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 AMPH 0 genome.wustl.edu 37 7 38530700 38530700 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 7 38530700 38530700 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.346 p.G116R 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 186 0 0.00 136 31 18.45 ANK1 0 genome.wustl.edu 37 8 41554025 41554025 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 41554025 41554025 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.2816 p.P939L 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 56 0 0.00 49 8 14.04 ARID4B 0 genome.wustl.edu 37 1 235359426 235359426 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 235359426 235359426 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.1846 p.D616N 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Tudor pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 91 0 0.00 73 18 19.78 ASUN 0 genome.wustl.edu 37 12 27078742 27078742 + Silent SNP G G C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 27078742 27078742 G C SNP ASUN ENST00000261191 human ensembl 74_37 -1 known silent c.627 p.T209 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 tier1 - - 73 0 0.00 69 6 8.00 AZI2 0 genome.wustl.edu 37 3 28365808 28365808 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 3 28365808 28365808 G A SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known missense c.904 p.P302S 0.303 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 115 0 0.00 82 19 18.81 C1S 0 genome.wustl.edu 37 12 7172542 7172542 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 7172542 7172542 G A SNP C1S ENST00000328916 human ensembl 74_37 +1 known missense c.656 p.R219Q 0.007 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1S HGNC ENSG00000182326 tier1 rs147341600 - 44 0 0.00 47 14 22.95 CACNG3 0 genome.wustl.edu 37 16 24358121 24358121 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 24358121 24358121 C A SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.278 p.T93K 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 tier1 - - 45 0 0.00 33 6 15.38 CCDC138 0 genome.wustl.edu 37 2 109492579 109492579 + Missense_Mutation SNP A A G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 109492579 109492579 A G SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.1868 p.H623R 0.998 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 40 0 0.00 38 4 9.52 CD1D 0 genome.wustl.edu 37 1 158151833 158151833 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 158151833 158151833 C A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.340 p.L114I 0.036 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 151 0 0.00 107 6 5.31 CD2 0 genome.wustl.edu 37 1 117297370 117297370 + Frame_Shift_Del DEL A A - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 117297370 117297370 A - DEL CD2 ENST00000369478 human ensembl 74_37 +1 known frame_shift_del c.179 p.T62fs 0.000 pfam_Ig_V-set pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2 - no_errors CD2 HGNC ENSG00000116824 tier1 41 0 0.00 28 11 28.21 CDH1 0 genome.wustl.edu 37 16 68842633 68842633 + Missense_Mutation SNP A A G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 68842633 68842633 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.569 p.Y190C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 67 0 0.00 48 17 26.15 CDH12 0 genome.wustl.edu 37 5 21842426 21842426 + Missense_Mutation SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 21842426 21842426 T C SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.658 p.T220A 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 CDH12 HGNC ENSG00000154162 tier1 - - 56 0 0.00 31 9 22.50 CEMP1 0 genome.wustl.edu 37 16 2580834 2580834 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 2580834 2580834 G A SNP CEMP1 ENST00000382350 human ensembl 74_37 -1 known missense c.241 p.R81C 0.000 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 tier1 - - 49 0 0.00 22 5 18.52 CHD1L 0 genome.wustl.edu 37 1 146726622 146726622 + Missense_Mutation SNP A A T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 146726622 146726622 A T SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.338 p.E113V 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 tier1 - - 94 0 0.00 58 6 9.38 CHD3 0 genome.wustl.edu 37 17 7801857 7801859 + In_Frame_Del DEL AAG AAG - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 17 7801857 7801859 AAG - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known in_frame_del c.2095_2097 p.K702in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 tier1 37 0 0.00 21 3 12.50 CHD9 0 genome.wustl.edu 37 16 53276863 53276863 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 53276863 53276863 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.2989 p.D997N 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 tier1 - - 118 0 0.00 85 13 13.27 CNKSR3 0 genome.wustl.edu 37 6 154732218 154732218 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 154732218 154732218 C A SNP CNKSR3 ENST00000607772 human ensembl 74_37 -1 known missense c.1129 p.G377C 0.514 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM - no_errors CNKSR3 HGNC ENSG00000153721 tier1 - - 66 0 0.00 44 6 12.00 COL4A2 0 genome.wustl.edu 37 13 111088642 111088642 + Silent SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 13 111088642 111088642 C T SNP COL4A2 ENST00000360467 human ensembl 74_37 +1 known silent c.753 p.N251 0.377 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 tier1 - - 67 0 0.00 46 5 9.80 CRMP1 0 genome.wustl.edu 37 4 5862882 5862882 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 4 5862882 5862882 C A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.526 p.G176W 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 180 0 0.00 126 30 19.23 CSMD3 0 genome.wustl.edu 37 8 113267523 113267523 + Silent SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 113267523 113267523 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.9996 p.Q3332 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 CSMD3 HGNC ENSG00000164796 tier1 - - 64 0 0.00 59 4 6.35 CSMD3 0 genome.wustl.edu 37 8 113599332 113599332 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 113599332 113599332 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.3848 p.A1283D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 CSMD3 HGNC ENSG00000164796 tier1 - - 57 0 0.00 43 11 20.37 CSMD3 0 genome.wustl.edu 37 8 114389010 114389010 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 114389010 114389010 G T SNP CSMD3 ENST00000343508 human ensembl 74_37 -1 known missense c.15 p.F5L 0.992 NULL 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 CSMD3 HGNC ENSG00000164796 tier1 - - 72 0 0.00 78 11 12.36 DCAF11 0 genome.wustl.edu 37 14 24584818 24584818 + Silent SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 14 24584818 24584818 C T SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known silent c.15 p.N5 0.985 pirsf_WD_repeat_p23 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 tier1 - - 84 0 0.00 59 12 16.90 DIAPH3 0 genome.wustl.edu 37 13 60707105 60707105 + Silent SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 13 60707105 60707105 G A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known silent c.199 p.L67 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 tier1 - - 52 0 0.00 29 9 23.68 DMD 0 genome.wustl.edu 37 X 32305763 32305763 + Missense_Mutation SNP T T G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 X 32305763 32305763 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6173 p.K2058T 0.981 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 39 0 0.00 22 9 29.03 DNAH5 0 genome.wustl.edu 37 5 13719037 13719037 + Silent SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 13719037 13719037 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.12453 p.N4151 0.905 pfam_Dynein_heavy_dom 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 - - 79 0 0.00 74 11 12.94 DNAJC24 0 genome.wustl.edu 37 11 31447909 31447909 + RNA DEL T T - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 11 31447909 31447909 T - DEL DNAJC24 ENST00000524747 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DNAJC24 HGNC ENSG00000170946 tier1 41 0 0.00 26 4 13.33 DNMT3A 0 genome.wustl.edu 37 2 25505422 25505422 + Silent SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 25505422 25505422 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known silent c.336 p.G112 0.998 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 tier1 - - 60 0 0.00 42 6 12.50 DOCK2 0 genome.wustl.edu 37 5 169504759 169504759 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 169504759 169504759 C T SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4912 p.R1638C 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 50 0 0.00 34 4 10.53 DYRK1A 0 genome.wustl.edu 37 21 38878411 38878411 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 21 38878411 38878411 C T SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.1556 p.S519L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 tier1 - - 26 0 0.00 24 4 14.29 ENSG00000267784 0 genome.wustl.edu 37 2 179588956 179588956 + RNA DEL T T - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 179588956 179588956 T - DEL ENSG00000267784 ENST00000590024 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-171I2.1 Clone_based_vega_gene ENSG00000267784 tier1 27 0 0.00 18 4 18.18 ERLEC1 0 genome.wustl.edu 37 2 54035494 54035494 + Missense_Mutation SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 54035494 54035494 T C SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.938 p.I313T 0.981 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 tier1 - - 67 0 0.00 68 9 11.69 ERVFRD-1 0 genome.wustl.edu 37 6 11105167 11105167 + Missense_Mutation SNP C C G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 11105167 11105167 C G SNP ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known missense c.377 p.C126S 0.277 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 tier1 - - 200 0 0.00 125 23 15.54 FAM19A2 0 genome.wustl.edu 37 12 62147467 62147467 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 62147467 62147467 C A SNP FAM19A2 ENST00000416284 human ensembl 74_37 -1 known missense c.320 p.C107F 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A2 HGNC ENSG00000198673 tier1 - - 114 0 0.00 62 15 19.48 FASTKD5 0 genome.wustl.edu 37 20 3128560 3128560 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 20 3128560 3128560 G A SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known missense c.1157 p.P386L 0.998 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 63 0 0.00 49 4 7.55 FCRL5 0 genome.wustl.edu 37 1 157514644 157514644 + Missense_Mutation SNP T T A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 157514644 157514644 T A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.536 p.N179I 0.655 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 164 0 0.00 127 14 9.93 FGF12 0 genome.wustl.edu 37 3 191888296 191888296 + Silent SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 3 191888296 191888296 T C SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known silent c.564 p.R188 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam 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 - - 132 0 0.00 138 13 8.61 FKBP9 0 genome.wustl.edu 37 7 33020083 33020084 + Frame_Shift_Del DEL TG TG - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 7 33020083 33020084 TG - DEL FKBP9 ENST00000538336 human ensembl 74_37 +1 known frame_shift_del c.970_971 p.C324fs 1.000:1.000 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 tier1 167 0 0.00 115 15 11.54 GABRA1 0 genome.wustl.edu 37 5 161302600 161302600 + Nonsense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 161302600 161302600 G T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known nonsense c.511 p.E171* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 tier1 - - 159 0 0.00 108 7 6.09 GCM2 0 genome.wustl.edu 37 6 10881981 10881981 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 10881981 10881981 C T SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.46 p.G16R 0.998 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 tier1 - - 42 0 0.00 36 7 16.28 GPR113 0 genome.wustl.edu 37 2 26536714 26536714 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 26536714 26536714 G T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.593 p.P198Q 0.986 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 52 0 0.00 32 8 20.00 GPR98 0 genome.wustl.edu 37 5 90086866 90086866 + Silent SNP A A T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 90086866 90086866 A T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.14220 p.G4740 0.995 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 40 0 0.00 39 4 9.30 GREB1 0 genome.wustl.edu 37 2 11706633 11706633 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 11706633 11706633 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.305 p.R102H 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 48 0 0.00 28 8 22.22 GTF2IRD2P1 0 genome.wustl.edu 37 7 72658326 72658326 + RNA SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 7 72658326 72658326 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.695 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 53 0 0.00 39 6 13.33 HAO2 0 genome.wustl.edu 37 1 119936417 119936417 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 119936417 119936417 C T SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known missense c.1049 p.S350L 0.931 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 tier1 - - 192 0 0.00 166 15 8.29 ITFG1 0 genome.wustl.edu 37 16 47292606 47292606 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 47292606 47292606 C T SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1267 p.D423N 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 tier1 - - 21 0 0.00 27 5 15.62 KATNA1 0 genome.wustl.edu 37 6 149924461 149924461 + Silent SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 149924461 149924461 G A SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known silent c.672 p.A224 0.013 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 tier1 - - 78 0 0.00 50 8 13.79 LINC00696 0 genome.wustl.edu 37 3 52097353 52097353 + Missense_Mutation SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 3 52097353 52097353 T C SNP LINC00696 ENST00000541313 human ensembl 74_37 -1 known missense c.215 p.Y72C 0.013 NULL NULL - no_errors LINC00696 HGNC ENSG00000256097 tier1 - - 107 0 0.00 59 18 23.38 LMO3 0 genome.wustl.edu 37 12 16713406 16713406 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 16713406 16713406 C T SNP LMO3 ENST00000541295 human ensembl 74_37 -1 known missense c.327 p.M109I 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO3 HGNC ENSG00000048540 tier1 - - 68 0 0.00 51 7 12.07 LRP12 0 genome.wustl.edu 37 8 105503447 105503447 + Missense_Mutation SNP T T G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 105503447 105503447 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1977 p.K659N 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 35 0 0.00 33 12 26.67 MAMLD1 0 genome.wustl.edu 37 X 149639633 149639635 + In_Frame_Del DEL GCA GCA - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 X 149639633 149639635 GCA - DEL MAMLD1 ENST00000432680 human ensembl 74_37 +1 known in_frame_del c.1713_1715 p.Q575in_frame_del 0.997:1.000:0.996 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 46 0 0.00 33 5 13.16 MAP2 0 genome.wustl.edu 37 2 210559207 210559207 + Missense_Mutation SNP A A C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 210559207 210559207 A C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2313 p.K771N 0.098 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 68 0 0.00 50 5 9.09 MROH2B 0 genome.wustl.edu 37 5 41048497 41048497 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 41048497 41048497 G T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1613 p.P538H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 50 0 0.00 50 7 12.28 NAV3 0 genome.wustl.edu 37 12 78531043 78531043 + Missense_Mutation SNP G G C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 78531043 78531043 G C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4528 p.D1510H 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 63 0 0.00 60 7 10.45 NCKAP5 0 genome.wustl.edu 37 2 133540639 133540639 + Nonsense_Mutation SNP T T A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 133540639 133540639 T A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known nonsense c.3745 p.R1249* 0.079 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 121 0 0.00 82 7 7.87 NELFCD 0 genome.wustl.edu 37 20 57568760 57568760 + Nonsense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 20 57568760 57568760 C T SNP NELFCD ENST00000602795 human ensembl 74_37 +1 known nonsense c.1576 p.R526* 1.000 pfam_TH1 pfam_TH1 - no_errors NELFCD HGNC ENSG00000101158 tier1 - - 128 0 0.00 109 17 13.49 NIPBL 0 genome.wustl.edu 37 5 37000674 37000674 + Splice_Site SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 37000674 37000674 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known splice_site c.3502+2 e11+2 1.000 - - - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 70 0 0.00 40 29 42.03 NLRP5 0 genome.wustl.edu 37 19 56515244 56515244 + Missense_Mutation SNP A A C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 19 56515244 56515244 A C SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.225 p.E75D 0.003 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP5 HGNC ENSG00000171487 tier1 - - 80 0 0.00 53 6 10.17 NUDT10 0 genome.wustl.edu 37 X 51075841 51075841 + Silent SNP A A G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 X 51075841 51075841 A G SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.24 p.T8 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 tier1 rs2625875 - 8 0 0.00 9 8 47.06 OR10J3 0 genome.wustl.edu 37 1 159284373 159284373 + Missense_Mutation SNP A A G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 159284373 159284373 A G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.77 p.L26P 0.093 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 tier1 - - 160 0 0.00 106 20 15.87 OR13C8 0 genome.wustl.edu 37 9 107332409 107332409 + Nonstop_Mutation SNP T T G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 9 107332409 107332409 T G SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known nonstop c.961 p.*321G 0.004 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C8 HGNC ENSG00000186943 tier1 - - 42 0 0.00 31 11 26.19 OR5D16 0 genome.wustl.edu 37 11 55606937 55606937 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 11 55606937 55606937 G A SNP OR5D16 ENST00000378396 human ensembl 74_37 +1 known missense c.710 p.R237H 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D16 HGNC ENSG00000205029 tier1 rs148616685 - 69 0 0.00 30 9 23.08 OSBP 0 genome.wustl.edu 37 11 59345691 59345691 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 11 59345691 59345691 C T SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.1991 p.G664D 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 tier1 - - 126 0 0.00 90 8 8.16 OVCH1 0 genome.wustl.edu 37 12 29648364 29648364 + Missense_Mutation SNP G G C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 12 29648364 29648364 G C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.308 p.T103S 0.161 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 37 0 0.00 38 10 20.83 PAX5 0 genome.wustl.edu 37 9 37020768 37020768 + Missense_Mutation SNP A A C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 9 37020768 37020768 A C SNP PAX5 ENST00000358127 human ensembl 74_37 -1 known missense c.77 p.V26G 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX5 HGNC ENSG00000196092 tier1 - - 92 0 0.00 86 9 9.47 PCLO 0 genome.wustl.edu 37 7 82763850 82763850 + Nonsense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 7 82763850 82763850 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.3016 p.E1006* 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 39 0 0.00 32 13 28.89 PDCD11 0 genome.wustl.edu 37 10 105203066 105203066 + Missense_Mutation SNP C C G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 10 105203066 105203066 C G SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.5100 p.I1700M 1.000 smart_HAT,pfscan_TPR-contain_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 44 0 0.00 29 3 9.09 PGAP1 0 genome.wustl.edu 37 2 197705990 197705990 + Missense_Mutation SNP G G C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 197705990 197705990 G C SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.2737 p.L913V 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 52 0 0.00 51 9 15.00 PRR16 0 genome.wustl.edu 37 5 120021909 120021909 + Silent SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 120021909 120021909 G T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known silent c.420 p.V140 0.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 tier1 - - 72 0 0.00 30 5 14.29 RAB11FIP5 0 genome.wustl.edu 37 2 73315487 73315487 + Missense_Mutation SNP G G C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 73315487 73315487 G C SNP RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known missense c.1259 p.P420R 0.349 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 tier1 - - 72 0 0.00 50 7 12.28 RB1CC1 0 genome.wustl.edu 37 8 53570276 53570276 + Missense_Mutation SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 8 53570276 53570276 T C SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known missense c.2113 p.I705V 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 tier1 - - 66 0 0.00 54 6 10.00 RGAG1 0 genome.wustl.edu 37 X 109696365 109696365 + Silent SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 X 109696365 109696365 C A SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.2520 p.P840 0.002 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 tier1 - - 82 0 0.00 54 32 37.21 ROS1 0 genome.wustl.edu 37 6 117683833 117683833 + Missense_Mutation SNP T T A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 117683833 117683833 T A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.3314 p.N1105I 0.239 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 57 0 0.00 53 4 7.02 RPS12 0 genome.wustl.edu 37 6 133138134 133138134 + Silent SNP C C G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 133138134 133138134 C G SNP RPS12 ENST00000230050 human ensembl 74_37 +1 known silent c.270 p.G90 0.998 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e - no_errors RPS12 HGNC ENSG00000112306 tier1 rs146638149 - 75 0 0.00 32 6 15.79 RPS12 0 genome.wustl.edu 37 6 133138137 133138137 + Silent SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 133138137 133138137 T C SNP RPS12 ENST00000230050 human ensembl 74_37 +1 known silent c.273 p.L91 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e - no_errors RPS12 HGNC ENSG00000112306 tier1 rs141181702 - 74 0 0.00 33 6 15.38 RPS12 0 genome.wustl.edu 37 6 133138146 133138146 + Silent SNP T T C TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 133138146 133138146 T C SNP RPS12 ENST00000230050 human ensembl 74_37 +1 known silent c.282 p.I94 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_S12e - no_errors RPS12 HGNC ENSG00000112306 tier1 - - 73 0 0.00 36 6 14.29 RPS9 0 genome.wustl.edu 37 19 54710193 54710193 + Silent SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 19 54710193 54710193 C T SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known silent c.270 p.G90 1.000 pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 tier1 - - 41 0 0.00 34 4 10.53 RYR2 0 genome.wustl.edu 37 1 237729890 237729890 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 237729890 237729890 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3232 p.G1078S 0.969 pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 37 0 0.00 27 4 12.90 SAP30BP 0 genome.wustl.edu 37 17 73702444 73702446 + In_Frame_Del DEL GGG GGG - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 GGG GGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 17 73702444 73702446 GGG - DEL SAP30BP ENST00000584667 human ensembl 74_37 +1 known in_frame_del c.770_772 p.WD257in_frame_delY 1.000:1.000:1.000 NULL pfam_SAP30BP - no_errors SAP30BP HGNC ENSG00000161526 tier1 138 0 0.00 53 10 15.87 SCARNA5 0 genome.wustl.edu 37 2 234184414 234184414 + RNA SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 234184414 234184414 C T SNP SCARNA5 ENST00000516201 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCARNA5 HGNC ENSG00000252010 tier1 - - 195 0 0.00 136 17 11.11 SH3TC2 0 genome.wustl.edu 37 5 148392216 148392216 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 148392216 148392216 C A SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.3135 p.E1045D 1.000 smart_TPR_repeat pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 - - 30 0 0.00 32 5 13.51 SI 0 genome.wustl.edu 37 3 164735436 164735436 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 3 164735436 164735436 G A SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.3659 p.A1220V 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 tier1 - - 56 0 0.00 36 10 21.74 SLC12A3 0 genome.wustl.edu 37 16 56918074 56918074 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 16 56918074 56918074 G A SNP SLC12A3 ENST00000438926 human ensembl 74_37 +1 known missense c.1783 p.V595M 0.788 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 tier1 rs201432183 - 54 0 0.00 27 5 15.62 SLC12A7 0 genome.wustl.edu 37 5 1083880 1083880 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 1083880 1083880 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1109 p.A370V 0.822 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 tier1 - - 34 0 0.00 39 6 13.33 SLC2A9 0 genome.wustl.edu 37 4 9909897 9909897 + Missense_Mutation SNP T T G TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 4 9909897 9909897 T G SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known missense c.1075 p.S359R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 tier1 - - 68 0 0.00 62 5 7.46 SMARCE1 0 genome.wustl.edu 37 17 38788581 38788581 + Missense_Mutation SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 17 38788581 38788581 C T SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.580 p.A194T 0.997 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 69 0 0.00 41 4 8.89 SNX18 0 genome.wustl.edu 37 5 53815310 53815310 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 53815310 53815310 C A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1528 p.Q510K 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 tier1 - - 60 0 0.00 53 8 13.11 STXBP5 0 genome.wustl.edu 37 6 147636830 147636830 + Missense_Mutation SNP T T A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 6 147636830 147636830 T A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1582 p.Y528N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 94 0 0.00 77 16 17.20 TACC2 0 genome.wustl.edu 37 10 123844802 123844803 + Frame_Shift_Del DEL AG AG - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 10 123844802 123844803 AG - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.2787_2788 p.E930fs 0.000:0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 85 0 0.00 41 10 19.61 TAS1R2 0 genome.wustl.edu 37 1 19166576 19166576 + Silent SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 19166576 19166576 G A SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.2037 p.Y679 0.090 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 140 0 0.00 100 8 7.41 TENM2 0 genome.wustl.edu 37 5 167420138 167420138 + Silent SNP C C T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 167420138 167420138 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.1137 p.S379 0.008 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 54 0 0.00 60 5 7.69 TPX2 0 genome.wustl.edu 37 20 30381793 30381795 + In_Frame_Del DEL AGG AGG - TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 20 30381793 30381795 AGG - DEL TPX2 ENST00000340513 human ensembl 74_37 +1 known in_frame_del c.1760_1762 p.E588in_frame_del 1.000:1.000:1.000 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 62 0 0.00 38 11 22.45 TRAF3IP3 0 genome.wustl.edu 37 1 209948708 209948708 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 1 209948708 209948708 G T SNP TRAF3IP3 ENST00000367024 human ensembl 74_37 +1 known missense c.789 p.W263C 0.999 NULL NULL - no_errors TRAF3IP3 HGNC ENSG00000009790 tier1 - - 13 0 0.00 10 4 28.57 TSSK1B 0 genome.wustl.edu 37 5 112770403 112770403 + Missense_Mutation SNP C C A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 5 112770403 112770403 C A SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.134 p.R45L 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 tier1 - - 56 0 0.00 30 7 18.92 UBTD1 0 genome.wustl.edu 37 10 99330169 99330169 + Missense_Mutation SNP G G T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 10 99330169 99330169 G T SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.573 p.W191C 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 tier1 - - 25 0 0.00 18 4 18.18 VWA3B 0 genome.wustl.edu 37 2 98797598 98797598 + Missense_Mutation SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 2 98797598 98797598 G A SNP VWA3B ENST00000477737 human ensembl 74_37 +1 known missense c.1234 p.D412N 1.000 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC ENSG00000168658 tier1 - - 99 0 0.00 59 6 9.23 WDR72 0 genome.wustl.edu 37 15 53809859 53809859 + RNA SNP A A T TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 15 53809859 53809859 A T SNP WDR72 ENST00000567224 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 53 0 0.00 28 13 31.71 XIST 0 genome.wustl.edu 37 X 73062518 73062518 + RNA SNP G G A TCGA-FP-A8CX-01A-11D-A364-08 TCGA-FP-A8CX-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ab3c2441-acc1-4eb1-8108-ea8739fa6f10 b5d313b7-5b47-4093-a940-e6079e45a9c6 X 73062518 73062518 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 27 0 0.00 15 7 31.82