000 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 tier1 - - 49 0 0.00 42 4 8.70 CACNA1E 0 genome.wustl.edu 37 1 181684509 181684509 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 181684509 181684509 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known nonsense c.1207 p.G403* 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 42 0 0.00 49 4 7.55 CCDC13 0 genome.wustl.edu 37 3 42771960 42771960 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 42771960 42771960 G A SNP CCDC13 ENST00000310232 human ensembl 74_37 -1 known missense c.1717 p.R573W 1.000 NULL superfamily_Prefoldin - no_errors CCDC13 HGNC ENSG00000244607 tier1 rs200289473 - 65 0 0.00 57 5 8.06 CCDC40 0 genome.wustl.edu 37 17 78055517 78055517 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 78055517 78055517 C A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1735 p.L579M 0.865 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 42 0 0.00 34 2 5.56 CCDC67 0 genome.wustl.edu 37 11 93118682 93118682 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 93118682 93118682 G T SNP CCDC67 ENST00000298050 human ensembl 74_37 +1 known missense c.908 p.C303F 0.447 NULL superfamily_MHC_II-assoc_invariant_trimer - no_errors CCDC67 HGNC ENSG00000165325 tier1 - - 61 0 0.00 54 4 6.90 CCDC77 0 genome.wustl.edu 37 12 527717 527717 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 527717 527717 G T SNP CCDC77 ENST00000239830 human ensembl 74_37 +1 known missense c.328 p.A110S 1.000 NULL NULL - no_errors CCDC77 HGNC ENSG00000120647 tier1 - - 66 0 0.00 59 4 6.15 CCDC88C 0 genome.wustl.edu 37 14 91770137 91770137 + Silent SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 91770137 91770137 T C SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known silent c.3543 p.Q1181 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 42 0 0.00 55 5 8.33 CCER1 0 genome.wustl.edu 37 12 91348412 91348412 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 91348412 91348412 C T SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known silent c.108 p.S36 0.057 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 34 0 0.00 27 4 12.90 CD96 0 genome.wustl.edu 37 3 111319605 111319605 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 111319605 111319605 A G SNP CD96 ENST00000283285 human ensembl 74_37 +1 known missense c.979 p.K327E 0.000 pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 tier1 - - 56 0 0.00 36 4 10.00 CLIP4 0 genome.wustl.edu 37 2 29356672 29356672 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 29356672 29356672 G A SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.519 p.S173 0.216 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 tier1 rs150045383 - 83 0 0.00 75 4 5.06 CNPY4 0 genome.wustl.edu 37 7 99717419 99717419 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 99717419 99717419 G T SNP CNPY4 ENST00000262932 human ensembl 74_37 +1 known nonsense c.52 p.E18* 0.004 NULL pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 70 0 0.00 51 3 5.56 CTTNBP2NL 0 genome.wustl.edu 37 1 112998846 112998846 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 112998846 112998846 C T SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known silent c.732 p.I244 0.310 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 34 0 0.00 38 2 5.00 DAB2IP 0 genome.wustl.edu 37 9 124535012 124535012 + Silent SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 124535012 124535012 T C SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2205 p.P735 0.604 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 66 0 0.00 58 4 6.45 DACH1 0 genome.wustl.edu 37 13 72255964 72255964 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 72255964 72255964 G T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known silent c.933 p.V311 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 - - 72 0 0.00 56 4 6.67 DCC 0 genome.wustl.edu 37 18 51013172 51013172 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 51013172 51013172 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3742 p.V1248M 0.999 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 71 0 0.00 46 3 6.12 DCHS2 0 genome.wustl.edu 37 4 155155708 155155708 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 155155708 155155708 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.8731 p.E2911K 1.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 44 0 0.00 37 4 9.76 DCTN1 0 genome.wustl.edu 37 2 74596337 74596337 + Missense_Mutation SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 74596337 74596337 A T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1589 p.V530E 1.000 pfam_Dynactin,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 75 0 0.00 69 4 5.41 DENND4B 0 genome.wustl.edu 37 1 153914579 153914579 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 153914579 153914579 G T SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.821 p.A274D 0.984 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 tier1 - - 84 0 0.00 69 4 5.48 DIAPH1 0 genome.wustl.edu 37 5 140896575 140896575 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 140896575 140896575 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3665 p.A1222V 0.998 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 27 0 0.00 33 4 10.81 DLX5 0 genome.wustl.edu 37 7 96650277 96650277 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 96650277 96650277 G T SNP DLX5 ENST00000222598 human ensembl 74_37 -1 known missense c.641 p.A214E 1.000 NULL pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 68 0 0.00 56 3 5.08 DNAH17 0 genome.wustl.edu 37 17 76562801 76562801 + Silent SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 76562801 76562801 A G SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.1464 p.R488 0.000 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,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 45 0 0.00 44 4 8.16 DNM1P46 0 genome.wustl.edu 37 15 100340361 100340361 + RNA SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 100340361 100340361 G A SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 47 0 0.00 64 7 9.86 DSCAM 0 genome.wustl.edu 37 21 42080670 42080670 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 21 42080670 42080670 A G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.71 p.L24P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 39 0 0.00 29 4 12.12 EBF4 0 genome.wustl.edu 37 20 2686660 2686660 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 2686660 2686660 G A SNP EBF4 ENST00000380648 human ensembl 74_37 +1 known missense c.323 p.R108H 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF4 HGNC ENSG00000088881 tier1 - - 39 0 0.00 47 9 16.07 EDIL3 0 genome.wustl.edu 37 5 83402504 83402504 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 83402504 83402504 C T SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known nonsense c.614 p.W205* 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 73 0 0.00 76 4 5.00 EFCAB1 0 genome.wustl.edu 37 8 49647703 49647703 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 49647703 49647703 C T SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.8 p.R3H 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 73 0 0.00 56 4 6.67 EIF2A 0 genome.wustl.edu 37 3 150280436 150280436 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 150280436 150280436 A G SNP EIF2A ENST00000460851 human ensembl 74_37 +1 known missense c.281 p.Q94R 1.000 pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 tier1 - - 61 0 0.00 40 4 9.09 ENSG00000226668 0 genome.wustl.edu 37 9 95644924 95644924 + RNA SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 95644924 95644924 A G SNP ENSG00000226668 ENST00000411450 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 tier1 - - 365 0 0.00 410 25 5.75 ENSG00000235704 0 genome.wustl.edu 37 22 20378616 20378628 + RNA DEL GGGATCCGGGGGT GGGATCCGGGGGT - TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 GGGATCCGGGGGT GGGATCCGGGGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 22 20378616 20378628 GGGATCCGGGGGT 0 DEL ENSG00000235704 ENST00000426653 human ensembl 74_37 +1 known rna NULL NULL 0.009:0.014:0.006:0.004:0.011:0.028:0.217:0.219:0.178:0.177:0.193:0.194:0.213 - - - no_errors AC023490.2 Clone_based_vega_gene ENSG00000235704 28 0 0.00 43 8 15.69 ENSG00000253200 0 genome.wustl.edu 37 8 22472281 22472281 + RNA SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 22472281 22472281 A T SNP ENSG00000253200 ENST00000521025 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-582J16.5 Clone_based_vega_gene ENSG00000253200 tier1 rs113423385 - 19 0 0.00 11 5 31.25 ENSG00000260411 0 genome.wustl.edu 37 16 5289918 5289918 + RNA SNP A A C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 16 5289918 5289918 A C SNP ENSG00000260411 ENST00000569895 human ensembl 74_37 +1 known rna NULL NULL 0.819 - - - no_errors RP11-420N3.2 Clone_based_vega_gene ENSG00000260411 58 0 0.00 52 3 5.45 EPHA6 0 genome.wustl.edu 37 3 97185294 97185294 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 97185294 97185294 G T SNP EPHA6 ENST00000502694 human ensembl 74_37 +1 known missense c.38 p.W13L 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 40 0 0.00 31 4 11.43 EPHA7 0 genome.wustl.edu 37 6 94120570 94120570 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 94120570 94120570 C A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.481 p.G161C 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 54 0 0.00 44 4 8.33 ERC1 0 genome.wustl.edu 37 12 1481019 1481019 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 1481019 1481019 C T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.2801 p.A934V 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 tier1 - - 70 0 0.00 60 4 6.25 ERC2 0 genome.wustl.edu 37 3 56207521 56207521 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 56207521 56207521 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1102 p.P368S 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 63 0 0.00 64 5 7.25 ETV4 0 genome.wustl.edu 37 17 41607045 41607045 + Splice_Site SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 41607045 41607045 C T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known splice_site c.956-1 e10-1 1.000 - - - no_errors ETV4 HGNC ENSG00000175832 tier1 - - 54 0 0.00 64 6 8.57 FAM124A 0 genome.wustl.edu 37 13 51854621 51854621 + Silent SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 51854621 51854621 C A SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.978 p.G326 0.001 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 tier1 - - 48 0 0.00 58 4 6.45 FAM13C 0 genome.wustl.edu 37 10 61022288 61022288 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 10 61022288 61022288 G T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1142 p.P381Q 0.999 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 55 0 0.00 55 3 5.00 FAM160B2 0 genome.wustl.edu 37 8 21957265 21957265 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 21957265 21957265 G A SNP FAM160B2 ENST00000289921 human ensembl 74_37 +1 known missense c.1202 p.R401H 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC ENSG00000158863 tier1 - - 48 0 0.00 37 7 15.91 FAM46A 0 genome.wustl.edu 37 6 82459847 82459847 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 82459847 82459847 G T SNP FAM46A ENST00000369754 human ensembl 74_37 -1 known missense c.951 p.N317K 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46A HGNC ENSG00000112773 tier1 - - 59 0 0.00 43 4 8.51 FANCM 0 genome.wustl.edu 37 14 45658089 45658089 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 45658089 45658089 G T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known nonsense c.4864 p.E1622* 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 60 0 0.00 46 3 6.12 FAP 0 genome.wustl.edu 37 2 163083065 163083065 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 163083065 163083065 G T SNP FAP ENST00000188790 human ensembl 74_37 -1 known missense c.158 p.S53Y 0.122 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors FAP HGNC ENSG00000078098 39 0 0.00 38 2 5.00 FCHO1 0 genome.wustl.edu 37 19 17865939 17865939 + RNA SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 17865939 17865939 C T SNP FCHO1 ENST00000599236 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors FCHO1 HGNC ENSG00000130475 tier1 - - 44 0 0.00 48 9 15.79 FCRL3 0 genome.wustl.edu 37 1 157665150 157665150 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 157665150 157665150 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.1398 p.Q466 0.028 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 53 0 0.00 59 4 6.35 FKBP6 0 genome.wustl.edu 37 7 72742619 72742619 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 72742619 72742619 G A SNP FKBP6 ENST00000252037 human ensembl 74_37 +1 known silent c.99 p.S33 0.013 NULL pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP6 HGNC ENSG00000077800 tier1 - - 33 0 0.00 45 7 13.46 FMN2 0 genome.wustl.edu 37 1 240371521 240371521 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 240371521 240371521 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3409 p.G1137R 0.001 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 56 0 0.00 57 4 6.45 FREM3 0 genome.wustl.edu 37 4 144618303 144618303 + Missense_Mutation SNP A A C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 144618303 144618303 A C SNP FREM3 ENST00000329798 human ensembl 74_37 -1 putative missense c.3526 p.F1176V 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 tier1 - - 59 0 0.00 58 6 9.38 FRYL 0 genome.wustl.edu 37 4 48636316 48636316 + Nonsense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 48636316 48636316 C A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known nonsense c.112 p.E38* 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 61 0 0.00 45 4 8.16 FRZB 0 genome.wustl.edu 37 2 183731088 183731088 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 183731088 183731088 C T SNP FRZB ENST00000295113 human ensembl 74_37 -1 known missense c.193 p.A65T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 tier1 - - 61 0 0.00 61 6 8.96 GABRR2 0 genome.wustl.edu 37 6 89977400 89977400 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 89977400 89977400 G T SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.809 p.T270N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 99 0 0.00 65 4 5.80 GALNT12 0 genome.wustl.edu 37 9 101589033 101589033 + Splice_Site SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 101589033 101589033 G T SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known splice_site c.542-1 e3-1 1.000 - - - no_errors GALNT12 HGNC ENSG00000119514 tier1 - - 36 0 0.00 36 4 10.00 GCFC2 0 genome.wustl.edu 37 2 75915055 75915055 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 75915055 75915055 C T SNP GCFC2 ENST00000321027 human ensembl 74_37 -1 known missense c.1588 p.E530K 1.000 pfam_GCFC_dom pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 tier1 - - 83 0 0.00 75 4 5.06 GCK 0 genome.wustl.edu 37 7 44189585 44189585 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 44189585 44189585 C T SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 23 0 0.00 29 4 12.12 GJA5 0 genome.wustl.edu 37 1 147230638 147230638 + Nonsense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 147230638 147230638 G A SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known nonsense c.709 p.R237* 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 30 0 0.00 55 3 5.17 GOSR1 0 genome.wustl.edu 37 17 28837905 28837905 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 28837905 28837905 C T SNP GOSR1 ENST00000225724 human ensembl 74_37 +1 known missense c.523 p.R175C 1.000 NULL NULL - no_errors GOSR1 HGNC ENSG00000108587 tier1 - - 102 0 0.00 76 4 5.00 GPD2 0 genome.wustl.edu 37 2 157436298 157436298 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 157436298 157436298 C T SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known nonsense c.2056 p.Q686* 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 tier1 - - 69 0 0.00 52 4 7.14 GPR116 0 genome.wustl.edu 37 6 46839653 46839653 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 46839653 46839653 G T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known silent c.1338 p.I446 0.079 pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 - - 74 0 0.00 72 4 5.26 GPR20 0 genome.wustl.edu 37 8 142367889 142367889 + Silent SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 142367889 142367889 C A SNP GPR20 ENST00000377741 human ensembl 74_37 -1 known silent c.135 p.L45 0.657 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR20 HGNC ENSG00000204882 tier1 - - 107 0 0.00 104 14 11.76 GPR98 0 genome.wustl.edu 37 5 89938579 89938579 + Missense_Mutation SNP A A C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 89938579 89938579 A C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2367 p.K789N 0.944 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 84 0 0.00 59 6 9.23 GPSM2 0 genome.wustl.edu 37 1 109465107 109465107 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 109465107 109465107 G T SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.1509 p.R503S 1.000 pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 tier1 - - 101 0 0.00 75 4 5.06 GTPBP4 0 genome.wustl.edu 37 10 1052988 1052988 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 10 1052988 1052988 G T SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known nonsense c.1033 p.E345* 1.000 pfam_Fe2_transport_prot_B_N pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 tier1 - - 58 0 0.00 64 4 5.88 HCAR2 0 genome.wustl.edu 37 12 123187714 123187714 + Missense_Mutation SNP G G C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 123187714 123187714 G C SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.117 p.I39M 0.189 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 - - 75 0 0.00 90 6 6.25 HCCS 0 genome.wustl.edu 37 X 11139818 11139818 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef X 11139818 11139818 G A SNP HCCS ENST00000321143 human ensembl 74_37 +1 known missense c.695 p.G232D 0.870 pfam_Cyt_C/C1_haem_lyase pfam_Cyt_C/C1_haem_lyase - no_errors HCCS HGNC ENSG00000004961 tier1 - - 32 0 0.00 18 3 14.29 HLA-DPB2 0 genome.wustl.edu 37 6 33080318 33080318 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 33080318 33080318 G T SNP HLA-DPB2 ENST00000435074 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-DPB2 HGNC ENSG00000224557 tier1 - - 55 0 0.00 62 4 6.06 HMCN1 0 genome.wustl.edu 37 1 185972897 185972897 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 185972897 185972897 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.4396 p.V1466F 0.970 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 71 0 0.00 58 5 7.94 HSPH1 0 genome.wustl.edu 37 13 31713165 31713165 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 31713165 31713165 G T SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known missense c.2066 p.A689E 0.993 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 tier1 - - 78 0 0.00 68 4 5.48 INADL 0 genome.wustl.edu 37 1 62614014 62614014 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 62614014 62614014 G T SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.5330 p.G1777V 0.604 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 57 0 0.00 45 3 6.25 INCENP 0 genome.wustl.edu 37 11 61914190 61914190 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 61914190 61914190 C T SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.2020 p.R674W 1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 82 0 0.00 71 4 5.33 INPP4A 0 genome.wustl.edu 37 2 99154342 99154342 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 99154342 99154342 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known missense c.484 p.R162C 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 53 0 0.00 57 3 5.00 ITGBL1 0 genome.wustl.edu 37 13 102227889 102227889 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 102227889 102227889 T C SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known missense c.578 p.I193T 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 tier1 - - 95 0 0.00 103 7 6.36 KCNQ4 0 genome.wustl.edu 37 1 41284640 41284640 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 41284640 41284640 G T SNP KCNQ4 ENST00000506017 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 23 0 0.00 20 4 16.67 KDR 0 genome.wustl.edu 37 4 55956188 55956188 + Nonsense_Mutation SNP T T A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 55956188 55956188 T A SNP KDR ENST00000263923 human ensembl 74_37 -1 known nonsense c.3127 p.K1043* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 57 0 0.00 39 6 13.33 KHNYN 0 genome.wustl.edu 37 14 24900980 24900980 + Frame_Shift_Del DEL G G - TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 24900980 24900980 G - DEL KHNYN ENST00000251343 human ensembl 74_37 +1 known frame_shift_del c.513 p.D173fs 0.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 30 0 0.00 22 2 8.33 KIAA1324 0 genome.wustl.edu 37 1 109743447 109743447 + Silent SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 109743447 109743447 C A SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known silent c.2898 p.G966 0.986 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 17 0 0.00 17 2 10.53 KIF13A 0 genome.wustl.edu 37 6 17764594 17764594 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 17764594 17764594 G A SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.5165 p.T1722M 0.997 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 149 0 0.00 126 19 13.10 KLHDC7B 0 genome.wustl.edu 37 22 50987858 50987858 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 22 50987858 50987858 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known silent c.1263 p.Y421 0.994 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 50 0 0.00 32 3 8.57 KLHL7 0 genome.wustl.edu 37 7 23164708 23164708 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 23164708 23164708 C T SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.359 p.A120V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 tier1 - - 56 0 0.00 64 4 5.88 KSR2 0 genome.wustl.edu 37 12 117977585 117977585 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 117977585 117977585 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.1626 p.P542 0.980 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 33 0 0.00 32 6 15.79 LAT2 0 genome.wustl.edu 37 7 73638368 73638368 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 73638368 73638368 G A SNP LAT2 ENST00000275635 human ensembl 74_37 +1 known missense c.469 p.G157S 0.004 NULL NULL - no_errors LAT2 HGNC ENSG00000086730 tier1 - - 65 0 0.00 45 5 9.80 LINC00599 0 genome.wustl.edu 37 8 9760811 9760811 + RNA SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 9760811 9760811 G A SNP LINC00599 ENST00000517675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00599 HGNC ENSG00000253230 tier1 - - 44 0 0.00 44 16 26.67 LMLN 0 genome.wustl.edu 37 3 197762815 197762815 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 197762815 197762815 G T SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1768 p.D590Y 0.016 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 85 0 0.00 61 4 6.06 LOC101927516 0 genome.wustl.edu 37 4 141055470 141055470 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 141055470 141055470 G T SNP LOC101927516 ENST00000509184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-392B6.1 Clone_based_vega_gene ENSG00000250698 tier1 - - 44 0 0.00 35 4 10.26 LOC101929655 0 genome.wustl.edu 37 15 81633902 81633902 + Splice_Site SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 81633902 81633902 G T SNP LOC101929655 ENST00000559781 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.010 - - - no_errors RP11-761I4.3 Clone_based_vega_gene ENSG00000259343 tier1 - - 63 0 0.00 49 4 7.55 LOC644669 0 genome.wustl.edu 37 18 15316542 15316542 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 15316542 15316542 G T SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.181 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier1 rs12953331 - 41 0 0.00 42 8 16.00 LOXHD1 0 genome.wustl.edu 37 18 44102122 44102122 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 44102122 44102122 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.5027 p.G1676D 1.000 superfamily_Lipase_LipOase pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 72 0 0.00 54 6 10.00 LPCAT4 0 genome.wustl.edu 37 15 34651938 34651938 + Silent SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 34651938 34651938 A G SNP LPCAT4 ENST00000314891 human ensembl 74_37 -1 known silent c.1251 p.A417 0.887 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC ENSG00000176454 58 0 0.00 68 4 5.56 LPPR2 0 genome.wustl.edu 37 19 11470601 11470601 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 11470601 11470601 C T SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known silent c.285 p.S95 0.998 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 tier1 rs201978882 - 63 0 0.00 63 6 8.70 LY75 0 genome.wustl.edu 37 2 160706507 160706507 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 160706507 160706507 A G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.3134 p.L1045P 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 62 0 0.00 57 4 6.56 MACF1 0 genome.wustl.edu 37 1 39906714 39906714 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 39906714 39906714 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.12310 p.E4104* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 76 0 0.00 61 4 6.15 MAP2 0 genome.wustl.edu 37 2 210557512 210557512 + Silent SNP T T G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 210557512 210557512 T G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.618 p.T206 0.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 58 0 0.00 48 6 11.11 MAP4K4 0 genome.wustl.edu 37 2 102483020 102483020 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 102483020 102483020 G T SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.2335 p.G779W 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 tier1 - - 40 0 0.00 31 4 11.43 MAST2 0 genome.wustl.edu 37 1 46496277 46496277 + Splice_Site SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 46496277 46496277 A G SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known splice_site c.2554-2 e22-2 1.000 - - - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 80 0 0.00 69 4 5.48 MAST2 0 genome.wustl.edu 37 1 46501457 46501457 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 46501457 46501457 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known nonsense c.5116 p.Q1706* 0.107 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 tier1 - - 44 0 0.00 38 4 9.52 MCC 0 genome.wustl.edu 37 5 112379231 112379231 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 112379231 112379231 G A SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.2182 p.R728C 0.996 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 tier1 - - 54 0 0.00 39 4 9.30 MED13L 0 genome.wustl.edu 37 12 116401223 116401223 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 116401223 116401223 C T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.6489 p.S2163 0.962 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 tier1 rs140228421 - 51 0 0.00 42 4 8.70 MEF2C 0 genome.wustl.edu 37 5 88100421 88100421 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 88100421 88100421 G A SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.252 p.I84 0.999 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 63 0 0.00 60 7 10.45 METTL2A 0 genome.wustl.edu 37 17 60518003 60518003 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 60518003 60518003 G A SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known missense c.695 p.R232Q 1.000 pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 tier1 - - 65 0 0.00 70 11 13.58 MEX3A 0 genome.wustl.edu 37 1 156051653 156051653 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 156051653 156051653 C A SNP MEX3A ENST00000532414 human ensembl 74_37 -1 known missense c.137 p.C46F 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3A HGNC ENSG00000254726 43 0 0.00 38 4 9.30 MIR485 0 genome.wustl.edu 37 14 101521775 101521775 + RNA SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 101521775 101521775 G A SNP MIR485 ENST00000385292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR485 HGNC ENSG00000208027 21 0 0.00 40 4 9.09 MKI67 0 genome.wustl.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 10 129913974 129913974 T - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.698 p.N233fs 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 tier1 53 0 0.00 43 5 10.42 MOCS3 0 genome.wustl.edu 37 20 49576475 49576475 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 49576475 49576475 C T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.1096 p.R366C 1.000 pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 36 0 0.00 32 3 8.11 MRPS2 0 genome.wustl.edu 37 9 138392962 138392962 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 138392962 138392962 C T SNP MRPS2 ENST00000241600 human ensembl 74_37 +1 known silent c.162 p.D54 0.000 NULL pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2 - no_errors MRPS2 HGNC ENSG00000122140 tier1 - - 32 0 0.00 36 4 10.00 MTHFSD 0 genome.wustl.edu 37 16 86575392 86575392 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 16 86575392 86575392 C T SNP MTHFSD ENST00000360900 human ensembl 74_37 -1 known missense c.592 p.D198N 1.000 pfam_FTHF_cligase pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MTHFSD HGNC ENSG00000103248 20 0 0.00 22 3 12.00 MUC16 0 genome.wustl.edu 37 19 9057288 9057288 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 9057288 9057288 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30158 p.L10053P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 42 0 0.00 29 5 14.71 MYH7 0 genome.wustl.edu 37 14 23888490 23888490 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 23888490 23888490 G T SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.3868 p.Q1290K 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 58 0 0.00 48 3 5.88 MYO5C 0 genome.wustl.edu 37 15 52545602 52545602 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 52545602 52545602 G T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.1448 p.T483K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 54 0 0.00 42 3 6.52 MYO9B 0 genome.wustl.edu 37 19 17212666 17212666 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 17212666 17212666 G A SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known missense c.139 p.V47I 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 tier1 - - 44 0 0.00 29 10 25.64 NCDN 0 genome.wustl.edu 37 1 36028217 36028217 + Nonsense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 36028217 36028217 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known nonsense c.1368 p.W456* 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 31 0 0.00 29 2 6.45 NEUROD1 0 genome.wustl.edu 37 2 182543465 182543465 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 182543465 182543465 G A SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.123 p.D41 0.996 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 tier1 - - 83 0 0.00 86 5 5.49 NFE2L1 0 genome.wustl.edu 37 17 46136806 46136806 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 46136806 46136806 C T SNP NFE2L1 ENST00000362042 human ensembl 74_37 +1 known nonsense c.2122 p.R708* 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 tier1 - - 37 0 0.00 29 5 14.71 NFX1 0 genome.wustl.edu 37 9 33295406 33295406 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 33295406 33295406 G T SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known missense c.1014 p.K338N 1.000 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 43 0 0.00 33 2 5.71 NIPSNAP3A 0 genome.wustl.edu 37 9 107516796 107516796 + RNA SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 107516796 107516796 A T SNP NIPSNAP3A ENST00000471001 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NIPSNAP3A HGNC ENSG00000136783 tier1 - - 35 0 0.00 51 4 7.27 NOD1 0 genome.wustl.edu 37 7 30492172 30492172 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 30492172 30492172 G A SNP NOD1 ENST00000423334 human ensembl 74_37 -1 known missense c.725 p.T242M 0.982 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 79 0 0.00 63 5 7.35 NOP9 0 genome.wustl.edu 37 14 24770856 24770856 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 24770856 24770856 G T SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known missense c.736 p.D246Y 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 tier1 - - 77 0 0.00 74 4 5.13 NOTCH4 0 genome.wustl.edu 37 6 32188007 32188007 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 32188007 32188007 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.1214 p.A405D 1.000 pirsf_Notch,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 tier1 - - 44 0 0.00 45 5 10.00 NRXN1 0 genome.wustl.edu 37 2 51149818 51149818 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 51149818 51149818 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.798 p.A266 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 42 0 0.00 26 2 7.14 NTRK3 0 genome.wustl.edu 37 15 88472495 88472495 + Missense_Mutation SNP A A C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 88472495 88472495 A C SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.2060 p.V687G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 60 0 0.00 49 4 7.41 NTSR1 0 genome.wustl.edu 37 20 61340826 61340826 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 61340826 61340826 G A SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known silent c.267 p.A89 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 tier1 - - 19 0 0.00 21 6 22.22 NXPH4 0 genome.wustl.edu 37 12 57619118 57619118 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 57619118 57619118 T C SNP NXPH4 ENST00000349394 human ensembl 74_37 +1 known missense c.515 p.V172A 0.113 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH4 HGNC ENSG00000182379 57 0 0.00 52 3 5.45 OAS3 0 genome.wustl.edu 37 12 113379474 113379474 + Missense_Mutation SNP C C G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 113379474 113379474 C G SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.277 p.R93G 0.000 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 tier1 - - 46 0 0.00 43 4 8.51 ODF3L2 0 genome.wustl.edu 37 19 464029 464029 + Frame_Shift_Del DEL G G - TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 464029 464029 G - DEL ODF3L2 ENST00000315489 human ensembl 74_37 -1 known frame_shift_del c.685 p.R229fs 0.010 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 tier1 42 0 0.00 32 3 8.57 OLFM3 0 genome.wustl.edu 37 1 102269856 102269856 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 102269856 102269856 C T SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.1375 p.G459S 1.000 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 57 0 0.00 37 4 9.76 OR5B17 0 genome.wustl.edu 37 11 58126193 58126193 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 58126193 58126193 G T SNP OR5B17 ENST00000357377 human ensembl 74_37 -1 known missense c.350 p.A117D 1.000 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 OR5B17 HGNC ENSG00000197786 74 0 0.00 54 3 5.26 OTOF 0 genome.wustl.edu 37 2 26741909 26741909 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 26741909 26741909 G T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.296 p.T99K 0.998 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 24 0 0.00 28 2 6.67 OXSR1 0 genome.wustl.edu 37 3 38234783 38234783 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 38234783 38234783 G T SNP OXSR1 ENST00000426620 human ensembl 74_37 +1 known missense c.303 p.W101C 1.000 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 tier1 - - 79 0 0.00 60 4 6.25 PAPOLA 0 genome.wustl.edu 37 14 96986549 96986549 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 96986549 96986549 G T SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known nonsense c.166 p.E56* 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 tier1 - - 79 0 0.00 67 4 5.63 PCDHAC2 0 genome.wustl.edu 37 5 140348787 140348787 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 140348787 140348787 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.2436 p.G812 0.996 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 tier1 - - 36 0 0.00 27 6 17.65 PDE4A 0 genome.wustl.edu 37 19 10543166 10543166 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 10543166 10543166 C T SNP PDE4A ENST00000440014 human ensembl 74_37 +1 known missense c.56 p.P19L 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 tier1 - - 30 0 0.00 33 5 12.82 PIP4K2B 0 genome.wustl.edu 37 17 36936743 36936743 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 36936743 36936743 C T SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.469 p.V157M 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 66 0 0.00 53 3 5.36 POTEE 0 genome.wustl.edu 37 2 132010593 132010593 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 132010593 132010593 G T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.1699 p.D567Y 0.008 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 266 0 0.00 281 16 5.39 PPP2R1A 0 genome.wustl.edu 37 19 52723017 52723017 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 52723017 52723017 C T SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1202 p.S401F 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 44 0 0.00 29 4 12.12 PRAM1 0 genome.wustl.edu 37 19 8563310 8563310 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 8563310 8563310 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1382 p.P461L 0.869 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 50 0 0.00 40 9 18.00 PRAMEF11 0 genome.wustl.edu 37 1 12887301 12887301 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 12887301 12887301 G A SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.556 p.P186S 0.002 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 315 0 0.00 279 17 5.74 PRB4 0 genome.wustl.edu 37 12 11461742 11461742 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 11461742 11461742 C T SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.175 p.G59R 0.012 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 134 0 0.00 177 11 5.85 PRDX6 0 genome.wustl.edu 37 1 173450517 173450517 + Nonsense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 173450517 173450517 G T SNP PRDX6 ENST00000340385 human ensembl 74_37 +1 known nonsense c.148 p.E50* 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 66 0 0.00 63 5 7.35 PRSS58 0 genome.wustl.edu 37 7 141952333 141952333 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 141952333 141952333 G T SNP PRSS58 ENST00000547058 human ensembl 74_37 -1 known missense c.535 p.L179M 0.803 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS58 HGNC ENSG00000258223 47 0 0.00 36 2 5.26 PTPRD 0 genome.wustl.edu 37 9 8500858 8500858 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 9 8500858 8500858 T C SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2024 p.E675G 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 tier1 - - 132 0 0.00 105 10 8.70 RAD21L1 0 genome.wustl.edu 37 20 1214736 1214736 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 1214736 1214736 G T SNP RAD21L1 ENST00000409241 human ensembl 74_37 +1 known missense c.376 p.D126Y 1.000 NULL pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors RAD21L1 HGNC ENSG00000244588 tier1 - - 47 0 0.00 54 4 6.90 RD3 0 genome.wustl.edu 37 1 211652558 211652558 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 211652558 211652558 G T SNP RD3 ENST00000367002 human ensembl 74_37 -1 known missense c.408 p.H136Q 0.995 NULL NULL - no_errors RD3 HGNC ENSG00000198570 58 0 0.00 61 4 6.15 RGS7 0 genome.wustl.edu 37 1 240939498 240939498 + Missense_Mutation SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 240939498 240939498 A T SNP RGS7 ENST00000366565 human ensembl 74_37 -1 known missense c.1429 p.S477T 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,prints_RGS_dom,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS7 HGNC ENSG00000182901 tier1 - - 39 0 0.00 36 5 12.20 RGS8 0 genome.wustl.edu 37 1 182636065 182636065 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 182636065 182636065 A G SNP RGS8 ENST00000258302 human ensembl 74_37 -1 known missense c.124 p.S42P 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS8 HGNC ENSG00000135824 tier1 - - 29 0 0.00 26 4 13.33 RNF19B 0 genome.wustl.edu 37 1 33402751 33402751 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 33402751 33402751 C T SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.1855 p.A619T 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 75 0 0.00 71 4 5.33 RNF6 0 genome.wustl.edu 37 13 26788999 26788999 + Silent SNP A A T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 13 26788999 26788999 A T SNP RNF6 ENST00000346166 human ensembl 74_37 -1 known silent c.1020 p.S340 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 tier1 - - 68 0 0.00 68 4 5.56 RNPEPL1 0 genome.wustl.edu 37 2 241513968 241513968 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 241513968 241513968 T C SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.518 p.L173P 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 tier1 - - 60 0 0.00 51 4 7.27 RPAIN 0 genome.wustl.edu 37 17 5329555 5329555 + Splice_Site SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 5329555 5329555 G T SNP RPAIN ENST00000405578 human ensembl 74_37 +1 known splice_site c.426-1 e5-1 1.000 - - - no_errors RPAIN HGNC ENSG00000129197 tier1 - - 98 0 0.00 94 5 5.05 RPTOR 0 genome.wustl.edu 37 17 78797005 78797005 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 78797005 78797005 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.1118 p.T373M 0.996 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 45 0 0.00 42 4 8.70 RRBP1 0 genome.wustl.edu 37 20 17640489 17640489 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 17640489 17640489 C A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.664 p.A222S 0.027 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 125 0 0.00 111 10 8.26 RYR2 0 genome.wustl.edu 37 1 237758827 237758827 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 237758827 237758827 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.4460 p.C1487Y 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 62 0 0.00 55 8 12.70 SALL1 0 genome.wustl.edu 37 16 51173577 51173577 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 16 51173577 51173577 G T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.2556 p.S852 0.121 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 47 0 0.00 48 4 7.69 SAMD9L 0 genome.wustl.edu 37 7 92763145 92763145 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 92763145 92763145 T C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2140 p.S714G 0.001 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 53 0 0.00 39 5 11.36 SCAPER 0 genome.wustl.edu 37 15 76797222 76797222 + Missense_Mutation SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 15 76797222 76797222 T C SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.2932 p.T978A 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 tier1 - - 77 0 0.00 71 4 5.33 SDSL 0 genome.wustl.edu 37 12 113873214 113873214 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 113873214 113873214 G A SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.524 p.G175D 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 tier1 - - 167 0 0.00 121 29 19.21 SEMA5B 0 genome.wustl.edu 37 3 122631065 122631065 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 3 122631065 122631065 G T SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known silent c.3012 p.L1004 0.685 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 42 0 0.00 23 2 8.00 SFT2D2 0 genome.wustl.edu 37 1 168205836 168205836 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 168205836 168205836 G A SNP SFT2D2 ENST00000271375 human ensembl 74_37 +1 known missense c.328 p.A110T 0.005 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors SFT2D2 HGNC ENSG00000213064 75 0 0.00 60 4 6.25 SIPA1L1 0 genome.wustl.edu 37 14 72202017 72202017 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 72202017 72202017 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.5095 p.A1699S 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 74 0 0.00 55 4 6.78 SLC10A6 0 genome.wustl.edu 37 4 87769942 87769943 + Frame_Shift_Ins INS - - C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 87769942 87769943 - C INS SLC10A6 ENST00000273905 human ensembl 74_37 -1 known frame_shift_ins c.327_326 p.T110fs 0.221:1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 tier1 54 0 0.00 29 3 9.38 SLC12A7 0 genome.wustl.edu 37 5 1078124 1078125 + Splice_Site INS - - GCAG TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 1078124 1078125 - GCAG INS SLC12A7 ENST00000264930 human ensembl 74_37 -1 known splice_site_ins c.1455-3_1455-2 e12-2 1.000:0.971 - - - no_errors SLC12A7 HGNC ENSG00000113504 tier1 15 0 0.00 8 5 38.46 SLC26A3 0 genome.wustl.edu 37 7 107408329 107408329 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 107408329 107408329 C T SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.2087 p.R696Q 0.425 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 26 0 0.00 24 2 7.69 SLC4A4 0 genome.wustl.edu 37 4 72338536 72338536 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 4 72338536 72338536 G T SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known silent c.1752 p.T584 0.001 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 tier1 - - 82 0 0.00 66 4 5.71 SLC5A5 0 genome.wustl.edu 37 19 17988836 17988836 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 17988836 17988836 C T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known silent c.903 p.I301 0.295 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 tier1 - - 47 0 0.00 38 8 17.39 SLC9A7P1 0 genome.wustl.edu 37 12 98849257 98849257 + RNA SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 98849257 98849257 C T SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.702 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 64 0 0.00 47 3 6.00 SMIM11 0 genome.wustl.edu 37 21 35757784 35757784 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 21 35757784 35757784 G T SNP SMIM11 ENST00000399292 human ensembl 74_37 +1 known missense c.21 p.E7D 0.037 NULL NULL - no_errors SMIM11 HGNC ENSG00000205670 42 0 0.00 39 4 9.30 SMIM7 0 genome.wustl.edu 37 19 16757446 16757446 + RNA SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 16757446 16757446 C T SNP SMIM7 ENST00000397349 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMIM7 HGNC ENSG00000214046 tier1 - - 25 0 0.00 14 7 33.33 SNTG2 0 genome.wustl.edu 37 2 1079214 1079214 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 1079214 1079214 C A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.83 p.T28N 0.711 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 tier1 - - 76 0 0.00 68 4 5.56 SPEG 0 genome.wustl.edu 37 2 220348119 220348119 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 220348119 220348119 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.5934 p.R1978 0.993 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 48 0 0.00 36 6 14.29 SULF2 0 genome.wustl.edu 37 20 46365616 46365616 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 46365616 46365616 G T SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known missense c.246 p.F82L 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 41 0 0.00 46 3 6.12 SWAP70 0 genome.wustl.edu 37 11 9761755 9761755 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 11 9761755 9761755 G T SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known missense c.1216 p.A406S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 45 0 0.00 49 3 5.77 SYMPK 0 genome.wustl.edu 37 19 46326035 46326035 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 46326035 46326035 G T SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.2770 p.R924S 1.000 pfam_Symplekin_C,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 39 0 0.00 35 2 5.41 SYT6 0 genome.wustl.edu 37 1 114682356 114682356 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 114682356 114682356 G T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known silent c.393 p.A131 0.001 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 43 0 0.00 37 2 5.13 TARBP2 0 genome.wustl.edu 37 12 53898476 53898476 + Silent SNP T T C TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 53898476 53898476 T C SNP TARBP2 ENST00000549572 human ensembl 74_37 +1 known silent c.513 p.L171 0.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 tier1 - - 50 0 0.00 33 4 10.81 TDRD9 0 genome.wustl.edu 37 14 104457534 104457534 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 14 104457534 104457534 C T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known nonsense c.1153 p.R385* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 tier1 - - 130 0 0.00 119 9 7.03 TEKT2 0 genome.wustl.edu 37 1 36551545 36551545 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 36551545 36551545 G T SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known missense c.391 p.D131Y 1.000 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 32 0 0.00 51 3 5.56 TMEM101 0 genome.wustl.edu 37 17 42089360 42089360 + Missense_Mutation SNP A A G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 42089360 42089360 A G SNP TMEM101 ENST00000206380 human ensembl 74_37 -1 known missense c.710 p.M237T 1.000 NULL NULL - no_errors TMEM101 HGNC ENSG00000091947 41 0 0.00 33 3 8.33 TMEM14B 0 genome.wustl.edu 37 6 10751375 10751375 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 10751375 10751375 C T SNP TMEM14B ENST00000379542 human ensembl 74_37 +1 known missense c.110 p.P37L 0.997 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14B HGNC ENSG00000137210 tier1 - - 99 0 0.00 106 12 10.17 TMEM52B 0 genome.wustl.edu 37 12 10342518 10342518 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 12 10342518 10342518 G T SNP TMEM52B ENST00000381923 human ensembl 74_37 +1 known missense c.331 p.A111S 1.000 NULL NULL - no_errors TMEM52B HGNC ENSG00000165685 tier1 - - 39 0 0.00 53 4 7.02 TNFRSF10A 0 genome.wustl.edu 37 8 23049386 23049386 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 23049386 23049386 C T SNP TNFRSF10A ENST00000221132 human ensembl 74_37 -1 known missense c.1228 p.A410T 0.001 pirsf_TNFR_10,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10A HGNC ENSG00000104689 74 0 0.00 66 4 5.71 TNN 0 genome.wustl.edu 37 1 175049324 175049324 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 175049324 175049324 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.810 p.L270 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 tier1 - - 42 0 0.00 22 3 12.00 TP53 0 genome.wustl.edu 37 17 7577498 7577498 + Splice_Site SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 7577498 7577498 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.782+1 e6+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 75 0 0.00 48 6 11.11 TRDN 0 genome.wustl.edu 37 6 123786032 123786033 + Frame_Shift_Ins INS - - A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 123786032 123786033 - A INS TRDN ENST00000546248 human ensembl 74_37 -1 known frame_shift_ins c.890_889 p.S297fs 0.000:0.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 tier1 37 0 0.00 25 6 19.35 TRDN 0 genome.wustl.edu 37 6 123714810 123714810 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 123714810 123714810 G T SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.1064 p.A355D 0.310 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 56 0 0.00 65 4 5.80 TRMT6 0 genome.wustl.edu 37 20 5923415 5923415 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 5923415 5923415 G T SNP TRMT6 ENST00000203001 human ensembl 74_37 -1 known missense c.685 p.Q229K 1.000 pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase - no_errors TRMT6 HGNC ENSG00000089195 37 0 0.00 40 4 9.09 TUBB1 0 genome.wustl.edu 37 20 57599479 57599479 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 20 57599479 57599479 G A SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.997 p.V333M 0.938 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 tier1 - - 76 0 0.00 71 7 8.97 TYMS 0 genome.wustl.edu 37 18 657939 657939 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 657939 657939 G T SNP TYMS ENST00000323274 human ensembl 74_37 +1 known missense c.197 p.S66I 0.999 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 45 0 0.00 30 2 6.25 UGT3A2 0 genome.wustl.edu 37 5 36037942 36037942 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 5 36037942 36037942 C T SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.1252 p.E418K 0.947 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 tier1 - - 78 0 0.00 59 10 14.49 USP9X 0 genome.wustl.edu 37 X 41084051 41084051 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef X 41084051 41084051 C T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.6808 p.P2270S 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 35 0 0.00 46 4 8.00 WASL 0 genome.wustl.edu 37 7 123332839 123332841 + In_Frame_Del DEL AGG AGG - TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 123332839 123332841 AGG - DEL WASL ENST00000223023 human ensembl 74_37 -1 known in_frame_del c.909_907 p.P303in_frame_del 0.996:1.000:1.000 superfamily_WASP_C pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 52 0 0.00 39 5 11.36 WDR27 0 genome.wustl.edu 37 6 170043854 170043854 + Silent SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 170043854 170043854 C T SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known silent c.1686 p.L562 0.867 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 tier1 - - 34 0 0.00 47 4 7.84 WDR65 0 genome.wustl.edu 37 1 43675420 43675420 + Nonsense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 43675420 43675420 C T SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known nonsense c.1762 p.R588* 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 39 0 0.00 32 2 5.88 XIST 0 genome.wustl.edu 37 X 73042914 73042914 + RNA SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef X 73042914 73042914 C A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 83 0 0.00 62 12 16.22 XIST 0 genome.wustl.edu 37 X 73062049 73062049 + RNA SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef X 73062049 73062049 C A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 34 0 0.00 21 6 22.22 YES1 0 genome.wustl.edu 37 18 745953 745953 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 745953 745953 G T SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.569 p.T190N 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 94 0 0.00 79 5 5.95 ZC3H11A 0 genome.wustl.edu 37 1 203799261 203799261 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 1 203799261 203799261 G T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known missense c.630 p.L210F 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 tier1 - - 84 0 0.00 78 6 7.14 ZFP41 0 genome.wustl.edu 37 8 144332324 144332324 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 144332324 144332324 G T SNP ZFP41 ENST00000330701 human ensembl 74_37 +1 known missense c.311 p.R104L 0.023 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP41 HGNC ENSG00000181638 40 0 0.00 42 3 6.67 ZFPM2 0 genome.wustl.edu 37 8 106811081 106811081 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 8 106811081 106811081 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.869 p.S290N 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 63 0 0.00 46 3 6.12 ZMAT5 0 genome.wustl.edu 37 22 30144477 30144477 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 22 30144477 30144477 G T SNP ZMAT5 ENST00000344318 human ensembl 74_37 -1 known missense c.57 p.H19Q 1.000 pfam_Znf_U1-C pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH - no_errors ZMAT5 HGNC ENSG00000100319 tier1 - - 53 0 0.00 54 4 6.90 ZNF192P1 0 genome.wustl.edu 37 6 28134339 28134339 + RNA SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 28134339 28134339 G T SNP ZNF192P1 ENST00000440790 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors ZNF192P1 HGNC ENSG00000226314 tier1 - - 35 0 0.00 32 4 11.11 ZNF287 0 genome.wustl.edu 37 17 16456419 16456419 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 17 16456419 16456419 C T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.1037 p.R346K 0.798 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 tier1 - - 50 0 0.00 43 4 8.51 ZNF397 0 genome.wustl.edu 37 18 32822582 32822582 + Missense_Mutation SNP C C G TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 18 32822582 32822582 C G SNP ZNF397 ENST00000330501 human ensembl 74_37 +1 known missense c.148 p.R50G 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 tier1 - - 61 0 0.00 49 5 9.26 ZNF547 0 genome.wustl.edu 37 19 57888904 57888904 + Missense_Mutation SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 57888904 57888904 G T SNP ZNF547 ENST00000282282 human ensembl 74_37 +1 known missense c.560 p.S187I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF547 HGNC ENSG00000152433 64 0 0.00 47 3 6.00 ZNF736 0 genome.wustl.edu 37 7 63808652 63808652 + Silent SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 63808652 63808652 G A SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known silent c.411 p.L137 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF736 HGNC ENSG00000234444 tier1 - - 69 0 0.00 72 4 5.26 ZNF775 0 genome.wustl.edu 37 7 150093717 150093717 + Missense_Mutation SNP G G A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 7 150093717 150093717 G A SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.148 p.G50S 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 39 0 0.00 54 4 6.90 ZNF804A 0 genome.wustl.edu 37 2 185802855 185802855 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 2 185802855 185802855 C A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2732 p.S911Y 0.001 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 45 0 0.00 46 3 6.12 ZNF829 0 genome.wustl.edu 37 19 37382574 37382574 + Silent SNP G G T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 19 37382574 37382574 G T SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.1362 p.I454 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF829 HGNC ENSG00000185869 tier1 - - 68 0 0.00 76 4 5.00 ZSCAN9 0 genome.wustl.edu 37 6 28200447 28200447 + Missense_Mutation SNP C C A TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e215fdc7-0015-459e-915c-b51c6b2106e4 7efc7e5e-31ae-45cd-a03a-936dd92b52ef 6 28200447 28200447 C A SNP ZSCAN9 ENST00000252207 human ensembl 74_37 +1 known missense c.676 p.Q226K 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN9 HGNC ENSG00000137185 tier1 - - 43 0 0.00 36 4 10.00