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 ACPP 0 genome.wustl.edu 37 3 132071602 132071602 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 132071602 132071602 T A SNP ACPP ENST00000351273 human ensembl 74_37 +1 known missense c.903 p.D301E 0.966 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 tier1 - - 110 0 0.00 40 22 35.48 ACSM2B 0 genome.wustl.edu 37 16 20554273 20554273 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 20554273 20554273 G A SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.1472 p.T491M 0.745 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 tier1 - - 118 0 0.00 35 33 48.53 ACSS3 0 genome.wustl.edu 37 12 81593157 81593157 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 81593157 81593157 G T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1288 p.V430L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 tier1 - - 97 0 0.00 66 4 5.71 ACTB 0 genome.wustl.edu 37 7 5567412 5567412 + Frame_Shift_Del DEL G G - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 5567412 5567412 G - DEL ACTB ENST00000331789 human ensembl 74_37 -1 known frame_shift_del c.1095 p.G366fs 0.255 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 tier1 189 0 0.00 90 75 45.45 ACTN4 0 genome.wustl.edu 37 19 39198794 39198794 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 39198794 39198794 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.610 p.R204W 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 tier1 - - 56 0 0.00 45 13 22.41 ADAMTS16 0 genome.wustl.edu 37 5 5182272 5182272 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 5182272 5182272 A G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.617 p.K206R 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 35 0 0.00 22 8 26.67 ADAMTS16 0 genome.wustl.edu 37 5 5235215 5235215 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 5235215 5235215 T G SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.1939 p.F647V 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 77 0 0.00 52 21 28.77 ADCK5 0 genome.wustl.edu 37 8 145617535 145617549 + Frame_Shift_Del DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 145617535 145617549 GGGGGTGCAAGGTGA 0 DEL ADCK5 ENST00000308860 human ensembl 74_37 +1 known frame_shift_del c.1257_1267 p.G420fs 0.999:0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 9 0 0.00 6 2 25.00 AKAP13 0 genome.wustl.edu 37 15 86077103 86077103 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 86077103 86077103 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.470 p.S157N 0.520 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 33 0 0.00 23 3 11.54 AKAP9 0 genome.wustl.edu 37 7 91630606 91630606 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 91630606 91630606 C G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.1411 p.Q471E 0.985 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 49 0 0.00 30 26 46.43 ANK1 0 genome.wustl.edu 37 8 41573336 41573336 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 41573336 41573336 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.1436 p.R479H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 60 0 0.00 60 4 6.25 ANKRD1 0 genome.wustl.edu 37 10 92675939 92675939 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 92675939 92675939 C T SNP ANKRD1 ENST00000371697 human ensembl 74_37 -1 known missense c.640 p.A214T 0.954 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 ANKRD1 HGNC ENSG00000148677 tier1 - - 112 0 0.00 49 5 9.26 ANKRD20A5P 0 genome.wustl.edu 37 18 14232570 14232570 + RNA SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 18 14232570 14232570 C T SNP ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.929 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 104 0 0.00 54 8 12.90 ANKRD32 0 genome.wustl.edu 37 5 94024337 94024337 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 94024337 94024337 A G SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.2248 p.T750A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 tier1 - - 70 0 0.00 44 23 34.33 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17156473 17156473 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 17156473 17156473 A C SNP ANKRD62P1-PARP4P3 ENST00000338526 human ensembl 74_37 -1 known rna NULL NULL 0.255 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 tier1 - - 87 0 0.00 21 12 36.36 ANO4 0 genome.wustl.edu 37 12 101510523 101510523 + Silent SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 101510523 101510523 T C SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.2517 p.S839 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 tier1 - - 95 0 0.00 47 18 27.69 AP5B1 0 genome.wustl.edu 37 11 65546066 65546066 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 65546066 65546066 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1898 p.P633L 0.998 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 52 0 0.00 33 13 28.26 APOA5 0 genome.wustl.edu 37 11 116661515 116661515 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 116661515 116661515 C T SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.430 p.V144M 0.002 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 tier1 - - 76 0 0.00 34 17 33.33 AR 0 genome.wustl.edu 37 X 66905924 66905924 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 66905924 66905924 C G SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1841 p.S614C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 96 0 0.00 27 39 58.21 ASB14 0 genome.wustl.edu 37 3 57317227 57317227 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 57317227 57317227 C T SNP ASB14 ENST00000389601 human ensembl 74_37 -1 known missense c.713 p.R238Q 0.864 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB14 HGNC ENSG00000239388 tier1 - - 58 0 0.00 56 4 6.67 ATAD3B 0 genome.wustl.edu 37 1 1417530 1417530 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 1417530 1417530 G A SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.527 p.R176Q 0.996 pfam_DUF3523 pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 tier1 - - 95 0 0.00 47 19 28.79 ATF7IP 0 genome.wustl.edu 37 12 14609565 14609565 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 14609565 14609565 A C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.2066 p.Y689S 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 tier1 - - 58 0 0.00 36 19 34.55 ATP2B3 0 genome.wustl.edu 37 X 152845533 152845533 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 152845533 152845533 T G SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3440 p.F1147C 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 tier1 - - 46 0 0.00 7 21 75.00 ATRNL1 0 genome.wustl.edu 37 10 117040912 117040912 + Silent SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 117040912 117040912 T C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.2148 p.C716 1.000 smart_Plexin-like_fold pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 68 0 0.00 38 16 29.63 AWAT1 0 genome.wustl.edu 37 X 69455948 69455948 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 69455948 69455948 T G SNP AWAT1 ENST00000374521 human ensembl 74_37 +1 known missense c.214 p.W72G 1.000 pfam_DAGAT pfam_DAGAT - no_errors AWAT1 HGNC ENSG00000204195 tier1 - - 60 0 0.00 24 40 62.50 BAI1 0 genome.wustl.edu 37 8 143562931 143562931 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 143562931 143562931 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.1989 p.S663 0.035 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 tier1 - - 90 0 0.00 85 29 25.44 BAI2 0 genome.wustl.edu 37 1 32221809 32221809 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 32221809 32221809 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.629 p.R210H 0.978 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 9 0 0.00 6 7 53.85 BBOX1 0 genome.wustl.edu 37 11 27077102 27077102 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 27077102 27077102 A G SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.125 p.D42G 0.000 pfam_DUF971,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 tier1 - - 58 0 0.00 35 10 22.22 BCAT1 0 genome.wustl.edu 37 12 24987645 24987645 + RNA SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 24987645 24987645 A T SNP BCAT1 ENST00000544418 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BCAT1 HGNC ENSG00000060982 tier1 - - 37 0 0.00 16 3 15.79 BICC1 0 genome.wustl.edu 37 10 60560031 60560031 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 60560031 60560031 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.1803 p.P601 0.996 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 109 0 0.00 57 25 30.49 BMX 0 genome.wustl.edu 37 X 15543485 15543485 + Nonsense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 15543485 15543485 C A SNP BMX ENST00000342014 human ensembl 74_37 +1 known nonsense c.827 p.S276* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 tier1 - - 35 0 0.00 20 3 13.04 BNC1 0 genome.wustl.edu 37 15 83933444 83933444 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 83933444 83933444 C G SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.559 p.E187Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 54 0 0.00 35 14 28.57 BNIP3P1 0 genome.wustl.edu 37 14 28734268 28734268 + RNA SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 28734268 28734268 G T SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 86 0 0.00 51 20 28.17 BOD1 0 genome.wustl.edu 37 5 173043312 173043312 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 173043312 173043312 G C SNP BOD1 ENST00000311086 human ensembl 74_37 -1 known missense c.128 p.S43W 1.000 NULL NULL - no_errors BOD1 HGNC ENSG00000145919 tier1 - - 18 0 0.00 13 6 31.58 BORA 0 genome.wustl.edu 37 13 73305435 73305435 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 13 73305435 73305435 G C SNP BORA ENST00000390667 human ensembl 74_37 +1 known missense c.170 p.R57T 1.000 prints_Aurora_borealis_protien prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 tier1 - - 65 0 0.00 38 22 36.67 BRD8 0 genome.wustl.edu 37 5 137476531 137476531 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 137476531 137476531 C G SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.3478 p.G1160R 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 49 0 0.00 28 15 34.88 C11orf35 0 genome.wustl.edu 37 11 558686 558686 + Nonsense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 558686 558686 C T SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known nonsense c.239 p.W80* 0.907 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 tier1 - - 61 0 0.00 28 18 39.13 C12orf66 0 genome.wustl.edu 37 12 64609724 64609724 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 64609724 64609724 G C SNP C12orf66 ENST00000398055 human ensembl 74_37 -1 known missense c.255 p.S85R 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC ENSG00000174206 tier1 - - 55 0 0.00 27 9 25.00 C14orf166 0 genome.wustl.edu 37 14 52465219 52465219 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 52465219 52465219 A T SNP C14orf166 ENST00000261700 human ensembl 74_37 +1 known missense c.294 p.K98N 0.998 pfam_UPF0568 pfam_UPF0568 - no_errors C14orf166 HGNC ENSG00000087302 tier1 - - 53 0 0.00 27 7 20.59 C16orf47 0 genome.wustl.edu 37 16 73177678 73177678 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 73177678 73177678 C T SNP C16orf47 ENST00000358463 human ensembl 74_37 -1 known missense c.3 p.M1I 0.140 NULL NULL - no_errors C16orf47 HGNC ENSG00000197445 tier1 - - 82 0 0.00 29 5 14.71 C1orf86 0 genome.wustl.edu 37 1 2117606 2117606 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 2117606 2117606 G A SNP C1orf86 ENST00000400919 human ensembl 74_37 -1 known silent c.45 p.G15 0.309 NULL NULL - no_errors C1orf86 HGNC ENSG00000162585 tier1 - - 63 0 0.00 50 15 23.08 C5AR2 0 genome.wustl.edu 37 19 47844342 47844342 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 47844342 47844342 C T SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.286 p.R96C 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 tier1 - - 21 0 0.00 8 5 38.46 CACNA1A 0 genome.wustl.edu 37 19 13410024 13410024 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 13410024 13410024 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.2423 p.T808M 0.252 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 115 0 0.00 57 16 21.92 CCDC147 0 genome.wustl.edu 37 10 106125647 106125647 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 106125647 106125647 C A SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.673 p.L225I 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 - - 61 0 0.00 24 7 22.58 CCDC24 0 genome.wustl.edu 37 1 44461126 44461126 + RNA SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 44461126 44461126 G T SNP CCDC24 ENST00000472562 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CCDC24 HGNC ENSG00000159214 tier1 - - 12 0 0.00 11 5 31.25 CCDC54 0 genome.wustl.edu 37 3 107097242 107097242 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 107097242 107097242 G A SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known missense c.808 p.E270K 0.487 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 tier1 - - 81 0 0.00 45 19 29.69 CD1A 0 genome.wustl.edu 37 1 158227471 158227471 + Silent SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 158227471 158227471 T C SNP CD1A ENST00000289429 human ensembl 74_37 +1 known silent c.975 p.C325 0.000 NULL pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 tier1 - - 56 0 0.00 41 10 19.61 CDH18 0 genome.wustl.edu 37 5 19747272 19747272 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 19747272 19747272 A C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.302 p.F101C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 55 0 0.00 23 6 20.69 CEL 0 genome.wustl.edu 37 9 135940527 135940527 + Silent SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 135940527 135940527 C A SNP CEL ENST00000372080 human ensembl 74_37 +1 known silent c.450 p.G150 0.993 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 60 0 0.00 33 2 5.71 CELSR3 0 genome.wustl.edu 37 3 48694699 48694699 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 48694699 48694699 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.3831 p.V1277 1.000 NULL pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 27 0 0.00 16 6 27.27 CEP170 0 genome.wustl.edu 37 1 243349275 243349275 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 243349275 243349275 T G SNP CEP170 ENST00000366542 human ensembl 74_37 -1 known missense c.1372 p.T458P 0.999 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170 HGNC ENSG00000143702 tier1 - - 208 0 0.00 121 26 17.69 CHAMP1 0 genome.wustl.edu 37 13 115091442 115091444 + In_Frame_Del DEL TAT TAT - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 TAT TAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 13 115091442 115091444 TAT - DEL CHAMP1 ENST00000361283 human ensembl 74_37 +1 known in_frame_del c.2125_2127 p.Y710in_frame_del 1.000:1.000:1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 tier1 112 0 0.00 51 19 27.14 CHAT 0 genome.wustl.edu 37 10 50835702 50835702 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 50835702 50835702 G T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known missense c.982 p.D328Y 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 tier1 - - 78 0 0.00 43 17 28.33 CHRNB1 0 genome.wustl.edu 37 17 7360019 7360019 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 7360019 7360019 C A SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known missense c.1483 p.P495T 1.000 superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 tier1 - - 146 0 0.00 73 32 30.48 CNTN5 0 genome.wustl.edu 37 11 99931958 99931958 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 99931958 99931958 T C SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.995 p.I332T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 104 0 0.00 54 27 32.93 COL27A1 0 genome.wustl.edu 37 9 116918267 116918269 + In_Frame_Del DEL GCG GCG - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 116918267 116918269 GCG - DEL COL27A1 ENST00000356083 human ensembl 74_37 +1 known in_frame_del c.37_39 p.A16in_frame_del 1.000:1.000:0.993 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 16 0 0.00 4 2 33.33 COL5A1 0 genome.wustl.edu 37 9 137708901 137708901 + Silent SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 137708901 137708901 T G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.4152 p.G1384 0.096 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 73 0 0.00 44 12 21.43 CORO1B 0 genome.wustl.edu 37 11 67207669 67207669 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 67207669 67207669 C T SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known silent c.927 p.T309 0.001 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 58 0 0.00 34 3 8.11 CPSF3L 0 genome.wustl.edu 37 1 1250292 1250292 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 1250292 1250292 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.632 p.T211M 1.000 smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 tier1 - - 57 0 0.00 31 14 31.11 CRISPLD1 0 genome.wustl.edu 37 8 75926262 75926262 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 75926262 75926262 A C SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.551 p.N184T 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 95 0 0.00 32 25 43.86 CSF3R 0 genome.wustl.edu 37 1 36938264 36938264 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 36938264 36938264 G A SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.697 p.R233W 0.172 superfamily_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 tier1 rs150616658 - 65 0 0.00 43 4 8.51 CTNNB1 0 genome.wustl.edu 37 3 41268766 41268766 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 41268766 41268766 A C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1004 p.K335T 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 - - 130 0 0.00 84 22 20.75 CTSK 0 genome.wustl.edu 37 1 150776494 150776494 + RNA SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 150776494 150776494 C T SNP CTSK ENST00000480670 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors CTSK HGNC ENSG00000143387 tier1 rs74819661 - 65 0 0.00 62 11 15.07 CYLC2 0 genome.wustl.edu 37 9 105767695 105767695 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 105767695 105767695 A G SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.782 p.K261R 0.254 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 56 0 0.00 26 7 21.21 CYP4V2 0 genome.wustl.edu 37 4 187131993 187131994 + RNA INS - - T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 187131993 187131994 - T INS CYP4V2 ENST00000502665 human ensembl 74_37 +1 known rna NULL NULL 0.075:0.089 - - - no_errors CYP4V2 HGNC ENSG00000145476 tier1 12 0 0.00 5 5 50.00 DCHS2 0 genome.wustl.edu 37 4 155243619 155243619 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 155243619 155243619 T G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2675 p.K892T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 - - 86 0 0.00 30 16 34.78 DCHS2 0 genome.wustl.edu 37 4 155254348 155254348 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 155254348 155254348 T G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1515 p.E505D 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 - - 51 0 0.00 49 17 25.76 DCX 0 genome.wustl.edu 37 X 110653400 110653400 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 110653400 110653400 C T SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.470 p.R157H 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 55 0 0.00 17 21 55.26 DDX3Y 0 genome.wustl.edu 37 Y 15026659 15026659 + RNA DEL T T - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e Y 15026659 15026659 T - DEL DDX3Y ENST00000472510 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors DDX3Y HGNC ENSG00000067048 tier1 28 0 0.00 31 7 18.42 DDX6 0 genome.wustl.edu 37 11 118636000 118636000 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 118636000 118636000 C T SNP DDX6 ENST00000264018 human ensembl 74_37 -1 known missense c.563 p.S188N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX6 HGNC ENSG00000110367 tier1 - - 89 0 0.00 66 5 7.04 DENND1B 0 genome.wustl.edu 37 1 197704897 197704897 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 197704897 197704897 G A SNP DENND1B ENST00000477581 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DENND1B HGNC ENSG00000213047 tier1 - - 98 0 0.00 48 25 34.25 DIP2C 0 genome.wustl.edu 37 10 430013 430013 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 430013 430013 G T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.1830 p.N610K 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 tier1 - - 51 0 0.00 31 4 11.43 DKK3 0 genome.wustl.edu 37 11 11989986 11989986 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 11989986 11989986 C A SNP DKK3 ENST00000326932 human ensembl 74_37 -1 known missense c.484 p.A162S 0.923 pfam_Dickkopf_N pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 tier1 - - 74 0 0.00 55 11 16.42 DLG2 0 genome.wustl.edu 37 11 83177803 83177803 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 83177803 83177803 G T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.2677 p.Q893K 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 133 0 0.00 56 4 6.67 DLGAP3 0 genome.wustl.edu 37 1 35391089 35391089 + RNA SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 35391089 35391089 G T SNP DLGAP3 ENST00000495979 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 154 0 0.00 58 34 36.96 DLX4 0 genome.wustl.edu 37 17 48050479 48050479 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 48050479 48050479 G T SNP DLX4 ENST00000240306 human ensembl 74_37 +1 known missense c.326 p.R109L 0.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors DLX4 HGNC ENSG00000108813 90 0 0.00 46 3 6.12 DNAH6 0 genome.wustl.edu 37 2 84931260 84931260 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 84931260 84931260 G C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.8299 p.D2767H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 46 0 0.00 46 3 6.12 DOCK2 0 genome.wustl.edu 37 5 169423170 169423170 + Splice_Site SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 169423170 169423170 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known splice_site c.3072+2 e30+2 1.000 - - - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 74 0 0.00 52 15 22.39 DPF3 0 genome.wustl.edu 37 14 73086616 73086616 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 73086616 73086616 G A SNP DPF3 ENST00000556509 human ensembl 74_37 -1 novel missense c.1061 p.P354L 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 tier1 - - 79 0 0.00 40 13 24.53 DSEL 0 genome.wustl.edu 37 18 65179113 65179113 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 18 65179113 65179113 G C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.2763 p.I921M 0.719 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 68 0 0.00 22 25 53.19 DYNC2H1 0 genome.wustl.edu 37 11 103022954 103022954 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 103022954 103022954 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.3036 p.K1012 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 419 0 0.00 203 75 26.98 ELAVL2 0 genome.wustl.edu 37 9 23704933 23704933 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 23704933 23704933 A C SNP ELAVL2 ENST00000380117 human ensembl 74_37 -1 known missense c.470 p.L157R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ENSG00000107105 tier1 - - 97 0 0.00 26 18 40.91 ELK1 0 genome.wustl.edu 37 X 47498709 47498709 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 47498709 47498709 T C SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.239 p.K80R 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 tier1 - - 25 0 0.00 16 15 48.39 ENPP4 0 genome.wustl.edu 37 6 46107601 46107601 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 46107601 46107601 A G SNP ENPP4 ENST00000321037 human ensembl 74_37 +1 known missense c.281 p.Y94C 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 tier1 - - 38 0 0.00 25 9 26.47 ENSG00000188002 0 genome.wustl.edu 37 5 1633017 1633017 + RNA SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 1633017 1633017 C T SNP ENSG00000188002 ENST00000343123 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188002 52 0 0.00 35 15 30.00 ENSG00000230850 0 genome.wustl.edu 37 1 143233160 143233160 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 143233160 143233160 A C SNP ENSG00000230850 ENST00000438000 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors RP11-782C8.1 Clone_based_vega_gene ENSG00000230850 tier1 - - 174 0 0.00 82 19 18.81 ENSG00000232274 0 genome.wustl.edu 37 1 143196764 143196764 + RNA SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 143196764 143196764 T G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.767 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 300 0 0.00 179 42 19.00 ENSG00000236911 0 genome.wustl.edu 37 1 207726288 207726289 + RNA INS - - T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 207726288 207726289 - T INS ENSG00000236911 ENST00000439443 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-78B10.2 Clone_based_vega_gene ENSG00000236911 tier1 14 0 0.00 10 4 28.57 ENSG00000236915 0 genome.wustl.edu 37 1 87037069 87037069 + RNA SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 87037069 87037069 C T SNP ENSG00000236915 ENST00000456587 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-651E10.4 Clone_based_vega_gene ENSG00000236915 tier1 - - 11 0 0.00 12 6 33.33 ENSG00000237850 0 genome.wustl.edu 37 15 28599818 28599818 + RNA SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 28599818 28599818 G T SNP ENSG00000237850 ENST00000568624 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-483E23.2 Clone_based_vega_gene ENSG00000237850 tier1 - - 141 0 0.00 75 17 18.48 ENSG00000259966 0 genome.wustl.edu 37 16 32616964 32616964 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 32616964 32616964 A C SNP ENSG00000259966 ENST00000562976 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 tier1 - - 213 0 0.00 116 10 7.94 ENSG00000266999 0 genome.wustl.edu 37 17 34237145 34237145 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 34237145 34237145 G A SNP ENSG00000266999 ENST00000587132 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC015849.16 Clone_based_vega_gene ENSG00000266999 tier1 - - 25 0 0.00 8 4 33.33 ENSG00000267427 0 genome.wustl.edu 37 19 6210417 6210418 + RNA INS - - T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 6210417 6210418 - T INS ENSG00000267427 ENST00000586154 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.999 - - - no_errors CTC-503J8.6 Clone_based_vega_gene ENSG00000267427 tier1 59 0 0.00 48 7 12.73 ENSG00000269941 0 genome.wustl.edu 37 X 41093299 41093300 + RNA DEL TT TT - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 41093299 41093300 TT - DEL ENSG00000269941 ENST00000602481 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP5-1172N10.4 Clone_based_vega_gene ENSG00000269941 tier1 18 0 0.00 23 2 8.00 ENSG00000272299 0 genome.wustl.edu 37 13 64411607 64411607 + RNA SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 13 64411607 64411607 G T SNP ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.117 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 tier1 - - 14 0 0.00 6 5 45.45 EPB41L3 0 genome.wustl.edu 37 18 5489096 5489096 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 18 5489096 5489096 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.87 p.A29 0.010 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 20 0 0.00 8 4 33.33 ERVMER61-1 0 genome.wustl.edu 37 1 187610583 187610583 + RNA SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 187610583 187610583 C G SNP ERVMER61-1 ENST00000429725 human ensembl 74_37 +1 known rna NULL NULL 0.059 - - - no_errors ERVMER61-1 HGNC ENSG00000230426 tier1 - - 71 0 0.00 51 17 25.00 EVC2 0 genome.wustl.edu 37 4 5642461 5642461 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 5642461 5642461 C A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1250 p.S417I 0.001 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 31 0 0.00 17 7 29.17 FAM120C 0 genome.wustl.edu 37 X 54161520 54161520 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 54161520 54161520 C T SNP FAM120C ENST00000375180 human ensembl 74_37 -1 known missense c.1360 p.V454M 1.000 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 - - 41 0 0.00 19 17 47.22 FAM13C 0 genome.wustl.edu 37 10 61122452 61122452 + RNA SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 61122452 61122452 G C SNP FAM13C ENST00000470220 human ensembl 74_37 -1 known rna NULL NULL 0.893 - - - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 8 0 0.00 15 4 21.05 FAM196A 0 genome.wustl.edu 37 10 128974405 128974405 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 128974405 128974405 G A SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known silent c.255 p.R85 0.998 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 tier1 - - 73 0 0.00 51 8 13.56 FAM230C 0 genome.wustl.edu 37 22 21663380 21663380 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 21663380 21663380 G A SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.975 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 54 0 0.00 18 9 33.33 FAM26D 0 genome.wustl.edu 37 6 116875029 116875029 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 116875029 116875029 G A SNP FAM26D ENST00000368596 human ensembl 74_37 +1 known missense c.73 p.A25T 0.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 tier1 - - 50 0 0.00 11 19 63.33 FAM50A 0 genome.wustl.edu 37 X 153677073 153677073 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 153677073 153677073 G C SNP FAM50A ENST00000393600 human ensembl 74_37 +1 known missense c.555 p.Q185H 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 tier1 - - 40 0 0.00 12 19 61.29 FAM78A 0 genome.wustl.edu 37 9 134135560 134135560 + RNA SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 134135560 134135560 C T SNP FAM78A ENST00000247295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM78A HGNC ENSG00000126882 tier1 - - 37 0 0.00 15 11 42.31 FASTK 0 genome.wustl.edu 37 7 150776706 150776706 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 150776706 150776706 G A SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.386 p.P129L 0.744 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 tier1 - - 44 0 0.00 14 10 41.67 FAT3 0 genome.wustl.edu 37 11 92613954 92613954 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 92613954 92613954 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12185 p.T4062I 1.000 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 65 0 0.00 37 2 5.13 FBN2 0 genome.wustl.edu 37 5 127647076 127647076 + Nonsense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 127647076 127647076 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known nonsense c.4990 p.G1664* 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 106 0 0.00 45 19 29.69 FBXL12 0 genome.wustl.edu 37 19 9922157 9922157 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 9922157 9922157 G T SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.396 p.H132Q 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 82 0 0.00 52 3 5.45 FBXW7 0 genome.wustl.edu 37 4 153245464 153245464 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 153245464 153245464 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1727 p.T576M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 tier1 rs150160525 - 58 0 0.00 25 6 19.35 FNDC1 0 genome.wustl.edu 37 6 159654479 159654479 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 159654479 159654479 G T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.2935 p.A979S 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 45 0 0.00 34 6 15.00 FOLH1B 0 genome.wustl.edu 37 11 89431638 89431638 + RNA SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 89431638 89431638 T G SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 103 0 0.00 60 16 21.05 GALNT14 0 genome.wustl.edu 37 2 31189139 31189139 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 31189139 31189139 A C SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.329 p.L110R 0.995 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 57 0 0.00 21 25 54.35 GDF1 0 genome.wustl.edu 37 19 18980809 18980809 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 18980809 18980809 C T SNP GDF1 ENST00000247005 human ensembl 74_37 -1 known missense c.308 p.R103H 0.949 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF1 HGNC ENSG00000130283 tier1 - - 23 0 0.00 5 7 58.33 GFRA3 0 genome.wustl.edu 37 5 137593535 137593535 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 137593535 137593535 C T SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.578 p.R193H 0.547 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 tier1 - - 36 0 0.00 20 8 28.57 GGNBP2 0 genome.wustl.edu 37 17 34937781 34937781 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 34937781 34937781 T C SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.1028 p.V343A 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 tier1 - - 86 0 0.00 42 13 23.64 GIT2 0 genome.wustl.edu 37 12 110370786 110370788 + In_Frame_Del DEL GTT GTT - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 110370786 110370788 GTT - DEL GIT2 ENST00000355312 human ensembl 74_37 -1 known in_frame_del c.2277_2275 p.N759in_frame_del 1.000:1.000:1.000 NULL pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 tier1 47 0 0.00 25 9 26.47 GLYATL2 0 genome.wustl.edu 37 11 58604841 58604841 + Silent SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 58604841 58604841 G C SNP GLYATL2 ENST00000287275 human ensembl 74_37 -1 known silent c.216 p.T72 0.982 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL2 HGNC ENSG00000156689 tier1 - - 36 0 0.00 23 20 46.51 GOLGA7 0 genome.wustl.edu 37 8 41355027 41355027 + Splice_Site SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 41355027 41355027 G C SNP GOLGA7 ENST00000520817 human ensembl 74_37 +1 known splice_site c.112-1 e2-1 1.000 - - - no_errors GOLGA7 HGNC ENSG00000147533 tier1 - - 47 0 0.00 8 8 50.00 GON4L 0 genome.wustl.edu 37 1 155784178 155784178 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 155784178 155784178 T G SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.1224 p.R408S 0.996 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 71 0 0.00 28 12 30.00 GP5 0 genome.wustl.edu 37 3 194117361 194117361 + Nonsense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 194117361 194117361 G A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known nonsense c.1651 p.R551* 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 - - 103 0 0.00 47 5 9.62 GPATCH8 0 genome.wustl.edu 37 17 42475361 42475361 + Nonsense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 42475361 42475361 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known nonsense c.4084 p.Q1362* 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 49 0 0.00 35 4 10.26 GPC5 0 genome.wustl.edu 37 13 92346119 92346119 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 13 92346119 92346119 A C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1004 p.Q335P 0.629 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 18 0 0.00 8 6 42.86 GPR141 0 genome.wustl.edu 37 7 37780847 37780847 + Silent SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 37780847 37780847 C A SNP GPR141 ENST00000334425 human ensembl 74_37 +1 known silent c.852 p.V284 0.148 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 tier1 - - 44 0 0.00 47 19 28.79 GPR158 0 genome.wustl.edu 37 10 25883308 25883308 + Silent SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 25883308 25883308 G C SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.1980 p.G660 0.988 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 31 0 0.00 23 5 17.86 GPR22 0 genome.wustl.edu 37 7 107115700 107115700 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 107115700 107115700 G T SNP GPR22 ENST00000304402 human ensembl 74_37 +1 known missense c.1195 p.A399S 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 84 0 0.00 73 4 5.19 GRIK4 0 genome.wustl.edu 37 11 120690507 120690507 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 120690507 120690507 A G SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.389 p.Q130R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 - - 32 0 0.00 33 10 23.26 GRIN2B 0 genome.wustl.edu 37 12 14018892 14018892 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 14018892 14018892 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.251 p.R84H 1.000 superfamily_Peripla_BP_I pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 46 0 0.00 32 2 5.88 GRIN3B 0 genome.wustl.edu 37 19 1004753 1004753 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 1004753 1004753 G A SNP GRIN3B ENST00000234389 human ensembl 74_37 +1 known missense c.1253 p.R418H 0.994 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC ENSG00000116032 tier1 rs201293199 - 26 0 0.00 23 5 17.86 GRM8 0 genome.wustl.edu 37 7 126249516 126249516 + Nonsense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 126249516 126249516 C A SNP GRM8 ENST00000341617 human ensembl 74_37 -1 known nonsense c.1465 p.E489* 1.000 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC ENSG00000179603 73 0 0.00 35 2 5.41 GYG2P1 0 genome.wustl.edu 37 Y 14495029 14495029 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e Y 14495029 14495029 G A SNP GYG2P1 ENST00000493160 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors GYG2P1 HGNC ENSG00000206159 tier1 - - 25 0 0.00 31 7 18.42 HDAC5 0 genome.wustl.edu 37 17 42170115 42170115 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 42170115 42170115 G A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.704 p.T235M 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 24 0 0.00 7 2 22.22 HEATR5B 0 genome.wustl.edu 37 2 37306297 37306297 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 37306297 37306297 T C SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.304 p.K102E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 96 0 0.00 50 20 28.57 HEPH 0 genome.wustl.edu 37 X 65415044 65415044 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 65415044 65415044 G T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.1636 p.D546Y 0.629 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 29 0 0.00 30 3 9.09 HLA-J 0 genome.wustl.edu 37 6 29974679 29974679 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 29974679 29974679 G A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HLA-J HGNC ENSG00000204622 tier1 - - 78 0 0.00 41 13 24.07 HMCN1 0 genome.wustl.edu 37 1 186081978 186081978 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 186081978 186081978 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11024 p.R3675K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 tier1 - - 69 0 0.00 36 15 29.41 HOOK1 0 genome.wustl.edu 37 1 60299159 60299159 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 60299159 60299159 G A SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.356 p.R119K 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 82 0 0.00 33 16 32.65 HOXC9 0 genome.wustl.edu 37 12 54396372 54396372 + Nonsense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 54396372 54396372 G T SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known nonsense c.697 p.E233* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 tier1 - - 113 0 0.00 41 20 32.79 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 67 0 0.00 52 3 5.45 IL2RG 0 genome.wustl.edu 37 X 70330007 70330007 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 70330007 70330007 G T SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.593 p.T198N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 tier1 - - 52 0 0.00 36 4 10.00 INTS2 0 genome.wustl.edu 37 17 59955255 59955255 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 59955255 59955255 G A SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2473 p.P825S 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 tier1 - - 117 0 0.00 72 4 5.26 IQCA1 0 genome.wustl.edu 37 2 237252386 237252386 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 237252386 237252386 T G SNP IQCA1 ENST00000254653 human ensembl 74_37 -1 known missense c.1980 p.E660D 0.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 55 0 0.00 29 18 38.30 IRF2BPL 0 genome.wustl.edu 37 14 77491802 77491802 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 77491802 77491802 G A SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known silent c.2334 p.G778 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 tier1 - - 70 0 0.00 42 16 27.59 IRF4 0 genome.wustl.edu 37 6 401596 401596 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 401596 401596 G C SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.918 p.K306N 0.933 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 tier1 rs1050973 - 51 0 0.00 18 9 33.33 ITGA1 0 genome.wustl.edu 37 5 52233285 52233285 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 52233285 52233285 C A SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.3019 p.P1007T 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 99 0 0.00 67 4 5.63 ITGA1 0 genome.wustl.edu 37 5 52240786 52240786 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 52240786 52240786 G T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.3299 p.S1100I 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 64 0 0.00 30 2 6.25 ITGAL 0 genome.wustl.edu 37 16 30490755 30490755 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 30490755 30490755 G T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.549 p.M183I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 74 0 0.00 37 2 5.13 ITIH5 0 genome.wustl.edu 37 10 7611473 7611473 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 7611473 7611473 A C SNP ITIH5 ENST00000492668 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 23 0 0.00 16 4 20.00 IVL 0 genome.wustl.edu 37 1 152882956 152882956 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 152882956 152882956 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.683 p.Q228R 0.005 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 41 0 0.00 33 9 21.43 KCNA5 0 genome.wustl.edu 37 12 5154628 5154628 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 5154628 5154628 T G SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.1315 p.F439V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 36 0 0.00 21 12 36.36 KCNMA1 0 genome.wustl.edu 37 10 78734121 78734121 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 78734121 78734121 A C SNP KCNMA1 ENST00000475352 human ensembl 74_37 -1 known rna NULL NULL 0.248 - - - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 29 0 0.00 22 13 37.14 KCP 0 genome.wustl.edu 37 7 128531839 128531839 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 128531839 128531839 G A SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 0.079 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 33 0 0.00 8 5 38.46 KHDRBS2 0 genome.wustl.edu 37 6 62995778 62995778 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 62995778 62995778 G A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.76 p.R26C 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 tier1 - - 60 0 0.00 35 11 23.91 KIAA1217 0 genome.wustl.edu 37 10 24762740 24762740 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 24762740 24762740 G C SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.1430 p.R477T 0.999 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 tier1 - - 64 0 0.00 22 13 37.14 KMT2A 0 genome.wustl.edu 37 11 118366503 118366503 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 118366503 118366503 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.5443 p.E1815K 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 74 0 0.00 29 17 36.96 KRT15 0 genome.wustl.edu 37 17 39673193 39673193 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 39673193 39673193 C T SNP KRT15 ENST00000254043 human ensembl 74_37 -1 known missense c.605 p.R202H 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT15 HGNC ENSG00000171346 tier1 rs200854917 - 77 0 0.00 30 10 25.00 KRT18 0 genome.wustl.edu 37 12 53345361 53345361 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 53345361 53345361 A G SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known missense c.754 p.I252V 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 tier1 - - 85 0 0.00 44 23 34.33 KRT24 0 genome.wustl.edu 37 17 38856557 38856557 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 38856557 38856557 T C SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known missense c.934 p.K312E 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 tier1 - - 56 0 0.00 23 12 34.29 LILRA1 0 genome.wustl.edu 37 19 55107841 55107841 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 55107841 55107841 C A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.1146 p.F382L 0.002 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 tier1 - - 175 0 0.00 111 9 7.44 LINC01020 0 genome.wustl.edu 37 5 5034556 5034556 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 5034556 5034556 G A SNP LINC01020 ENST00000508201 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC01020 HGNC ENSG00000215231 68 0 0.00 44 3 6.38 LMNB2 0 genome.wustl.edu 37 19 2434893 2434893 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 2434893 2434893 T G SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.874 p.S292R 0.972 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 13 0 0.00 9 4 30.77 LOC100288897 0 genome.wustl.edu 37 2 131183142 131183142 + RNA DEL A A - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 131183142 131183142 A - DEL LOC100288897 ENST00000438056 human ensembl 74_37 -1 known rna NULL NULL 0.203 - - - no_errors AC140481.1 Clone_based_vega_gene ENSG00000178162 tier1 40 0 0.00 25 8 24.24 LOC101927345 0 genome.wustl.edu 37 1 143380613 143380613 + RNA SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 143380613 143380613 A C SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 40 0 0.00 11 5 31.25 LOC101929232 0 genome.wustl.edu 37 15 29084026 29084026 + RNA SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 29084026 29084026 T G SNP LOC101929232 ENST00000563144 human ensembl 74_37 +1 putative rna NULL NULL 0.133 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 139 0 0.00 41 22 34.92 LOC285556 0 genome.wustl.edu 37 4 100574197 100574197 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 100574197 100574197 G A SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.1609 p.R537C 1.000 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 37 0 0.00 14 13 48.15 LOC400891 0 genome.wustl.edu 37 22 21414754 21414754 + Silent SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 21414754 21414754 G T SNP LOC400891 ENST00000342608 human ensembl 74_37 +1 known silent c.1113 p.V371 0.098 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 tier1 - - 94 0 0.00 16 16 50.00 LOC729121 0 genome.wustl.edu 37 2 108443272 108443272 + RNA SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 108443272 108443272 G C SNP LOC729121 ENST00000457647 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors AC096655.2 Clone_based_vega_gene ENSG00000230651 tier1 - - 30 0 0.00 11 8 42.11 LRP12 0 genome.wustl.edu 37 8 105601095 105601095 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 105601095 105601095 G A SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.31 p.P11S 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 164 0 0.00 122 16 11.59 LRRIQ1 0 genome.wustl.edu 37 12 85446011 85446011 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 85446011 85446011 G C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.735 p.E245D 0.989 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 48 0 0.00 36 6 14.29 LRRIQ1 0 genome.wustl.edu 37 12 85518039 85518039 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 85518039 85518039 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.3749 p.Y1250C 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 52 0 0.00 20 7 25.93 LTBP4 0 genome.wustl.edu 37 19 41105104 41105104 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 41105104 41105104 G A SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.148 p.V50I 0.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 53 0 0.00 34 8 18.60 MADD 0 genome.wustl.edu 37 11 47330888 47330888 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 47330888 47330888 G C SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.3988 p.D1330H 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 tier1 - - 121 0 0.00 54 32 37.21 MAP10 0 genome.wustl.edu 37 1 232942340 232942340 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 232942340 232942340 G T SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.1571 p.C524F 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 48 0 0.00 25 3 10.71 MAP1A 0 genome.wustl.edu 37 15 43815630 43815630 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 43815630 43815630 A G SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.1959 p.I653M 0.802 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 64 0 0.00 37 13 26.00 MAP2K4P1 0 genome.wustl.edu 37 X 72744368 72744368 + RNA SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 72744368 72744368 T A SNP MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 tier1 - - 38 0 0.00 17 14 45.16 MAP3K19 0 genome.wustl.edu 37 2 135743599 135743599 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 135743599 135743599 C T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.2843 p.G948D 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 43 0 0.00 32 3 8.57 MED15 0 genome.wustl.edu 37 22 20937531 20937531 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 20937531 20937531 G A SNP MED15 ENST00000263205 human ensembl 74_37 +1 known missense c.1669 p.E557K 1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 - - 53 0 0.00 14 19 57.58 MFAP3 0 genome.wustl.edu 37 5 153432941 153432943 + In_Frame_Del DEL GAG GAG - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 153432941 153432943 GAG - DEL MFAP3 ENST00000322602 human ensembl 74_37 +1 known in_frame_del c.757_759 p.E254in_frame_del 1.000:1.000:1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3 HGNC ENSG00000037749 tier1 39 0 0.00 31 13 29.55 MGAT5B 0 genome.wustl.edu 37 17 74921094 74921094 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 74921094 74921094 C A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.1105 p.P369T 0.992 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 tier1 - - 56 0 0.00 24 12 33.33 MIR660 0 genome.wustl.edu 37 X 49777894 49777894 + RNA SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 49777894 49777894 C G SNP MIR660 ENST00000385235 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR660 HGNC ENSG00000207970 tier1 - - 23 0 0.00 7 4 36.36 MMD2 0 genome.wustl.edu 37 7 4950836 4950836 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 4950836 4950836 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.407 p.R136H 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 tier1 - - 129 0 0.00 79 60 43.17 MOXD1 0 genome.wustl.edu 37 6 132645151 132645151 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 132645151 132645151 C G SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known missense c.1032 p.W344C 1.000 superfamily_PHM/PNGase_F_dom,prints_Dopamine_b_mOase pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 - - 37 0 0.00 22 8 26.67 MPHOSPH8 0 genome.wustl.edu 37 13 20220923 20220923 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 13 20220923 20220923 A T SNP MPHOSPH8 ENST00000414242 human ensembl 74_37 +1 known missense c.710 p.D237V 1.000 NULL pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC ENSG00000196199 tier1 - - 50 0 0.00 29 18 38.30 MSI1 0 genome.wustl.edu 37 12 120805876 120805876 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 120805876 120805876 A C SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known missense c.202 p.F68V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 tier1 - - 78 0 0.00 53 19 26.03 MST1L 0 genome.wustl.edu 37 1 17083821 17083821 + RNA SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 17083821 17083821 G C SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 105 0 0.00 83 7 7.78 MTA1 0 genome.wustl.edu 37 14 105924626 105924626 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 105924626 105924626 C G SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.570 p.D190E 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 tier1 - - 39 0 0.00 14 9 39.13 MTF1 0 genome.wustl.edu 37 1 38323168 38323168 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 38323168 38323168 G T SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.163 p.P55T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 56 0 0.00 41 3 6.82 MUC16 0 genome.wustl.edu 37 19 9073601 9073601 + Silent SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 9073601 9073601 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.13845 p.T4615 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 69 0 0.00 21 18 46.15 MUC19 0 genome.wustl.edu 37 12 40938804 40938804 + RNA SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 40938804 40938804 T G SNP MUC19 ENST00000492952 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 33 0 0.00 20 10 33.33 MYO1F 0 genome.wustl.edu 37 19 8595219 8595219 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 8595219 8595219 C T SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.2189 p.R730Q 1.000 pfam_Myosin_tail_2,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 tier1 - - 61 0 0.00 35 15 30.00 NAV2 0 genome.wustl.edu 37 11 20083861 20083861 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 20083861 20083861 T A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5008 p.S1670T 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 49 0 0.00 20 10 33.33 NAV2 0 genome.wustl.edu 37 11 20083862 20083862 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 20083862 20083862 C A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.5009 p.S1670Y 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 tier1 - - 49 0 0.00 20 9 31.03 NCALD 0 genome.wustl.edu 37 8 102701306 102701306 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 102701306 102701306 G A SNP NCALD ENST00000522951 human ensembl 74_37 -1 putative missense c.566 p.S189L 0.425 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 tier1 - - 90 0 0.00 117 11 8.59 NEB 0 genome.wustl.edu 37 2 152528931 152528931 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 152528931 152528931 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.4251 p.D1417 0.021 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 64 0 0.00 66 4 5.71 NEGR1 0 genome.wustl.edu 37 1 72076804 72076804 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 72076804 72076804 T G SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.693 p.K231N 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 tier1 - - 51 0 0.00 26 16 38.10 NEK1 0 genome.wustl.edu 37 4 170476957 170476957 + Silent SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 170476957 170476957 T A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known silent c.1476 p.A492 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 tier1 - - 82 0 0.00 57 4 6.56 NGFR 0 genome.wustl.edu 37 17 47590297 47590297 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 47590297 47590297 G T SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.1210 p.A404S 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 77 0 0.00 52 3 5.45 NINL 0 genome.wustl.edu 37 20 25457438 25457438 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 20 25457438 25457438 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.2489 p.P830L 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 21 0 0.00 18 8 30.77 NKAPL 0 genome.wustl.edu 37 6 28227240 28227240 + Nonsense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 28227240 28227240 C T SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known nonsense c.91 p.Q31* 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 88 0 0.00 53 16 23.19 NKD2 0 genome.wustl.edu 37 5 1032294 1032294 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 1032294 1032294 G C SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known missense c.169 p.G57R 0.595 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 104 0 0.00 38 21 35.59 NPR1 0 genome.wustl.edu 37 1 153655852 153655852 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 153655852 153655852 G A SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1264 p.V422I 1.000 superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 - - 55 0 0.00 29 12 29.27 NRAP 0 genome.wustl.edu 37 10 115380372 115380372 + Silent SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 115380372 115380372 G C SNP NRAP ENST00000369358 human ensembl 74_37 -1 known silent c.2889 p.L963 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 tier1 - - 42 0 0.00 29 8 21.62 NXF4 0 genome.wustl.edu 37 X 101818265 101818265 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 101818265 101818265 G A SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 56 0 0.00 14 22 61.11 OCA2 0 genome.wustl.edu 37 15 28200322 28200322 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 28200322 28200322 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.1824 p.I608 1.000 pfam_Cit_transptr-like_dom,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 86 0 0.00 48 9 15.79 OCSTAMP 0 genome.wustl.edu 37 20 45170209 45170209 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 20 45170209 45170209 C T SNP OCSTAMP ENST00000279028 human ensembl 74_37 -1 known missense c.1405 p.V469I 0.000 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ENSG00000149635 tier1 - - 20 0 0.00 10 24 70.59 OR10K1 0 genome.wustl.edu 37 1 158435617 158435617 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 158435617 158435617 A C SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.266 p.K89T 0.737 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 tier1 - - 71 0 0.00 38 8 17.39 OR13C2 0 genome.wustl.edu 37 9 107367311 107367311 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 107367311 107367311 G C SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.598 p.L200V 0.001 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 OR13C2 HGNC ENSG00000257019 tier1 - - 80 0 0.00 39 20 33.90 OR2C3 0 genome.wustl.edu 37 1 247694864 247694864 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 247694864 247694864 A G SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.950 p.L317P 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 tier1 - - 23 0 0.00 21 7 25.00 OR52E6 0 genome.wustl.edu 37 11 5862453 5862453 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 5862453 5862453 A G SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known silent c.687 p.A229 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 tier1 - - 54 0 0.00 27 5 15.62 OR5AS1 0 genome.wustl.edu 37 11 55798108 55798108 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 55798108 55798108 A C SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.214 p.S72R 0.001 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 OR5AS1 HGNC ENSG00000181785 tier1 - - 72 0 0.00 37 16 30.19 OSBPL8 0 genome.wustl.edu 37 12 76786525 76786525 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 76786525 76786525 G A SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known silent c.765 p.C255 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 63 0 0.00 46 4 8.00 OTOP3 0 genome.wustl.edu 37 17 72943297 72943297 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 72943297 72943297 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known silent c.1347 p.L449 0.992 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 48 0 0.00 22 8 26.67 PAAF1 0 genome.wustl.edu 37 11 73602157 73602157 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 73602157 73602157 A G SNP PAAF1 ENST00000310571 human ensembl 74_37 +1 known missense c.193 p.K65E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 tier1 - - 29 0 0.00 26 9 25.71 PANK3 0 genome.wustl.edu 37 5 167990909 167990909 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 167990909 167990909 C A SNP PANK3 ENST00000239231 human ensembl 74_37 -1 known missense c.797 p.W266L 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 64 0 0.00 56 4 6.67 PAX4 0 genome.wustl.edu 37 7 127255505 127255505 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 127255505 127255505 G A SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.70 p.R24W 0.379 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 83 0 0.00 47 3 6.00 PBRM1 0 genome.wustl.edu 37 3 52712580 52712580 + Silent SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 52712580 52712580 G T SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known silent c.172 p.R58 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 55 0 0.00 36 4 9.76 PCDH18 0 genome.wustl.edu 37 4 138451539 138451539 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 138451539 138451539 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.1704 p.D568 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 tier1 - - 22 0 0.00 11 5 31.25 PCDHA7 0 genome.wustl.edu 37 5 140216110 140216110 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 140216110 140216110 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.2142 p.T714 0.015 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 100 0 0.00 42 20 32.26 PCNXL2 0 genome.wustl.edu 37 1 233393833 233393833 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 233393833 233393833 G A SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.1775 p.T592M 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 tier1 rs201633704 - 76 0 0.00 59 4 6.35 PDE10A 0 genome.wustl.edu 37 6 165848801 165848801 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 165848801 165848801 G A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.461 p.P154L 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 tier1 - - 61 0 0.00 16 15 48.39 PDE4DIP 0 genome.wustl.edu 37 1 144911890 144911890 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 144911890 144911890 G A SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.2219 p.S740F 0.386 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 142 0 0.00 77 13 14.44 PDLIM3 0 genome.wustl.edu 37 4 186435954 186435954 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 186435954 186435954 C T SNP PDLIM3 ENST00000284771 human ensembl 74_37 -1 known missense c.421 p.A141T 1.000 smart_ZASP pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 tier1 - - 70 0 0.00 53 4 7.02 PDPN 0 genome.wustl.edu 37 1 13940876 13940876 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 13940876 13940876 T A SNP PDPN ENST00000294489 human ensembl 74_37 +1 known missense c.680 p.V227E 0.002 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 tier1 - - 131 0 0.00 76 25 24.75 PDS5A 0 genome.wustl.edu 37 4 39905727 39905727 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 39905727 39905727 C T SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1318 p.A440T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 - - 57 0 0.00 53 4 7.02 PEG3 0 genome.wustl.edu 37 19 57326073 57326073 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 57326073 57326073 A C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3737 p.L1246R 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 PEG3 HGNC ENSG00000198300 tier1 - - 45 0 0.00 12 11 47.83 PHC1 0 genome.wustl.edu 37 12 9086980 9086980 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 9086980 9086980 G C SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.2159 p.G720A 0.975 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 tier1 - - 77 0 0.00 49 12 19.67 PHKG1 0 genome.wustl.edu 37 7 56149877 56149877 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 56149877 56149877 C T SNP PHKG1 ENST00000452681 human ensembl 74_37 -1 known missense c.713 p.G238D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma - no_errors PHKG1 HGNC ENSG00000164776 tier1 - - 45 0 0.00 68 7 9.33 PLCD3 0 genome.wustl.edu 37 17 43190893 43190893 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 43190893 43190893 C T SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.1906 p.V636I 0.883 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 tier1 - - 51 0 0.00 19 6 24.00 PLCD3 0 genome.wustl.edu 37 17 43192760 43192762 + In_Frame_Del DEL TCC TCC - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 43192760 43192762 TCC - DEL PLCD3 ENST00000322765 human ensembl 74_37 -1 known in_frame_del c.1511_1509 p.E503in_frame_del 0.000:0.003:0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 tier1 54 0 0.00 40 5 11.11 PLCE1 0 genome.wustl.edu 37 10 96058148 96058148 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 96058148 96058148 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.5180 p.G1727D 0.970 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 46 0 0.00 27 3 10.00 PLD5 0 genome.wustl.edu 37 1 242271125 242271125 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 242271125 242271125 A G SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1087 p.L363 0.998 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 89 0 0.00 52 25 32.05 PLEKHH3 0 genome.wustl.edu 37 17 40823101 40823101 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 40823101 40823101 G A SNP PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known silent c.1332 p.N444 0.158 pfam_Ras-assoc,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 tier1 - - 61 0 0.00 23 13 36.11 PLXNA2 0 genome.wustl.edu 37 1 208390427 208390427 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 208390427 208390427 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.841 p.V281M 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 30 0 0.00 20 3 13.04 PLXND1 0 genome.wustl.edu 37 3 129291689 129291689 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 129291689 129291689 T G SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.2933 p.Y978S 0.947 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 81 0 0.00 52 18 25.71 POLR2B 0 genome.wustl.edu 37 4 57889570 57889570 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 57889570 57889570 G A SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.2590 p.D864N 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 tier1 - - 76 0 0.00 46 19 29.23 POTEH-AS1 0 genome.wustl.edu 37 22 16277579 16277579 + RNA SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 16277579 16277579 T G SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 - - 20 0 0.00 6 13 68.42 PPP2R4 0 genome.wustl.edu 37 9 131898874 131898874 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 131898874 131898874 G T SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known missense c.790 p.D264Y 1.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 55 0 0.00 38 2 5.00 PREX2 0 genome.wustl.edu 37 8 69012064 69012064 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 69012064 69012064 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2701 p.S901P 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 28 0 0.00 23 5 17.86 PRLHR 0 genome.wustl.edu 37 10 120354616 120354616 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 10 120354616 120354616 G A SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known silent c.141 p.V47 0.867 prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 tier1 - - 51 0 0.00 36 30 45.45 PRRC2C 0 genome.wustl.edu 37 1 171505351 171505351 + Nonsense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 171505351 171505351 C T SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known nonsense c.2227 p.Q743* 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 69 0 0.00 46 3 6.12 PZP 0 genome.wustl.edu 37 12 9303324 9303324 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 9303324 9303324 T C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4300 p.S1434G 0.019 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 66 0 0.00 28 10 26.32 RANBP1 0 genome.wustl.edu 37 22 20106698 20106698 + RNA SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 22 20106698 20106698 A T SNP RANBP1 ENST00000467920 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors RANBP1 HGNC ENSG00000099901 tier1 - - 56 0 0.00 6 7 53.85 REG3G 0 genome.wustl.edu 37 2 79253844 79253844 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 79253844 79253844 G C SNP REG3G ENST00000272324 human ensembl 74_37 +1 known missense c.82 p.E28Q 0.557 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3G HGNC ENSG00000143954 tier1 - - 70 0 0.00 55 16 22.22 REPIN1 0 genome.wustl.edu 37 7 150069801 150069801 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 150069801 150069801 G T SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known missense c.1642 p.D548Y 0.245 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 tier1 - - 41 0 0.00 13 11 45.83 RGS3 0 genome.wustl.edu 37 9 116267774 116267774 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 116267774 116267774 C T SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.950 p.S317F 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 tier1 - - 90 0 0.00 37 20 35.09 RNF11 0 genome.wustl.edu 37 1 51735793 51735793 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 51735793 51735793 C T SNP RNF11 ENST00000242719 human ensembl 74_37 +1 known missense c.289 p.R97W 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF11 HGNC ENSG00000123091 tier1 rs141444156 - 157 0 0.00 75 36 32.43 RNPC3 0 genome.wustl.edu 37 1 104086028 104086028 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 104086028 104086028 A C SNP RNPC3 ENST00000423855 human ensembl 74_37 +1 known missense c.1004 p.K335T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ENSG00000185946 tier1 - - 43 0 0.00 29 4 12.12 RPS9 0 genome.wustl.edu 37 19 54711426 54711426 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 54711426 54711426 G T SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known missense c.568 p.D190Y 1.000 NULL pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 tier1 - - 38 0 0.00 14 5 26.32 RTP3 0 genome.wustl.edu 37 3 46542088 46542088 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 46542088 46542088 T C SNP RTP3 ENST00000296142 human ensembl 74_37 +1 known missense c.398 p.L133S 0.000 NULL NULL - no_errors RTP3 HGNC ENSG00000163825 tier1 - - 84 0 0.00 56 25 30.86 SCN1A 0 genome.wustl.edu 37 2 166850801 166850801 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 166850801 166850801 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.4707 p.V1569 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 tier1 - - 119 0 0.00 38 17 30.91 SCN3A 0 genome.wustl.edu 37 2 165953850 165953850 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 165953850 165953850 C A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.4151 p.C1384F 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 tier1 - - 80 0 0.00 49 4 7.55 SCN5A 0 genome.wustl.edu 37 3 38647455 38647455 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 38647455 38647455 T A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.1325 p.K442M 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 tier1 - - 59 0 0.00 24 12 33.33 SDK1 0 genome.wustl.edu 37 7 4185504 4185504 + Nonsense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 4185504 4185504 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known nonsense c.4379 p.W1460* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 120 0 0.00 63 11 14.86 SEMA6D 0 genome.wustl.edu 37 15 48063701 48063701 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 48063701 48063701 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2941 p.L981V 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 60 0 0.00 35 13 27.08 SERINC3 0 genome.wustl.edu 37 20 43138568 43138568 + Silent SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 20 43138568 43138568 G T SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known silent c.577 p.R193 0.750 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 tier1 - - 52 0 0.00 44 4 8.33 SF3B1 0 genome.wustl.edu 37 2 198257072 198257072 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 198257072 198257072 A G SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known silent c.3870 p.D1290 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 83 0 0.00 48 23 32.39 SF3B1 0 genome.wustl.edu 37 2 198260982 198260982 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 198260982 198260982 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.3337 p.T1113A 1.000 superfamily_ARM-type_fold pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 tier1 - - 76 0 0.00 33 17 34.00 SH2D3A 0 genome.wustl.edu 37 19 6760892 6760892 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 6760892 6760892 T C SNP SH2D3A ENST00000245908 human ensembl 74_37 -1 known missense c.176 p.H59R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2 - no_errors SH2D3A HGNC ENSG00000125731 tier1 - - 63 0 0.00 35 7 16.67 SH3BP4 0 genome.wustl.edu 37 2 235950358 235950358 + Silent SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 235950358 235950358 G C SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known silent c.945 p.V315 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 tier1 - - 24 0 0.00 21 12 36.36 SLC22A20 0 genome.wustl.edu 37 11 64981654 64981654 + RNA SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 64981654 64981654 C G SNP SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier1 - - 143 0 0.00 90 6 6.25 SLC29A4 0 genome.wustl.edu 37 7 5336571 5336571 + Frame_Shift_Del DEL G G - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 5336571 5336571 G - DEL SLC29A4 ENST00000297195 human ensembl 74_37 +1 known frame_shift_del c.624 p.A209fs 0.160 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 tier1 48 0 0.00 27 5 15.62 SLC35F6 0 genome.wustl.edu 37 2 27001275 27001275 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 27001275 27001275 C T SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known missense c.1012 p.R338C 0.992 pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 27 0 0.00 24 3 11.11 SLC37A3 0 genome.wustl.edu 37 7 140051914 140051914 + Frame_Shift_Del DEL A A - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 140051914 140051914 A - DEL SLC37A3 ENST00000326232 human ensembl 74_37 -1 known frame_shift_del c.651 p.F217fs 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A3 HGNC ENSG00000157800 tier1 61 0 0.00 29 7 19.44 SLC4A3 0 genome.wustl.edu 37 2 220497045 220497045 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 220497045 220497045 C T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1103 p.T368M 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 92 0 0.00 53 4 7.02 SLC6A10P 0 genome.wustl.edu 37 16 32892642 32892642 + RNA SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 32892642 32892642 T C SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 0.077 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 26 0 0.00 5 4 44.44 SLFN12 0 genome.wustl.edu 37 17 33750022 33750022 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 33750022 33750022 G A SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known missense c.26 p.T9M 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 tier1 rs143225670 - 44 0 0.00 22 10 31.25 SNHG14 0 genome.wustl.edu 37 15 25330454 25330454 + RNA SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 25330454 25330454 T C SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 107 0 0.00 54 29 34.94 SNHG14 0 genome.wustl.edu 37 15 25472155 25472155 + RNA SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 15 25472155 25472155 T C SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.095 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 43 0 0.00 19 12 38.71 SNRPD2 0 genome.wustl.edu 37 19 46190958 46190958 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 46190958 46190958 C T SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known silent c.210 p.V70 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 tier1 - - 40 0 0.00 36 15 29.41 SNX29 0 genome.wustl.edu 37 16 12618568 12618568 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 12618568 12618568 T A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.1033 p.F345I 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 tier1 - - 76 0 0.00 22 18 45.00 SOX5 0 genome.wustl.edu 37 12 23908618 23908618 + Silent SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 23908618 23908618 T C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.522 p.K174 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 75 0 0.00 24 14 36.84 SP100 0 genome.wustl.edu 37 2 231406625 231406625 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 231406625 231406625 G T SNP SP100 ENST00000340126 human ensembl 74_37 +1 known missense c.2422 p.G808C 0.000 superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC ENSG00000067066 45 0 0.00 43 4 8.51 SPANXC 0 genome.wustl.edu 37 X 140335763 140335763 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 140335763 140335763 T C SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known missense c.181 p.R61G 0.014 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 174 0 0.00 46 80 63.49 SPEG 0 genome.wustl.edu 37 2 220330747 220330747 + RNA SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 220330747 220330747 G A SNP SPEG ENST00000462545 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPEG HGNC ENSG00000072195 tier1 - - 89 0 0.00 44 19 30.16 STAT5B 0 genome.wustl.edu 37 17 40370850 40370850 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 40370850 40370850 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.880 p.R294C 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 rs199982340 - 35 0 0.00 27 8 22.86 STX19 0 genome.wustl.edu 37 3 93733819 93733819 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 93733819 93733819 T G SNP STX19 ENST00000315099 human ensembl 74_37 -1 known missense c.295 p.K99Q 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 tier1 - - 42 0 0.00 15 9 37.50 SVEP1 0 genome.wustl.edu 37 9 113173558 113173558 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 113173558 113173558 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.6433 p.R2145W 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 rs201043549 - 41 0 0.00 24 6 20.00 SYNJ2 0 genome.wustl.edu 37 6 158483096 158483096 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 158483096 158483096 G T SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.1027 p.G343C 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 64 0 0.00 52 4 7.14 SYT1 0 genome.wustl.edu 37 12 79679573 79679573 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 79679573 79679573 C T SNP SYT1 ENST00000261205 human ensembl 74_37 +1 known missense c.173 p.P58L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 tier1 - - 53 0 0.00 43 15 25.86 SYTL2 0 genome.wustl.edu 37 11 85445679 85445679 + Silent SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 85445679 85445679 G A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known silent c.693 p.I231 0.074 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 73 0 0.00 26 17 39.53 TBC1D1 0 genome.wustl.edu 37 4 38126581 38126581 + Splice_Site SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 38126581 38126581 A T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known splice_site c.2963-2 e17-2 1.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 87 0 0.00 49 31 38.75 TBC1D26 0 genome.wustl.edu 37 17 15640806 15640806 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 15640806 15640806 A C SNP TBC1D26 ENST00000437605 human ensembl 74_37 +1 known missense c.167 p.E56A 0.285 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D26 HGNC ENSG00000214946 tier1 rs200208182 - 55 0 0.00 17 5 22.73 TCEB3 0 genome.wustl.edu 37 1 24077814 24077814 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 24077814 24077814 G T SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known missense c.797 p.S266I 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 tier1 - - 58 0 0.00 45 4 8.16 TENM2 0 genome.wustl.edu 37 5 167489111 167489111 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 5 167489111 167489111 A C SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1356 p.E452D 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 70 0 0.00 23 28 54.90 TENM3 0 genome.wustl.edu 37 4 183713770 183713770 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 183713770 183713770 T C SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5945 p.L1982P 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 tier1 - - 91 0 0.00 48 9 15.79 TESK2 0 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 74_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC ENSG00000070759 tier1 69 0 0.00 38 7 15.56 TESPA1 0 genome.wustl.edu 37 12 55356627 55356627 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 55356627 55356627 T G SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.1055 p.K352T 0.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 tier1 - - 31 0 0.00 13 6 31.58 TEX14 0 genome.wustl.edu 37 17 56693620 56693620 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 56693620 56693620 G A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.701 p.P234L 0.929 pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 tier1 - - 44 0 0.00 28 17 37.78 TMED1 0 genome.wustl.edu 37 19 10945648 10945648 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 10945648 10945648 G A SNP TMED1 ENST00000214869 human ensembl 74_37 -1 known missense c.427 p.P143S 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 tier1 - - 40 0 0.00 27 10 26.32 TMPRSS15 0 genome.wustl.edu 37 21 19737458 19737458 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 21 19737458 19737458 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.772 p.R258C 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 66 0 0.00 48 3 5.88 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs11540652 - 53 0 0.00 18 24 57.14 TPSAB1 0 genome.wustl.edu 37 16 1291569 1291569 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 1291569 1291569 C G SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.368 p.A123G 0.964 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 66 0 0.00 20 4 16.67 TRIM61 0 genome.wustl.edu 37 4 165891052 165891052 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 4 165891052 165891052 A C SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known missense c.103 p.F35V 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 tier1 - - 231 0 0.00 123 11 8.21 TSEN2 0 genome.wustl.edu 37 3 12546688 12546688 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 12546688 12546688 T A SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known missense c.867 p.N289K 0.996 pfam_tRNA_intron_Endonuc_N,pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 tier1 - - 35 0 0.00 27 13 32.50 TTC6 0 genome.wustl.edu 37 14 38208098 38208098 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 38208098 38208098 C T SNP TTC6 ENST00000553443 human ensembl 74_37 +1 novel missense c.2101 p.R701C 0.262 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 tier1 - - 72 0 0.00 52 9 14.52 TTN 0 genome.wustl.edu 37 2 179419249 179419249 + Nonsense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179419249 179419249 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.81121 p.R27041* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 41 0 0.00 18 6 25.00 TTN 0 genome.wustl.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179472135 179472135 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.45576 p.E15192D 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 39 0 0.00 23 10 30.30 TTN 0 genome.wustl.edu 37 2 179476272 179476272 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179476272 179476272 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.42980 p.G14327D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 19 0 0.00 23 6 20.69 TTN 0 genome.wustl.edu 37 2 179604931 179604931 + Silent SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179604931 179604931 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.12516 p.E4172 1.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 38 0 0.00 17 8 32.00 TTN 0 genome.wustl.edu 37 2 179621097 179621097 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179621097 179621097 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.10593 p.E3531D 0.950 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 52 0 0.00 26 22 45.83 TTN 0 genome.wustl.edu 37 2 179631332 179631332 + Missense_Mutation SNP T T C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179631332 179631332 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.9479 p.E3160G 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 tier1 - - 27 0 0.00 6 10 62.50 TTN 0 genome.wustl.edu 37 2 179480173 179480173 + Nonsense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 2 179480173 179480173 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.40795 p.R13599* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 TTN HGNC ENSG00000155657 76 0 0.00 36 2 5.26 UBQLN3 0 genome.wustl.edu 37 11 5529456 5529456 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 11 5529456 5529456 C G SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.1333 p.V445L 0.999 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 113 0 0.00 63 34 35.05 UBR4 0 genome.wustl.edu 37 1 19501494 19501494 + Missense_Mutation SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 19501494 19501494 A G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.2807 p.L936P 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 71 0 0.00 56 4 6.67 UNC45B 0 genome.wustl.edu 37 17 33504597 33504597 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 17 33504597 33504597 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known silent c.2229 p.L743 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 tier1 - - 65 0 0.00 44 13 22.81 URGCP 0 genome.wustl.edu 37 7 43916873 43916873 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 43916873 43916873 A C SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.2189 p.M730R 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 22 0 0.00 39 3 7.14 USP24 0 genome.wustl.edu 37 1 55622627 55622627 + Missense_Mutation SNP C C G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 55622627 55622627 C G SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.1104 p.K368N 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 122 0 0.00 68 15 18.07 UTP20 0 genome.wustl.edu 37 12 101777388 101777388 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 12 101777388 101777388 A T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7997 p.Y2666F 0.987 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 77 0 0.00 56 4 6.67 UTY 0 genome.wustl.edu 37 Y 15448174 15448174 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e Y 15448174 15448174 A C SNP UTY ENST00000382896 human ensembl 74_37 -1 known missense c.1947 p.N649K 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 tier1 - - 65 0 0.00 39 18 31.58 VANGL1 0 genome.wustl.edu 37 1 116206711 116206711 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 116206711 116206711 C T SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known missense c.634 p.R212W 0.731 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 tier1 - - 89 0 0.00 72 15 17.24 VEPH1 0 genome.wustl.edu 37 3 156983327 156983327 + Missense_Mutation SNP T T A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 156983327 156983327 T A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2253 p.Q751H 0.590 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 - - 112 0 0.00 68 4 5.56 VPS13D 0 genome.wustl.edu 37 1 12409301 12409301 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 1 12409301 12409301 C T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.9301 p.R3101W 0.990 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 49 0 0.00 27 3 10.00 VPS37D 0 genome.wustl.edu 37 7 73085444 73085444 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 73085444 73085444 C T SNP VPS37D ENST00000324941 human ensembl 74_37 +1 known missense c.494 p.A165V 0.785 pfam_Mod_r pfam_Mod_r - no_errors VPS37D HGNC ENSG00000176428 16 0 0.00 13 4 23.53 VPS41 0 genome.wustl.edu 37 7 38857431 38857431 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 38857431 38857431 T G SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.436 p.T146P 1.000 superfamily_WD40_repeat_dom,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 tier1 rs35693565 - 58 0 0.00 75 12 13.79 XKR4 0 genome.wustl.edu 37 8 56436043 56436043 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 56436043 56436043 T G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1210 p.F404V 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 76 0 0.00 35 14 28.57 XRN1 0 genome.wustl.edu 37 3 142066091 142066091 + Missense_Mutation SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 3 142066091 142066091 C A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.3862 p.D1288Y 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 tier1 - - 86 0 0.00 30 15 33.33 ZBTB25 0 genome.wustl.edu 37 14 64957175 64957175 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 14 64957175 64957175 C T SNP ZBTB25 ENST00000394715 human ensembl 74_37 -1 known missense c.77 p.C26Y 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB25 HGNC ENSG00000089775 61 0 0.00 50 3 5.66 ZFHX4 0 genome.wustl.edu 37 8 77763213 77763213 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 77763213 77763213 A T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4056 p.K1352N 0.987 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 117 0 0.00 65 36 35.64 ZFP37 0 genome.wustl.edu 37 9 115818904 115818904 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 9 115818904 115818904 G A SNP ZFP37 ENST00000553380 human ensembl 74_37 -1 known missense c.65 p.A22V 0.000 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 ZFP37 HGNC ENSG00000136866 tier1 - - 56 0 0.00 26 12 31.58 ZKSCAN8 0 genome.wustl.edu 37 6 28121231 28121231 + Silent SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 6 28121231 28121231 A T SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known silent c.1173 p.T391 0.987 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZKSCAN8 HGNC ENSG00000198315 tier1 - - 27 0 0.00 25 14 35.90 ZNF100 0 genome.wustl.edu 37 19 21910725 21910725 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 21910725 21910725 G A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.389 p.A130V 0.315 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 ZNF100 HGNC ENSG00000197020 tier1 rs111519833 - 92 0 0.00 40 12 23.08 ZNF185 0 genome.wustl.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e X 152087570 152087572 GAG - DEL ZNF185 ENST00000370270 human ensembl 74_37 +1 known in_frame_del c.475_477 p.E162in_frame_del 0.026:0.052:0.078 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 25 0 0.00 20 4 16.67 ZNF224 0 genome.wustl.edu 37 19 44611163 44611163 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 44611163 44611163 G C SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known missense c.850 p.G284R 0.158 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 ZNF224 HGNC ENSG00000267680 tier1 - - 104 0 0.00 85 7 7.61 ZNF252P 0 genome.wustl.edu 37 8 146203030 146203030 + RNA SNP C C A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 8 146203030 146203030 C A SNP ZNF252P ENST00000426361 human ensembl 74_37 -1 known rna NULL NULL 0.787 - - - no_errors ZNF252P HGNC ENSG00000196922 tier1 - - 75 0 0.00 35 71 66.98 ZNF407 0 genome.wustl.edu 37 18 72775130 72775130 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 18 72775130 72775130 G T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5453 p.C1818F 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 110 0 0.00 51 4 7.27 ZNF461 0 genome.wustl.edu 37 19 37129715 37129715 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 37129715 37129715 C T SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.1532 p.S511N 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 ZNF461 HGNC ENSG00000197808 tier1 - - 93 0 0.00 55 13 19.12 ZNF479 0 genome.wustl.edu 37 7 57188644 57188644 + Missense_Mutation SNP G G A TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 57188644 57188644 G A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.478 p.H160Y 0.001 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 ZNF479 HGNC ENSG00000185177 tier1 - - 224 0 0.00 157 124 44.13 ZNF540 0 genome.wustl.edu 37 19 38102847 38102847 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 38102847 38102847 A G SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known silent c.666 p.K222 0.102 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 ZNF540 HGNC ENSG00000171817 tier1 - - 76 0 0.00 36 17 32.08 ZNF571 0 genome.wustl.edu 37 19 38047033 38047033 + Missense_Mutation SNP T T G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 38047033 38047033 T G SNP ZNF571 ENST00000590751 human ensembl 74_37 -1 putative missense c.167 p.N56T 0.185 superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_FMuLV_rcpt-bd,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 tier1 - - 48 0 0.00 30 13 30.23 ZNF587 0 genome.wustl.edu 37 19 58370470 58370470 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 58370470 58370470 C T SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known silent c.690 p.H230 0.997 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 ZNF587 HGNC ENSG00000198466 tier1 - - 35 0 0.00 26 9 25.71 ZNF598 0 genome.wustl.edu 37 16 2051642 2051642 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 16 2051642 2051642 C T SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.955 p.A319T 0.260 NULL superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 75 0 0.00 38 2 5.00 ZNF66 0 genome.wustl.edu 37 19 20989458 20989458 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 20989458 20989458 A T SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known missense c.1052 p.K351M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66 HGNC ENSG00000160229 tier1 - - 43 0 0.00 22 11 33.33 ZNF675 0 genome.wustl.edu 37 19 23836409 23836409 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 23836409 23836409 A G SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known silent c.1326 p.H442 0.665 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 ZNF675 HGNC ENSG00000197372 tier1 - - 76 0 0.00 38 20 34.48 ZNF727 0 genome.wustl.edu 37 7 63529325 63529325 + Silent SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 63529325 63529325 C T SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known silent c.60 p.C20 0.905 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF727 HGNC ENSG00000257482 tier1 - - 136 0 0.00 85 6 6.59 ZNF727 0 genome.wustl.edu 37 7 63538876 63538876 + Missense_Mutation SNP G G C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 63538876 63538876 G C SNP ZNF727 ENST00000550760 human ensembl 74_37 +1 known missense c.1449 p.K483N 0.069 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 ZNF727 HGNC ENSG00000257482 tier1 - - 82 0 0.00 48 6 11.11 ZNF736 0 genome.wustl.edu 37 7 63808618 63808618 + Missense_Mutation SNP A A T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 7 63808618 63808618 A T SNP ZNF736 ENST00000355095 human ensembl 74_37 +1 known missense c.377 p.Q126L 0.001 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 - - 75 0 0.00 28 20 41.67 ZNF772 0 genome.wustl.edu 37 19 57984813 57984813 + Silent SNP A A G TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 57984813 57984813 A G SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.1299 p.P433 0.149 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 ZNF772 HGNC ENSG00000197128 tier1 - - 65 0 0.00 42 25 37.31 ZNF878 0 genome.wustl.edu 37 19 12155719 12155719 + Missense_Mutation SNP G G T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 12155719 12155719 G T SNP ZNF878 ENST00000602107 human ensembl 74_37 -1 known missense c.638 p.S213Y 0.996 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 ZNF878 HGNC ENSG00000257446 tier1 - - 103 0 0.00 81 5 5.81 ZNF90 0 genome.wustl.edu 37 19 20228743 20228743 + Missense_Mutation SNP A A C TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 238ca1a1-3689-4105-838e-7c62d355d0fc 20e06ef0-ace9-4a23-bb45-3a7b8166690e 19 20228743 20228743 A C SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.380 p.K127T 0.000 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 ZNF90 HGNC ENSG00000213988 tier1 - - 159 0 0.00 68 29 29.90