Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCF3 0 genome.wustl.edu 37 3 183907232 183907232 + Splice_Site SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 183907232 183907232 G A SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known splice_site c.1113+1 e12+1 1.000 - - - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 26 0 0.00 55 12 17.91 ABCF3 0 genome.wustl.edu 37 3 183907232 183907232 + Splice_Site SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 183907232 183907232 G A SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known splice_site c.1113+1 e12+1 1.000 - - - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 35 0 0.00 55 12 17.91 ACAD9 0 genome.wustl.edu 37 3 128614245 128614245 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 128614245 128614245 G T SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known missense c.439 p.A147S 1.000 pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD9 HGNC ENSG00000177646 32 0 0.00 71 4 5.33 ACOXL 0 genome.wustl.edu 37 2 111542371 111542371 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 111542371 111542371 G A SNP ACOXL ENST00000439055 human ensembl 74_37 +1 known silent c.138 p.A46 0.003 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase - no_errors ACOXL HGNC ENSG00000153093 tier1 - - 29 0 0.00 28 19 40.43 ADAD1 0 genome.wustl.edu 37 4 123333900 123333900 + Silent SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 123333900 123333900 T C SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1185 p.L395 0.998 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 35 0 0.00 26 7 21.21 ADAD1 0 genome.wustl.edu 37 4 123333900 123333900 + Silent SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 123333900 123333900 T C SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known silent c.1185 p.L395 0.998 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 - - 47 0 0.00 26 7 21.21 ADAMTS20 0 genome.wustl.edu 37 12 43925975 43925975 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 43925975 43925975 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.477 p.N159 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 36 0 0.00 33 14 29.79 ADAMTS20 0 genome.wustl.edu 37 12 43925975 43925975 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 43925975 43925975 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.477 p.N159 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 40 0 0.00 33 14 29.79 ADAMTSL1 0 genome.wustl.edu 37 9 18680353 18680353 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 18680353 18680353 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.1180 p.G394R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 27 0 0.00 26 13 33.33 ADAMTSL1 0 genome.wustl.edu 37 9 18680353 18680353 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 18680353 18680353 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.1180 p.G394R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 64 0 0.00 26 13 33.33 ADAR 0 genome.wustl.edu 37 1 154560661 154560661 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 154560661 154560661 G T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.3088 p.R1030S 0.600 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 48 0 0.00 58 4 6.45 ADAR 0 genome.wustl.edu 37 1 154560661 154560661 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 154560661 154560661 G T SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.3088 p.R1030S 0.600 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 65 0 0.00 58 4 6.45 ADORA2A 0 genome.wustl.edu 37 22 24836880 24836880 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 24836880 24836880 C A SNP ADORA2A ENST00000337539 human ensembl 74_37 +1 known missense c.662 p.A221E 0.350 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt - no_errors ADORA2A HGNC ENSG00000128271 tier1 - - 22 0 0.00 19 4 17.39 AGAP5 0 genome.wustl.edu 37 10 75435611 75435611 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 75435611 75435611 C T SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known silent c.807 p.P269 1.000 NULL 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 AGAP5 HGNC ENSG00000172650 tier1 - - 187 0 0.00 209 143 40.62 ALG13 0 genome.wustl.edu 37 X 110928199 110928199 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 110928199 110928199 G T SNP ALG13 ENST00000371979 human ensembl 74_37 +1 known missense c.251 p.G84V 1.000 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 46 0 0.00 74 4 5.13 ALG13 0 genome.wustl.edu 37 X 110928199 110928199 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 110928199 110928199 G T SNP ALG13 ENST00000371979 human ensembl 74_37 +1 known missense c.251 p.G84V 1.000 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 tier1 - - 72 0 0.00 74 4 5.13 AMBRA1 0 genome.wustl.edu 37 11 46515719 46515719 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 46515719 46515719 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.2375 p.R792H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 41 0 0.00 39 12 23.53 AMBRA1 0 genome.wustl.edu 37 11 46515719 46515719 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 46515719 46515719 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.2375 p.R792H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 56 0 0.00 39 12 23.53 AMOT 0 genome.wustl.edu 37 X 112048235 112048235 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 112048235 112048235 G T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.1716 p.I572 0.809 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 tier1 - - 53 0 0.00 43 18 29.51 AMOT 0 genome.wustl.edu 37 X 112048235 112048235 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 112048235 112048235 G T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.1716 p.I572 0.809 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 tier1 - - 83 0 0.00 43 18 29.51 ANKRD23 0 genome.wustl.edu 37 2 97507832 97507833 + Frame_Shift_Del DEL TG TG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 97507832 97507833 TG - DEL ANKRD23 ENST00000318357 human ensembl 74_37 -1 known frame_shift_del c.265_264 p.H88fs 0.830:0.775 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD23 HGNC ENSG00000163126 tier1 61 0 0.00 81 23 22.12 ANKRD23 0 genome.wustl.edu 37 2 97507832 97507833 + Frame_Shift_Del DEL TG TG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 97507832 97507833 TG - DEL ANKRD23 ENST00000318357 human ensembl 74_37 -1 known frame_shift_del c.265_264 p.H88fs 0.830:0.775 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD23 HGNC ENSG00000163126 tier1 78 0 0.00 81 23 22.12 ANKRD30B 0 genome.wustl.edu 37 18 14851558 14851558 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 18 14851558 14851558 G T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3258 p.M1086I 0.930 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 45 0 0.00 63 4 5.88 ANKRD30B 0 genome.wustl.edu 37 18 14851558 14851558 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 18 14851558 14851558 G T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.3258 p.M1086I 0.930 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 47 0 0.00 63 4 5.88 ANKRD36BP2 0 genome.wustl.edu 37 2 89102628 89102629 + RNA DEL TG TG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 89102628 89102629 TG 0 DEL ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 20 0 0.00 59 14 19.18 ANKRD53 0 genome.wustl.edu 37 2 71211838 71211838 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 71211838 71211838 G A SNP ANKRD53 ENST00000360589 human ensembl 74_37 +1 putative missense c.1001 p.R334Q 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD53 HGNC ENSG00000144031 tier1 - - 61 0 0.00 73 17 18.89 ANKRD53 0 genome.wustl.edu 37 2 71211838 71211838 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 71211838 71211838 G A SNP ANKRD53 ENST00000360589 human ensembl 74_37 +1 putative missense c.1001 p.R334Q 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD53 HGNC ENSG00000144031 tier1 - - 74 0 0.00 73 17 18.89 ANO7 0 genome.wustl.edu 37 2 242149770 242149770 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 242149770 242149770 G T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.1582 p.V528L 0.724 pfam_Anoctamin pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 tier1 - - 28 0 0.00 16 17 51.52 ARGFX 0 genome.wustl.edu 37 3 121305141 121305141 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 121305141 121305141 G T SNP ARGFX ENST00000334384 human ensembl 74_37 +1 known silent c.642 p.V214 0.164 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ARGFX HGNC ENSG00000186103 tier1 - - 63 0 0.00 59 4 6.35 ARHGAP19 0 genome.wustl.edu 37 10 98985868 98985868 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 98985868 98985868 C T SNP ARHGAP19 ENST00000487035 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors ARHGAP19 HGNC ENSG00000213390 tier1 - - 23 0 0.00 34 13 27.66 ARHGAP19 0 genome.wustl.edu 37 10 98985868 98985868 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 98985868 98985868 C T SNP ARHGAP19 ENST00000487035 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors ARHGAP19 HGNC ENSG00000213390 tier1 - - 25 0 0.00 34 13 27.66 ARHGEF2 0 genome.wustl.edu 37 1 155936636 155936636 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 155936636 155936636 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.254 p.A85V 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 tier1 - - 15 0 0.00 26 9 25.71 ARHGEF2 0 genome.wustl.edu 37 1 155936636 155936636 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 155936636 155936636 G A SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.254 p.A85V 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 tier1 - - 30 0 0.00 26 9 25.71 ARMS2 0 genome.wustl.edu 37 10 124214282 124214282 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 124214282 124214282 G T SNP ARMS2 ENST00000528446 human ensembl 74_37 +1 known silent c.39 p.A13 0.000 NULL NULL - no_errors ARMS2 HGNC ENSG00000254636 tier1 - - 44 0 0.00 64 4 5.88 ASPM 0 genome.wustl.edu 37 1 197093437 197093437 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 197093437 197093437 G T SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3193 p.Q1065K 0.943 superfamily_CH-domain,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 25 0 0.00 32 4 11.11 ATP2C2 0 genome.wustl.edu 37 16 84485637 84485637 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 84485637 84485637 G T SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known nonsense c.1771 p.E591* 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 tier1 - - 40 0 0.00 51 4 7.27 ATP2C2 0 genome.wustl.edu 37 16 84485637 84485637 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 84485637 84485637 G T SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known nonsense c.1771 p.E591* 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 tier1 - - 46 0 0.00 51 4 7.27 ATP8A2 0 genome.wustl.edu 37 13 26411318 26411318 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 26411318 26411318 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known silent c.2772 p.P924 0.006 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 54 0 0.00 66 4 5.71 BCL9 0 genome.wustl.edu 37 1 147084715 147084715 + Silent SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 147084715 147084715 T C SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known silent c.87 p.R29 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 51 0 0.00 68 4 5.56 BMPER 0 genome.wustl.edu 37 7 34014313 34014313 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 34014313 34014313 G T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known splice_site c.494-1 e6-1 1.000 - - - no_errors BMPER HGNC ENSG00000164619 tier1 - - 44 0 0.00 50 29 36.71 BMPER 0 genome.wustl.edu 37 7 34014313 34014313 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 34014313 34014313 G T SNP BMPER ENST00000297161 human ensembl 74_37 +1 known splice_site c.494-1 e6-1 1.000 - - - no_errors BMPER HGNC ENSG00000164619 tier1 - - 74 0 0.00 50 29 36.71 C11orf16 0 genome.wustl.edu 37 11 8947409 8947409 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 8947409 8947409 G T SNP C11orf16 ENST00000326053 human ensembl 74_37 -1 known missense c.805 p.H269N 0.001 NULL NULL - no_errors C11orf16 HGNC ENSG00000176029 35 0 0.00 62 4 5.97 C12orf73 0 genome.wustl.edu 37 12 104345185 104345185 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 104345185 104345185 G T SNP C12orf73 ENST00000543740 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C12orf73 HGNC ENSG00000204954 tier1 - - 22 0 0.00 25 4 13.79 C1orf61 0 genome.wustl.edu 37 1 156377214 156377214 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 156377214 156377214 C A SNP C1orf61 ENST00000488498 human ensembl 74_37 -1 known rna NULL NULL 0.060 - - - no_errors C1orf61 HGNC ENSG00000125462 tier1 - - 28 0 0.00 22 13 37.14 C1orf61 0 genome.wustl.edu 37 1 156377214 156377214 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 156377214 156377214 C A SNP C1orf61 ENST00000488498 human ensembl 74_37 -1 known rna NULL NULL 0.060 - - - no_errors C1orf61 HGNC ENSG00000125462 tier1 - - 38 0 0.00 22 13 37.14 C8A 0 genome.wustl.edu 37 1 57373691 57373691 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 57373691 57373691 G T SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.1285 p.G429C 0.010 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 38 0 0.00 62 4 6.06 CACNA1C 0 genome.wustl.edu 37 12 2717687 2717687 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 2717687 2717687 C A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.3367 p.R1123S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 23 0 0.00 32 2 5.88 CACNA1D 0 genome.wustl.edu 37 3 53808636 53808636 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 53808636 53808636 G T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.4193 p.R1398I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 43 0 0.00 34 2 5.56 CASP5 0 genome.wustl.edu 37 11 104872776 104872776 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 104872776 104872776 G A SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known silent c.735 p.D245 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 - - 41 0 0.00 35 10 22.22 CASP5 0 genome.wustl.edu 37 11 104872776 104872776 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 104872776 104872776 G A SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known silent c.735 p.D245 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 tier1 - - 66 0 0.00 35 10 22.22 CASP8 0 genome.wustl.edu 37 2 202137430 202137431 + Frame_Shift_Del DEL AA AA - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 202137430 202137431 AA - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.658_659 p.R221fs 0.994:0.984 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 48 0 0.00 35 27 43.55 CASP8 0 genome.wustl.edu 37 2 202137430 202137431 + Frame_Shift_Del DEL AA AA - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 202137430 202137431 AA - DEL CASP8 ENST00000358485 human ensembl 74_37 +1 known frame_shift_del c.658_659 p.R221fs 0.994:0.984 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 tier1 61 0 0.00 35 27 43.55 CCDC170 0 genome.wustl.edu 37 6 151859407 151859407 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 151859407 151859407 G T SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.414 p.K138N 1.000 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 39 0 0.00 53 4 7.02 CCDC85A 0 genome.wustl.edu 37 2 56420423 56420423 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 56420423 56420423 A T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1088 p.K363I 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 27 0 0.00 43 11 20.37 CCDC85A 0 genome.wustl.edu 37 2 56420423 56420423 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 56420423 56420423 A T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1088 p.K363I 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 46 0 0.00 43 11 20.37 CCP110 0 genome.wustl.edu 37 16 19547487 19547487 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 19547487 19547487 G T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known nonsense c.496 p.E166* 0.504 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 - - 74 0 0.00 66 4 5.71 CCP110 0 genome.wustl.edu 37 16 19547487 19547487 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 19547487 19547487 G T SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known nonsense c.496 p.E166* 0.504 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 tier1 - - 79 0 0.00 66 4 5.71 CD109 0 genome.wustl.edu 37 6 74497121 74497121 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 74497121 74497121 C T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.2502 p.V834 0.997 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 rs143756315 - 36 0 0.00 47 16 25.40 CD109 0 genome.wustl.edu 37 6 74497121 74497121 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 74497121 74497121 C T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.2502 p.V834 0.997 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 rs143756315 - 58 0 0.00 47 16 25.40 CDH18 0 genome.wustl.edu 37 5 19747230 19747230 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 19747230 19747230 C A SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.344 p.S115I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 tier1 - - 26 0 0.00 29 12 29.27 CDH23 0 genome.wustl.edu 37 10 73553088 73553088 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 73553088 73553088 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.6418 p.E2140K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 39 0 0.00 25 4 13.79 CDH23 0 genome.wustl.edu 37 10 73553088 73553088 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 73553088 73553088 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.6418 p.E2140K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 42 0 0.00 25 4 13.79 CDH3 0 genome.wustl.edu 37 16 68712181 68712181 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 68712181 68712181 G T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known splice_site c.390+1 e4+1 1.000 - - - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 29 0 0.00 43 4 8.33 CDH3 0 genome.wustl.edu 37 16 68712181 68712181 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 68712181 68712181 G T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known splice_site c.390+1 e4+1 1.000 - - - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 46 0 0.00 43 4 8.33 CDH5 0 genome.wustl.edu 37 16 66426285 66426285 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 66426285 66426285 G T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known nonsense c.1216 p.G406* 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 ENSG00000179776 27 0 0.00 55 3 5.17 CDH7 0 genome.wustl.edu 37 18 63511205 63511205 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 18 63511205 63511205 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1139 p.P380L 0.325 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 90 0 0.00 80 24 23.08 CDH7 0 genome.wustl.edu 37 18 63511205 63511205 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 18 63511205 63511205 C T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1139 p.P380L 0.325 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 tier1 - - 93 0 0.00 80 24 23.08 CDK13 0 genome.wustl.edu 37 7 40102486 40102486 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 40102486 40102486 G A SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.2662 p.E888K 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 56 0 0.00 63 4 5.97 CHCHD4 0 genome.wustl.edu 37 3 14163429 14163429 + Nonsense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 14163429 14163429 C A SNP CHCHD4 ENST00000295767 human ensembl 74_37 -1 known nonsense c.49 p.G17* 0.043 NULL pfam_CHCH - no_errors CHCHD4 HGNC ENSG00000163528 tier1 - - 29 0 0.00 42 4 8.70 CHD8 0 genome.wustl.edu 37 14 21894322 21894322 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 21894322 21894322 G T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1681 p.Q561K 0.990 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 23 0 0.00 21 2 8.70 CHEK2 0 genome.wustl.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 29091840 29091840 T C SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1246 p.K416E 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 51 0 0.00 67 5 6.94 CLASP2 0 genome.wustl.edu 37 3 33618714 33618714 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 33618714 33618714 G T SNP CLASP2 ENST00000480013 human ensembl 74_37 -1 known missense c.1691 p.P564H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 65 0 0.00 88 6 6.38 CLASP2 0 genome.wustl.edu 37 3 33618714 33618714 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 33618714 33618714 G T SNP CLASP2 ENST00000480013 human ensembl 74_37 -1 known missense c.1691 p.P564H 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors CLASP2 HGNC ENSG00000163539 tier1 - - 90 0 0.00 88 6 6.38 CLASP2 0 genome.wustl.edu 37 3 33648229 33648229 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 33648229 33648229 G T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.1548 p.N516K 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 20 0 0.00 38 4 9.52 CLMN 0 genome.wustl.edu 37 14 95662883 95662883 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 95662883 95662883 G T SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.2660 p.S887Y 0.996 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 58 0 0.00 75 4 5.06 COL12A1 0 genome.wustl.edu 37 6 75860877 75860877 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 75860877 75860877 C G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4127 p.C1376S 1.000 smart_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 64 0 0.00 52 19 26.76 COL12A1 0 genome.wustl.edu 37 6 75860877 75860877 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 75860877 75860877 C G SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4127 p.C1376S 1.000 smart_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 88 0 0.00 52 19 26.76 COL6A5 0 genome.wustl.edu 37 3 130107894 130107894 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 130107894 130107894 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.2333 p.S778N 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 17 0 0.00 33 3 8.33 COLGALT2 0 genome.wustl.edu 37 1 183920226 183920226 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 183920226 183920226 G A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1051 p.R351C 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 26 0 0.00 20 6 23.08 COLGALT2 0 genome.wustl.edu 37 1 183920226 183920226 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 183920226 183920226 G A SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1051 p.R351C 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 41 0 0.00 20 6 23.08 CPA5 0 genome.wustl.edu 37 7 129986353 129986353 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 129986353 129986353 G A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known silent c.27 p.T9 0.000 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 tier1 - - 16 0 0.00 23 12 34.29 CPA5 0 genome.wustl.edu 37 7 129986353 129986353 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 129986353 129986353 G A SNP CPA5 ENST00000355388 human ensembl 74_37 +1 known silent c.27 p.T9 0.000 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA5 HGNC ENSG00000158525 tier1 - - 32 0 0.00 23 12 34.29 CRK 0 genome.wustl.edu 37 17 1340045 1340045 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 1340045 1340045 G T SNP CRK ENST00000300574 human ensembl 74_37 -1 known missense c.646 p.P216T 1.000 superfamily_SH3_domain pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRK HGNC ENSG00000167193 33 0 0.00 42 3 6.67 CSMD2 0 genome.wustl.edu 37 1 34123643 34123643 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 34123643 34123643 C G SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.4350 p.Q1450H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 10 0 0.00 27 3 10.00 CYB5R1 0 genome.wustl.edu 37 1 202932829 202932829 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 202932829 202932829 G A SNP CYB5R1 ENST00000367249 human ensembl 74_37 -1 known missense c.586 p.R196W 1.000 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 tier1 - - 56 0 0.00 69 31 31.00 CYB5R1 0 genome.wustl.edu 37 1 202932829 202932829 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 202932829 202932829 G A SNP CYB5R1 ENST00000367249 human ensembl 74_37 -1 known missense c.586 p.R196W 1.000 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase - no_errors CYB5R1 HGNC ENSG00000159348 tier1 - - 95 0 0.00 69 31 31.00 CYP2G1P 0 genome.wustl.edu 37 19 41397873 41397873 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 41397873 41397873 C A SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CYP2G1P HGNC ENSG00000130612 tier1 - - 14 0 0.00 13 6 31.58 CYP2G1P 0 genome.wustl.edu 37 19 41397874 41397874 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 41397874 41397874 T C SNP CYP2G1P ENST00000252909 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CYP2G1P HGNC ENSG00000130612 tier1 - - 15 0 0.00 13 6 31.58 DCAF7 0 genome.wustl.edu 37 17 61670951 61670951 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 61670951 61670951 T C SNP DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.213 - - - no_errors DCAF7 HGNC ENSG00000136485 tier1 - - 10 0 0.00 22 5 18.52 DCAF7 0 genome.wustl.edu 37 17 61670951 61670951 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 61670951 61670951 T C SNP DCAF7 ENST00000577702 human ensembl 74_37 +1 known rna NULL NULL 0.213 - - - no_errors DCAF7 HGNC ENSG00000136485 tier1 - - 12 0 0.00 22 5 18.52 DCHS1 0 genome.wustl.edu 37 11 6648765 6648765 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 6648765 6648765 G T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.5505 p.L1835 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 17 0 0.00 9 3 25.00 DCHS1 0 genome.wustl.edu 37 11 6648765 6648765 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 6648765 6648765 G T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.5505 p.L1835 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 20 0 0.00 9 3 25.00 DGAT1 0 genome.wustl.edu 37 8 145540826 145540827 + RNA DEL CA CA - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 8 145540826 145540827 CA - DEL DGAT1 ENST00000527438 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.001 - - - no_errors DGAT1 HGNC ENSG00000185000 tier1 36 0 0.00 37 3 7.50 DISP1 0 genome.wustl.edu 37 1 223116506 223116506 + Nonsense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 223116506 223116506 C A SNP DISP1 ENST00000360254 human ensembl 74_37 +1 putative nonsense c.341 p.S114* 0.998 NULL NULL - no_errors DISP1 HGNC ENSG00000154309 8 0 0.00 37 2 5.13 DNAH12 0 genome.wustl.edu 37 3 57327764 57327764 + RNA DEL T T - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 57327764 57327764 T - DEL DNAH12 ENST00000462713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAH12 HGNC ENSG00000174844 tier1 11 0 0.00 24 3 11.11 DNAH5 0 genome.wustl.edu 37 5 13809266 13809266 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 13809266 13809266 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7639 p.Q2547K 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 53 0 0.00 61 4 6.15 DNAH5 0 genome.wustl.edu 37 5 13809266 13809266 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 13809266 13809266 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.7639 p.Q2547K 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 57 0 0.00 61 4 6.15 DNAH9 0 genome.wustl.edu 37 17 11711078 11711078 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 11711078 11711078 C A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8450 p.P2817Q 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 25 0 0.00 28 4 12.50 DNAH9 0 genome.wustl.edu 37 17 11711078 11711078 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 11711078 11711078 C A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.8450 p.P2817Q 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 - - 36 0 0.00 28 4 12.50 DNAJB7 0 genome.wustl.edu 37 22 41257207 41257207 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 41257207 41257207 G T SNP DNAJB7 ENST00000307221 human ensembl 74_37 -1 known missense c.792 p.D264E 0.009 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB7 HGNC ENSG00000172404 tier1 - - 52 0 0.00 62 4 6.06 DNM1P47 0 genome.wustl.edu 37 15 102299973 102299973 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 102299973 102299973 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 53 0 0.00 94 11 10.48 DYNLT3 0 genome.wustl.edu 37 X 37706325 37706325 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 37706325 37706325 C T SNP DYNLT3 ENST00000432389 human ensembl 74_37 -1 known missense c.19 p.V7I 0.000 NULL pfam_Tctex - no_errors DYNLT3 HGNC ENSG00000165169 tier1 - - 43 0 0.00 65 23 26.14 DYNLT3 0 genome.wustl.edu 37 X 37706325 37706325 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 37706325 37706325 C T SNP DYNLT3 ENST00000432389 human ensembl 74_37 -1 known missense c.19 p.V7I 0.000 NULL pfam_Tctex - no_errors DYNLT3 HGNC ENSG00000165169 tier1 - - 80 0 0.00 65 23 26.14 DYRK3 0 genome.wustl.edu 37 1 206821626 206821626 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 206821626 206821626 C A SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.1083 p.F361L 0.482 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK3 HGNC ENSG00000143479 19 0 0.00 31 2 6.06 EBF1 0 genome.wustl.edu 37 5 158125829 158125830 + RNA INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 158125829 158125830 - A INS EBF1 ENST00000518323 human ensembl 74_37 -1 known rna NULL NULL 0.815:0.002 - - - no_errors EBF1 HGNC ENSG00000164330 tier1 26 0 0.00 46 5 9.80 EDC4 0 genome.wustl.edu 37 16 67912946 67912946 + Silent SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 67912946 67912946 T C SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.1374 p.P458 0.708 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 19 0 0.00 15 2 11.76 EDEM1 0 genome.wustl.edu 37 3 5241344 5241344 + Missense_Mutation SNP A A C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 5241344 5241344 A C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.650 p.K217T 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 67 0 0.00 67 35 34.31 EDEM1 0 genome.wustl.edu 37 3 5241344 5241344 + Missense_Mutation SNP A A C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 5241344 5241344 A C SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.650 p.K217T 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 89 0 0.00 67 35 34.31 EMC10 0 genome.wustl.edu 37 19 50985132 50985132 + Frame_Shift_Del DEL G G - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 50985132 50985132 G - DEL EMC10 ENST00000376918 human ensembl 74_37 +1 known frame_shift_del c.693 p.A234fs 1.000 NULL NULL - no_errors EMC10 HGNC ENSG00000161671 tier1 33 0 0.00 29 2 6.45 ENSG00000221130 0 genome.wustl.edu 37 11 88845972 88845972 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 88845972 88845972 T C SNP ENSG00000221130 ENST00000408203 human ensembl 74_37 +1 novel rna NULL NULL 0.081 - - - no_errors AP001482.1 Clone_based_ensembl_gene ENSG00000221130 tier1 - - 39 0 0.00 59 5 7.81 ENSG00000226200 0 genome.wustl.edu 37 10 52389979 52389979 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 52389979 52389979 C A SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 - - 42 0 0.00 68 4 5.56 ENSG00000226200 0 genome.wustl.edu 37 10 52389979 52389979 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 52389979 52389979 C A SNP ENSG00000226200 ENST00000443374 human ensembl 74_37 +1 known rna NULL NULL 0.184 - - - no_errors RP11-50E11.3 Clone_based_vega_gene ENSG00000226200 tier1 - - 60 0 0.00 68 4 5.56 ENSG00000228925 0 genome.wustl.edu 37 2 47134824 47134824 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 47134824 47134824 T C SNP ENSG00000228925 ENST00000429761 human ensembl 74_37 +1 known rna NULL NULL 0.211 - - - no_errors AC016722.4 Clone_based_vega_gene ENSG00000228925 tier1 - - 14 0 0.00 30 6 16.67 ENSG00000228925 0 genome.wustl.edu 37 2 47134824 47134824 + RNA SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 47134824 47134824 T C SNP ENSG00000228925 ENST00000429761 human ensembl 74_37 +1 known rna NULL NULL 0.211 - - - no_errors AC016722.4 Clone_based_vega_gene ENSG00000228925 tier1 - - 28 0 0.00 30 6 16.67 ENSG00000232274 0 genome.wustl.edu 37 1 143210585 143210585 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 143210585 143210585 G A SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202055740 - 24 0 0.00 43 10 18.87 ENSG00000232274 0 genome.wustl.edu 37 1 143210585 143210585 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 143210585 143210585 G A SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202055740 - 35 0 0.00 43 10 18.87 ENSG00000236233 0 genome.wustl.edu 37 9 67793687 67793688 + RNA INS - - CACA TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 67793687 67793688 - CACA INS ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.071:0.072 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 9 0 0.00 5 3 37.50 ENSG00000237452 0 genome.wustl.edu 37 19 46260508 46260508 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 46260508 46260508 G T SNP ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative missense c.985 p.A329S 0.337 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 - - 35 0 0.00 20 3 13.04 ENSG00000237452 0 genome.wustl.edu 37 19 46262720 46262720 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 46262720 46262720 C A SNP ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative missense c.1217 p.A406D 0.021 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 - - 38 0 0.00 32 17 34.00 ENSG00000237452 0 genome.wustl.edu 37 19 46262720 46262720 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 46262720 46262720 C A SNP ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative missense c.1217 p.A406D 0.021 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 - - 46 0 0.00 32 17 34.00 ENSG00000237480 0 genome.wustl.edu 37 1 106623839 106623839 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 106623839 106623839 G A SNP ENSG00000237480 ENST00000429608 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors RP5-947P14.1 Clone_based_vega_gene ENSG00000237480 tier1 - - 38 0 0.00 56 8 12.50 ENSG00000237480 0 genome.wustl.edu 37 1 106623839 106623839 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 106623839 106623839 G A SNP ENSG00000237480 ENST00000429608 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors RP5-947P14.1 Clone_based_vega_gene ENSG00000237480 tier1 - - 53 0 0.00 56 8 12.50 ENSG00000260121 0 genome.wustl.edu 37 16 88785881 88785881 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 88785881 88785881 G T SNP ENSG00000260121 ENST00000564984 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-1142A6.9 Clone_based_vega_gene ENSG00000260121 tier1 - - 27 0 0.00 31 4 11.43 ENSG00000260121 0 genome.wustl.edu 37 16 88785881 88785881 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 88785881 88785881 G T SNP ENSG00000260121 ENST00000564984 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP5-1142A6.9 Clone_based_vega_gene ENSG00000260121 tier1 - - 32 0 0.00 31 4 11.43 ENSG00000260803 0 genome.wustl.edu 37 16 81862 81862 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 81862 81862 C T SNP ENSG00000260803 ENST00000568710 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors Z84812.4 Clone_based_vega_gene ENSG00000260803 tier1 - - 164 0 0.00 78 32 29.09 ENSG00000260803 0 genome.wustl.edu 37 16 81862 81862 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 81862 81862 C T SNP ENSG00000260803 ENST00000568710 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors Z84812.4 Clone_based_vega_gene ENSG00000260803 tier1 - - 82 0 0.00 78 32 29.09 ENSG00000271880 0 genome.wustl.edu 37 10 88743656 88743656 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 88743656 88743656 G T SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 tier1 - - 20 0 0.00 30 7 18.42 ENSG00000271880 0 genome.wustl.edu 37 10 88743656 88743656 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 88743656 88743656 G T SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 tier1 - - 21 0 0.00 30 7 18.42 EPN1 0 genome.wustl.edu 37 19 56200681 56200681 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56200681 56200681 G A SNP EPN1 ENST00000270460 human ensembl 74_37 +1 known missense c.622 p.E208K 0.994 pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 33 0 0.00 53 4 7.02 EPN1 0 genome.wustl.edu 37 19 56200681 56200681 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56200681 56200681 G A SNP EPN1 ENST00000270460 human ensembl 74_37 +1 known missense c.622 p.E208K 0.994 pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 tier1 - - 70 0 0.00 53 4 7.02 ERC2 0 genome.wustl.edu 37 3 56183042 56183042 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 56183042 56183042 T C SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1268 p.E423G 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 42 0 0.00 64 4 5.88 ERCC6L2 0 genome.wustl.edu 37 9 98735292 98735292 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 98735292 98735292 C A SNP ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known missense c.202 p.P68T 0.628 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 47 0 0.00 79 6 7.06 ERCC6L2 0 genome.wustl.edu 37 9 98735292 98735292 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 98735292 98735292 C A SNP ERCC6L2 ENST00000407474 human ensembl 74_37 +1 known missense c.202 p.P68T 0.628 NULL NULL - no_errors ERCC6L2 HGNC ENSG00000182150 tier1 - - 55 0 0.00 79 6 7.06 EVL 0 genome.wustl.edu 37 14 100603921 100603921 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 100603921 100603921 G T SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.971 p.G324V 0.998 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 47 0 0.00 42 18 30.00 EVL 0 genome.wustl.edu 37 14 100603921 100603921 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 100603921 100603921 G T SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.971 p.G324V 0.998 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 tier1 - - 82 0 0.00 42 18 30.00 EVX1 0 genome.wustl.edu 37 7 27284773 27284773 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 27284773 27284773 C T SNP EVX1 ENST00000222761 human ensembl 74_37 +1 putative missense c.479 p.A160V 0.999 NULL NULL - no_errors EVX1 HGNC ENSG00000106038 tier1 - - 43 0 0.00 36 20 35.71 F13B 0 genome.wustl.edu 37 1 197026309 197026309 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 197026309 197026309 G T SNP F13B ENST00000367412 human ensembl 74_37 -1 known silent c.1005 p.A335 0.018 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 18 0 0.00 37 3 7.50 FAM155A 0 genome.wustl.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 108518661 108518661 T C SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.284 p.Q95R 0.996 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 27 0 0.00 28 2 6.67 FAM182B 0 genome.wustl.edu 37 20 25848629 25848629 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 25848629 25848629 C T SNP FAM182B ENST00000424021 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 49 0 0.00 74 10 11.90 FAM19A2 0 genome.wustl.edu 37 12 62147482 62147485 + Frame_Shift_Del DEL AGAC AGAC - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 AGAC AGAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 62147482 62147485 AGAC - DEL FAM19A2 ENST00000416284 human ensembl 74_37 -1 known frame_shift_del c.305_302 p.C101fs 1.000:1.000:1.000:1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 tier1 56 0 0.00 42 13 23.64 FAM228B 0 genome.wustl.edu 37 2 24392364 24392365 + RNA INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 24392364 24392365 - A INS FAM228B ENST00000468799 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM228B HGNC ENSG00000219626 tier1 10 0 0.00 18 2 10.00 FAM228B 0 genome.wustl.edu 37 2 24392364 24392365 + RNA INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 24392364 24392365 - A INS FAM228B ENST00000468799 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAM228B HGNC ENSG00000219626 tier1 12 0 0.00 18 2 10.00 FAM65C 0 genome.wustl.edu 37 20 49218951 49218951 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 49218951 49218951 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.1317 p.H439 0.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 44 0 0.00 54 17 23.94 FAM65C 0 genome.wustl.edu 37 20 49218951 49218951 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 49218951 49218951 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.1317 p.H439 0.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 63 0 0.00 54 17 23.94 FAM71E2 0 genome.wustl.edu 37 19 55870036 55870036 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 55870036 55870036 T C SNP FAM71E2 ENST00000424985 human ensembl 74_37 -1 novel missense c.2200 p.M734V 0.000 NULL pfam_DUF3699 - no_errors FAM71E2 HGNC ENSG00000180043 tier1 - - 33 0 0.00 48 15 23.81 FGF12 0 genome.wustl.edu 37 3 192125875 192125875 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 192125875 192125875 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known silent c.138 p.L46 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 tier1 - - 57 0 0.00 86 19 18.10 FGF12 0 genome.wustl.edu 37 3 192125875 192125875 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 192125875 192125875 G A SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known silent c.138 p.L46 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 tier1 - - 60 0 0.00 86 19 18.10 FMNL3 0 genome.wustl.edu 37 12 50044560 50044560 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 50044560 50044560 G T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.1899 p.A633 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 25 0 0.00 39 4 9.30 FNDC3A 0 genome.wustl.edu 37 13 49765251 49765251 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 49765251 49765251 G T SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.2045 p.R682L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 tier1 - - 46 0 0.00 27 3 10.00 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 52 0 0.00 61 4 6.15 FUK 0 genome.wustl.edu 37 16 70504248 70504248 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 70504248 70504248 G T SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.1083 p.M361I 1.000 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 19 0 0.00 28 2 6.67 G6PC3 0 genome.wustl.edu 37 17 42153360 42153360 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 42153360 42153360 G T SNP G6PC3 ENST00000269097 human ensembl 74_37 +1 known missense c.990 p.W330C 0.926 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 tier1 - - 33 0 0.00 47 5 9.62 G6PC3 0 genome.wustl.edu 37 17 42153360 42153360 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 42153360 42153360 G T SNP G6PC3 ENST00000269097 human ensembl 74_37 +1 known missense c.990 p.W330C 0.926 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 tier1 - - 35 0 0.00 47 5 9.62 GABRG3 0 genome.wustl.edu 37 15 27572012 27572012 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 27572012 27572012 C A SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known missense c.327 p.F109L 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 27 0 0.00 57 3 5.00 GART 0 genome.wustl.edu 37 21 34877881 34877881 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 21 34877881 34877881 G T SNP GART ENST00000381815 human ensembl 74_37 -1 known silent c.2712 p.V904 0.980 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 21 0 0.00 30 4 11.76 GIGYF1 0 genome.wustl.edu 37 7 100285684 100285684 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100285684 100285684 G T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.85 p.P29T 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 23 0 0.00 38 2 5.00 GIGYF2 0 genome.wustl.edu 37 2 233651859 233651859 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 233651859 233651859 G T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known splice_site c.599-1 e8-1 1.000 - - - no_errors GIGYF2 HGNC ENSG00000204120 34 0 0.00 54 3 5.26 GLI2 0 genome.wustl.edu 37 2 121744178 121744178 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 121744178 121744178 C A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.2281 p.L761I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 tier1 - - 32 0 0.00 45 4 8.16 GLIPR2 0 genome.wustl.edu 37 9 36147790 36147790 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 36147790 36147790 A T SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known missense c.21 p.K7N 1.000 superfamily_CAP_domain pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 tier1 - - 22 0 0.00 26 13 33.33 GLYATL1 0 genome.wustl.edu 37 11 58714634 58714634 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 58714634 58714634 T C SNP GLYATL1 ENST00000317391 human ensembl 74_37 +1 known missense c.74 p.L25P 0.006 pfam_Glycine_N-acyltransferase_N pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 tier1 - - 25 0 0.00 32 14 30.43 GLYATL1 0 genome.wustl.edu 37 11 58714634 58714634 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 58714634 58714634 T C SNP GLYATL1 ENST00000317391 human ensembl 74_37 +1 known missense c.74 p.L25P 0.006 pfam_Glycine_N-acyltransferase_N pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 tier1 - - 43 0 0.00 32 14 30.43 GNAI2 0 genome.wustl.edu 37 3 50296411 50296411 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 50296411 50296411 C A SNP GNAI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GNAI2 HGNC ENSG00000114353 tier1 - - 16 0 0.00 25 10 28.57 GNAI2 0 genome.wustl.edu 37 3 50296411 50296411 + RNA SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 50296411 50296411 C A SNP GNAI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GNAI2 HGNC ENSG00000114353 tier1 - - 25 0 0.00 25 10 28.57 GNAS 0 genome.wustl.edu 37 20 57428501 57428501 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 57428501 57428501 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.181 p.V61I 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 16 0 0.00 27 9 25.00 GNAS 0 genome.wustl.edu 37 20 57428501 57428501 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 57428501 57428501 G A SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.181 p.V61I 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 31 0 0.00 27 9 25.00 GNL3L 0 genome.wustl.edu 37 X 54578109 54578109 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 54578109 54578109 C T SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known silent c.972 p.H324 0.271 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 tier1 - - 52 0 0.00 41 23 35.94 GOLPH3L 0 genome.wustl.edu 37 1 150621108 150621108 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 150621108 150621108 A T SNP GOLPH3L ENST00000271732 human ensembl 74_37 -1 known missense c.547 p.F183I 0.998 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3L HGNC ENSG00000143457 tier1 - - 16 0 0.00 26 8 23.53 GOLPH3L 0 genome.wustl.edu 37 1 150621108 150621108 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 150621108 150621108 A T SNP GOLPH3L ENST00000271732 human ensembl 74_37 -1 known missense c.547 p.F183I 0.998 pfam_GPP34 pfam_GPP34 - no_errors GOLPH3L HGNC ENSG00000143457 tier1 - - 22 0 0.00 26 8 23.53 GPR98 0 genome.wustl.edu 37 5 90106558 90106558 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 90106558 90106558 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.15481 p.L5161I 0.002 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 32 0 0.00 34 8 19.05 GPR98 0 genome.wustl.edu 37 5 90106558 90106558 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 90106558 90106558 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.15481 p.L5161I 0.002 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 35 0 0.00 34 8 19.05 GRIK3 0 genome.wustl.edu 37 1 37271817 37271817 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 37271817 37271817 G T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known nonsense c.2202 p.Y734* 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 32 0 0.00 38 2 5.00 GSN 0 genome.wustl.edu 37 9 124074856 124074857 + RNA INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 124074856 124074857 - A INS GSN ENST00000485767 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.000 - - - no_errors GSN HGNC ENSG00000148180 tier1 13 0 0.00 10 4 28.57 GUCY1A2 0 genome.wustl.edu 37 11 106558335 106558335 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 106558335 106558335 C T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known silent c.2232 p.S744 0.594 superfamily_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 50 0 0.00 51 27 34.62 GUCY1A2 0 genome.wustl.edu 37 11 106558335 106558335 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 106558335 106558335 C T SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known silent c.2232 p.S744 0.594 superfamily_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 - - 74 0 0.00 51 27 34.62 H2AFX 0 genome.wustl.edu 37 11 118965783 118965783 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 118965783 118965783 C A SNP H2AFX ENST00000375167 human ensembl 74_37 -1 known missense c.322 p.V108F 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFX HGNC ENSG00000188486 48 0 0.00 56 3 5.08 HARBI1 0 genome.wustl.edu 37 11 46625423 46625423 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 46625423 46625423 G T SNP HARBI1 ENST00000326737 human ensembl 74_37 -1 known missense c.707 p.T236N 1.000 pfam_Harbinger_derived_prot_plant pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 10 0 0.00 25 4 13.79 HDLBP 0 genome.wustl.edu 37 2 242192401 242192401 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 242192401 242192401 C G SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1343 p.R448T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 - - 37 0 0.00 37 4 9.76 HIST1H1D 0 genome.wustl.edu 37 6 26234794 26234794 + Frame_Shift_Del DEL T T - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 26234794 26234794 T - DEL HIST1H1D ENST00000244534 human ensembl 74_37 -1 known frame_shift_del c.368 p.K123fs 0.994 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 tier1 27 0 0.00 25 3 10.71 HIST1H2AB 0 genome.wustl.edu 37 6 26033431 26033432 + Frame_Shift_Ins INS - - T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 26033431 26033432 - T INS HIST1H2AB ENST00000259791 human ensembl 74_37 -1 known frame_shift_ins c.366_365 p.S123fs 1.000:1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 tier1 34 0 0.00 44 16 26.67 HIST1H2AC 0 genome.wustl.edu 37 6 26124548 26124548 + Nonsense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 26124548 26124548 C T SNP HIST1H2AC ENST00000314088 human ensembl 74_37 +1 known nonsense c.88 p.R30* 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AC HGNC ENSG00000180573 tier1 - - 50 0 0.00 46 14 23.33 HNRNPL 0 genome.wustl.edu 37 19 39330958 39330959 + Frame_Shift_Ins INS - - G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 39330958 39330959 - G INS HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_ins c.1011_1010 p.P338fs 1.000:1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 20 0 0.00 46 17 26.98 HPSE2 0 genome.wustl.edu 37 10 100219489 100219489 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 100219489 100219489 G T SNP HPSE2 ENST00000370552 human ensembl 74_37 -1 known missense c.1621 p.Q541K 1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 17 0 0.00 19 2 9.52 HSPA2 0 genome.wustl.edu 37 14 65008192 65008192 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 65008192 65008192 G T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.625 p.D209Y 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 tier1 - - 49 0 0.00 54 4 6.90 HSPA9 0 genome.wustl.edu 37 5 137895634 137895634 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 137895634 137895634 C T SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.1329 p.L443 0.822 pfam_Hsp_70_fam,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 tier1 - - 56 0 0.00 53 18 25.35 HSPA9 0 genome.wustl.edu 37 5 137895634 137895634 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 137895634 137895634 C T SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.1329 p.L443 0.822 pfam_Hsp_70_fam,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 tier1 - - 85 0 0.00 53 18 25.35 IDS 0 genome.wustl.edu 37 X 148571894 148571894 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 148571894 148571894 G A SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.957 p.D319 0.997 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 tier1 - - 43 0 0.00 55 4 6.78 IDS 0 genome.wustl.edu 37 X 148571894 148571894 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 148571894 148571894 G A SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.957 p.D319 0.997 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 tier1 - - 46 0 0.00 55 4 6.78 IFI16 0 genome.wustl.edu 37 1 158986377 158986377 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 158986377 158986377 G C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.436 p.E146Q 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 39 0 0.00 74 8 9.76 IFI16 0 genome.wustl.edu 37 1 158986377 158986377 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 158986377 158986377 G C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.436 p.E146Q 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 68 0 0.00 74 8 9.76 IL1RAPL1 0 genome.wustl.edu 37 X 29417387 29417387 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 29417387 29417387 G T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.665 p.G222V 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 126 0 0.00 122 35 22.29 IL1RAPL1 0 genome.wustl.edu 37 X 29417387 29417387 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 29417387 29417387 G T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known missense c.665 p.G222V 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 tier1 - - 97 0 0.00 122 35 22.29 IL9 0 genome.wustl.edu 37 5 135228158 135228158 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 135228158 135228158 G T SNP IL9 ENST00000274520 human ensembl 74_37 -1 known silent c.357 p.G119 0.964 pfam_IL-7/IL-9_fam,prints_IL-9 pfam_IL-7/IL-9_fam,prints_IL-9 - no_errors IL9 HGNC ENSG00000145839 67 0 0.00 88 5 5.38 IST1 0 genome.wustl.edu 37 16 71961715 71961715 + Nonstop_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 71961715 71961715 A T SNP IST1 ENST00000535424 human ensembl 74_37 +1 known nonstop c.1139 p.*380L 1.000 NULL pfam_DUF292_euk - no_errors IST1 HGNC ENSG00000182149 tier1 - - 39 0 0.00 37 5 11.90 ITGB3 0 genome.wustl.edu 37 17 45369758 45369758 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 45369758 45369758 G T SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.1514 p.R505L 0.493 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 14 0 0.00 25 3 10.71 JSRP1 0 genome.wustl.edu 37 19 2252589 2252589 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 2252589 2252589 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.735 p.P245 0.000 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 tier1 - - 44 0 0.00 38 17 30.91 JSRP1 0 genome.wustl.edu 37 19 2252589 2252589 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 2252589 2252589 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.735 p.P245 0.000 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 tier1 - - 56 0 0.00 38 17 30.91 JUNB 0 genome.wustl.edu 37 19 12903518 12903518 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 12903518 12903518 G T SNP JUNB ENST00000302754 human ensembl 74_37 +1 known silent c.933 p.S311 0.849 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC ENSG00000171223 40 0 0.00 50 3 5.66 KCNA5 0 genome.wustl.edu 37 12 5154047 5154047 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 5154047 5154047 G C SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.734 p.S245T 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 49 0 0.00 47 17 26.56 KCNA5 0 genome.wustl.edu 37 12 5154047 5154047 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 5154047 5154047 G C SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.734 p.S245T 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 tier1 - - 86 0 0.00 47 17 26.56 KCNQ4 0 genome.wustl.edu 37 1 41285870 41285870 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 41285870 41285870 C A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.979 p.Q327K 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 25 0 0.00 17 6 26.09 KCNQ4 0 genome.wustl.edu 37 1 41285870 41285870 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 41285870 41285870 C A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.979 p.Q327K 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 29 0 0.00 17 6 26.09 KCTD8 0 genome.wustl.edu 37 4 44449989 44449989 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 44449989 44449989 G T SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known silent c.552 p.A184 0.245 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 13 0 0.00 21 13 38.24 KDM2B 0 genome.wustl.edu 37 12 121951122 121951122 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 121951122 121951122 G T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.1131 p.R377 0.996 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 59 0 0.00 73 4 5.19 KIAA1107 0 genome.wustl.edu 37 1 92642741 92642743 + In_Frame_Del DEL CAG CAG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 92642741 92642743 CAG - DEL KIAA1107 ENST00000409154 human ensembl 74_37 +1 known in_frame_del c.842_844 p.A285in_frame_del 0.001:0.000:0.004 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 24 0 0.00 38 6 13.64 KIAA1107 0 genome.wustl.edu 37 1 92642741 92642743 + In_Frame_Del DEL CAG CAG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 92642741 92642743 CAG - DEL KIAA1107 ENST00000409154 human ensembl 74_37 +1 known in_frame_del c.842_844 p.A285in_frame_del 0.001:0.000:0.004 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 tier1 35 0 0.00 38 6 13.64 KIF1B 0 genome.wustl.edu 37 1 10364302 10364302 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 10364302 10364302 G T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.3059 p.W1020L 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 56 0 0.00 51 4 7.27 KIF1B 0 genome.wustl.edu 37 1 10364302 10364302 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 10364302 10364302 G T SNP KIF1B ENST00000377083 human ensembl 74_37 +1 known missense c.3059 p.W1020L 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 tier1 - - 64 0 0.00 51 4 7.27 KIF2B 0 genome.wustl.edu 37 17 51900977 51900977 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 51900977 51900977 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.583 p.R195C 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 28 0 0.00 33 7 17.50 KIF2B 0 genome.wustl.edu 37 17 51900977 51900977 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 51900977 51900977 C T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.583 p.R195C 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 38 0 0.00 33 7 17.50 KIT 0 genome.wustl.edu 37 4 55564477 55564477 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 55564477 55564477 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.365 p.R122H 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 39 0 0.00 49 3 5.77 KLHDC10 0 genome.wustl.edu 37 7 129756388 129756388 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 129756388 129756388 G T SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known silent c.357 p.G119 1.000 pfam_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 tier1 - - 51 0 0.00 48 4 7.69 KLHL1 0 genome.wustl.edu 37 13 70681620 70681620 + Missense_Mutation SNP T T A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 70681620 70681620 T A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.212 p.K71M 0.982 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 35 0 0.00 45 18 28.57 KLHL28 0 genome.wustl.edu 37 14 45400541 45400541 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 45400541 45400541 C A SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.1547 p.R516I 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 36 0 0.00 42 3 6.67 KMT2E 0 genome.wustl.edu 37 7 104717408 104717408 + Splice_Site SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 104717408 104717408 A T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known splice_site c.769-2 e8-2 1.000 - - - no_errors KMT2E HGNC ENSG00000005483 18 0 0.00 27 2 6.90 KREMEN1 0 genome.wustl.edu 37 22 29534726 29534726 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 29534726 29534726 A G SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known missense c.1079 p.Y360C 1.000 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 tier1 - - 73 0 0.00 69 29 29.29 KRT85 0 genome.wustl.edu 37 12 52757081 52757081 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 52757081 52757081 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.900 p.D300 0.833 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 38 0 0.00 35 23 39.66 KRT85 0 genome.wustl.edu 37 12 52757081 52757081 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 52757081 52757081 G A SNP KRT85 ENST00000257901 human ensembl 74_37 -1 known silent c.900 p.D300 0.833 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC ENSG00000135443 tier1 - - 81 0 0.00 35 23 39.66 KRTAP13-2 0 genome.wustl.edu 37 21 31744209 31744209 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 21 31744209 31744209 C T SNP KRTAP13-2 ENST00000399889 human ensembl 74_37 -1 known missense c.323 p.R108H 0.009 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-2 HGNC ENSG00000182816 34 0 0.00 49 3 5.77 LAIR2 0 genome.wustl.edu 37 19 55019195 55019195 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 55019195 55019195 G T SNP LAIR2 ENST00000301202 human ensembl 74_37 +1 known missense c.160 p.G54W 0.000 smart_Ig_sub smart_Ig_sub - no_errors LAIR2 HGNC ENSG00000167618 tier1 - - 29 0 0.00 24 13 35.14 LAMA4 0 genome.wustl.edu 37 6 112462605 112462605 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 112462605 112462605 G T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2768 p.P923H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 27 0 0.00 42 4 8.70 LAMA4 0 genome.wustl.edu 37 6 112462605 112462605 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 112462605 112462605 G T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2768 p.P923H 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 40 0 0.00 42 4 8.70 LAMC1 0 genome.wustl.edu 37 1 183094558 183094558 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 183094558 183094558 A T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2674 p.M892L 0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 40 0 0.00 36 17 32.08 LAMC1 0 genome.wustl.edu 37 1 183094558 183094558 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 183094558 183094558 A T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2674 p.M892L 0.002 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 83 0 0.00 36 17 32.08 LAS1L 0 genome.wustl.edu 37 X 64738220 64738220 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 64738220 64738220 A G SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known missense c.1574 p.I525T 0.000 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 tier1 - - 36 0 0.00 35 10 22.22 LAT 0 genome.wustl.edu 37 16 28997469 28997469 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 28997469 28997469 C A SNP LAT ENST00000395461 human ensembl 74_37 +1 known silent c.285 p.P95 0.000 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 tier1 - - 41 0 0.00 29 4 12.12 LCP2 0 genome.wustl.edu 37 5 169685150 169685150 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 169685150 169685150 G T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.991 p.Q331K 1.000 NULL pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 26 0 0.00 39 3 7.14 LOC100190940 0 genome.wustl.edu 37 12 130521234 130521235 + RNA INS - - AA TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 130521234 130521235 - AA INS LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.046 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 tier1 10 0 0.00 10 4 28.57 LOXL4 0 genome.wustl.edu 37 10 100020863 100020863 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 100020863 100020863 G T SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known silent c.478 p.R160 1.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 tier1 - - 41 0 0.00 36 8 18.18 LRP1B 0 genome.wustl.edu 37 2 142012201 142012201 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 142012201 142012201 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.353 p.S118Y 0.027 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 18 0 0.00 37 2 5.13 LRRIQ1 0 genome.wustl.edu 37 12 85638646 85638646 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 85638646 85638646 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.5096 p.E1699G 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 16 0 0.00 21 3 6.12 LTBP1 0 genome.wustl.edu 37 2 33359997 33359997 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 33359997 33359997 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1171 p.D391N 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 18 0 0.00 29 14 32.56 LTBP1 0 genome.wustl.edu 37 2 33359997 33359997 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 33359997 33359997 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.1171 p.D391N 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 31 0 0.00 29 14 32.56 MAGEB6 0 genome.wustl.edu 37 X 26212570 26212570 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 26212570 26212570 G T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.607 p.A203S 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 37 0 0.00 70 4 5.33 MAGEB6 0 genome.wustl.edu 37 X 26212570 26212570 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 26212570 26212570 G T SNP MAGEB6 ENST00000379034 human ensembl 74_37 +1 known missense c.607 p.A203S 0.000 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB6 HGNC ENSG00000176746 tier1 - - 61 0 0.00 70 4 5.33 MAGI1-IT1 0 genome.wustl.edu 37 3 65940168 65940168 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 65940168 65940168 G A SNP MAGI1-IT1 ENST00000460754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAGI1-IT1 HGNC ENSG00000272610 tier1 - - 61 0 0.00 61 17 21.79 MAGI1-IT1 0 genome.wustl.edu 37 3 65940168 65940168 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 65940168 65940168 G A SNP MAGI1-IT1 ENST00000460754 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MAGI1-IT1 HGNC ENSG00000272610 tier1 - - 67 0 0.00 61 17 21.79 MAML2 0 genome.wustl.edu 37 11 95825422 95825422 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 95825422 95825422 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1773 p.Q591 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 27 0 0.00 30 6 16.67 MAML2 0 genome.wustl.edu 37 11 95825422 95825422 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 95825422 95825422 C T SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known silent c.1773 p.Q591 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 tier1 - - 36 0 0.00 30 6 16.67 MARK1 0 genome.wustl.edu 37 1 220791832 220791832 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 220791832 220791832 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.733 p.V245I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 46 0 0.00 66 21 24.14 MARK1 0 genome.wustl.edu 37 1 220791832 220791832 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 220791832 220791832 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.733 p.V245I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 56 0 0.00 66 21 24.14 MEF2C 0 genome.wustl.edu 37 5 88057050 88057050 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 88057050 88057050 C T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.354 p.R118 1.000 pfam_HJURP_C pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 17 0 0.00 21 11 34.38 MEF2C 0 genome.wustl.edu 37 5 88057050 88057050 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 88057050 88057050 C T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known silent c.354 p.R118 1.000 pfam_HJURP_C pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 tier1 - - 24 0 0.00 21 11 34.38 MFSD11 0 genome.wustl.edu 37 17 74738327 74738327 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 74738327 74738327 G T SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known missense c.409 p.G137W 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 tier1 - - 36 0 0.00 73 4 5.19 MFSD11 0 genome.wustl.edu 37 17 74738327 74738327 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 74738327 74738327 G T SNP MFSD11 ENST00000336509 human ensembl 74_37 +1 known missense c.409 p.G137W 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 tier1 - - 42 0 0.00 73 4 5.19 MGAT4C 0 genome.wustl.edu 37 12 86383258 86383258 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 86383258 86383258 G T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.154 p.R52S 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 47 0 0.00 53 3 5.36 MLH1 0 genome.wustl.edu 37 3 37061853 37061853 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 37061853 37061853 G T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known nonsense c.937 p.E313* 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 46 0 0.00 53 3 5.36 MON2 0 genome.wustl.edu 37 12 62949801 62949801 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 62949801 62949801 C A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known silent c.3241 p.R1081 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 44 0 0.00 32 2 5.88 MT-ND5 0 genome.wustl.edu 37 MT 13352 13352 + Missense_Mutation SNP T T A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 MT 13352 13352 T A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1016 p.L339Q NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 10 0 0.00 1 3 75.00 MT-ND5 0 genome.wustl.edu 37 MT 13352 13352 + Missense_Mutation SNP T T A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 MT 13352 13352 T A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1016 p.L339Q NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 23 0 0.00 1 3 75.00 MT-RNR1 0 genome.wustl.edu 37 MT 1309 1309 + RNA SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 MT 1309 1309 A G SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 11 0 0.00 4 5 55.56 MUC17 0 genome.wustl.edu 37 7 100683921 100683921 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100683921 100683921 G C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9224 p.S3075T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 142 0 0.00 89 12 11.88 MUC17 0 genome.wustl.edu 37 7 100683921 100683921 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100683921 100683921 G C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9224 p.S3075T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 75 0 0.00 89 12 11.88 MUC17 0 genome.wustl.edu 37 7 100683929 100683929 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100683929 100683929 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9232 p.V3078I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 78 0 0.00 84 6 6.67 MUC17 0 genome.wustl.edu 37 7 100683930 100683930 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100683930 100683930 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9233 p.V3078A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 78 0 0.00 84 6 6.67 MUC17 0 genome.wustl.edu 37 7 100684396 100684396 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100684396 100684396 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.9699 p.P3233 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 57 0 0.00 85 6 6.59 MUC17 0 genome.wustl.edu 37 7 100684404 100684404 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100684404 100684404 G T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9707 p.S3236I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 58 0 0.00 84 6 6.67 MUC17 0 genome.wustl.edu 37 7 100684406 100684406 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100684406 100684406 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9709 p.S3237P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 60 0 0.00 80 7 8.05 MUC17 0 genome.wustl.edu 37 7 100684419 100684419 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 100684419 100684419 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9722 p.I3241T 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 69 0 0.00 77 10 11.49 MUC5B 0 genome.wustl.edu 37 11 1256532 1256532 + Splice_Site SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 1256532 1256532 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known splice_site c.2779-1 e23-1 1.000 - - - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 58 0 0.00 72 4 5.26 MUC5B 0 genome.wustl.edu 37 11 1265962 1265962 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 1265962 1265962 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7861 p.A2621S 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 119 0 0.00 113 59 34.10 MUC5B 0 genome.wustl.edu 37 11 1265962 1265962 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 1265962 1265962 G T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7861 p.A2621S 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 178 0 0.00 113 59 34.10 MUTYH 0 genome.wustl.edu 37 1 45796970 45796970 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 45796970 45796970 G T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.1360 p.Q454K 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 tier1 - - 58 0 0.00 71 4 5.33 MUTYH 0 genome.wustl.edu 37 1 45796970 45796970 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 45796970 45796970 G T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.1360 p.Q454K 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 tier1 - - 62 0 0.00 71 4 5.33 MX1 0 genome.wustl.edu 37 21 42807878 42807878 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 21 42807878 42807878 G T SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.220 p.A74S 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 14 0 0.00 33 3 8.33 MYH15 0 genome.wustl.edu 37 3 108214704 108214704 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 108214704 108214704 G T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.694 p.Q232K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 45 0 0.00 52 4 7.14 MYO1C 0 genome.wustl.edu 37 17 1386153 1386153 + Splice_Site SNP A A C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 1386153 1386153 A C SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known splice_site c.546+2 e4+2 1.000 - - - no_errors MYO1C HGNC ENSG00000197879 17 0 0.00 23 5 17.86 MYO3A 0 genome.wustl.edu 37 10 26443690 26443690 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 26443690 26443690 G T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.2731 p.A911S 0.002 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 46 0 0.00 66 4 5.71 NAPEPLD 0 genome.wustl.edu 37 7 102760461 102760461 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 102760461 102760461 G T SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known silent c.723 p.S241 0.101 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 40 0 0.00 38 3 7.14 NBPF3 0 genome.wustl.edu 37 1 21804677 21804677 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 21804677 21804677 T C SNP NBPF3 ENST00000318249 human ensembl 74_37 +1 known missense c.1033 p.S345P 0.001 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF3 HGNC ENSG00000142794 tier1 - - 151 0 0.00 182 52 22.22 NCOR2 0 genome.wustl.edu 37 12 124870324 124870324 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 124870324 124870324 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.1986 p.L662 0.997 superfamily_Homeodomain-like pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 31 0 0.00 31 3 8.82 NDUFS1 0 genome.wustl.edu 37 2 207012367 207012367 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 207012367 207012367 C T SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.481 p.G161R 1.000 pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 tier1 - - 50 0 0.00 108 6 5.26 NDUFS1 0 genome.wustl.edu 37 2 207012367 207012367 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 207012367 207012367 C T SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.481 p.G161R 1.000 pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 tier1 - - 94 0 0.00 108 6 5.26 NES 0 genome.wustl.edu 37 1 156646344 156646344 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 156646344 156646344 C T SNP NES ENST00000368223 human ensembl 74_37 -1 known missense c.713 p.R238H 0.788 pfam_IF pfam_IF - no_errors NES HGNC ENSG00000132688 tier1 - - 54 0 0.00 39 19 32.76 NLRP11 0 genome.wustl.edu 37 19 56329311 56329311 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56329311 56329311 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.230 p.R77H 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 25 0 0.00 17 10 37.04 NLRP11 0 genome.wustl.edu 37 19 56329311 56329311 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56329311 56329311 C T SNP NLRP11 ENST00000443188 human ensembl 74_37 -1 known missense c.230 p.R77H 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 tier1 - - 28 0 0.00 17 10 37.04 NLRP8 0 genome.wustl.edu 37 19 56467321 56467321 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56467321 56467321 G T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1897 p.V633F 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 36 0 0.00 51 4 7.27 NLRP8 0 genome.wustl.edu 37 19 56467321 56467321 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56467321 56467321 G T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known missense c.1897 p.V633F 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 48 0 0.00 51 4 7.27 NOP14 0 genome.wustl.edu 37 4 2956259 2956259 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 2956259 2956259 G T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known silent c.504 p.G168 0.002 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 32 0 0.00 60 4 6.25 NRXN1 0 genome.wustl.edu 37 2 50758518 50758518 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 50758518 50758518 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2170 p.P724T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 31 0 0.00 56 4 6.67 NRXN1 0 genome.wustl.edu 37 2 50758518 50758518 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 50758518 50758518 G T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.2170 p.P724T 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 45 0 0.00 56 4 6.67 NSD1 0 genome.wustl.edu 37 5 176678794 176678794 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 176678794 176678794 G T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known nonsense c.4705 p.E1569* 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 53 0 0.00 48 22 31.43 NSD1 0 genome.wustl.edu 37 5 176709523 176709523 + Nonsense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 176709523 176709523 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known nonsense c.5950 p.R1984* 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 41 0 0.00 28 8 22.22 NSL1 0 genome.wustl.edu 37 1 212911901 212911901 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 212911901 212911901 G T SNP NSL1 ENST00000366977 human ensembl 74_37 -1 known missense c.695 p.P232H 0.051 NULL pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 tier1 - - 57 0 0.00 68 4 5.56 NUP210L 0 genome.wustl.edu 37 1 154061967 154061967 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 154061967 154061967 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known nonsense c.2291 p.S764* 0.819 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 43 0 0.00 57 4 6.56 NUP210L 0 genome.wustl.edu 37 1 154061967 154061967 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 154061967 154061967 G T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known nonsense c.2291 p.S764* 0.819 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 67 0 0.00 57 4 6.56 NUTM1 0 genome.wustl.edu 37 15 34648679 34648679 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 34648679 34648679 G A SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.2386 p.A796T 0.008 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 tier1 - - 11 0 0.00 21 11 34.38 NUTM1 0 genome.wustl.edu 37 15 34648679 34648679 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 34648679 34648679 G A SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known missense c.2386 p.A796T 0.008 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 tier1 - - 26 0 0.00 21 11 34.38 OR10G2 0 genome.wustl.edu 37 14 22102857 22102857 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 22102857 22102857 G A SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known missense c.142 p.L48F 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 tier1 - - 31 0 0.00 61 25 29.07 OR2B6 0 genome.wustl.edu 37 6 27925709 27925709 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 27925709 27925709 G T SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.691 p.A231S 0.874 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 tier1 - - 32 0 0.00 61 4 6.15 OR2B6 0 genome.wustl.edu 37 6 27925709 27925709 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 27925709 27925709 G T SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.691 p.A231S 0.874 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 tier1 - - 49 0 0.00 61 4 6.15 OR2G3 0 genome.wustl.edu 37 1 247769044 247769044 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 247769044 247769044 C A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.157 p.P53T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 tier1 - - 34 0 0.00 33 4 10.81 OR2G3 0 genome.wustl.edu 37 1 247769044 247769044 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 247769044 247769044 C A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.157 p.P53T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 tier1 - - 47 0 0.00 33 4 10.81 OR4C11 0 genome.wustl.edu 37 11 55371492 55371492 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 55371492 55371492 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.358 p.R120C 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 tier1 rs139149255 - 19 0 0.00 11 22 66.67 OR4C11 0 genome.wustl.edu 37 11 55371492 55371492 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 55371492 55371492 G A SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.358 p.R120C 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 tier1 rs139149255 - 35 0 0.00 11 22 66.67 OR4C5 0 genome.wustl.edu 37 11 48387258 48387258 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 48387258 48387258 C T SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known missense c.760 p.A254T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 rs78030134 - 39 0 0.00 59 8 11.94 OR4C5 0 genome.wustl.edu 37 11 48387262 48387262 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 48387262 48387262 G A SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known silent c.756 p.T252 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 rs75430864 - 38 0 0.00 57 8 12.31 OR52E8 0 genome.wustl.edu 37 11 5878582 5878582 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 5878582 5878582 C T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.351 p.E117 0.026 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 tier1 - - 62 0 0.00 52 16 23.53 OR52E8 0 genome.wustl.edu 37 11 5878582 5878582 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 5878582 5878582 C T SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.351 p.E117 0.026 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 tier1 - - 76 0 0.00 52 16 23.53 OSBPL8 0 genome.wustl.edu 37 12 76881290 76881290 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 76881290 76881290 C T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known silent c.42 p.S14 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 42 0 0.00 67 4 5.63 OSBPL8 0 genome.wustl.edu 37 12 76881290 76881290 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 76881290 76881290 C T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known silent c.42 p.S14 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 tier1 - - 69 0 0.00 67 4 5.63 PAMR1 0 genome.wustl.edu 37 11 35492294 35492294 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 35492294 35492294 G A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known silent c.567 p.N189 0.966 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 tier1 - - 29 0 0.00 37 4 9.76 PAPPA2 0 genome.wustl.edu 37 1 176659352 176659352 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 176659352 176659352 G T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.2217 p.L739 1.000 pfam_Peptidase_M43 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 35 0 0.00 23 11 31.43 PCSK5 0 genome.wustl.edu 37 9 78925663 78925663 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 78925663 78925663 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.3699 p.E1233 0.981 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 22 0 0.00 25 11 30.56 PCSK5 0 genome.wustl.edu 37 9 78925663 78925663 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 78925663 78925663 G A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known silent c.3699 p.E1233 0.981 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 37 0 0.00 25 11 30.56 PFAS 0 genome.wustl.edu 37 17 8172309 8172309 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 8172309 8172309 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3744 p.Q1248H 0.983 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 38 0 0.00 77 5 6.10 PFAS 0 genome.wustl.edu 37 17 8172309 8172309 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 8172309 8172309 G T SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.3744 p.Q1248H 0.983 tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 81 0 0.00 77 5 6.10 PHF15 0 genome.wustl.edu 37 5 133873737 133873737 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 133873737 133873737 G T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.117 p.S39 0.858 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 25 0 0.00 32 2 5.88 PHF19 0 genome.wustl.edu 37 9 123632125 123632125 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 123632125 123632125 G T SNP PHF19 ENST00000373896 human ensembl 74_37 -1 known silent c.463 p.R155 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD - no_errors PHF19 HGNC ENSG00000119403 tier1 - - 41 0 0.00 36 4 10.00 PIAS4 0 genome.wustl.edu 37 19 4033481 4033481 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 4033481 4033481 G A SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.1045 p.D349N 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 tier1 - - 37 0 0.00 47 10 16.95 PIAS4 0 genome.wustl.edu 37 19 4033481 4033481 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 4033481 4033481 G A SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.1045 p.D349N 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 tier1 - - 50 0 0.00 47 10 16.95 PITX3 0 genome.wustl.edu 37 10 103990330 103990330 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 103990330 103990330 C G SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known missense c.850 p.G284R 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 tier1 - - 44 0 0.00 60 4 6.25 PKDREJ 0 genome.wustl.edu 37 22 46653089 46653089 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 46653089 46653089 G T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.6131 p.S2044Y 0.103 pfam_PKD1_2_channel,pfam_Ion_trans_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 17 0 0.00 22 2 8.33 PLEKHM1P 0 genome.wustl.edu 37 17 62811071 62811071 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 62811071 62811071 G T SNP PLEKHM1P ENST00000580919 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 20 0 0.00 49 9 15.52 PLEKHM1P 0 genome.wustl.edu 37 17 62811071 62811071 + RNA SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 62811071 62811071 G T SNP PLEKHM1P ENST00000580919 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 42 0 0.00 49 9 15.52 POLG 0 genome.wustl.edu 37 15 89869959 89869959 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 89869959 89869959 G T SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.1596 p.P532 0.190 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 - - 32 0 0.00 44 4 8.33 POLG 0 genome.wustl.edu 37 15 89869959 89869959 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 89869959 89869959 G T SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.1596 p.P532 0.190 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 tier1 - - 52 0 0.00 44 4 8.33 POLQ 0 genome.wustl.edu 37 3 121208707 121208707 + Missense_Mutation SNP T T G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 121208707 121208707 T G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.3071 p.K1024T 0.615 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 27 0 0.00 42 3 6.67 POLR1B 0 genome.wustl.edu 37 2 113306968 113306968 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 113306968 113306968 C A SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.731 p.T244N 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 73 0 0.00 88 33 27.27 POLR1B 0 genome.wustl.edu 37 2 113306968 113306968 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 113306968 113306968 C A SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.731 p.T244N 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 tier1 - - 92 0 0.00 88 33 27.27 POTEF 0 genome.wustl.edu 37 2 130832231 130832231 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 130832231 130832231 C A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2814 p.K938N 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 46 0 0.00 46 17 26.98 POTEF 0 genome.wustl.edu 37 2 130832231 130832231 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 130832231 130832231 C A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2814 p.K938N 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 tier1 - - 80 0 0.00 46 17 26.98 PPM1F 0 genome.wustl.edu 37 22 22285609 22285609 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 22285609 22285609 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.802 p.H268Y 0.897 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 tier1 - - 28 0 0.00 42 4 8.70 PPM1F 0 genome.wustl.edu 37 22 22285609 22285609 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 22 22285609 22285609 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.802 p.H268Y 0.897 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 tier1 - - 42 0 0.00 42 4 8.70 PRAMEF5 0 genome.wustl.edu 37 1 13366043 13366043 + Missense_Mutation SNP T T C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 13366043 13366043 T C SNP PRAMEF5 ENST00000376168 human ensembl 74_37 +1 known missense c.487 p.Y163H 0.002 NULL NULL - no_errors PRAMEF5 HGNC ENSG00000204502 tier1 - - 9 0 0.00 3 3 50.00 PRPF40B 0 genome.wustl.edu 37 12 50036107 50036107 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 50036107 50036107 G T SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.1974 p.M658I 1.000 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 14 0 0.00 22 5 18.52 PRPF40B 0 genome.wustl.edu 37 12 50036108 50036108 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 50036108 50036108 C T SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known silent c.1975 p.L659 1.000 superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 13 0 0.00 22 5 18.52 PRRT1 0 genome.wustl.edu 37 6 32116781 32116781 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 32116781 32116781 G A SNP PRRT1 ENST00000467780 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 48 0 0.00 57 17 22.97 PRRT1 0 genome.wustl.edu 37 6 32116781 32116781 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 32116781 32116781 G A SNP PRRT1 ENST00000467780 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 99 0 0.00 57 17 22.97 PRRT1 0 genome.wustl.edu 37 6 32117443 32117443 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 32117443 32117443 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known silent c.615 p.P205 0.943 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 19 0 0.00 19 7 26.92 PRRT1 0 genome.wustl.edu 37 6 32117443 32117443 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 32117443 32117443 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known silent c.615 p.P205 0.943 NULL pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 tier1 - - 42 0 0.00 19 7 26.92 PRSS35 0 genome.wustl.edu 37 6 84233206 84233206 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 84233206 84233206 A G SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.46 p.T16A 0.001 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 46 0 0.00 43 14 24.56 PRSS35 0 genome.wustl.edu 37 6 84233206 84233206 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 84233206 84233206 A G SNP PRSS35 ENST00000369700 human ensembl 74_37 +1 known missense c.46 p.T16A 0.001 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors PRSS35 HGNC ENSG00000146250 tier1 - - 66 0 0.00 43 14 24.56 PTPN21 0 genome.wustl.edu 37 14 88945961 88945961 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 88945961 88945961 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1814 p.T605M 0.999 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 34 0 0.00 41 25 37.88 PTPN23 0 genome.wustl.edu 37 3 47454574 47454574 + Missense_Mutation SNP A A C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 47454574 47454574 A C SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4810 p.N1604H 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 45 0 0.00 30 9 23.08 PTPN23 0 genome.wustl.edu 37 3 47454574 47454574 + Missense_Mutation SNP A A C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 47454574 47454574 A C SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.4810 p.N1604H 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 tier1 - - 50 0 0.00 30 9 23.08 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827753 + Frame_Shift_Del DEL A A - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 125827753 125827753 A - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717 p.K576fs 0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 tier1 42 0 0.00 52 6 10.34 RABGGTB 0 genome.wustl.edu 37 1 76255542 76255542 + RNA DEL A A - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 76255542 76255542 A - DEL RABGGTB ENST00000461653 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 tier1 29 0 0.00 33 2 5.71 RASGEF1C 0 genome.wustl.edu 37 5 179528352 179528353 + RNA DEL GG GG - TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 179528352 179528353 GG - DEL RASGEF1C ENST00000519456 human ensembl 74_37 -1 known rna NULL NULL 0.147:0.007 - - - no_errors RASGEF1C HGNC ENSG00000146090 tier1 18 0 0.00 19 6 24.00 RBFOX1 0 genome.wustl.edu 37 16 7743345 7743345 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 7743345 7743345 G T SNP RBFOX1 ENST00000547372 human ensembl 74_37 +1 known nonsense c.1153 p.E385* 1.000 pirsf_RNA-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 34 0 0.00 48 3 5.88 RBM26 0 genome.wustl.edu 37 13 79940176 79940176 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 79940176 79940176 G A SNP RBM26 ENST00000461008 human ensembl 74_37 -1 known rna NULL NULL 0.459 - - - no_errors RBM26 HGNC ENSG00000139746 tier1 - - 22 0 0.00 29 6 17.14 RBM26 0 genome.wustl.edu 37 13 79940176 79940176 + RNA SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 79940176 79940176 G A SNP RBM26 ENST00000461008 human ensembl 74_37 -1 known rna NULL NULL 0.459 - - - no_errors RBM26 HGNC ENSG00000139746 tier1 - - 25 0 0.00 29 6 17.14 RBMS1 0 genome.wustl.edu 37 2 161130757 161130757 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 161130757 161130757 C T SNP RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 - - 40 0 0.00 74 22 22.92 RBMS1 0 genome.wustl.edu 37 2 161130757 161130757 + RNA SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 161130757 161130757 C T SNP RBMS1 ENST00000474820 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RBMS1 HGNC ENSG00000153250 tier1 - - 47 0 0.00 74 22 22.92 RELN 0 genome.wustl.edu 37 7 103234836 103234836 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 103234836 103234836 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.3643 p.D1215Y 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 22 0 0.00 48 3 5.88 RFT1 0 genome.wustl.edu 37 3 53145865 53145865 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 53145865 53145865 C A SNP RFT1 ENST00000296292 human ensembl 74_37 -1 known missense c.756 p.L252F 1.000 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 40 0 0.00 66 4 5.71 RHBG 0 genome.wustl.edu 37 1 156354355 156354355 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 156354355 156354355 C A SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.1268 p.P423Q 0.476 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 48 0 0.00 71 5 6.58 RICTOR 0 genome.wustl.edu 37 5 38945021 38945021 + Silent SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 38945021 38945021 A G SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known silent c.4855 p.L1619 0.748 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 tier1 - - 48 0 0.00 65 15 18.75 RIMS1 0 genome.wustl.edu 37 6 72955519 72955519 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 72955519 72955519 G T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.2083 p.D695Y 1.000 superfamily_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 62 0 0.00 52 4 7.14 RNASE4 0 genome.wustl.edu 37 14 21167735 21167735 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 21167735 21167735 C T SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known missense c.205 p.R69C 0.300 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 tier1 - - 29 0 0.00 32 7 17.95 RNASE4 0 genome.wustl.edu 37 14 21167735 21167735 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 21167735 21167735 C T SNP RNASE4 ENST00000304704 human ensembl 74_37 +1 known missense c.205 p.R69C 0.300 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE4 HGNC ENSG00000258818 tier1 - - 41 0 0.00 32 7 17.95 RNF213 0 genome.wustl.edu 37 17 78350691 78350691 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 78350691 78350691 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13438 p.L4480I 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 23 0 0.00 34 9 20.93 RNF213 0 genome.wustl.edu 37 17 78350691 78350691 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 78350691 78350691 C A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.13438 p.L4480I 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 37 0 0.00 34 9 20.93 ROBO3 0 genome.wustl.edu 37 11 124740981 124740981 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 124740981 124740981 G T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known nonsense c.1105 p.E369* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 25 0 0.00 37 2 5.13 ROR2 0 genome.wustl.edu 37 9 94489026 94489026 + Splice_Site SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 94489026 94489026 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known splice_site c.1184-1 e8-1 1.000 - - - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 17 0 0.00 25 12 32.43 ROR2 0 genome.wustl.edu 37 9 94489026 94489026 + Splice_Site SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 94489026 94489026 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known splice_site c.1184-1 e8-1 1.000 - - - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 22 0 0.00 25 12 32.43 RPL12P38 0 genome.wustl.edu 37 17 58512418 58512419 + RNA INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 58512418 58512419 - A INS RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998:0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 tier1 37 0 0.00 55 5 8.33 RPLP0P2 0 genome.wustl.edu 37 11 61405193 61405193 + RNA SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 61405193 61405193 A G SNP RPLP0P2 ENST00000496593 human ensembl 74_37 +1 known rna NULL NULL 0.179 - - - no_errors RPLP0P2 HGNC ENSG00000243742 63 0 0.00 112 7 5.88 RSPO4 0 genome.wustl.edu 37 20 982768 982768 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 982768 982768 C T SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.40 p.A14T 0.910 NULL superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 8 0 0.00 10 2 16.67 RYR1 0 genome.wustl.edu 37 19 39025783 39025783 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 39025783 39025783 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known nonsense c.11362 p.E3788* 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 26 0 0.00 32 2 5.88 SAMD14 0 genome.wustl.edu 37 17 48191301 48191301 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 48191301 48191301 C T SNP SAMD14 ENST00000503131 human ensembl 74_37 -1 known missense c.1169 p.G390E 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD14 HGNC ENSG00000167100 tier1 - - 47 0 0.00 42 23 35.38 SAMD14 0 genome.wustl.edu 37 17 48191301 48191301 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 17 48191301 48191301 C T SNP SAMD14 ENST00000503131 human ensembl 74_37 -1 known missense c.1169 p.G390E 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD14 HGNC ENSG00000167100 tier1 - - 84 0 0.00 42 23 35.38 SAMD9L 0 genome.wustl.edu 37 7 92762703 92762703 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 92762703 92762703 A G SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.2582 p.L861P 1.000 superfamily_P-loop_NTPase superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 17 0 0.00 15 9 37.50 SDK1 0 genome.wustl.edu 37 7 3678687 3678687 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 3678687 3678687 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.510 p.V170 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 26 0 0.00 46 4 8.00 SEC22C 0 genome.wustl.edu 37 3 42610376 42610376 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 42610376 42610376 C A SNP SEC22C ENST00000264454 human ensembl 74_37 -1 known missense c.163 p.G55C 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22C HGNC ENSG00000093183 tier1 - - 42 0 0.00 59 4 6.35 SEC22C 0 genome.wustl.edu 37 3 42610376 42610376 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 42610376 42610376 C A SNP SEC22C ENST00000264454 human ensembl 74_37 -1 known missense c.163 p.G55C 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom superfamily_Longin-like_dom,pfscan_Longin_dom - no_errors SEC22C HGNC ENSG00000093183 tier1 - - 52 0 0.00 59 4 6.35 SELP 0 genome.wustl.edu 37 1 169586496 169586496 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 169586496 169586496 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.251 p.P84L 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 77 0 0.00 68 24 26.09 SELP 0 genome.wustl.edu 37 1 169586496 169586496 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 169586496 169586496 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.251 p.P84L 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 tier1 - - 87 0 0.00 68 24 26.09 SEMA4D 0 genome.wustl.edu 37 9 92006182 92006182 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 92006182 92006182 G T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known nonsense c.771 p.C257* 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 20 0 0.00 28 3 9.68 SETD2 0 genome.wustl.edu 37 3 47155365 47155365 + Splice_Site SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 47155365 47155365 C G SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known splice_site c.4715+1 e5+1 1.000 - - - no_errors SETD2 HGNC ENSG00000181555 13 0 0.00 14 8 36.36 SFRP4 0 genome.wustl.edu 37 7 37947216 37947216 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 37947216 37947216 C A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.906 p.K302N 0.931 pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 tier1 - - 49 0 0.00 43 16 27.12 SFRP4 0 genome.wustl.edu 37 7 37947216 37947216 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 37947216 37947216 C A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.906 p.K302N 0.931 pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 tier1 - - 62 0 0.00 43 16 27.12 SH3BP5-AS1 0 genome.wustl.edu 37 3 15297082 15297083 + RNA INS - - T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 15297082 15297083 - T INS SH3BP5-AS1 ENST00000420195 human ensembl 74_37 +1 known rna NULL NULL 0.057:0.010 - - - no_errors SH3BP5-AS1 HGNC ENSG00000224660 tier1 20 0 0.00 14 4 22.22 SLC18A3 0 genome.wustl.edu 37 10 50818987 50818987 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 50818987 50818987 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.201 p.G67 0.907 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 18 0 0.00 17 11 39.29 SLC26A2 0 genome.wustl.edu 37 5 149357798 149357798 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 149357798 149357798 G T SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known nonsense c.583 p.G195* 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 tier1 - - 17 0 0.00 25 9 26.47 SLC26A2 0 genome.wustl.edu 37 5 149357798 149357798 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 149357798 149357798 G T SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known nonsense c.583 p.G195* 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 tier1 - - 27 0 0.00 25 9 26.47 SLC26A9 0 genome.wustl.edu 37 1 205897959 205897959 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 205897959 205897959 G T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.949 p.R317S 0.431 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 23 0 0.00 33 2 5.71 SLC40A1 0 genome.wustl.edu 37 2 190426823 190426823 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 190426823 190426823 C A SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known missense c.1497 p.M499I 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 tier1 - - 35 0 0.00 42 4 8.70 SLC40A1 0 genome.wustl.edu 37 2 190426823 190426823 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 190426823 190426823 C A SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known missense c.1497 p.M499I 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 tier1 - - 48 0 0.00 42 4 8.70 SLC4A10 0 genome.wustl.edu 37 2 162751223 162751223 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 162751223 162751223 G A SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1229 p.R410H 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 92 0 0.00 69 51 42.50 SLC4A2 0 genome.wustl.edu 37 7 150762016 150762016 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 150762016 150762016 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.541 p.E181K 0.977 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 51 0 0.00 71 6 7.79 SLC4A2 0 genome.wustl.edu 37 7 150762016 150762016 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 150762016 150762016 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.541 p.E181K 0.977 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 tier1 - - 97 0 0.00 71 6 7.79 SLC6A20 0 genome.wustl.edu 37 3 45814027 45814027 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 45814027 45814027 G T SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known silent c.663 p.T221 0.991 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 tier1 - - 31 0 0.00 47 4 7.84 SLC6A20 0 genome.wustl.edu 37 3 45814027 45814027 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 45814027 45814027 G T SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known silent c.663 p.T221 0.991 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 tier1 - - 41 0 0.00 47 4 7.84 SLC7A6 0 genome.wustl.edu 37 16 68308966 68308966 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 68308966 68308966 G T SNP SLC7A6 ENST00000219343 human ensembl 74_37 +1 known missense c.337 p.A113S 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A6 HGNC ENSG00000103064 31 0 0.00 51 3 5.56 SLC9A3 0 genome.wustl.edu 37 5 488464 488464 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 488464 488464 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.642 p.F214 0.961 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 50 0 0.00 52 25 32.47 SLC9A3 0 genome.wustl.edu 37 5 488464 488464 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 488464 488464 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.642 p.F214 0.961 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 65 0 0.00 52 25 32.47 SLCO1B7 0 genome.wustl.edu 37 12 21196409 21196409 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 21196409 21196409 G A SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known missense c.869 p.R290K 0.013 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 tier1 - - 67 0 0.00 62 27 30.34 SLTM 0 genome.wustl.edu 37 15 59225696 59225696 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 59225696 59225696 G T SNP SLTM ENST00000380516 human ensembl 74_37 -1 known silent c.69 p.T23 0.809 smart_SAP_dom,pfscan_SAP_dom pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 21 0 0.00 36 4 10.00 SMARCA4 0 genome.wustl.edu 37 19 11144146 11144146 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 11144146 11144146 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3727 p.R1243W 0.997 pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 35 0 0.00 32 15 31.91 SMARCA4 0 genome.wustl.edu 37 19 11144146 11144146 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 11144146 11144146 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3727 p.R1243W 0.997 pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 55 0 0.00 32 15 31.91 SMCO2 0 genome.wustl.edu 37 12 27627742 27627742 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 27627742 27627742 G T SNP SMCO2 ENST00000416383 human ensembl 74_37 +1 known missense c.258 p.E86D 0.037 NULL NULL - no_errors SMCO2 HGNC ENSG00000165935 tier1 - - 53 0 0.00 59 4 6.35 SMCO2 0 genome.wustl.edu 37 12 27627742 27627742 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 27627742 27627742 G T SNP SMCO2 ENST00000416383 human ensembl 74_37 +1 known missense c.258 p.E86D 0.037 NULL NULL - no_errors SMCO2 HGNC ENSG00000165935 tier1 - - 62 0 0.00 59 4 6.35 SMLR1 0 genome.wustl.edu 37 6 131148611 131148611 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 131148611 131148611 G T SNP SMLR1 ENST00000541421 human ensembl 74_37 +1 putative missense c.58 p.A20S 0.001 NULL NULL - no_errors SMLR1 HGNC ENSG00000256162 tier1 - - 110 0 0.00 93 5 5.10 SMLR1 0 genome.wustl.edu 37 6 131148611 131148611 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 131148611 131148611 G T SNP SMLR1 ENST00000541421 human ensembl 74_37 +1 putative missense c.58 p.A20S 0.001 NULL NULL - no_errors SMLR1 HGNC ENSG00000256162 tier1 - - 64 0 0.00 93 5 5.10 SMO 0 genome.wustl.edu 37 7 128850838 128850838 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 7 128850838 128850838 G T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1685 p.R562L 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 12 0 0.00 25 2 7.41 SNAPC3 0 genome.wustl.edu 37 9 15451373 15451373 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 15451373 15451373 G T SNP SNAPC3 ENST00000380821 human ensembl 74_37 +1 known missense c.788 p.R263I 1.000 pfam_snRNA-activating_su3 pfam_snRNA-activating_su3 - no_errors SNAPC3 HGNC ENSG00000164975 21 0 0.00 38 4 9.52 SNORA72 0 genome.wustl.edu 37 8 99054503 99054504 + RNA INS - - T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 8 99054503 99054504 - T INS SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 tier1 18 0 0.00 30 3 9.09 SORCS1 0 genome.wustl.edu 37 10 108923969 108923969 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 108923969 108923969 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.316 p.G106S 0.002 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 tier1 - - 9 0 0.00 21 5 19.23 SPAG8 0 genome.wustl.edu 37 9 35809795 35809795 + RNA SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 35809795 35809795 C G SNP SPAG8 ENST00000489063 human ensembl 74_37 -1 known rna NULL NULL 0.120 - - - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 23 0 0.00 21 9 30.00 SPAG8 0 genome.wustl.edu 37 9 35809795 35809795 + RNA SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 35809795 35809795 C G SNP SPAG8 ENST00000489063 human ensembl 74_37 -1 known rna NULL NULL 0.120 - - - no_errors SPAG8 HGNC ENSG00000137098 tier1 - - 8 0 0.00 21 9 30.00 SPANXN1 0 genome.wustl.edu 37 X 144337320 144337320 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 144337320 144337320 A T SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.205 p.N69Y 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 tier1 - - 112 0 0.00 60 23 27.71 SPANXN1 0 genome.wustl.edu 37 X 144337320 144337320 + Missense_Mutation SNP A A T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 144337320 144337320 A T SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known missense c.205 p.N69Y 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 tier1 - - 72 0 0.00 60 23 27.71 SPATA21 0 genome.wustl.edu 37 1 16752165 16752165 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 16752165 16752165 G T SNP SPATA21 ENST00000375577 human ensembl 74_37 -1 known missense c.343 p.Q115K 0.003 NULL NULL - no_errors SPATA21 HGNC ENSG00000187144 tier1 - - 46 0 0.00 49 4 7.55 SPATA21 0 genome.wustl.edu 37 1 16752165 16752165 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 16752165 16752165 G T SNP SPATA21 ENST00000375577 human ensembl 74_37 -1 known missense c.343 p.Q115K 0.003 NULL NULL - no_errors SPATA21 HGNC ENSG00000187144 tier1 - - 82 0 0.00 49 4 7.55 SPINK5 0 genome.wustl.edu 37 5 147481362 147481362 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 147481362 147481362 C T SNP SPINK5 ENST00000359874 human ensembl 74_37 +1 known missense c.1321 p.R441C 0.023 smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 tier1 - - 28 0 0.00 33 4 10.81 ST3GAL4 0 genome.wustl.edu 37 11 126283472 126283472 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 126283472 126283472 G T SNP ST3GAL4 ENST00000356132 human ensembl 74_37 +1 known missense c.862 p.G288C 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 tier1 - - 51 0 0.00 36 4 10.00 STX5 0 genome.wustl.edu 37 11 62595064 62595064 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 62595064 62595064 G T SNP STX5 ENST00000294179 human ensembl 74_37 -1 known silent c.265 p.R89 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX5 HGNC ENSG00000162236 25 0 0.00 25 2 7.41 SULT2B1 0 genome.wustl.edu 37 19 49102487 49102487 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 49102487 49102487 C T SNP SULT2B1 ENST00000201586 human ensembl 74_37 +1 known missense c.922 p.P308S 0.546 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT2B1 HGNC ENSG00000088002 101 0 0.00 101 6 5.61 SURF2 0 genome.wustl.edu 37 9 136226967 136226967 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 136226967 136226967 G T SNP SURF2 ENST00000371964 human ensembl 74_37 +1 known missense c.479 p.G160V 0.007 pfam_Surf2 pfam_Surf2 - no_errors SURF2 HGNC ENSG00000148291 34 0 0.00 46 4 8.00 SURF6 0 genome.wustl.edu 37 9 136198862 136198862 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 136198862 136198862 C A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.929 p.R310L 0.985 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 10 0 0.00 13 2 13.33 SWT1 0 genome.wustl.edu 37 1 185130022 185130022 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 185130022 185130022 G T SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.49 p.D17Y 0.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 28 0 0.00 71 4 5.33 TAB2 0 genome.wustl.edu 37 6 149699391 149699391 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 149699391 149699391 G T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.340 p.G114C 0.998 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 tier1 - - 37 0 0.00 46 4 8.00 TAB2 0 genome.wustl.edu 37 6 149699391 149699391 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 6 149699391 149699391 G T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.340 p.G114C 0.998 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 tier1 - - 38 0 0.00 46 4 8.00 TAF1 0 genome.wustl.edu 37 X 70617240 70617240 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 70617240 70617240 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.3541 p.R1181C 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 50 0 0.00 40 15 27.27 TAF1 0 genome.wustl.edu 37 X 70617240 70617240 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 70617240 70617240 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.3541 p.R1181C 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 76 0 0.00 40 15 27.27 TAF1B 0 genome.wustl.edu 37 2 9989570 9989571 + Frame_Shift_Ins INS - - A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 9989570 9989571 - A INS TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.N65fs 0.992:0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 23 0 0.00 26 5 16.13 TBC1D21 0 genome.wustl.edu 37 15 74181427 74181427 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 74181427 74181427 G A SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known silent c.996 p.K332 0.860 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 tier1 - - 33 0 0.00 21 10 32.26 TBC1D21 0 genome.wustl.edu 37 15 74181427 74181427 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 15 74181427 74181427 G A SNP TBC1D21 ENST00000300504 human ensembl 74_37 +1 known silent c.996 p.K332 0.860 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 tier1 - - 47 0 0.00 21 10 32.26 TFAP2C 0 genome.wustl.edu 37 20 55206907 55206907 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 20 55206907 55206907 G A SNP TFAP2C ENST00000201031 human ensembl 74_37 +1 known missense c.581 p.R194H 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma - no_errors TFAP2C HGNC ENSG00000087510 43 0 0.00 53 3 5.36 TFRC 0 genome.wustl.edu 37 3 195791279 195791279 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 195791279 195791279 C A SNP TFRC ENST00000360110 human ensembl 74_37 -1 known missense c.1219 p.A407S 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 tier1 - - 43 0 0.00 56 7 11.11 TFRC 0 genome.wustl.edu 37 3 195791279 195791279 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 3 195791279 195791279 C A SNP TFRC ENST00000360110 human ensembl 74_37 -1 known missense c.1219 p.A407S 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 tier1 - - 51 0 0.00 56 7 11.11 TH 0 genome.wustl.edu 37 11 2191949 2191949 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 2191949 2191949 G T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.154 p.P52T 0.000 pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 - - 20 0 0.00 19 4 17.39 THYN1 0 genome.wustl.edu 37 11 134121080 134121080 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 134121080 134121080 G T SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.166 p.H56N 0.991 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 tier1 - - 39 0 0.00 42 4 8.70 THYN1 0 genome.wustl.edu 37 11 134121080 134121080 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 11 134121080 134121080 G T SNP THYN1 ENST00000341541 human ensembl 74_37 -1 known missense c.166 p.H56N 0.991 pfam_EVE_domain,superfamily_PUA-like_domain pfam_EVE_domain,superfamily_PUA-like_domain - no_errors THYN1 HGNC ENSG00000151500 tier1 - - 47 0 0.00 42 4 8.70 TLX1 0 genome.wustl.edu 37 10 102896595 102896595 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 102896595 102896595 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known silent c.918 p.L306 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 tier1 - - 33 0 0.00 35 4 10.26 TMEM132C 0 genome.wustl.edu 37 12 129189834 129189834 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 129189834 129189834 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2321 p.T774M 0.996 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 24 0 0.00 34 15 30.61 TMEM132C 0 genome.wustl.edu 37 12 129189834 129189834 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 129189834 129189834 C T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.2321 p.T774M 0.996 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 44 0 0.00 34 15 30.61 TNIP1 0 genome.wustl.edu 37 5 150411870 150411870 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 150411870 150411870 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known silent c.1854 p.P618 0.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 52 0 0.00 48 18 27.27 TNIP1 0 genome.wustl.edu 37 5 150411870 150411870 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 150411870 150411870 G A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known silent c.1854 p.P618 0.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 tier1 - - 77 0 0.00 48 18 27.27 TPSAB1 0 genome.wustl.edu 37 16 1291206 1291206 + Silent SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 1291206 1291206 C G SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known silent c.114 p.P38 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 108 0 0.00 96 21 17.95 TPSAB1 0 genome.wustl.edu 37 16 1291206 1291206 + Silent SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 1291206 1291206 C G SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known silent c.114 p.P38 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 tier1 - - 86 0 0.00 96 21 17.95 TRIM58 0 genome.wustl.edu 37 1 248039251 248039251 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 248039251 248039251 C T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.921 p.T307 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,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 TRIM58 HGNC ENSG00000162722 tier1 - - 35 0 0.00 35 10 22.22 TRIM58 0 genome.wustl.edu 37 1 248039251 248039251 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 248039251 248039251 C T SNP TRIM58 ENST00000366481 human ensembl 74_37 +1 known silent c.921 p.T307 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,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 TRIM58 HGNC ENSG00000162722 tier1 - - 39 0 0.00 35 10 22.22 TTN 0 genome.wustl.edu 37 2 179412140 179412140 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 179412140 179412140 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86509 p.P28837A 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 26 0 0.00 37 19 33.93 TTN 0 genome.wustl.edu 37 2 179412140 179412140 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 179412140 179412140 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.86509 p.P28837A 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 40 0 0.00 37 19 33.93 TTN 0 genome.wustl.edu 37 2 179647087 179647087 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 179647087 179647087 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3232 p.E1078K 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 28 0 0.00 17 19 52.78 TTN 0 genome.wustl.edu 37 2 179647087 179647087 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 179647087 179647087 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.3232 p.E1078K 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 56 0 0.00 17 19 52.78 TTN 0 genome.wustl.edu 37 2 179643819 179643819 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 179643819 179643819 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.3990 p.R1330 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 15 0 0.00 27 2 6.90 UNC5D 0 genome.wustl.edu 37 8 35624506 35624506 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 8 35624506 35624506 C A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.2400 p.T800 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 25 0 0.00 35 18 33.96 UNC5D 0 genome.wustl.edu 37 8 35624506 35624506 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 8 35624506 35624506 C A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.2400 p.T800 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 tier1 - - 39 0 0.00 35 18 33.96 UNC79 0 genome.wustl.edu 37 14 94038291 94038291 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 14 94038291 94038291 G T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1807 p.G603C 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 31 0 0.00 41 3 6.82 USP38 0 genome.wustl.edu 37 4 144107006 144107006 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 4 144107006 144107006 G A SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.403 p.V135M 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 18 0 0.00 38 2 5.00 USP51 0 genome.wustl.edu 37 X 55515327 55515327 + Missense_Mutation SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 55515327 55515327 G C SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.46 p.R16G 0.000 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 48 0 0.00 36 14 28.00 VPS13A 0 genome.wustl.edu 37 9 79972696 79972696 + Missense_Mutation SNP T T G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 79972696 79972696 T G SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.7895 p.V2632G 0.998 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 59 0 0.00 63 18 22.22 VPS13A 0 genome.wustl.edu 37 9 79972696 79972696 + Missense_Mutation SNP T T G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 9 79972696 79972696 T G SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.7895 p.V2632G 0.998 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 69 0 0.00 63 18 22.22 VPS13D 0 genome.wustl.edu 37 1 12313875 12313875 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 12313875 12313875 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known nonsense c.661 p.E221* 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 46 0 0.00 50 4 7.41 VPS13D 0 genome.wustl.edu 37 1 12313875 12313875 + Nonsense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 12313875 12313875 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known nonsense c.661 p.E221* 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 54 0 0.00 50 4 7.41 WASF3 0 genome.wustl.edu 37 13 27216440 27216440 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 27216440 27216440 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.33 p.R11 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 51 0 0.00 59 26 30.59 WASF3 0 genome.wustl.edu 37 13 27216440 27216440 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 13 27216440 27216440 G A SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.33 p.R11 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 64 0 0.00 59 26 30.59 WDR36 0 genome.wustl.edu 37 5 110428207 110428207 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 5 110428207 110428207 G T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.221 p.R74L 1.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 tier1 - - 29 0 0.00 38 4 9.52 WDR87 0 genome.wustl.edu 37 19 38383490 38383490 + Silent SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 38383490 38383490 G A SNP WDR87 ENST00000447313 human ensembl 74_37 -1 known silent c.2853 p.Y951 0.999 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 tier1 - - 39 0 0.00 28 12 30.00 ZCCHC8 0 genome.wustl.edu 37 12 122962497 122962497 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 122962497 122962497 C A SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known silent c.1236 p.V412 0.000 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 22 0 0.00 18 3 14.29 ZDHHC16 0 genome.wustl.edu 37 10 99211481 99211481 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 99211481 99211481 C T SNP ZDHHC16 ENST00000370854 human ensembl 74_37 +1 known missense c.49 p.R17C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC16 HGNC ENSG00000171307 tier1 - - 16 0 0.00 17 11 39.29 ZEB2 0 genome.wustl.edu 37 2 145157786 145157786 + Missense_Mutation SNP C C G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 145157786 145157786 C G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.968 p.G323A 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 36 0 0.00 68 6 8.11 ZFPM2 0 genome.wustl.edu 37 8 106815683 106815683 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 8 106815683 106815683 G T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.3373 p.D1125Y 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 20 0 0.00 33 2 5.71 ZMIZ1 0 genome.wustl.edu 37 10 81050766 81050766 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 81050766 81050766 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.591 p.G197 0.998 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 34 0 0.00 60 4 6.25 ZMIZ1 0 genome.wustl.edu 37 10 81050766 81050766 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 10 81050766 81050766 C T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known silent c.591 p.G197 0.998 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 tier1 - - 37 0 0.00 60 4 6.25 ZMYM1 0 genome.wustl.edu 37 1 35579635 35579635 + Missense_Mutation SNP A A G TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 35579635 35579635 A G SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.2204 p.K735R 1.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 39 0 0.00 29 10 25.00 ZMYM3 0 genome.wustl.edu 37 X 70462090 70462090 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 70462090 70462090 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3738 p.T1246 0.998 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 106 0 0.00 84 43 33.86 ZMYM3 0 genome.wustl.edu 37 X 70462090 70462090 + Silent SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 X 70462090 70462090 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3738 p.T1246 0.998 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 131 0 0.00 84 43 33.86 ZNF423 0 genome.wustl.edu 37 16 49670652 49670652 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 49670652 49670652 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2411 p.S804N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 13 0 0.00 14 6 30.00 ZNF423 0 genome.wustl.edu 37 16 49670652 49670652 + Missense_Mutation SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 49670652 49670652 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.2411 p.S804N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 tier1 - - 27 0 0.00 14 6 30.00 ZNF441 0 genome.wustl.edu 37 19 11889180 11889180 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 11889180 11889180 C A SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.166 p.Q56K 0.002 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 ZNF441 HGNC ENSG00000197044 tier1 - - 65 0 0.00 61 26 29.89 ZNF496 0 genome.wustl.edu 37 1 247464284 247464284 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 247464284 247464284 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1409 p.P470L 0.348 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 35 0 0.00 28 11 28.21 ZNF496 0 genome.wustl.edu 37 1 247464284 247464284 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 247464284 247464284 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.1409 p.P470L 0.348 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 - - 43 0 0.00 28 11 28.21 ZNF644 0 genome.wustl.edu 37 1 91487584 91487584 + RNA SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 91487584 91487584 G C SNP ZNF644 ENST00000495966 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 105 0 0.00 86 32 27.12 ZNF644 0 genome.wustl.edu 37 1 91487584 91487584 + RNA SNP G G C TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 1 91487584 91487584 G C SNP ZNF644 ENST00000495966 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 67 0 0.00 86 32 27.12 ZNF664 0 genome.wustl.edu 37 12 124497201 124497201 + Silent SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 12 124497201 124497201 C A SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known silent c.510 p.P170 0.994 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 24 0 0.00 35 4 10.26 ZNF676 0 genome.wustl.edu 37 19 22363008 22363008 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 22363008 22363008 C A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1511 p.R504L 0.515 pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 33 0 0.00 24 2 7.69 ZNF729 0 genome.wustl.edu 37 19 22498307 22498307 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 22498307 22498307 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.2088 p.F696 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 tier1 - - 48 0 0.00 39 9 18.75 ZNF729 0 genome.wustl.edu 37 19 22498307 22498307 + Silent SNP C C T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 22498307 22498307 C T SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel silent c.2088 p.F696 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF729 HGNC ENSG00000196350 tier1 - - 49 0 0.00 39 9 18.75 ZNF784 0 genome.wustl.edu 37 19 56133379 56133379 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56133379 56133379 G A SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known missense c.710 p.S237L 0.797 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 tier1 - - 21 0 0.00 22 9 28.12 ZNF784 0 genome.wustl.edu 37 19 56133379 56133379 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 19 56133379 56133379 G A SNP ZNF784 ENST00000325351 human ensembl 74_37 -1 known missense c.710 p.S237L 0.797 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF784 HGNC ENSG00000179922 tier1 - - 24 0 0.00 22 9 28.12 ZP2 0 genome.wustl.edu 37 16 21212735 21212735 + Missense_Mutation SNP G G T TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 16 21212735 21212735 G T SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.1649 p.T550N 0.003 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 tier1 - - 63 0 0.00 66 4 5.71 ZRANB3 0 genome.wustl.edu 37 2 135960485 135960485 + Missense_Mutation SNP C C A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c1770c-8e08-4a0b-a96f-374b66ca6ddf 1c18afec-20fc-4456-9a04-f65fce56e159 2 135960485 135960485 C A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.3058 p.D1020Y 1.000 pfam_HNH,smart_HNH_nuc pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 23 0 0.00 33 2 5.71