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 A2ML1 144568 genome.wustl.edu 37 12 8982339 8982339 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 8982339 8982339 C T SNP A2ML1 ENST00000299698 human ensembl 70_37 +1 known silent c.426 p.V142 0.888 pfam_A2M_N pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,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 A2ML1 HGNC ABCA8 10351 genome.wustl.edu 37 17 66924155 66924155 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 66924155 66924155 G A SNP ABCA8 ENST00000430352 human ensembl 70_37 -1 known missense c.1175 p.S392L 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ADAMTS14 140766 genome.wustl.edu 37 10 72520346 72520346 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 72520346 72520346 C A SNP ADAMTS14 ENST00000373208 human ensembl 70_37 +1 known missense c.3418 p.P1140T 0.003 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS14 HGNC ADPRHL1 113622 genome.wustl.edu 37 13 114083292 114083292 + Nonsense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 13 114083292 114083292 G T SNP ADPRHL1 ENST00000375418 human ensembl 70_37 -1 known nonsense c.621 p.C207* 0.999 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRHL1 HGNC ANKRD30BP2 149992 genome.wustl.edu 37 21 14418615 14418615 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 14418615 14418615 C T SNP ANKRD30BP2 ENST00000507941 human ensembl 70_37 +1 known rna NULL NULL 0.093 - - - no_errors ANKRD30BP2 HGNC AQP11 282679 genome.wustl.edu 37 11 77301505 77301505 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 77301505 77301505 G A SNP AQP11 ENST00000313578 human ensembl 70_37 +1 known silent c.468 p.K156 0.167 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP - no_errors AQP11 HGNC ARPP21 10777 genome.wustl.edu 37 3 35732402 35732402 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 35732402 35732402 G C SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.591 p.M197I 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ATP6V0A1 535 genome.wustl.edu 37 17 40672680 40672680 + Splice_Site SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 40672680 40672680 G T SNP ATP6V0A1 ENST00000587797 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors ATP6V0A1 HGNC BAP1 8314 genome.wustl.edu 37 3 52439883 52439883 + Nonsense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 52439883 52439883 G A SNP BAP1 ENST00000460680 human ensembl 70_37 -1 known nonsense c.829 p.Q277* 1.000 NULL pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors BAP1 HGNC BCLAF1 9774 genome.wustl.edu 37 6 136599126 136599126 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 136599126 136599126 C T SNP BCLAF1 ENST00000531224 human ensembl 70_37 -1 known missense c.893 p.R298Q 1.000 NULL NULL - no_errors BCLAF1 HGNC BICD1 636 genome.wustl.edu 37 12 32481347 32481347 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 32481347 32481347 G C SNP BICD1 ENST00000281474 human ensembl 70_37 +1 known missense c.1958 p.R653T 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC-like - no_errors BICD1 HGNC C14orf37 145407 genome.wustl.edu 37 14 58605832 58605832 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 58605832 58605832 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.245 p.S82L 0.263 NULL NULL - no_errors C14orf37 HGNC C16orf82 162083 genome.wustl.edu 37 16 27080038 27080038 + RNA DEL T T - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 27080038 27080038 T - DEL C16orf82 ENST00000418886 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC C1orf50 79078 genome.wustl.edu 37 1 43239085 43239085 + RNA SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 43239085 43239085 G C SNP C1orf50 ENST00000494155 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors C1orf50 HGNC C4orf36 132989 genome.wustl.edu 37 4 87809368 87809368 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 87809368 87809368 G T SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known silent c.126 p.I42 0.001 NULL NULL - no_errors C4orf36 HGNC CBX1 10951 genome.wustl.edu 37 17 46148890 46148890 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 46148890 46148890 C T SNP CBX1 ENST00000225603 human ensembl 70_37 -1 known silent c.465 p.K155 1.000 pfam_Chromo_shadow_dom,superfamily_Chromodomain-like,smart_Chromo_shadow_dom,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC CCDC141 285025 genome.wustl.edu 37 2 179912014 179912014 + Silent SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 179912014 179912014 G C SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known silent c.222 p.L74 1.000 pfam_Spectrin_repeat pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CCDC22 28952 genome.wustl.edu 37 X 49104953 49104953 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 49104953 49104953 G A SNP CCDC22 ENST00000376227 human ensembl 70_37 +1 known missense c.1298 p.R433H 1.000 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC CCNC 892 genome.wustl.edu 37 6 99997423 99997423 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 99997423 99997423 C G SNP CCNC ENST00000520429 human ensembl 70_37 -1 known missense c.559 p.D187H 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H - no_errors CCNC HGNC CCNC 892 genome.wustl.edu 37 6 99997438 99997438 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 99997438 99997438 C T SNP CCNC ENST00000520429 human ensembl 70_37 -1 known missense c.544 p.D182N 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_C/H - no_errors CCNC HGNC CD99 4267 genome.wustl.edu 37 X 2638398 2638398 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 2638398 2638398 C T SNP CD99 ENST00000381192 human ensembl 70_37 +1 known silent c.195 p.D65 0.013 pfam_CD99L2 pfam_CD99L2 - no_errors CD99 HGNC CDH5 1003 genome.wustl.edu 37 16 66424396 66424396 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 66424396 66424396 G A SNP CDH5 ENST00000341529 human ensembl 70_37 +1 known missense c.872 p.R291Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC CENPI 2491 genome.wustl.edu 37 X 100356281 100356281 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 100356281 100356281 G A SNP CENPI ENST00000372927 human ensembl 70_37 +1 known silent c.222 p.E74 1.000 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC CLDN16 10686 genome.wustl.edu 37 3 190106178 190106178 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 190106178 190106178 G T SNP CLDN16 ENST00000264734 human ensembl 70_37 +1 known missense c.270 p.L90F 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC CRHBP 1393 genome.wustl.edu 37 5 76251689 76251689 + Splice_Site SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 76251689 76251689 G A SNP CRHBP ENST00000274368 human ensembl 70_37 +1 known splice_site c.544+1 e4+1 1.000 - - - no_errors CRHBP HGNC CSPG4P5 114817 genome.wustl.edu 37 15 84957359 84957359 + RNA SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 84957359 84957359 T C SNP CSPG4P5 ENST00000456932 human ensembl 70_37 -1 known rna NULL NULL 0.953 - - - no_errors CSPG4P5 HGNC CWC22 57703 genome.wustl.edu 37 2 180838465 180838465 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 180838465 180838465 C T SNP CWC22 ENST00000295749 human ensembl 70_37 -1 known missense c.646 p.A216T 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC DCAF4L2 138009 genome.wustl.edu 37 8 88885653 88885653 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 88885653 88885653 G A SNP DCAF4L2 ENST00000319675 human ensembl 70_37 -1 known missense c.547 p.P183S 0.972 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC DHX38 9785 genome.wustl.edu 37 16 72137934 72137934 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 72137934 72137934 C T SNP DHX38 ENST00000268482 human ensembl 70_37 +1 known silent c.1914 p.L638 0.998 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC DMD 1756 genome.wustl.edu 37 X 32459402 32459402 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 32459402 32459402 C A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.3816 p.L1272F 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DOCK11 139818 genome.wustl.edu 37 X 117739291 117739291 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 117739291 117739291 G A SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2653 p.E885K 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOCK11 139818 genome.wustl.edu 37 X 117739292 117739292 + Missense_Mutation SNP A A T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 117739292 117739292 A T SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.2654 p.E885V 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DPP4 1803 genome.wustl.edu 37 2 162851875 162851875 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 162851875 162851875 G T SNP DPP4 ENST00000360534 human ensembl 70_37 -1 known missense c.2060 p.T687K 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC DSCAM 1826 genome.wustl.edu 37 21 41561046 41561046 + Nonsense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 41561046 41561046 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known nonsense c.2476 p.R826* 0.845 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC EFCAB4A 283229 genome.wustl.edu 37 11 828915 828915 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 828915 828915 C T SNP EFCAB4A ENST00000450448 human ensembl 70_37 +1 known missense c.229 p.R77W 0.981 pfscan_EF_HAND_2 pfscan_EF_HAND_2 - no_errors EFCAB4A HGNC EIF2AK1 27102 genome.wustl.edu 37 7 6094176 6094176 + Splice_Site SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 6094176 6094176 C T SNP EIF2AK1 ENST00000199389 human ensembl 70_37 -1 known splice_site c.277+1 e2+1 1.000 - - - no_errors EIF2AK1 HGNC COL26A1 136227 genome.wustl.edu 37 7 101063332 101063332 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 101063332 101063332 G A SNP EMID2 ENST00000313669 human ensembl 70_37 +1 known missense c.233 p.R78H 0.999 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors EMID2 HGNC EML5 161436 genome.wustl.edu 37 14 89083219 89083219 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 89083219 89083219 G T SNP EML5 ENST00000554922 human ensembl 70_37 -1 known missense c.5647 p.L1883I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000173213 0 genome.wustl.edu 37 18 47436 47436 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 47436 47436 G A SNP ENSG00000173213 ENST00000573909 human ensembl 70_37 -1 putative missense c.1187 p.A396V 1.000 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000229702 0 genome.wustl.edu 37 X 129649757 129649757 + RNA SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 129649757 129649757 C G SNP ENSG00000229702 ENST00000458525 human ensembl 70_37 -1 known rna NULL NULL 0.977 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000242443 0 genome.wustl.edu 37 15 20776282 20776282 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 20776282 20776282 C T SNP ENSG00000242443 ENST00000485130 human ensembl 70_37 +1 novel rna NULL NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000244701 0 genome.wustl.edu 37 7 141356441 141356441 + RNA SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 141356441 141356441 C T SNP ENSG00000244701 ENST00000467537 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP5-894A10.2 Clone_based_vega_gene ENSG00000255850 0 genome.wustl.edu 37 12 64215870 64215870 + RNA SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 64215870 64215870 G A SNP ENSG00000255850 ENST00000546214 human ensembl 70_37 -1 known rna NULL NULL 0.854 - - - no_errors RP11-415I12.5 Clone_based_vega_gene ERF 2077 genome.wustl.edu 37 19 42752751 42752751 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 42752751 42752751 C G SNP ERF ENST00000222329 human ensembl 70_37 -1 known missense c.1513 p.E505Q 0.849 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERF HGNC ERI3 79033 genome.wustl.edu 37 1 44778898 44778898 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 44778898 44778898 G A SNP ERI3 ENST00000372257 human ensembl 70_37 -1 known silent c.609 p.L203 0.999 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ERI3 HGNC FBXL18 80028 genome.wustl.edu 37 7 5540978 5540978 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 5540978 5540978 G T SNP FBXL18 ENST00000453700 human ensembl 70_37 -1 known missense c.922 p.L308M 0.217 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXL18 HGNC FBXO24 26261 genome.wustl.edu 37 7 100192119 100192119 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 100192119 100192119 G A SNP FBXO24 ENST00000427939 human ensembl 70_37 +1 known missense c.1021 p.V341M 0.994 superfamily_Reg_csome_cond/b-lactamase_inh pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC FCRL2 79368 genome.wustl.edu 37 1 157737271 157737271 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 157737271 157737271 G A SNP FCRL2 ENST00000361516 human ensembl 70_37 -1 known silent c.912 p.L304 0.444 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCRL2 HGNC FSTL5 56884 genome.wustl.edu 37 4 162307436 162307436 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 162307436 162307436 G A SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known silent c.2007 p.S669 1.000 NULL pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC GFI1B 8328 genome.wustl.edu 37 9 135865272 135865272 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 135865272 135865272 G A SNP GFI1B ENST00000339463 human ensembl 70_37 +1 known silent c.792 p.K264 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC GPER 2852 genome.wustl.edu 37 7 1131504 1131504 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 1131504 1131504 G T SNP GPER ENST00000297469 human ensembl 70_37 +1 known missense c.140 p.G47V 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER HGNC GUCA1A 2978 genome.wustl.edu 37 6 42146128 42146128 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 42146128 42146128 C T SNP GUCA1A ENST00000053469 human ensembl 70_37 +1 known silent c.312 p.N104 0.992 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1A HGNC H3F3A 3020 genome.wustl.edu 37 1 226252066 226252066 + Missense_Mutation SNP A A T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 226252066 226252066 A T SNP H3F3A ENST00000366813 human ensembl 70_37 +1 known missense c.14 p.K5M 1.000 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3A HGNC HECTD3 79654 genome.wustl.edu 37 1 45469790 45469790 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 45469790 45469790 G A SNP HECTD3 ENST00000372172 human ensembl 70_37 -1 known silent c.2289 p.F763 0.995 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC HGF 3082 genome.wustl.edu 37 7 81392026 81392026 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 81392026 81392026 C T SNP HGF ENST00000222390 human ensembl 70_37 -1 known missense c.251 p.C84Y 1.000 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGF HGNC HMCN1 83872 genome.wustl.edu 37 1 185950148 185950148 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 185950148 185950148 G T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.2605 p.A869S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,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,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HOXD11 3237 genome.wustl.edu 37 2 176972090 176972090 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 176972090 176972090 G A SNP HOXD11 ENST00000249504 human ensembl 70_37 +1 known missense c.7 p.D3N 1.000 NULL pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXD11 HGNC IDS 3423 genome.wustl.edu 37 X 148585791 148585791 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 148585791 148585791 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.136 p.D46N 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133976858 133976858 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 133976858 133976858 G A SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.2360 p.R787H 0.999 NULL NULL - no_errors JAKMIP3 HGNC KCNV1 27012 genome.wustl.edu 37 8 110980754 110980754 + Nonsense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 110980754 110980754 C A SNP KCNV1 ENST00000297404 human ensembl 70_37 -1 known nonsense c.1066 p.G356* 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5465100 5465100 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 5465100 5465100 G A SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.5653 p.E1885K 0.005 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIF22 3835 genome.wustl.edu 37 16 29811297 29811297 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 29811297 29811297 G A SNP KIF22 ENST00000160827 human ensembl 70_37 +1 known missense c.1208 p.R403Q 0.540 NULL pfam_Kinesin_motor_dom,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF22 HGNC LATS1 9113 genome.wustl.edu 37 6 149997469 149997469 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 149997469 149997469 C A SNP LATS1 ENST00000253339 human ensembl 70_37 -1 known missense c.2810 p.G937V 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS1 HGNC LMTK3 114783 genome.wustl.edu 37 19 49001792 49001792 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 49001792 49001792 G A SNP LMTK3 ENST00000270238 human ensembl 70_37 -1 known missense c.2621 p.P874L 0.099 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC LPHN1 22859 genome.wustl.edu 37 19 14266197 14266197 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 14266197 14266197 C T SNP LPHN1 ENST00000340736 human ensembl 70_37 -1 known missense c.3283 p.V1095I 0.998 pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC LPPR5 163404 genome.wustl.edu 37 1 99422185 99422185 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 99422185 99422185 C T SNP LPPR5 ENST00000263177 human ensembl 70_37 -1 known missense c.350 p.R117H 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_genename LRP6 4040 genome.wustl.edu 37 12 12317428 12317428 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 12317428 12317428 G A SNP LRP6 ENST00000261349 human ensembl 70_37 -1 known missense c.1831 p.R611C 1.000 smart_EG-like_dom,pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC LRRC9 341883 genome.wustl.edu 37 14 60426611 60426611 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 60426611 60426611 G A SNP LRRC9 ENST00000254271 human ensembl 70_37 +1 known missense c.958 p.D320N 0.006 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC9 HGNC MAP2 4133 genome.wustl.edu 37 2 210557519 210557519 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 210557519 210557519 G A SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.625 p.D209N 0.006 NULL pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MDN1 23195 genome.wustl.edu 37 6 90398302 90398302 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 90398302 90398302 G A SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11249 p.A3750V 0.889 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MPP5 64398 genome.wustl.edu 37 14 67799610 67799610 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 67799610 67799610 G T SNP MPP5 ENST00000261681 human ensembl 70_37 +1 known missense c.1965 p.L655F 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP5 HGNC MYO1C 4641 genome.wustl.edu 37 17 1381435 1381435 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 1381435 1381435 G A SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.1347 p.F449 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC NEB 4703 genome.wustl.edu 37 2 152524371 152524371 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 152524371 152524371 G T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.4666 p.P1556T 0.122 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,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 NKAPL 222698 genome.wustl.edu 37 6 28227708 28227708 + Missense_Mutation SNP A A G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 28227708 28227708 A G SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.559 p.K187E 0.992 NULL pfam_DUF926 - no_errors NKAPL HGNC NUBP2 10101 genome.wustl.edu 37 16 1838598 1838598 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 1838598 1838598 G A SNP NUBP2 ENST00000262302 human ensembl 70_37 +1 known missense c.699 p.M233I 0.000 NULL pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,pfam_Anion-transp_ATPase-like_dom,pfam_ArgK - no_errors NUBP2 HGNC OBSCN 84033 genome.wustl.edu 37 1 228468419 228468419 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 228468419 228468419 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.8119 p.D2707N 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OR10J1 26476 genome.wustl.edu 37 1 159410019 159410019 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 159410019 159410019 G T SNP OR10J1 ENST00000423932 human ensembl 70_37 +1 known silent c.471 p.L157 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J1 HGNC OR5AP2 338675 genome.wustl.edu 37 11 56409223 56409223 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56409223 56409223 G T SNP OR5AP2 ENST00000544374 human ensembl 70_37 -1 known silent c.696 p.V232 0.700 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC OR8K1 390157 genome.wustl.edu 37 11 56113585 56113585 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56113585 56113585 C A SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known missense c.71 p.T24K 0.648 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC OR8K1 390157 genome.wustl.edu 37 11 56113638 56113638 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 56113638 56113638 C T SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known silent c.124 p.L42 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC OTC 5009 genome.wustl.edu 37 X 38271134 38271134 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 38271134 38271134 C G SNP OTC ENST00000039007 human ensembl 70_37 +1 known missense c.887 p.S296C 0.969 pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC PATZ1 23598 genome.wustl.edu 37 22 31740386 31740387 + Frame_Shift_Ins INS - - T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 31740386 31740387 - T INS PATZ1 ENST00000266269 human ensembl 70_37 -1 known frame_shift_ins c.1203_1202 p.H401fs 0.961:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC PCDHA6 56142 genome.wustl.edu 37 5 140209119 140209119 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 140209119 140209119 C T SNP PCDHA6 ENST00000529310 human ensembl 70_37 +1 known silent c.1443 p.D481 0.173 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140720214 140720214 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 140720214 140720214 C T SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.1676 p.A559V 0.005 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PEG10 23089 genome.wustl.edu 37 7 94292667 94292667 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 94292667 94292667 A - DEL PEG10 ENST00000493935 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors PEG10 HGNC PPAPDC1A 196051 genome.wustl.edu 37 10 122348880 122348880 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 122348880 122348880 C A SNP PPAPDC1A ENST00000398250 human ensembl 70_37 +1 known missense c.682 p.P228T 1.000 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC PRKCB 5579 genome.wustl.edu 37 16 24231365 24231365 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 24231365 24231365 C T SNP PRKCB ENST00000321728 human ensembl 70_37 +1 known silent c.1947 p.I649 1.000 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC PRL 5617 genome.wustl.edu 37 6 22287704 22287704 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 22287704 22287704 C T SNP PRL ENST00000306482 human ensembl 70_37 -1 known missense c.611 p.R204H 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC PSPH 5723 genome.wustl.edu 37 7 56079283 56079283 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 56079283 56079283 A - DEL PSPH ENST00000459834 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors PSPH HGNC PYGM 5837 genome.wustl.edu 37 11 64518734 64518734 + RNA SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 64518734 64518734 G A SNP PYGM ENST00000462303 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PYGM HGNC RASSF7 8045 genome.wustl.edu 37 11 563402 563402 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 563402 563402 C G SNP RASSF7 ENST00000344375 human ensembl 70_37 +1 known missense c.958 p.L320V 0.004 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC RBCK1 10616 genome.wustl.edu 37 20 389369 389369 + RNA SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 389369 389369 T C SNP RBCK1 ENST00000400245 human ensembl 70_37 +1 known rna NULL NULL 0.936 - - - no_errors RBCK1 HGNC RBM5 10181 genome.wustl.edu 37 3 50155888 50155889 + Frame_Shift_Del DEL GA GA - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 3 50155888 50155889 GA - DEL RBM5 ENST00000347869 human ensembl 70_37 +1 known frame_shift_del c.2447_2448 p.*816fs 1.000:0.999 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC RP1 6101 genome.wustl.edu 37 8 55538851 55538851 + Silent SNP T T A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 55538851 55538851 T A SNP RP1 ENST00000220676 human ensembl 70_37 +1 known silent c.2409 p.P803 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RP1 6101 genome.wustl.edu 37 8 55539381 55539381 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 55539381 55539381 G T SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.2939 p.G980V 0.000 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RSPH10B2 728194 genome.wustl.edu 37 7 6798735 6798735 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 6798735 6798735 G A SNP RSPH10B2 ENST00000297186 human ensembl 70_37 +1 known missense c.275 p.R92H 0.378 pfam_MORN pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC RTN1 6252 genome.wustl.edu 37 14 60212576 60212576 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 60212576 60212576 C G SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.865 p.E289Q 0.081 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC RTN4RL1 146760 genome.wustl.edu 37 17 1840152 1840152 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 1840152 1840152 C T SNP RTN4RL1 ENST00000331238 human ensembl 70_37 -1 known missense c.964 p.D322N 0.997 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC SAMD4A 23034 genome.wustl.edu 37 14 55169040 55169040 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 55169040 55169040 C T SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known missense c.457 p.R153C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4A HGNC SCN4A 6329 genome.wustl.edu 37 17 62020421 62020421 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 62020421 62020421 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.4053 p.T1351 0.453 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCP2 6342 genome.wustl.edu 37 1 53413706 53413706 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 53413706 53413706 G C SNP SCP2 ENST00000371514 human ensembl 70_37 +1 known missense c.153 p.Q51H 0.997 pfam_Thiolase_N,superfamily_Thiolase-like pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom - no_errors SCP2 HGNC SCRN2 90507 genome.wustl.edu 37 17 45918202 45918202 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 45918202 45918202 G A SNP SCRN2 ENST00000290216 human ensembl 70_37 -1 known missense c.8 p.S3L 0.007 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT - no_errors SCRN2 HGNC SEC22B 9554 genome.wustl.edu 37 1 145116147 145116148 + RNA INS - - A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 145116147 145116148 - A INS SEC22B ENST00000453618 human ensembl 70_37 +1 known rna NULL NULL 0.382:0.029 - - - no_errors SEC22B HGNC SEMA7A 8482 genome.wustl.edu 37 15 74704301 74704301 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 15 74704301 74704301 G A SNP SEMA7A ENST00000261918 human ensembl 70_37 -1 known silent c.1347 p.F449 0.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA7A HGNC SH3TC1 54436 genome.wustl.edu 37 4 8218729 8218729 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 8218729 8218729 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known missense c.674 p.T225M 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SLC36A2 153201 genome.wustl.edu 37 5 150718698 150718698 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 150718698 150718698 C A SNP SLC36A2 ENST00000335244 human ensembl 70_37 -1 known missense c.448 p.V150L 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC SMEK2 57223 genome.wustl.edu 37 2 55844417 55844417 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 55844417 55844417 G A SNP SMEK2 ENST00000272313 human ensembl 70_37 -1 known missense c.5 p.S2L 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC SNED1 25992 genome.wustl.edu 37 2 241991561 241991561 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 241991561 241991561 G A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known silent c.1956 p.R652 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SNRPB 6628 genome.wustl.edu 37 20 2443795 2443795 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 2443795 2443795 G T SNP SNRPB ENST00000438552 human ensembl 70_37 -1 known missense c.499 p.Q167K 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPB HGNC SOCS6 9306 genome.wustl.edu 37 18 67992052 67992052 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 67992052 67992052 G T SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known missense c.148 p.D50Y 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC SORCS1 114815 genome.wustl.edu 37 10 108434815 108434815 + Silent SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 10 108434815 108434815 G T SNP SORCS1 ENST00000344440 human ensembl 70_37 -1 known silent c.1932 p.L644 0.134 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC SORL1 6653 genome.wustl.edu 37 11 121425928 121425928 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 121425928 121425928 G T SNP SORL1 ENST00000260197 human ensembl 70_37 +1 known missense c.2472 p.E824D 0.996 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC SREBF1 6720 genome.wustl.edu 37 17 17720301 17720301 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 17720301 17720301 G A SNP SREBF1 ENST00000355815 human ensembl 70_37 -1 known missense c.1846 p.R616C 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SREBF1 HGNC SSC5D 284297 genome.wustl.edu 37 19 56029613 56029613 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 56029613 56029613 C T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.3970 p.H1324Y 0.001 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC ST6GALNAC6 30815 genome.wustl.edu 37 9 130649001 130649001 + Nonsense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 130649001 130649001 G T SNP ST6GALNAC6 ENST00000373142 human ensembl 70_37 -1 putative nonsense c.875 p.S292* 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC SUV39H1 6839 genome.wustl.edu 37 X 48558713 48558713 + Missense_Mutation SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 48558713 48558713 C A SNP SUV39H1 ENST00000337852 human ensembl 70_37 +1 known missense c.430 p.Q144K 0.997 smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC SYN3 8224 genome.wustl.edu 37 22 32924939 32924939 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 32924939 32924939 C T SNP SYN3 ENST00000332840 human ensembl 70_37 -1 known silent c.1152 p.L384 1.000 pfam_Synapsin_ATP-bd_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN3 HGNC SYNE1 23345 genome.wustl.edu 37 6 152651255 152651255 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 152651255 152651255 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.14565 p.R4855 0.067 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TANC1 85461 genome.wustl.edu 37 2 160031609 160031609 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 160031609 160031609 G A SNP TANC1 ENST00000263635 human ensembl 70_37 +1 known missense c.1649 p.S550N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC TBC1D8B 54885 genome.wustl.edu 37 X 106116848 106116848 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 106116848 106116848 G C SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.3016 p.D1006H 0.993 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC TCL6 27004 genome.wustl.edu 37 14 96129713 96129713 + RNA SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 14 96129713 96129713 G C SNP TCL6 ENST00000352367 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors TCL6 HGNC TDRD10 126668 genome.wustl.edu 37 1 154520221 154520221 + RNA SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 154520221 154520221 G T SNP TDRD10 ENST00000479937 human ensembl 70_37 +1 known rna NULL NULL 0.284 - - - no_errors TDRD10 HGNC THOP1 7064 genome.wustl.edu 37 19 2796129 2796129 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 2796129 2796129 G T SNP THOP1 ENST00000307741 human ensembl 70_37 +1 known missense c.429 p.E143D 1.000 NULL pfam_Pept_M3A_M3B - no_errors THOP1 HGNC TMEM132C 92293 genome.wustl.edu 37 12 129190459 129190459 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 12 129190459 129190459 G T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.2946 p.E982D 0.956 NULL NULL - no_errors TMEM132C HGNC TMEM144 55314 genome.wustl.edu 37 4 159140497 159140497 + Nonsense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 4 159140497 159140497 C G SNP TMEM144 ENST00000296529 human ensembl 70_37 +1 known nonsense c.368 p.S123* 0.756 pfam_DUF1632_TMEM144 pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC TOX 9760 genome.wustl.edu 37 8 59872531 59872531 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 59872531 59872531 G T SNP TOX ENST00000361421 human ensembl 70_37 -1 known missense c.139 p.P47T 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX HGNC TRIM67 440730 genome.wustl.edu 37 1 231298820 231298820 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 231298820 231298820 G A SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known silent c.105 p.A35 0.955 smart_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC TRIM72 493829 genome.wustl.edu 37 16 31235905 31235905 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 16 31235905 31235905 C T SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known silent c.1263 p.D421 0.982 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC TRIOBP 11078 genome.wustl.edu 37 22 38119251 38119251 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 38119251 38119251 G A SNP TRIOBP ENST00000406386 human ensembl 70_37 +1 known missense c.688 p.G230R 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC TROVE2 6738 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 1 193053997 193053997 A - DEL TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC TRPV3 162514 genome.wustl.edu 37 17 3438998 3438998 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 3438998 3438998 G T SNP TRPV3 ENST00000301365 human ensembl 70_37 -1 known missense c.653 p.A218E 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC TSPEAR 54084 genome.wustl.edu 37 21 45953608 45953608 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 21 45953608 45953608 C T SNP TSPEAR ENST00000323084 human ensembl 70_37 -1 known missense c.502 p.V168I 0.013 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC TSTD2 158427 genome.wustl.edu 37 9 100368457 100368457 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 100368457 100368457 G C SNP TSTD2 ENST00000341170 human ensembl 70_37 -1 known missense c.922 p.L308V 0.998 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC TTN 7273 genome.wustl.edu 37 2 179452396 179452396 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 2 179452396 179452396 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.55936 p.D18646N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUSC1 286319 genome.wustl.edu 37 9 25677836 25677836 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 9 25677836 25677836 C G SNP TUSC1 ENST00000358022 human ensembl 70_37 -1 known missense c.484 p.E162Q 0.901 NULL NULL - no_errors TUSC1 HGNC UBA2 10054 genome.wustl.edu 37 19 34936007 34936007 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 34936007 34936007 C T SNP UBA2 ENST00000246548 human ensembl 70_37 +1 known missense c.752 p.P251L 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC UBR5 51366 genome.wustl.edu 37 8 103269876 103269876 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 8 103269876 103269876 G T SNP UBR5 ENST00000520539 human ensembl 70_37 -1 known missense c.8171 p.T2724K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC UNC13A 23025 genome.wustl.edu 37 19 17716873 17716873 + Missense_Mutation SNP G G T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 17716873 17716873 G T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known missense c.5366 p.P1789H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC93A 54346 genome.wustl.edu 37 6 167711437 167711437 + Silent SNP C C A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 6 167711437 167711437 C A SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known silent c.504 p.T168 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC USP51 158880 genome.wustl.edu 37 X 55515182 55515182 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c X 55515182 55515182 C T SNP USP51 ENST00000500968 human ensembl 70_37 -1 known missense c.191 p.R64H 0.000 NULL pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC USP6 9098 genome.wustl.edu 37 17 5042423 5042423 + Missense_Mutation SNP T T C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 5042423 5042423 T C SNP USP6 ENST00000304328 human ensembl 70_37 +1 known missense c.74 p.V25A 0.024 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP6 HGNC VCAN 1462 genome.wustl.edu 37 5 82818048 82818048 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 5 82818048 82818048 C G SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.3923 p.S1308C 0.760 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VPS16 64601 genome.wustl.edu 37 20 2843296 2843296 + Silent SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 20 2843296 2843296 G A SNP VPS16 ENST00000380445 human ensembl 70_37 +1 known silent c.1143 p.Q381 1.000 pfam_Vps16_N,pirsf_VPS16 pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16 - no_errors VPS16 HGNC WDR16 146845 genome.wustl.edu 37 17 9480072 9480072 + Missense_Mutation SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 17 9480072 9480072 C G SNP WDR16 ENST00000352665 human ensembl 70_37 +1 known missense c.60 p.I20M 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC WDR7 23335 genome.wustl.edu 37 18 54350029 54350029 + Missense_Mutation SNP G G C TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 18 54350029 54350029 G C SNP WDR7 ENST00000254442 human ensembl 70_37 +1 known missense c.465 p.K155N 1.000 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ZBTB16 7704 genome.wustl.edu 37 11 113934839 113934839 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 11 113934839 113934839 G A SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.817 p.E273K 0.999 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ZC3H7B 23264 genome.wustl.edu 37 22 41752398 41752398 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 22 41752398 41752398 G A SNP ZC3H7B ENST00000351589 human ensembl 70_37 +1 known missense c.2435 p.G812E 1.000 NULL pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ZKSCAN5 23660 genome.wustl.edu 37 7 99103863 99103863 + Missense_Mutation SNP G G A TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 7 99103863 99103863 G A SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known missense c.196 p.E66K 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZKSCAN5 HGNC ZNF234 10780 genome.wustl.edu 37 19 44662099 44662099 + Nonsense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 44662099 44662099 C T SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known nonsense c.1930 p.R644* 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 ZNF234 HGNC ZNF257 113835 genome.wustl.edu 37 19 22271011 22271011 + Silent SNP C C G TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 22271011 22271011 C G SNP ZNF257 ENST00000594947 human ensembl 70_37 +1 known silent c.459 p.V153 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 ZNF257 HGNC ZNF548 147694 genome.wustl.edu 37 19 57910879 57910879 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 57910879 57910879 C T SNP ZNF548 ENST00000336128 human ensembl 70_37 +1 known silent c.1260 p.L420 0.005 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 ZNF548 HGNC ZNF85 7639 genome.wustl.edu 37 19 21132636 21132636 + Missense_Mutation SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4f7ace06-cf96-4991-97de-56125566dc98 678d2d3e-04d3-499b-bc79-158fc6c1ff7c 19 21132636 21132636 C T SNP ZNF85 ENST00000328178 human ensembl 70_37 +1 known missense c.1316 p.S439L 0.001 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 ZNF85 HGNC