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 ABCC3 8714 genome.wustl.edu 37 17 48761448 48761448 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 48761448 48761448 C T SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known nonsense c.4093 p.Q1365* 0.739 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ACAP2 23527 genome.wustl.edu 37 3 195022341 195022341 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 195022341 195022341 G C SNP ACAP2 ENST00000326793 human ensembl 70_37 -1 known missense c.1358 p.S453C 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ADAMTS2 9509 genome.wustl.edu 37 5 178579207 178579207 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 178579207 178579207 T A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.1565 p.N522I 1.000 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC AKIRIN2 55122 genome.wustl.edu 37 6 88391343 88391343 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 88391343 88391343 G A SNP AKIRIN2 ENST00000257787 human ensembl 70_37 -1 known missense c.374 p.S125L 1.000 NULL NULL - no_errors AKIRIN2 HGNC ANKRD26 22852 genome.wustl.edu 37 10 27382726 27382726 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 27382726 27382726 G A SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known missense c.245 p.T82M 0.996 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD27 84079 genome.wustl.edu 37 19 33096837 33096837 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 33096837 33096837 C T SNP ANKRD27 ENST00000306065 human ensembl 70_37 -1 known silent c.2397 p.S799 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ANXA6 309 genome.wustl.edu 37 5 150497334 150497334 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 150497334 150497334 G A SNP ANXA6 ENST00000354546 human ensembl 70_37 -1 known silent c.1503 p.L501 0.566 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC AQP2 359 genome.wustl.edu 37 12 50348450 50348450 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 50348450 50348450 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.563 p.S188F 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ARMC6 93436 genome.wustl.edu 37 19 19166203 19166203 + Missense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 19166203 19166203 C A SNP ARMC6 ENST00000392336 human ensembl 70_37 +1 known missense c.1153 p.Q385K 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ATAD2 29028 genome.wustl.edu 37 8 124359381 124359381 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 124359381 124359381 C T SNP ATAD2 ENST00000287394 human ensembl 70_37 -1 known silent c.2163 p.Q721 0.992 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ATP10D 57205 genome.wustl.edu 37 4 47565612 47565612 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 47565612 47565612 G A SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known missense c.2683 p.E895K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10D HGNC C16orf70 80262 genome.wustl.edu 37 16 67179511 67179511 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67179511 67179511 G A SNP C16orf70 ENST00000219139 human ensembl 70_37 +1 known silent c.1089 p.E363 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC C2CD3 26005 genome.wustl.edu 37 11 73785628 73785628 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 73785628 73785628 C T SNP C2CD3 ENST00000334126 human ensembl 70_37 -1 known missense c.4621 p.G1541R 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep - no_errors C2CD3 HGNC C8orf44 56260 genome.wustl.edu 37 8 67592258 67592258 + RNA SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 67592258 67592258 G C SNP C8orf44 ENST00000518860 human ensembl 70_37 +1 known rna NULL NULL 0.340 - - - no_errors C8orf44 HGNC CCDC50 152137 genome.wustl.edu 37 3 191047505 191047505 + Silent SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 191047505 191047505 C G SNP CCDC50 ENST00000392456 human ensembl 70_37 +1 known silent c.42 p.V14 0.991 NULL NULL - no_errors CCDC50 HGNC CDKN2AIP 55602 genome.wustl.edu 37 4 184367811 184367811 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 184367811 184367811 C T SNP CDKN2AIP ENST00000504169 human ensembl 70_37 +1 known missense c.974 p.S325L 1.000 NULL pfam_DUF3469,pfscan_Ds-RNA-bd - no_errors CDKN2AIP HGNC CEP128 145508 genome.wustl.edu 37 14 80997191 80997191 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 80997191 80997191 C G SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.2920 p.E974Q 1.000 NULL NULL - no_errors CEP128 HGNC CHST11 50515 genome.wustl.edu 37 12 105151050 105151050 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 105151050 105151050 G C SNP CHST11 ENST00000303694 human ensembl 70_37 +1 known missense c.528 p.L176F 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC CLEC11A 6320 genome.wustl.edu 37 19 51228562 51228562 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 51228562 51228562 C T SNP CLEC11A ENST00000599973 human ensembl 70_37 +1 novel nonsense c.859 p.R287* 0.006 NULL NULL - no_errors CLEC11A HGNC CPN1 1369 genome.wustl.edu 37 10 101835718 101835718 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 101835718 101835718 G C SNP CPN1 ENST00000370418 human ensembl 70_37 -1 known missense c.370 p.H124D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC CPNE6 9362 genome.wustl.edu 37 14 24545480 24545480 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 24545480 24545480 G A SNP CPNE6 ENST00000537691 human ensembl 70_37 +1 known silent c.1212 p.Q404 1.000 pfam_Copine,smart_VWF_A,pfscan_VWF_A pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE6 HGNC CRYBG3 131544 genome.wustl.edu 37 3 97596165 97596165 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 97596165 97596165 G C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.283 p.E95Q 0.997 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC CTNND1 1500 genome.wustl.edu 37 11 57569478 57569478 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 57569478 57569478 C T SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known silent c.1230 p.I410 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC CTSH 1512 genome.wustl.edu 37 15 79217722 79217722 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 79217722 79217722 C G SNP CTSH ENST00000220166 human ensembl 70_37 -1 known missense c.760 p.E254Q 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC CUL5 8065 genome.wustl.edu 37 11 107943062 107943062 + Nonsense_Mutation SNP T T G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 107943062 107943062 T G SNP CUL5 ENST00000393094 human ensembl 70_37 +1 known nonsense c.878 p.L293* 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC CYP4F11 57834 genome.wustl.edu 37 19 16045204 16045204 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 16045204 16045204 G A SNP CYP4F11 ENST00000248041 human ensembl 70_37 -1 known silent c.15 p.S5 0.511 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC CYP4F2 8529 genome.wustl.edu 37 19 15989730 15989730 + Missense_Mutation SNP T T C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 15989730 15989730 T C SNP CYP4F2 ENST00000221700 human ensembl 70_37 -1 known missense c.1414 p.T472A 0.989 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC DNAH2 146754 genome.wustl.edu 37 17 7690336 7690336 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 7690336 7690336 C T SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.6588 p.I2196 0.472 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH6 1768 genome.wustl.edu 37 2 84806723 84806723 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 84806723 84806723 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2149 p.E717K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH6 1768 genome.wustl.edu 37 2 84806735 84806735 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 84806735 84806735 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.2161 p.E721K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DSP 1832 genome.wustl.edu 37 6 7580551 7580552 + Frame_Shift_Ins INS - - AG TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 7580551 7580552 - AG INS DSP ENST00000379802 human ensembl 70_37 +1 known frame_shift_ins c.4128_4129 p.I1376fs 1.000:1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102466695 102466695 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 102466695 102466695 C T SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known nonsense c.4033 p.Q1345* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC EDEM1 9695 genome.wustl.edu 37 3 5251877 5251877 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 5251877 5251877 C G SNP EDEM1 ENST00000256497 human ensembl 70_37 +1 known missense c.1527 p.F509L 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC EEF2 1938 genome.wustl.edu 37 19 3977937 3977937 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 3977937 3977937 G A SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.1947 p.I649 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC EIF2B3 8891 genome.wustl.edu 37 1 45363062 45363062 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 45363062 45363062 C T SNP EIF2B3 ENST00000360403 human ensembl 70_37 -1 known silent c.621 p.L207 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC EMC9 51016 genome.wustl.edu 37 14 24608392 24608392 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 24608392 24608392 C T SNP EMC9 ENST00000216799 human ensembl 70_37 -1 known missense c.454 p.D152N 1.000 pfam_UPF0172 pfam_UPF0172 - no_errors EMC9 HGNC EMD 2010 genome.wustl.edu 37 X 153608140 153608140 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 153608140 153608140 C G SNP EMD ENST00000369842 human ensembl 70_37 +1 known missense c.173 p.S58C 0.046 NULL pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM - no_errors EMD HGNC ENOX2 10495 genome.wustl.edu 37 X 129799721 129799721 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 129799721 129799721 C G SNP ENOX2 ENST00000338144 human ensembl 70_37 -1 known missense c.997 p.E333Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENPP2 5168 genome.wustl.edu 37 8 120650743 120650743 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 120650743 120650743 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.58 p.V20I 0.010 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC EXOSC9 5393 genome.wustl.edu 37 4 122724120 122724120 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 122724120 122724120 G C SNP EXOSC9 ENST00000379663 human ensembl 70_37 +1 known missense c.332 p.R111T 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC F5 2153 genome.wustl.edu 37 1 169525907 169525907 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 169525907 169525907 G C SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.929 p.S310C 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC FAM5B 57795 genome.wustl.edu 37 1 177250575 177250575 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 177250575 177250575 G C SNP FAM5B ENST00000361539 human ensembl 70_37 +1 known missense c.2263 p.E755Q 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5B HGNC FGF9 2254 genome.wustl.edu 37 13 22246199 22246199 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 13 22246199 22246199 G C SNP FGF9 ENST00000382353 human ensembl 70_37 +1 known missense c.148 p.A50P 1.000 NULL pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF9 HGNC FOXD4 2298 genome.wustl.edu 37 9 117888 117888 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 117888 117888 C T SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.232 p.D78N 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC FOXJ2 55810 genome.wustl.edu 37 12 8195264 8195264 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 8195264 8195264 G A SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.344 p.R115Q 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC FRMPD2 143162 genome.wustl.edu 37 10 49459669 49459669 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 49459669 49459669 C A SNP FRMPD2 ENST00000374201 human ensembl 70_37 -1 known nonsense c.91 p.E31* 0.997 smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC FYCO1 79443 genome.wustl.edu 37 3 46008968 46008968 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 46008968 46008968 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.1858 p.E620K 0.714 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC GCG 2641 genome.wustl.edu 37 2 163002156 163002156 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 163002156 163002156 C G SNP GCG ENST00000375497 human ensembl 70_37 -1 known missense c.286 p.E96Q 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC GNAT1 2779 genome.wustl.edu 37 3 50231257 50231257 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 50231257 50231257 G A SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known missense c.521 p.R174Q 0.973 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121414503 121414503 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 121414503 121414503 G C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.4852 p.L1618V 1.000 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48840190 48840190 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 48840190 48840190 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.1269 p.R423 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GRN 2896 genome.wustl.edu 37 17 42427876 42427876 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 42427876 42427876 C T SNP GRN ENST00000053867 human ensembl 70_37 +1 known missense c.529 p.R177C 0.901 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC H3F3A 3020 genome.wustl.edu 37 1 226252059 226252059 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 226252059 226252059 C T SNP H3F3A ENST00000366813 human ensembl 70_37 +1 known missense c.7 p.R3C 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 HORMAD1 84072 genome.wustl.edu 37 1 150671335 150671335 + RNA SNP A A G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 150671335 150671335 A G SNP HORMAD1 ENST00000470397 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors HORMAD1 HGNC IQSEC1 9922 genome.wustl.edu 37 3 12983327 12983327 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 12983327 12983327 G A SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.104 p.S35F 0.766 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC ITGA8 8516 genome.wustl.edu 37 10 15649714 15649714 + Nonsense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 15649714 15649714 T A SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known nonsense c.1726 p.K576* 0.007 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC IZUMO1 284359 genome.wustl.edu 37 19 49248480 49248480 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 49248480 49248480 C T SNP IZUMO1 ENST00000332955 human ensembl 70_37 -1 known missense c.301 p.D101N 0.026 NULL NULL - no_errors IZUMO1 HGNC JAK1 3716 genome.wustl.edu 37 1 65305416 65305416 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 65305416 65305416 C T SNP JAK1 ENST00000342505 human ensembl 70_37 -1 known silent c.2712 p.Q904 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,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 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom - no_errors JAK1 HGNC AREL1 9870 genome.wustl.edu 37 14 75151318 75151318 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 75151318 75151318 G T SNP KIAA0317 ENST00000356357 human ensembl 70_37 -1 known missense c.82 p.R28S 1.000 NULL pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT - no_errors KIAA0317 HGNC KIAA1033 23325 genome.wustl.edu 37 12 105538628 105538628 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 105538628 105538628 T A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.2312 p.L771H 1.000 NULL NULL - no_errors KIAA1033 HGNC KIAA1211L 343990 genome.wustl.edu 37 2 99439361 99439361 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 99439361 99439361 C G SNP KIAA1211L ENST00000397899 human ensembl 70_37 -1 known missense c.1375 p.E459Q 0.489 NULL NULL - no_errors KIAA1211L HGNC KIAA1244 57221 genome.wustl.edu 37 6 138583935 138583935 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 138583935 138583935 G A SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known missense c.1315 p.E439K 0.997 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC KPNA6 23633 genome.wustl.edu 37 1 32620238 32620238 + Frame_Shift_Del DEL G G - TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620238 32620238 G - DEL KPNA6 ENST00000545542 human ensembl 70_37 +1 known frame_shift_del c.69 p.N24fs 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC KPNA6 23633 genome.wustl.edu 37 1 32620244 32620244 + Missense_Mutation SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620244 32620244 T A SNP KPNA6 ENST00000545542 human ensembl 70_37 +1 known missense c.75 p.N25K 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC KPNA6 23633 genome.wustl.edu 37 1 32620245 32620245 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 32620245 32620245 G T SNP KPNA6 ENST00000545542 human ensembl 70_37 +1 known missense c.76 p.A26S 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC KRT6B 3854 genome.wustl.edu 37 12 52843273 52843273 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 52843273 52843273 C G SNP KRT6B ENST00000252252 human ensembl 70_37 -1 known missense c.1057 p.E353Q 0.996 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC LAMP1 3916 genome.wustl.edu 37 13 113975993 113975993 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 13 113975993 113975993 C G SNP LAMP1 ENST00000332556 human ensembl 70_37 +1 known missense c.1065 p.F355L 0.983 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC LETMD1 25875 genome.wustl.edu 37 12 51442848 51442848 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 51442848 51442848 G A SNP LETMD1 ENST00000262055 human ensembl 70_37 +1 known missense c.154 p.D52N 0.907 NULL pfam_LETM1 - no_errors LETMD1 HGNC LRPPRC 10128 genome.wustl.edu 37 2 44123818 44123818 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 44123818 44123818 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known silent c.3855 p.P1285 0.000 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC LRPPRC 10128 genome.wustl.edu 37 2 44190816 44190816 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 44190816 44190816 C A SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known nonsense c.1399 p.E467* 0.275 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC LYPD3 27076 genome.wustl.edu 37 19 43968495 43968495 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 43968495 43968495 C T SNP LYPD3 ENST00000244333 human ensembl 70_37 -1 known missense c.193 p.V65M 0.991 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC MAPK8IP3 23162 genome.wustl.edu 37 16 1793357 1793357 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 1793357 1793357 G A SNP MAPK8IP3 ENST00000250894 human ensembl 70_37 +1 known silent c.624 p.L208 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC MARCH6 10299 genome.wustl.edu 37 5 10417496 10417496 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 10417496 10417496 C G SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known missense c.2263 p.P755A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC MARK1 4139 genome.wustl.edu 37 1 220804416 220804416 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 220804416 220804416 G C SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known missense c.949 p.E317Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC MAST4 375449 genome.wustl.edu 37 5 66427716 66427716 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 66427716 66427716 C T SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.2039 p.T680M 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC METTL25 84190 genome.wustl.edu 37 12 82793053 82793053 + Silent SNP T T A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 82793053 82793053 T A SNP METTL25 ENST00000248306 human ensembl 70_37 +1 known silent c.1011 p.S337 0.939 NULL NULL - no_errors METTL25 HGNC MICA 100507436 genome.wustl.edu 37 6 31380161 31380162 + Frame_Shift_Ins INS - - CT TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 31380161 31380162 - CT INS MICA ENST00000364810 human ensembl 70_37 +1 known frame_shift_ins c.952_953 p.G318fs 0.000:0.001 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors MICA HGNC MTMR9 66036 genome.wustl.edu 37 8 11180146 11180146 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 11180146 11180146 G A SNP MTMR9 ENST00000221086 human ensembl 70_37 +1 known missense c.1499 p.R500H 0.999 NULL pfam_Myotub-related - no_errors MTMR9 HGNC MYH1 4619 genome.wustl.edu 37 17 10400712 10400712 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 10400712 10400712 G C SNP MYH1 ENST00000226207 human ensembl 70_37 -1 known missense c.4423 p.Q1475E 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC NBPF1 55672 genome.wustl.edu 37 1 16890647 16890647 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 16890647 16890647 C T SNP NBPF1 ENST00000401007 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors NBPF1 HGNC NECAP2 55707 genome.wustl.edu 37 1 16767245 16767245 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 16767245 16767245 C T SNP NECAP2 ENST00000486390 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors NECAP2 HGNC NFE2L3 9603 genome.wustl.edu 37 7 26224536 26224536 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 26224536 26224536 C G SNP NFE2L3 ENST00000056233 human ensembl 70_37 +1 known missense c.1218 p.I406M 0.153 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC NLRP3 114548 genome.wustl.edu 37 1 247588394 247588394 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 247588394 247588394 G A SNP NLRP3 ENST00000336119 human ensembl 70_37 +1 known missense c.1649 p.R550H 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC NLRP9 338321 genome.wustl.edu 37 19 56244845 56244845 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 56244845 56244845 G A SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known missense c.352 p.H118Y 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NUDT1 4521 genome.wustl.edu 37 7 2284330 2284330 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 2284330 2284330 G C SNP NUDT1 ENST00000343985 human ensembl 70_37 +1 known missense c.190 p.E64Q 0.968 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC NUTF2 10204 genome.wustl.edu 37 16 67902253 67902253 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67902253 67902253 C T SNP NUTF2 ENST00000219169 human ensembl 70_37 +1 known missense c.110 p.S37L 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC NUTF2 10204 genome.wustl.edu 37 16 67902436 67902436 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 67902436 67902436 C T SNP NUTF2 ENST00000219169 human ensembl 70_37 +1 known silent c.204 p.I68 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NUTF2 HGNC OPA1 4976 genome.wustl.edu 37 3 193380646 193380646 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 193380646 193380646 G A SNP OPA1 ENST00000361510 human ensembl 70_37 +1 known silent c.2556 p.K852 0.999 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC OR1N1 138883 genome.wustl.edu 37 9 125288641 125288641 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 125288641 125288641 G A SNP OR1N1 ENST00000304880 human ensembl 70_37 -1 known missense c.932 p.S311F 0.053 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N1 HGNC OXNAD1 92106 genome.wustl.edu 37 3 16345057 16345057 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 16345057 16345057 G T SNP OXNAD1 ENST00000544043 human ensembl 70_37 +1 known missense c.981 p.E327D 1.000 NULL pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC PBRM1 55193 genome.wustl.edu 37 3 52651372 52651372 + Missense_Mutation SNP A A T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 52651372 52651372 A T SNP PBRM1 ENST00000296302 human ensembl 70_37 -1 known missense c.1724 p.I575N 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_superfamily,superfamily_Bromodomain,superfamily_HMG_superfamily,smart_Bromodomain,smart_BAH_dom,smart_HMG_superfamily,pfscan_BAH_dom,pfscan_HMG_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC PCDHB2 56133 genome.wustl.edu 37 5 140476487 140476487 + Missense_Mutation SNP T T C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 140476487 140476487 T C SNP PCDHB2 ENST00000194155 human ensembl 70_37 +1 known missense c.2113 p.F705L 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC PCYT1B 9468 genome.wustl.edu 37 X 24593430 24593430 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 24593430 24593430 C G SNP PCYT1B ENST00000379144 human ensembl 70_37 -1 known missense c.714 p.K238N 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC PHACTR4 65979 genome.wustl.edu 37 1 28823241 28823241 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 28823241 28823241 G A SNP PHACTR4 ENST00000493669 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PHACTR4 HGNC PLA1A 51365 genome.wustl.edu 37 3 119344010 119344010 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 119344010 119344010 G C SNP PLA1A ENST00000273371 human ensembl 70_37 +1 known missense c.1052 p.R351T 0.995 pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC POU3F2 5454 genome.wustl.edu 37 6 99283888 99283888 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 99283888 99283888 C A SNP POU3F2 ENST00000328345 human ensembl 70_37 +1 known nonsense c.1139 p.S380* 1.000 pirsf_Transcription_factor_POU,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,prints_POU,pfscan_Homeodomain,pfscan_POU_specific - no_errors POU3F2 HGNC PPIP5K1 9677 genome.wustl.edu 37 15 43873496 43873496 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 43873496 43873496 C G SNP PPIP5K1 ENST00000420765 human ensembl 70_37 -1 known missense c.868 p.E290Q 1.000 NULL pfam_His_Pase_superF_clade-2,superfamily_MTCP1 - no_errors PPIP5K1 HGNC PRKG2 5593 genome.wustl.edu 37 4 82088333 82088333 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 82088333 82088333 G A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known silent c.894 p.I298 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC PRRX1 5396 genome.wustl.edu 37 1 170705270 170705270 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 170705270 170705270 G C SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known silent c.681 p.L227 1.000 pfam_OAR_dom,pfscan_OAR_dom pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC PRSS37 136242 genome.wustl.edu 37 7 141539208 141539208 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 141539208 141539208 G A SNP PRSS37 ENST00000350549 human ensembl 70_37 -1 known missense c.106 p.H36Y 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS37 HGNC PSMA3 5684 genome.wustl.edu 37 14 58711623 58711623 + RNA SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 14 58711623 58711623 C G SNP PSMA3 ENST00000554456 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMA3 HGNC PTPRN2 5799 genome.wustl.edu 37 7 158109594 158109594 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 158109594 158109594 G A SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known missense c.263 p.P88L 0.801 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC RCC1 1104 genome.wustl.edu 37 1 28861792 28861792 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 28861792 28861792 G A SNP RCC1 ENST00000373831 human ensembl 70_37 +1 known silent c.654 p.L218 1.000 superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCC1 HGNC REXO1 57455 genome.wustl.edu 37 19 1827430 1827430 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 1827430 1827430 C T SNP REXO1 ENST00000170168 human ensembl 70_37 -1 known missense c.1358 p.R453Q 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC RNF113A 7737 genome.wustl.edu 37 X 119005291 119005291 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 119005291 119005291 G C SNP RNF113A ENST00000371442 human ensembl 70_37 -1 known missense c.286 p.L96V 0.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC RNF135 84282 genome.wustl.edu 37 17 29314963 29314963 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 29314963 29314963 C G SNP RNF135 ENST00000328381 human ensembl 70_37 +1 known missense c.518 p.A173G 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF135 HGNC RNF39 80352 genome.wustl.edu 37 6 30043424 30043424 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 6 30043424 30043424 G C SNP RNF39 ENST00000244360 human ensembl 70_37 -1 known missense c.143 p.S48C 0.002 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ROCK1 6093 genome.wustl.edu 37 18 18562727 18562727 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 18 18562727 18562727 G A SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known silent c.2556 p.F852 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC RPLP0P2 113157 genome.wustl.edu 37 11 61404313 61404313 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 61404313 61404313 G A SNP RPLP0P2 ENST00000496593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC RPLP0P2 113157 genome.wustl.edu 37 11 61404631 61404631 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 61404631 61404631 G A SNP RPLP0P2 ENST00000496593 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC RRAGC 64121 genome.wustl.edu 37 1 39318163 39318163 + RNA SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 39318163 39318163 G A SNP RRAGC ENST00000496778 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RRAGC HGNC S1PR1 1901 genome.wustl.edu 37 1 101704600 101704600 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 101704600 101704600 C T SNP S1PR1 ENST00000305352 human ensembl 70_37 +1 known silent c.60 p.V20 1.000 prints_S1P_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC SALL4 57167 genome.wustl.edu 37 20 50407563 50407563 + Nonsense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 20 50407563 50407563 G A SNP SALL4 ENST00000217086 human ensembl 70_37 -1 known nonsense c.1459 p.Q487* 0.993 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC SGK223 157285 genome.wustl.edu 37 8 8235381 8235381 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 8 8235381 8235381 C T SNP SGK223 ENST00000330777 human ensembl 70_37 -1 known missense c.538 p.V180M 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SGK223 Uniprot_genename SLC5A1 6523 genome.wustl.edu 37 22 32495249 32495249 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 22 32495249 32495249 G A SNP SLC5A1 ENST00000266088 human ensembl 70_37 +1 known missense c.1360 p.D454N 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC SMAD5 4090 genome.wustl.edu 37 5 135513103 135513103 + Nonsense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 5 135513103 135513103 C T SNP SMAD5 ENST00000545279 human ensembl 70_37 +1 known nonsense c.1330 p.Q444* 1.000 superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD5 HGNC SNORD3A 780851 genome.wustl.edu 37 17 19091431 19091431 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 19091431 19091431 C T SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.785 - - - no_errors SNORD3A HGNC SOX3 6658 genome.wustl.edu 37 X 139586893 139586893 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 X 139586893 139586893 C T SNP SOX3 ENST00000370536 human ensembl 70_37 -1 known silent c.333 p.A111 0.908 NULL pfam_HMG_superfamily,pfam_TF_SOX,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX3 HGNC SPAG9 9043 genome.wustl.edu 37 17 49054561 49054561 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 49054561 49054561 G C SNP SPAG9 ENST00000262013 human ensembl 70_37 -1 known missense c.3431 p.S1144C 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC SPATA12 353324 genome.wustl.edu 37 3 57108134 57108134 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 57108134 57108134 G A SNP SPATA12 ENST00000334325 human ensembl 70_37 +1 known missense c.412 p.E138K 0.000 NULL NULL - no_errors SPATA12 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84608577 84608577 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 84608577 84608577 G C SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known silent c.3192 p.L1064 0.000 NULL NULL - no_errors SPATA31D1 HGNC SRCAP 10847 genome.wustl.edu 37 16 30721367 30721367 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 30721367 30721367 C G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.1052 p.S351C 0.971 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRD5A3 79644 genome.wustl.edu 37 4 56212638 56212638 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 56212638 56212638 C G SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known missense c.135 p.I45M 0.973 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC SRRT 51593 genome.wustl.edu 37 7 100485384 100485384 + Missense_Mutation SNP A A G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 100485384 100485384 A G SNP SRRT ENST00000388793 human ensembl 70_37 +1 known missense c.2227 p.K743E 1.000 pfam_Arsenite-R_2 pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC SSPO 23145 genome.wustl.edu 37 7 149494368 149494368 + RNA SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 149494368 149494368 C G SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.228 - - - no_errors SSPO HGNC SULT1C3 442038 genome.wustl.edu 37 2 108881768 108881768 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 108881768 108881768 G A SNP SULT1C3 ENST00000329106 human ensembl 70_37 +1 known silent c.876 p.K292 0.999 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C3 HGNC TADA2A 6871 genome.wustl.edu 37 17 35804840 35804840 + Missense_Mutation SNP T T G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 35804840 35804840 T G SNP TADA2A ENST00000225396 human ensembl 70_37 +1 known missense c.574 p.F192V 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC TBX4 9496 genome.wustl.edu 37 17 59557640 59557640 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 59557640 59557640 G C SNP TBX4 ENST00000393853 human ensembl 70_37 +1 known missense c.981 p.Q327H 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX4 HGNC TEKT4 150483 genome.wustl.edu 37 2 95542476 95542476 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 2 95542476 95542476 C T SNP TEKT4 ENST00000295201 human ensembl 70_37 +1 known missense c.1270 p.R424C 0.689 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC TIAM1 7074 genome.wustl.edu 37 21 32598165 32598165 + Silent SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 21 32598165 32598165 G C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known silent c.1686 p.L562 0.998 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC TLN2 83660 genome.wustl.edu 37 15 62942299 62942299 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 15 62942299 62942299 C T SNP TLN2 ENST00000306829 human ensembl 70_37 +1 known silent c.153 p.L51 0.996 NULL pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC TOM1L2 146691 genome.wustl.edu 37 17 17772740 17772740 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 17772740 17772740 G A SNP TOM1L2 ENST00000379504 human ensembl 70_37 -1 known silent c.825 p.L275 1.000 pfam_GAT,pirsf_TOM1,pfscan_GAT pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L2 HGNC TP53 7157 genome.wustl.edu 37 17 7578382 7578382 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 7578382 7578382 G C SNP TP53 ENST00000269305 human ensembl 70_37 -1 known nonsense c.548 p.S183* 0.011 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 TRAK1 22906 genome.wustl.edu 37 3 42132994 42132994 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 42132994 42132994 C T SNP TRAK1 ENST00000327628 human ensembl 70_37 +1 putative silent c.33 p.V11 0.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC TRIM47 91107 genome.wustl.edu 37 17 73871532 73871532 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 73871532 73871532 C G SNP TRIM47 ENST00000254816 human ensembl 70_37 -1 known missense c.1225 p.E409Q 0.891 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM47 HGNC TSHZ3 57616 genome.wustl.edu 37 19 31770291 31770291 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 31770291 31770291 G A SNP TSHZ3 ENST00000240587 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC TSSC2 7261 genome.wustl.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 3427845 3427845 C T SNP TSSC2 ENST00000529482 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TSSC2 HGNC TTLL12 23170 genome.wustl.edu 37 22 43565562 43565562 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 22 43565562 43565562 C G SNP TTLL12 ENST00000216129 human ensembl 70_37 -1 known missense c.1588 p.E530Q 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL12 HGNC TUBD1 51174 genome.wustl.edu 37 17 57958298 57958298 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 17 57958298 57958298 G C SNP TUBD1 ENST00000325752 human ensembl 70_37 -1 known nonsense c.494 p.S165* 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC UBFD1 56061 genome.wustl.edu 37 16 23573950 23573950 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 16 23573950 23573950 G A SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known missense c.1307 p.R436H 1.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC UGT2B15 7366 genome.wustl.edu 37 4 69513036 69513036 + Missense_Mutation SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 69513036 69513036 C T SNP UGT2B15 ENST00000338206 human ensembl 70_37 -1 known missense c.1379 p.R460Q 0.831 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC VPS13D 55187 genome.wustl.edu 37 1 12321050 12321050 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 12321050 12321050 G A SNP VPS13D ENST00000358136 human ensembl 70_37 +1 known missense c.1258 p.A420T 0.125 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC WDR49 151790 genome.wustl.edu 37 3 167293737 167293737 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 167293737 167293737 G A SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known missense c.455 p.T152I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 WDR49 HGNC WDR65 149465 genome.wustl.edu 37 1 43650992 43650992 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 43650992 43650992 G A SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.934 p.E312K 0.989 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR65 149465 genome.wustl.edu 37 1 43651019 43651019 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 43651019 43651019 G C SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known missense c.961 p.E321Q 1.000 superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR74 54663 genome.wustl.edu 37 11 62601346 62601346 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 11 62601346 62601346 G C SNP WDR74 ENST00000278856 human ensembl 70_37 -1 known nonsense c.839 p.S280* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR74 HGNC ZAN 7455 genome.wustl.edu 37 7 100355923 100355923 + Silent SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 7 100355923 100355923 C T SNP ZAN ENST00000546292 human ensembl 70_37 +1 known silent c.3408 p.T1136 0.000 smart_VWC_out pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZBTB37 84614 genome.wustl.edu 37 1 173840150 173840150 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 173840150 173840150 G C SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.787 p.E263Q 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZBTB37 84614 genome.wustl.edu 37 1 173840188 173840188 + Silent SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 173840188 173840188 G T SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known silent c.825 p.V275 0.998 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZFAND5 7763 genome.wustl.edu 37 9 74971875 74971875 + Missense_Mutation SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 9 74971875 74971875 G T SNP ZFAND5 ENST00000237937 human ensembl 70_37 -1 known missense c.465 p.F155L 1.000 pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1 pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1 - no_errors ZFAND5 HGNC ZMPSTE24 10269 genome.wustl.edu 37 1 40726594 40726594 + Silent SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 1 40726594 40726594 C G SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known silent c.207 p.L69 0.939 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ZNF148 7707 genome.wustl.edu 37 3 124951197 124951197 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 3 124951197 124951197 C G SNP ZNF148 ENST00000360647 human ensembl 70_37 -1 known missense c.2373 p.Q791H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ZNF227 7770 genome.wustl.edu 37 19 44740134 44740134 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 44740134 44740134 G A SNP ZNF227 ENST00000313040 human ensembl 70_37 +1 known silent c.1551 p.E517 1.000 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 ZNF227 HGNC ZNF384 171017 genome.wustl.edu 37 12 6776900 6776900 + Nonsense_Mutation SNP C C A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 12 6776900 6776900 C A SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known nonsense c.1714 p.E572* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ZNF433 163059 genome.wustl.edu 37 19 12125757 12125757 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 12125757 12125757 C G SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.1925 p.G642A 1.000 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 ZNF433 HGNC ZNF511 118472 genome.wustl.edu 37 10 135165615 135165615 + Missense_Mutation SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 10 135165615 135165615 G A SNP ZNF511 ENST00000368554 human ensembl 70_37 +1 known missense c.710 p.R237Q 0.003 NULL smart_Znf_C2H2-like - no_errors ZNF511 HGNC ZNF607 84775 genome.wustl.edu 37 19 38200684 38200684 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 38200684 38200684 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known missense c.49 p.H17D 0.987 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 ZNF607 HGNC ZNF607 84775 genome.wustl.edu 37 19 38200719 38200719 + Nonsense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 38200719 38200719 G C SNP ZNF607 ENST00000355202 human ensembl 70_37 -1 known nonsense c.14 p.S5* 0.003 superfamily_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 ZNF607 HGNC ZNF812 729648 genome.wustl.edu 37 19 9801621 9801621 + Silent SNP G G A TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 19 9801621 9801621 G A SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known silent c.558 p.I186 0.116 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 ZNF812 HGNC ZNF876P 642280 genome.wustl.edu 37 4 247375 247375 + RNA SNP C C T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 21b83870-9be0-44d2-9365-da0ac1eb44e6 c697db9d-0569-4f05-a3c3-b470633c5927 4 247375 247375 C T SNP ZNF876P ENST00000356347 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF876P HGNC