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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val GVINP1 0 genome.wustl.edu 37 11 6739525 6739525 + R SNP T T G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 11 6739525 6739525 T G SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 31 0 0.00 24 8 25.00 90 1 1.10 69 12 14.81 STXBP1 0 genome.wustl.edu 37 9 130438208 130438208 + Missense_Mutation SNP C C G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 130438208 130438208 C G SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.1236 p.I412M 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 61 0 0.00 43 11 20.37 110 0 0.00 84 51 37.78 METTL1 0 genome.wustl.edu 37 12 58163396 58163396 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 58163396 58163396 G A SNP METTL1 ENST00000257848 human ensembl 74_37 -1 known missense c.340 p.H114Y 1.000 NULL NULL - no_errors METTL1 HGNC ENSG00000037897 tier1 - - 39 0 0.00 227 123 35.14 87 0 0.00 495 225 31.21 PRB3 0 genome.wustl.edu 37 12 11420936 11420936 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 11420936 11420936 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.247 p.P83S 0.193 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 tier1 - - 59 0 0.00 125 126 50.00 22 0 0.00 16 19 54.29 WDFY4 0 genome.wustl.edu 37 10 50098744 50098744 + Missense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 10 50098744 50098744 G C SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.7288 p.V2430L 0.998 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 63 0 0.00 63 9 12.50 93 0 0.00 81 18 18.18 USP6 0 genome.wustl.edu 37 17 5072153 5072153 + Missense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 17 5072153 5072153 G C SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.3320 p.S1107T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 79 0 0.00 94 32 25.40 39 0 0.00 26 6 18.75 SLC6A18 0 genome.wustl.edu 37 5 1238115 1238115 + Silent SNP C C G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 1238115 1238115 C G SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.672 p.L224 0.906 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 tier1 - - 53 0 0.00 135 162 54.36 116 0 0.00 168 180 51.72 FSD1L 0 genome.wustl.edu 37 9 108246756 108246756 + Missense_Mutation SNP A A G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 108246756 108246756 A G SNP FSD1L ENST00000539376 human ensembl 74_37 +1 known missense c.88 p.M30V 1.000 superfamily_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD1L HGNC ENSG00000106701 tier1 - - 24 0 0.00 18 19 51.35 83 0 0.00 61 49 44.55 METTL1 0 genome.wustl.edu 37 12 58163174 58163174 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 58163174 58163174 G A SNP METTL1 ENST00000324871 human ensembl 74_37 -1 known missense c.587 p.T196I 1.000 pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase - no_errors METTL1 HGNC ENSG00000037897 tier1 - - 16 0 0.00 99 40 28.78 61 0 0.00 363 210 36.59 POTEA 0 genome.wustl.edu 37 8 43159910 43159910 + R SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 8 43159910 43159910 C T SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.062 - - - no_errors POTEA HGNC ENSG00000188877 tier1 - - 70 0 0.00 252 201 44.37 34 0 0.00 23 10 30.30 RADIL 0 genome.wustl.edu 37 7 4917282 4917282 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 7 4917282 4917282 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.489 p.S163 0.078 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 tier1 - - 81 0 0.00 110 23 17.29 83 0 0.00 47 26 35.62 MAGEB1 0 genome.wustl.edu 37 X 30269613 30269613 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 X 30269613 30269613 C T SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.1003 p.R335C 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 tier1 - - 60 0 0.00 84 18 17.65 111 0 0.00 100 31 23.66 FMNL3 0 genome.wustl.edu 37 12 50042925 50042925 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 50042925 50042925 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.2402 p.S801F 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 tier1 - - 32 0 0.00 62 22 26.19 62 0 0.00 132 45 25.14 ZFP57 0 genome.wustl.edu 37 6 29641137 29641137 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 6 29641137 29641137 G A SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.751 p.R251C 0.825 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 ZFP57 HGNC ENSG00000204644 tier1 - - 60 0 0.00 61 22 26.51 94 0 0.00 102 20 16.39 ARMCX4 0 genome.wustl.edu 37 X 100746403 100746403 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 X 100746403 100746403 G A SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative missense c.2827 p.G943S 0.005 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 36 0 0.00 60 33 35.48 91 0 0.00 78 49 38.58 CEL 0 genome.wustl.edu 37 9 135941960 135941960 + Silent SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 135941960 135941960 G A SNP CEL ENST00000372080 human ensembl 74_37 +1 known silent c.591 p.V197 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 33 0 0.00 42 5 10.64 91 0 0.00 95 17 15.18 SLC18A2 0 genome.wustl.edu 37 10 119014856 119014856 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 10 119014856 119014856 G A SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.769 p.A257T 0.992 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 rs201547103 - 55 0 0.00 46 10 17.54 75 0 0.00 28 4 12.50 MAN1A1 0 genome.wustl.edu 37 6 119514953 119514953 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 6 119514953 119514953 C T SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known missense c.1315 p.D439N 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 tier1 - - 45 0 0.00 246 90 26.79 118 0 0.00 412 127 23.56 ERBB3 0 genome.wustl.edu 37 12 56480358 56480358 + Silent SNP T T G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 56480358 56480358 T G SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known silent c.465 p.L155 0.680 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 49 0 0.00 126 60 32.26 84 0 0.00 93 46 33.09 TBC1D5 0 genome.wustl.edu 37 3 17226625 17226625 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 3 17226625 17226625 C T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.1828 p.A610T 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 87 0 0.00 80 23 22.33 126 0 0.00 87 18 17.14 TRRAP 0 genome.wustl.edu 37 7 98592415 98592415 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 7 98592415 98592415 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.10211 p.A3404V 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 tier1 - - 36 0 0.00 31 5 13.89 23 0 0.00 14 12 46.15 SETD1B 0 genome.wustl.edu 37 12 122247833 122247833 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 122247833 122247833 C T SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known missense c.982 p.H328Y 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 35 0 0.00 129 122 48.61 65 0 0.00 298 254 46.01 ODF3B 0 genome.wustl.edu 37 22 50968892 50968892 + Silent SNP C C A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 22 50968892 50968892 C A SNP ODF3B ENST00000405135 human ensembl 74_37 -1 putative silent c.825 p.A275 0.018 NULL NULL - no_errors ODF3B HGNC ENSG00000177989 tier1 - - 63 0 0.00 43 19 30.65 48 0 0.00 28 9 24.32 GOLGA3 0 genome.wustl.edu 37 12 133384827 133384827 + Missense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 133384827 133384827 G C SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.828 p.N276K 0.880 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 14 0 0.00 27 22 44.90 84 0 0.00 82 63 43.45 STXBP1 0 genome.wustl.edu 37 9 130438121 130438121 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 130438121 130438121 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known silent c.1149 p.I383 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 88 0 0.00 69 19 21.59 111 0 0.00 87 47 35.07 GAREML 0 genome.wustl.edu 37 2 26410287 26410287 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 2 26410287 26410287 G A SNP GAREML ENST00000401533 human ensembl 74_37 +1 known missense c.1786 p.A596T 0.002 NULL superfamily_SAM/pointed - no_errors GAREML HGNC ENSG00000157833 tier1 - - 85 0 0.00 67 14 17.07 59 0 0.00 39 12 23.53 APC5 0 genome.wustl.edu 37 12 121747544 121747544 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 121747544 121747544 C T SNP APC5 ENST00000261819 human ensembl 74_37 -1 known silent c.2016 p.V672 1.000 NULL smart_TPR_repeat - no_errors APC5 HGNC ENSG00000089053 tier1 - - 44 0 0.00 81 172 67.98 28 0 0.00 71 185 71.98 MYO5C 0 genome.wustl.edu 37 15 52571803 52571803 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 15 52571803 52571803 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known silent c.207 p.E69 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 tier1 - - 40 0 0.00 35 4 10.26 63 0 0.00 37 11 22.92 SYK 0 genome.wustl.edu 37 9 93606231 93606231 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 93606231 93606231 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known silent c.51 p.F17 0.814 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 tier1 rs200626943 - 34 0 0.00 30 7 18.92 66 0 0.00 59 7 10.61 CEL 0 genome.wustl.edu 37 9 135944447 135944447 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 135944447 135944447 G A SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1096 p.D366N 0.998 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 31 0 0.00 46 8 14.81 66 0 0.00 64 11 14.67 POTEA 0 genome.wustl.edu 37 8 43159855 43159855 + R SNP C C G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 8 43159855 43159855 C G SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors POTEA HGNC ENSG00000188877 tier1 - - 70 0 0.00 202 166 44.99 34 0 0.00 22 7 24.14 USP48 0 genome.wustl.edu 37 1 22073626 22073626 + Nonsense_Mutation SNP T T A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 1 22073626 22073626 T A SNP USP48 ENST00000308271 human ensembl 74_37 -1 known nonsense c.925 p.K309* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 - - 42 0 0.00 29 5 14.71 108 0 0.00 67 20 22.99 SETD1B 0 genome.wustl.edu 37 12 122247621 122247621 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 122247621 122247621 C T SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known missense c.770 p.A257V 1.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 78 0 0.00 410 325 44.04 84 0 0.00 372 343 47.97 IVL 0 genome.wustl.edu 37 1 152883175 152883175 + Missense_Mutation SNP A A T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 1 152883175 152883175 A T SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.902 p.K301M 0.017 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 55 0 0.00 71 29 29.00 16 0 0.00 17 9 34.62 SLC6A18 0 genome.wustl.edu 37 5 1238154 1238154 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 1238154 1238154 C T SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.711 p.L237 0.000 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 SLC6A18 HGNC ENSG00000164363 tier1 - - 58 0 0.00 139 162 53.82 104 0 0.00 166 147 46.96 C9orf96 0 genome.wustl.edu 37 9 136270458 136270458 + Silent SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 136270458 136270458 G A SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known silent c.1956 p.V652 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors C9orf96 HGNC ENSG00000198870 tier1 - - 19 0 0.00 17 6 26.09 41 0 0.00 29 5 14.71 CMSS1 0 genome.wustl.edu 37 3 99891167 99891167 + Missense_Mutation SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 3 99891167 99891167 C T SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.587 p.A196V 0.993 pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 tier1 - - 32 0 0.00 61 10 14.08 69 0 0.00 52 7 11.86 PDE8B 0 genome.wustl.edu 37 5 76709035 76709035 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 76709035 76709035 C T SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known silent c.1812 p.I604 0.456 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 tier1 - - 55 0 0.00 73 20 21.51 118 0 0.00 90 26 22.41 STXBP1 0 genome.wustl.edu 37 9 130438152 130438152 + Silent SNP C C T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 130438152 130438152 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known silent c.1180 p.L394 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 tier1 - - 80 0 0.00 64 17 20.99 109 0 0.00 100 52 34.21 PIK3R4 0 genome.wustl.edu 37 3 130398323 130398323 + Missense_Mutation SNP G G T TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 3 130398323 130398323 G T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.3913 p.Q1305K 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 tier1 - - 11 0 0.00 15 5 25.00 77 0 0.00 78 31 28.44 FOXI1 0 genome.wustl.edu 37 5 169533511 169533511 + Missense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 169533511 169533511 G C SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.550 p.V184L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 tier1 - - 73 0 0.00 136 29 17.58 53 0 0.00 31 14 31.11 WDFY4 0 genome.wustl.edu 37 10 50098739 50098743 + Frame_Shift_Del DEL GTGAT GTGAT - TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 GTGAT GTGAT GTGAT - GTGAT GTGAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 10 50098739 50098743 GTGAT - DEL WDFY4 ENST00000325239 human ensembl 74_37 +1 known frame_shift_del c.7283_7287 p.D2429fs 0.966:0.949:0.993:0.993:0.972 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 92 0 0.00 85 18 17.48 92 0 0.00 85 18 17.48 LPCAT2 0 genome.wustl.edu 37 16 55584939 55584939 + Frame_Shift_Del DEL A A - TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 16 55584939 55584939 A - DEL LPCAT2 ENST00000262134 human ensembl 74_37 +1 known frame_shift_del c.1140 p.I381fs 1.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 tier1 72 0 0.00 100 15 13.04 105 0 0.00 84 18 17.65 TTC37 0 genome.wustl.edu 37 5 94803639 94803640 + Frame_Shift_Del DEL AG AG - TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 94803639 94803640 AG - DEL TTC37 ENST00000358746 human ensembl 74_37 -1 known frame_shift_del c.4551_4550 p.S1517fs 1.000:1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 33 0 0.00 30 5 14.29 123 0 0.00 61 15 19.74 METTL1 0 genome.wustl.edu 37 12 58163564 58163564 + Nonsense_Mutation SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 58163564 58163564 G C SNP METTL1 ENST00000324871 human ensembl 74_37 -1 known nonsense c.450 p.Y150* 0.123 pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase - no_errors METTL1 HGNC ENSG00000037897 tier1 - - 50 0 0.00 267 49 15.51 121 0 0.00 589 53 8.24 KRT10 0 genome.wustl.edu 37 17 38978609 38978609 + Silent SNP A A G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 17 38978609 38978609 A G SNP KRT10 ENST00000269576 human ensembl 74_37 -1 known silent c.229 p.L77 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT10 HGNC ENSG00000186395 tier1 - - 60 0 0.00 63 13 17.11 70 0 0.00 76 8 9.41 PCDHGA4 0 genome.wustl.edu 37 5 140735522 140735522 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 5 140735522 140735522 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.755 p.R252H 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 32 0 0.00 26 5 16.13 121 1 0.82 78 8 9.30 PRPF40B 0 genome.wustl.edu 37 12 50036712 50036712 + Splice_Site SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 50036712 50036712 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known splice_site c.2119-1 e22-1 1.000 - - - no_errors PRPF40B HGNC ENSG00000110844 tier1 - - 36 0 0.00 103 11 9.65 102 0 0.00 329 13 3.79 METTL1 0 genome.wustl.edu 37 12 58163566 58163566 + Missense_Mutation SNP A A G TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 58163566 58163566 A G SNP METTL1 ENST00000324871 human ensembl 74_37 -1 known missense c.448 p.Y150H 0.286 pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase pfam_tR_(Gua-N-7)_MeTrfase,tigrfam_tR_(Gua-N-7)_MeTrfase - no_errors METTL1 HGNC ENSG00000037897 tier1 - - 54 0 0.00 273 44 13.88 117 0 0.00 576 49 7.83 CCDC53 0 genome.wustl.edu 37 12 102419810 102419810 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 102419810 102419810 G A SNP CCDC53 ENST00000240079 human ensembl 74_37 -1 known missense c.442 p.P148S 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC ENSG00000120860 tier1 - - 44 0 0.00 676 76 10.11 52 0 0.00 529 47 8.16 C9orf96 0 genome.wustl.edu 37 9 136269043 136269043 + Splice_Site SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 9 136269043 136269043 G C SNP C9orf96 ENST00000371957 human ensembl 74_37 +1 known splice_site c.1604-1 e16-1 1.000 - - - no_errors C9orf96 HGNC ENSG00000198870 tier1 - - 51 0 0.00 34 4 10.53 9 0 0.00 3 1 25.00 DNM1P47 0 genome.wustl.edu 37 15 102299838 102299838 + R SNP G G C TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 15 102299838 102299838 G C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 31 0 0.00 64 7 9.86 0 0 0.00 0 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 7850 7850 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 MT 7850 7850 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.265 p.E89K NULL superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 319 0 0.00 833 97 10.43 0 0 0.00 0 0 0.00 MT-ND5 0 genome.wustl.edu 37 MT 13471 13471 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 MT 13471 13471 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1135 p.A379T NULL pfam_DH_UbQ/plastoQ_OxRdtase,tigrfam_DHpl_OxRdtase_5 pfam_DH_UbQ/plastoQ_OxRdtase,pfam_DH_DH_su5_C,pfam_DH_UbQ_OxRdtase_chain5/L_N,tigrfam_DHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 25 0 0.00 45 9 16.67 0 0 0.00 0 0 0.00 KCNH3 0 genome.wustl.edu 37 12 49948143 49948143 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 49948143 49948143 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1942 p.E648K 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 73 0 0.00 149 15 9.15 25 0 0.00 66 3 4.35 KCNH3 0 genome.wustl.edu 37 12 49948321 49948321 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 49948321 49948321 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.2120 p.G707E 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 44 0 0.00 97 9 8.49 29 0 0.00 63 2 3.08 KRT16 0 genome.wustl.edu 37 17 39766252 39766252 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 17 39766252 39766252 G A SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.1357 p.R453C 0.003 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 tier1 - - 81 0 0.00 93 23 19.83 16 0 0.00 22 2 8.33 KCNH3 0 genome.wustl.edu 37 12 49948322 49948322 + Silent SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 49948322 49948322 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.2121 p.G707 0.014 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 44 0 0.00 96 9 8.57 28 0 0.00 63 2 3.08 KCNH3 0 genome.wustl.edu 37 12 49948182 49948182 + Missense_Mutation SNP G G A TCGA-DX-A3LS-01A-11D-A21Q-09 TCGA-DX-A3LS-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 075fc96d-6742-4ef3-9369-482592ad3a2f dc2e1f2d-585d-4dab-9bb2-aee31ee5b436 12 49948182 49948182 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1981 p.D661N 0.478 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 tier1 - - 69 0 0.00 147 19 11.45 30 0 0.00 73 3 3.95