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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values ACHILLES_Lineage_Results_Top_Genes CGC_CancerGermlineMut CGC_CancerMolecularGenetics CGC_CancerSomaticMut CGC_CancerSyndrome CGC_Chr CGC_ChrBand CGC_GeneID CGC_Name CGC_OtherGermlineMut CGC_TissueType COSMIC_n_overlapping_mutations COSMIC_overlapping_mutation_descriptions ClinVar_ASSEMBLY ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_rs Ensembl_so_accession Ensembl_so_term Familial_Cancer_Genes_Reference Familial_Cancer_Genes_Synonym annotation_transcript bcgsc broad build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon entrez_gene_id external_id_capture gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript hgsc igv_bad ucsc t_alt_count t_ref_count n_alt_count n_ref_count validation_judgement_rna validation_power_rna validation_tumor_alt_count_rna validation_tumor_ref_count_rna validation_normal_alt_count_rna validation_normal_ref_count_rna min_val_count_rna validation_judgement_targeted validation_power_targeted validation_tumor_alt_count_targeted validation_tumor_ref_count_targeted validation_normal_alt_count_targeted validation_normal_ref_count_targeted min_val_count_targeted validation_judgement_localAssembly validation_power_localAssembly t_alt_count_localAssembly t_ref_count_localAssembly n_alt_count_localAssembly n_ref_count_localAssembly min_val_count_localAssembly validation_judgement_KRAS validation_power_KRAS t_alt_count_KRAS t_ref_count_KRAS n_alt_count_KRAS n_ref_count_KRAS min_val_count_KRAS pon_loglike pon_pass_loglike localAssembly_detected ExAC_AN ExAC_AC ExAC_LQ passExAC SCNA_NA SCNA_NB SCNA_q_hat SCNA_tau IS_SCNA purity ploidy dna_fraction_in_tumor CCF_hat CCF_CI95_low CCF_CI95_high CCF_mode CCF_mean CCF_median clonal CCF_CI_low CCF_CI_high PRTFDC1 56952 broad.mit.edu 37 10 25226219 25226219 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:25226219delC ENST00000320152.6 - 3 261 c.233delG c.(232-234)ggtfs p.G78fs PRTFDC1_ENST00000376376.3_Frame_Shift_Del_p.G78fs|PRTFDC1_ENST00000376378.1_Frame_Shift_Del_p.G78fs NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 9 GAATTTGTAACCTCCTTTAAG 0.378000 0 SO:0001589 frameshift_variant ENST00000320152.6 1 1 hg19 CCDS7145.1 TCGA-HZ-A8P0-01A-11D-A36O-08 PRTFDC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047243.2 1 0 0 79 312 0 96 1 9.175640e-01 3 16 0 96 2 0 0 0 0 1 1.000000 83 310 2 96 20 0 0 0 0 0 0 -3.323268 1 1 0 0 1 0 1 1 1.612117 1 0.380000 1.960000 0.234568 0.840000 6.900000e-01 0.980000 0.850000 0.850073 0.840000 0 7.600000e-01 9.300000e-01 MUC6 4588 broad.mit.edu 37 11 1025891 1025892 + Frame_Shift_Ins INS - - T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 - T - - Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:1025891_1025892insT ENST00000421673.2 - 22 2762_2763 c.2712_2713insA c.(2710-2715)tcacagfs p.Q905fs NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) AAGGTGGGCTGTGAGTCGTTGA 0.658000 0 SO:0001589 frameshift_variant ENST00000421673.2 0 1 hg19 CCDS44513.1 TCGA-HZ-A8P0-01A-11D-A36O-08 MUC6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382120.2 1 0 0 15 116 0 31 0 9.999623e-01 0 147 0 31 2 0 0 0 0 1 0.999910 15 117 0 32 2 0 0 0 0 0 0 -19.999290 1 1 0 0 1 1 2 3 2.036293 0 0.380000 1.960000 0.385835 0.620000 3.600000e-01 1.000000 0.600000 0.644657 0.620000 0 4.800000e-01 8.000000e-01 STK11 6794 broad.mit.edu 37 19 1207092 1207092 + Frame_Shift_Del DEL C C - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C - C C Valid Somatic Phase_I WXS targeted Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:1207092delC ENST00000326873.7 + 1 1353 c.180delC c.(178-180)tacfs p.Y60fs STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 p.0?(20)|p.?(3)|p.Y60fs*1(3)|p.Y60*(2) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) AAGGCTCTTACGGCAAGGTGA 0.622000 14 D, Mis, N, F, S NSCLC, pancreatic jejunal harmartoma, ovarian, testicular, pancreatic Peutz-Jeghers syndrome TSP Lung(3;<1E-08) yes Rec yes Peutz-Jeghers syndrome 19 19p13.3 6794 serine/threonine kinase 11 gene (LKB1) E, M, O 28 Whole gene deletion(20)|Deletion - Frameshift(4)|Substitution - Nonsense(2)|Unknown(2) GRCh37 CD064644|CM981863|CM991149 STK11 D|M SO:0001589 frameshift_variant Familial Cancer Database PJS, Hamartous Intestinal Polyposis ENST00000326873.7 1 1 hg19 CCDS45896.1 TCGA-HZ-A8P0-01A-11D-A36O-08 STK11-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449839.3 1 0 0 52 167 0 37 1 1 21 72 0 37 2 1 1 324 962 0 879 2 1 1.000000 52 162 0 37 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 2 2 2.079930 1 0.380000 1.960000 0.380000 0.990000 9.600000e-01 1.000000 1.000000 0.997862 0.990000 1 9.900000e-01 1 ARHGAP22 58504 broad.mit.edu 37 10 49667870 49667870 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:49667870C>T ENST00000249601.4 - 5 812 c.516G>A c.(514-516)gcG>gcA p.A172A ARHGAP22_ENST00000417247.2_Silent_p.A82A|ARHGAP22_ENST00000435790.2_Silent_p.A178A|ARHGAP22_ENST00000417912.2_Silent_p.A188A|ARHGAP22_ENST00000374172.1_Silent_p.A63A|ARHGAP22_ENST00000374170.1_Silent_p.A82A NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 18 CCAGCAGGGGCGCCAGGCGGG 0.652000 0 SO:0001819 synonymous_variant ENST00000249601.4 1 1 hg19 CCDS7227.1 TCGA-HZ-A8P0-01A-11D-A36O-08 ARHGAP22-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000358767.1 1 0 1 67 300 0 86 0 4.485014e-01 0 8 0 86 2 0 0 0 0 0 2 1 1.000000 67 292 0 84 2 0 0 0 0 86 2 -20.000000 1 1 0 0 1 0 0 0 1.938979 0 0.380000 1.960000 0.355509 0.910000 7.300000e-01 1.000000 1.000000 0.913408 0.910000 1 8.200000e-01 1 SLC18A3 6572 broad.mit.edu 37 10 50820227 50820227 + Nonsense_Mutation SNP G G T rs144340824 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:50820227G>T ENST00000374115.3 + 1 1881 c.1441G>T c.(1441-1443)Gag>Tag p.E481* CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 43 CTCCCGTTCCGAGCGCGATGT 0.657000 0 SO:0001587 stop_gained ENST00000374115.3 0 1 hg19 CCDS7231.1 . . . . . . . . . . G 41 8.864615 0.98982 . . ENSG00000187714 ENST00000374115 . . . 4.87 4.87 0.63330 . 0.000000 0.85682 U 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.21014 T 0.42 -18.4589 18.0047 0.89207 0.0:0.0:1.0:0.0 . . . . X 481 . ENSP00000363229:E481X E + 1 0 SLC18A3 50490233 1.000000 0.71417 0.976000 0.42696 0.726000 0.41606 9.869000 0.99810 2.262000 0.75019 0.561000 0.74099 GAG TCGA-HZ-A8P0-01A-11D-A36O-08 SLC18A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047995.1 0 0 0 5 294 0 63 0 0 0 0 63 2 0 0 0 0 0 2 1 0.936393 4 292 0 63 2 0 0 0 0 63 2 -4.014923 1 0 0 0 1 0 0 0 1.938979 0 0.380000 1.960000 0.355509 0.080000 2.000000e-02 0.190000 0.090000 0.100316 0.080000 0 5.000000e-02 1.400000e-01 WAPAL 23063 broad.mit.edu 37 10 88260206 88260206 + Missense_Mutation SNP T T G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr10:88260206T>G ENST00000298767.5 - 3 1266 c.794A>C c.(793-795)gAt>gCt p.D265A NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 31 AAAATCGTCATCCTTCATCTC 0.363000 0 SO:0001583 missense ENST00000298767.5 1 1 hg19 CCDS7375.1 . . . . . . . . . . T 10.76 1.441746 0.25900 . . ENSG00000062650 ENST00000342368;ENST00000298767;ENST00000372076 T 0.47528 0.84 5.77 3.4 0.38934 . 0.535917 0.20186 N 0.097418 T 0.35740 0.0942 L 0.34521 1.04 0.80722 D 1 B;B;B 0.22683 0.043;0.043;0.073 B;B;B 0.21151 0.01;0.01;0.033 T 0.23404 -1.0189 10 0.72032 D 0.01 . 9.4528 0.38736 0.0:0.1534:0.0:0.8466 . 265;265;308 B2RTX8;Q7Z5K2;Q7Z5K2-2 .;WAPL_HUMAN;. A 350;265;350 ENSP00000298767:D265A ENSP00000298767:D265A D - 2 0 WAPAL 88250186 1.000000 0.71417 1.000000 0.80357 0.852000 0.48524 1.613000 0.36900 0.996000 0.38943 0.528000 0.53228 GAT TCGA-HZ-A8P0-01A-11D-A36O-08 WAPAL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000049151.2 1 0 1 81 256 0 82 1 8.817855e-01 5 9 0 82 2 0 0 0 0 0 2 1 1.000000 80 253 0 80 2 0 0 0 0 82 2 -20.000000 1 1 0 0 1 0 1 1 1.619202 1 0.380000 1.960000 0.234568 0.930000 8.000000e-01 1.000000 0.990000 0.933580 0.930000 1 8.700000e-01 9.900000e-01 KDELC2 143888 broad.mit.edu 37 11 108356954 108356954 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:108356954C>T ENST00000323468.5 - 3 679 c.614G>A c.(613-615)cGg>cAg p.R205Q KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000434945.2_Missense_Mutation_p.R149Q|KDELC2_ENST00000375648.1_Missense_Mutation_p.R149Q NM_153705.4 NP_714916.3 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) TAAAGATCTCCGGTAAACATG 0.378000 0 SO:0001583 missense ENST00000323468.5 1 1 hg19 CCDS41711.1 . . . . . . . . . . C 27.1 4.800251 0.90538 . . ENSG00000178202 ENST00000323468;ENST00000434945;ENST00000375648 T;T;T 0.23754 1.89;1.89;1.89 4.68 3.76 0.43208 . 0.000000 0.85682 D 0.000000 T 0.53690 0.1812 M 0.87381 2.88 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.995 T 0.58842 -0.7565 10 0.31617 T 0.26 -17.0817 14.0815 0.64925 0.0:0.926:0.0:0.074 . 205;149 Q7Z4H8;Q7Z4H8-2 KDEL2_HUMAN;. Q 205;149;149 ENSP00000315386:R205Q;ENSP00000413429:R149Q;ENSP00000364799:R149Q ENSP00000315386:R205Q R - 2 0 KDELC2 107862164 1.000000 0.71417 1.000000 0.80357 0.973000 0.67179 7.543000 0.82106 1.566000 0.49654 0.655000 0.94253 CGG TCGA-HZ-A8P0-01A-11D-A36O-08 KDELC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390273.1 1 0 1 69 322 0 99 0 9.039388e-01 1 20 0 99 2 0 0 0 0 0 2 1 1.000000 68 316 0 99 2 0 0 0 0 99 2 -2.619481 1 1 120806 4 41 1 0 0 0 1.993013 0 0.380000 1.960000 0.375252 0.910000 7.300000e-01 1.000000 1.000000 0.912199 0.910000 1 8.200000e-01 1 APOA4 337 broad.mit.edu 37 11 116692155 116692155 + Nonsense_Mutation SNP C C A rs145184607 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:116692155C>A ENST00000357780.3 - 3 733 c.619G>T c.(619-621)Gaa>Taa p.E207* NM_000482.3 NP_000473.2 P06727 APOA4_HUMAN apolipoprotein A-IV 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) ACTTTGAATTCGTCAGCGTAG 0.622000 0 SO:0001587 stop_gained ENST00000357780.3 0 1 hg19 CCDS31681.1 . . . . . . . . . . C 17.55 3.417451 0.62622 . . ENSG00000110244 ENST00000357780 . . . 5.2 -0.358 0.12575 . 1.439250 0.04140 N 0.319406 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.38643 T 0.18 -6.1119 7.4216 0.27075 0.0:0.4561:0.2494:0.2944 . . . . X 207 . ENSP00000350425:E207X E - 1 0 APOA4 116197365 0.000000 0.05858 0.009000 0.14445 0.413000 0.31143 0.036000 0.13819 -0.027000 0.13873 0.563000 0.77884 GAA TCGA-HZ-A8P0-01A-11D-A36O-08 APOA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000106279.2 0 0 0 11 1070 1 301 0 4.496430e-03 0 9 1 301 2 0 0 0 0 0 2 1 0.998143 11 1050 0 300 2 0 0 0 1 301 2 -2.287407 0 1 0 0 1 0 0 0 1.993013 0 0.380000 1.960000 0.375252 0.050000 2.000000e-02 0.090000 0.060000 0.057759 0.050000 0 3.000000e-02 8.000000e-02 DSCAML1 57453 broad.mit.edu 37 11 117387332 117387332 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:117387332G>A ENST00000321322.6 - 8 1814 c.1813C>T c.(1813-1815)Ctg>Ttg p.L605L DSCAML1_ENST00000527706.1_Silent_p.L335L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) TTGTCTGGCAGCAGCAGGGCA 0.582000 0 SO:0001819 synonymous_variant ENST00000321322.6 0 1 hg19 CCDS8384.1 TCGA-HZ-A8P0-01A-11D-A36O-08 DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 0 0 0 4 191 0 47 0 0 0 0 47 2 0 0 0 0 0 2 1 0.886308 4 187 0 47 2 0 0 0 0 47 2 -5.685554 1 1 0 0 1 0 0 0 1.993013 0 0.380000 1.960000 0.375252 0.110000 3.000000e-02 0.250000 0.100000 0.131439 0.110000 0 6.000000e-02 1.900000e-01 HYOU1 10525 broad.mit.edu 37 11 118919004 118919004 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:118919004C>T ENST00000404233.3 - 20 2456 c.2332G>A c.(2332-2334)Gca>Aca p.A778T HYOU1_ENST00000525859.1_Missense_Mutation_p.A716T|RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000529972.1_Missense_Mutation_p.A716T NM_001130991.1|NM_006389.3 NP_001124463.1|NP_006380.1 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 33 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) CAGGTGGATGCGGCGCTGAGC 0.617000 0 SO:0001583 missense ENST00000404233.3 0 1 hg19 CCDS8408.1 . . . . . . . . . . C 6.079 0.382934 0.11524 . . ENSG00000149428 ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701 T;T;T 0.14022 2.54;2.54;2.54 5.53 -0.593 0.11667 . 0.229106 0.44902 N 0.000409 T 0.08802 0.0218 L 0.37697 1.125 0.09310 N 0.999994 B;D;B;B 0.52996 0.104;0.957;0.023;0.023 B;B;B;B 0.43386 0.021;0.418;0.015;0.015 T 0.35549 -0.9784 10 0.06757 T 0.87 -4.1834 10.1432 0.42747 0.0:0.5981:0.0:0.4019 . 769;760;778;778 B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0 .;.;HYOU1_HUMAN;. T 778;769;716;627;716;759 ENSP00000384144:A778T;ENSP00000437313:A716T;ENSP00000433397:A716T ENSP00000278752:A769T A - 1 0 HYOU1 118424214 0.087000 0.21565 0.000000 0.03702 0.044000 0.14063 0.693000 0.25497 -0.257000 0.09459 -0.894000 0.02916 GCA TCGA-HZ-A8P0-01A-11D-A36O-08 HYOU1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389353.1 0 0 0 7 386 0 85 0 7.364256e-01 0 142 0 85 2 0 0 0 0 0 2 1 0.980471 7 384 0 84 2 0 0 0 0 85 2 -1.996603 0 1 121412 3 37 1 0 0 0 1.993013 0 0.380000 1.960000 0.375252 0.090000 3.000000e-02 0.180000 0.100000 0.105340 0.090000 0 6.000000e-02 1.400000e-01 OR5A1 219982 broad.mit.edu 37 11 59211572 59211572 + Missense_Mutation SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:59211572A>G ENST00000302030.2 + 1 956 c.931A>G c.(931-933)Aag>Gag p.K311E NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 28 GTTGGAAAGGAAGAAAGTGTT 0.438000 0 SO:0001583 missense ENST00000302030.2 1 1 hg19 CCDS31561.1 . . . . . . . . . . A 7.443 0.641062 0.14386 . . ENSG00000172320 ENST00000302030 T 0.39406 1.08 5.02 2.68 0.31781 . 0.762345 0.11693 N 0.538628 T 0.25901 0.0631 L 0.28115 0.83 0.09310 N 1 P 0.37122 0.583 B 0.30646 0.118 T 0.09930 -1.0652 10 0.52906 T 0.07 -1.0631 6.7823 0.23652 0.8103:0.0:0.1897:0.0 . 311 Q8NGJ0 OR5A1_HUMAN E 311 ENSP00000303096:K311E ENSP00000303096:K311E K + 1 0 OR5A1 58968148 0.998000 0.40836 0.001000 0.08648 0.222000 0.24845 4.557000 0.60782 0.351000 0.24027 0.528000 0.53228 AAG TCGA-HZ-A8P0-01A-11D-A36O-08 OR5A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394233.1 1 0 1 101 457 0 132 0 0 0 0 132 2 0 0 0 0 0 2 1 1.000000 100 451 0 131 2 0 0 0 0 132 2 -20.000000 1 1 0 0 1 0 0 0 2.000324 0 0.380000 1.960000 0.375252 0.940000 7.800000e-01 1.000000 1.000000 0.933889 0.940000 1 8.500000e-01 1 MS4A3 932 broad.mit.edu 37 11 59837071 59837071 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:59837071C>T ENST00000278865.3 + 6 611 c.538C>T c.(538-540)Ctc>Ttc p.L180F MS4A3_ENST00000534744.1_Missense_Mutation_p.L134F|MS4A3_ENST00000395032.2_Missense_Mutation_p.L57F|MS4A3_ENST00000358152.2_Missense_Mutation_p.L134F NM_006138.4 NP_006129.4 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 21 all_epithelial(135;0.245) ACTGCTGATTCTCACCTTGCT 0.413000 0 SO:0001583 missense ENST00000278865.3 0 1 hg19 CCDS31567.1 . . . . . . . . . . C 7.678 0.688406 0.14973 . . ENSG00000149516 ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744 T;T;T;T 0.02067 4.47;4.47;4.47;4.47 4.75 -0.38 0.12490 . 0.452259 0.22739 N 0.056237 T 0.01489 0.0048 N 0.20986 0.625 0.09310 N 1 B;P 0.38395 0.215;0.629 B;B 0.40199 0.097;0.322 T 0.40021 -0.9585 10 0.02654 T 1 -7.6657 7.4388 0.27171 0.0:0.5146:0.0:0.4854 . 134;180 Q96HJ5-2;Q96HJ5 .;MS4A3_HUMAN F 57;134;180;134 ENSP00000378473:L57F;ENSP00000350872:L134F;ENSP00000278865:L180F;ENSP00000434117:L134F ENSP00000278865:L180F L + 1 0 MS4A3 59593647 0.108000 0.22018 0.003000 0.11579 0.108000 0.19459 -0.073000 0.11468 -0.246000 0.09611 0.643000 0.83706 CTC TCGA-HZ-A8P0-01A-11D-A36O-08 MS4A3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394417.1 0 0 0 14 755 1 148 0 0 0 1 148 2 0 0 0 0 0 2 1 0.999749 14 753 0 145 2 0 0 0 1 148 2 -2.470769 0 1 0 0 1 0 0 0 2.000324 0 0.380000 1.960000 0.375252 0.090000 4.000000e-02 0.150000 0.100000 0.101400 0.090000 0 6.000000e-02 1.300000e-01 BEST1 7439 broad.mit.edu 37 11 61730184 61730184 + Missense_Mutation SNP G G A rs61747600 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr11:61730184G>A ENST00000378043.4 + 10 2201 c.1558G>A c.(1558-1560)Gat>Aat p.D520N BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Missense_Mutation_p.D148N|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Missense_Mutation_p.D460N|BEST1_ENST00000378042.3_Missense_Mutation_p.D433N NM_004183.3 NP_004174.1 O76090 BEST1_HUMAN bestrophin 1 25 CTCAGAGAGCGATGGGGCCTT 0.468000 0 SO:0001583 missense ENST00000378043.4 1 1 hg19 CCDS31580.1 . . . . . . . . . . G 12.98 2.099498 0.37048 . . ENSG00000167995 ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131 D;D;T;D 0.97404 -4.36;-4.1;-0.33;-4.37 5.34 1.03 0.20045 . 1.615380 0.03680 N 0.245331 D 0.90195 0.6935 N 0.14661 0.345 0.09310 N 0.999994 P;B;P 0.38370 0.628;0.355;0.628 B;B;B 0.24848 0.04;0.018;0.056 D 0.86624 0.1881 10 0.23891 T 0.37 -0.3632 4.8606 0.13581 0.2543:0.2983:0.4474:0.0 rs61747600 433;520;460 O76090-4;O76090;O76090-3 .;BEST1_HUMAN;. N 520;433;148;460 ENSP00000367282:D520N;ENSP00000367281:D433N;ENSP00000301774:D148N;ENSP00000399709:D460N ENSP00000301774:D148N D + 1 0 BEST1 61486760 0.000000 0.05858 0.000000 0.03702 0.010000 0.07245 0.302000 0.19192 0.254000 0.21573 0.655000 0.94253 GAT TCGA-HZ-A8P0-01A-11D-A36O-08 BEST1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000394715.1 1 0 1 34 183 0 56 0 1.241329e-01 0 4 0 56 2 0 0 0 0 0 2 1 1.000000 34 180 0 53 2 0 0 0 0 56 2 -20.000000 1 1 121412 1 31 1 0 0 0 2.000324 0 0.380000 1.960000 0.375252 0.810000 5.800000e-01 1.000000 1.000000 0.821902 0.810000 0 6.900000e-01 9.500000e-01 STAB2 55576 broad.mit.edu 37 12 104147083 104147083 + Silent SNP C C T rs139125034 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:104147083C>T ENST00000388887.2 + 61 6870 c.6666C>T c.(6664-6666)aaC>aaT p.N2222N RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 stabilin 2 174 CCTGTGCCAACGAAGCTGCGA 0.552000 0 SO:0001819 synonymous_variant ENST00000388887.2 1 1 hg19 CCDS31888.1 TCGA-HZ-A8P0-01A-11D-A36O-08 STAB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000407089.1 1 0 1 48 188 0 34 0 1.911326e-01 0 4 0 34 2 0 0 0 0 0 2 1 1.000000 46 185 0 33 2 0 0 0 0 34 2 -3.381505 1 1 121412 31 46 1 0 0 0 1.998835 0 0.380000 1.960000 0.375252 0.990000 8.000000e-01 1.000000 1.000000 0.973909 0.990000 1 9.200000e-01 1 TAS2R20 259295 broad.mit.edu 37 12 11149731 11149731 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:11149731C>T ENST00000538986.1 - 1 743 c.744G>A c.(742-744)tcG>tcA p.S248S TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176889.2 NP_795370.2 P59543 T2R20_HUMAN taste receptor, type 2, member 20 13 AATTCCAAAACGATATGATTA 0.378000 0 SO:0001819 synonymous_variant ENST00000538986.1 1 1 hg19 CCDS8639.1 TCGA-HZ-A8P0-01A-11D-A36O-08 TAS2R20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000370130.2 1 0 1 76 355 0 106 0 0 0 0 106 2 0 0 0 0 0 2 1 1.000000 75 353 0 105 2 0 0 0 0 106 2 -20.000000 1 1 121408 11 45 1 0 0 0 1.971689 0 0.380000 1.960000 0.365534 0.900000 7.200000e-01 1.000000 1.000000 0.901639 0.900000 1 8.100000e-01 1 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 T A T T Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:25380275T>A ENST00000256078.4 - 3 246 c.183A>T c.(181-183)caA>caT p.Q61H KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.Q61H(153) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 153 Substitution - Missense(153) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . T 22.1 4.243092 0.79912 . . ENSG00000133703 ENST00000311936;ENST00000256078 D;D 0.84146 -1.81;-1.81 5.77 5.77 0.91146 Small GTP-binding protein domain (1); 0.049057 0.85682 D 0.000000 D 0.87265 0.6134 M 0.91140 3.18 0.80722 D 1 B;B 0.33413 0.411;0.09 B;B 0.32724 0.092;0.151 D 0.87829 0.2643 10 0.72032 D 0.01 . 9.9836 0.41828 0.0:0.0752:0.0:0.9248 rs17851045 61;61 P01116-2;P01116 .;RASK_HUMAN H 61 ENSP00000308495:Q61H;ENSP00000256078:Q61H ENSP00000256078:Q61H Q - 3 2 KRAS 25271542 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.240000 0.43088 2.326000 0.78906 0.533000 0.62120 CAA TCGA-HZ-A8P0-01A-11D-A36O-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 72 280 0 68 1 9.732354e-01 6 19 0 68 2 1 1 197 939 0 931 2 1 1.000000 69 277 0 68 2 1 1 1372 6654 0 68 2 -20.000000 1 1 0 0 1 0 0 0 1.998835 0 0.380000 1.960000 0.375252 0.990000 8.500000e-01 1.000000 1.000000 0.983073 0.990000 1 9.500000e-01 1 ESPL1 9700 broad.mit.edu 37 12 53681786 53681786 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:53681786G>A ENST00000257934.4 + 19 4298 c.4207G>A c.(4207-4209)Gac>Aac p.D1403N ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403N NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 70 TGACTTGGAAGACCCTGTCTC 0.582000 OREG0021863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Colon(53;1069 1201 2587 5382) 0 SO:0001583 missense ENST00000257934.4 1 1 hg19 CCDS8852.1 . . . . . . . . . . G 18.53 3.645049 0.67358 . . ENSG00000135476 ENST00000257934;ENST00000552671;ENST00000552462 T;T 0.12039 2.72;2.72 5.8 5.8 0.92144 . 0.429106 0.26935 N 0.021758 T 0.19565 0.0470 M 0.67953 2.075 0.38567 D 0.949859 P 0.44734 0.842 B 0.40329 0.326 T 0.02743 -1.1116 10 0.34782 T 0.22 . 16.9805 0.86326 0.0:0.0:1.0:0.0 . 1403 Q14674 ESPL1_HUMAN N 1403;1078;1403 ENSP00000257934:D1403N;ENSP00000449831:D1403N ENSP00000257934:D1403N D + 1 0 ESPL1 51968053 1.000000 0.71417 1.000000 0.80357 0.868000 0.49771 5.401000 0.66326 2.751000 0.94390 0.650000 0.86243 GAC TCGA-HZ-A8P0-01A-11D-A36O-08 ESPL1-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000406899.2 1 0 1 73 310 0 104 0 3.734607e-02 0 2 0 104 2 0 0 0 0 0 2 1 1.000000 73 308 0 103 2 0 0 0 0 104 2 -20.000000 1 1 0 0 1 0 0 0 1.998835 0 0.380000 1.960000 0.375252 0.990000 7.900000e-01 1.000000 1.000000 0.958100 0.990000 1 8.800000e-01 1 ATP5B 506 broad.mit.edu 37 12 57037629 57037629 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr12:57037629C>T ENST00000262030.3 - 4 649 c.599G>A c.(598-600)gGc>gAc p.G200D ATP5B_ENST00000552919.1_Missense_Mutation_p.G200D|SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000550162.1_5'Flank NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 19 ACCAATTTTGCCACCCTTGGC 0.418000 0 SO:0001583 missense ENST00000262030.3 0 1 hg19 CCDS8924.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 29.3|29.3 4.996446|4.996446 0.93167|0.93167 .|. .|. ENSG00000110955|ENSG00000110955 ENST00000262030;ENST00000552919;ENST00000551020|ENST00000552959 D;D;D|. 0.82433|. -1.61;-1.61;-1.61|. 5.56|5.56 5.56|5.56 0.83823|0.83823 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);ATPase, AAA+ type, core (1);|. 0.000000|. 0.85682|. D|. 0.000000|. D|. 0.88822|. 0.6541|. H|H 0.97315|0.97315 3.98|3.98 0.80722|0.80722 D|D 1|1 P|. 0.43542|. 0.81|. P|. 0.60886|. 0.88|. D|. 0.92479|. 0.5991|. 10|. 0.87932|. D|. 0|. -0.5245|-0.5245 18.303|18.303 0.90171|0.90171 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 200|. P06576|. ATPB_HUMAN|. D|X 200;200;139|136 ENSP00000262030:G200D;ENSP00000450297:G200D;ENSP00000446677:G139D|. ENSP00000262030:G200D|. G|W -|- 2|3 0|0 ATP5B|ATP5B 55323896|55323896 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.919000|0.919000 0.55068|0.55068 7.114000|7.114000 0.77103|0.77103 2.627000|2.627000 0.88993|0.88993 0.313000|0.313000 0.20887|0.20887 GGC|TGG TCGA-HZ-A8P0-01A-11D-A36O-08 ATP5B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408380.1 0 0 0 5 427 0 94 0 9.911597e-01 1 804 0 94 2 0 0 0 0 0 2 1 0.936349 5 423 0 93 2 0 0 0 0 94 2 -2.286737 0 1 0 0 1 0 0 0 1.998835 0 0.380000 1.960000 0.375252 0.060000 1.000000e-02 0.130000 0.060000 0.071926 0.060000 0 3.000000e-02 1.000000e-01 POTEG 404785 broad.mit.edu 37 14 19553823 19553823 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:19553823G>A ENST00000409832.3 + 1 459 c.407G>A c.(406-408)cGt>cAt p.R136H NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G p.R136H(1) 47 TACCACGTCCGTCGAGAAGAT 0.577000 1 Substitution - Missense(1) SO:0001583 missense ENST00000409832.3 1 1 hg19 CCDS32018.1 . . . . . . . . . . g 5.784 0.328972 0.10956 . . ENSG00000222036 ENST00000409832 T 0.53206 0.63 1.47 -2.95 0.05564 . . . . . T 0.34687 0.0906 L 0.50333 1.59 0.09310 N 1 B 0.10296 0.003 B 0.08055 0.003 T 0.24657 -1.0154 9 0.39692 T 0.17 . 4.5394 0.12049 0.0:0.4621:0.3049:0.2331 . 136 Q6S5H5 POTEG_HUMAN H 136 ENSP00000386971:R136H ENSP00000386971:R136H R + 2 0 POTEG 18623823 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.250000 0.08830 -0.851000 0.04147 -0.715000 0.03620 CGT TCGA-HZ-A8P0-01A-11D-A36O-08 POTEG-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000408579.1 1 0 0 45 871 1 258 0 0 0 1 258 2 0 0 0 0 0 2 1 0.999921 22 479 1 382 7 0 0 0 1 258 2 -3.317601 1 1 119144 18 34 1 0.380000 1.960000 0 0 ZNF219 51222 broad.mit.edu 37 14 21561128 21561128 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:21561128C>A ENST00000360947.3 - 3 739 c.328G>T c.(328-330)Gag>Tag p.E110* ZNF219_ENST00000421093.2_Nonsense_Mutation_p.E110*|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Nonsense_Mutation_p.E110*|ZNF219_ENST00000556101.1_5'Flank NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) CGTGGGCGCTCGGGCTGGTGT 0.721000 OREG0022565 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001587 stop_gained ENST00000360947.3 0 1 hg19 CCDS9568.1 . . . . . . . . . . C 36 5.775484 0.96922 . . ENSG00000165804 ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270;ENST00000554478;ENST00000556174 . . . 4.99 4.99 0.66335 . 0.244954 0.34291 N 0.004083 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 -18.6504 13.6641 0.62384 0.0:1.0:0.0:0.0 . . . . X 110;110;110;110;156;110 . ENSP00000354206:E110X E - 1 0 ZNF219 20630968 0.012000 0.17670 0.945000 0.38365 0.486000 0.33341 2.161000 0.42358 2.597000 0.87782 0.655000 0.94253 GAG TCGA-HZ-A8P0-01A-11D-A36O-08 ZNF219-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000073931.2 0 0 0 5 105 0 50 0 2.680743e-01 0 19 0 50 2 0 0 0 0 0 2 1 0.939005 6 104 0 49 2 0 0 0 0 50 2 -8.336414 1 1 0 0 1 0 1 1 2.013854 0 0.380000 1.960000 0.378820 0.250000 9.000000e-02 0.510000 0.240000 0.277262 0.250000 0 1.600000e-01 3.800000e-01 NPAS3 64067 broad.mit.edu 37 14 34269465 34269465 + Missense_Mutation SNP A A T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:34269465A>T ENST00000356141.4 + 12 1952 c.1952A>T c.(1951-1953)gAg>gTg p.E651V NPAS3_ENST00000357798.5_Missense_Mutation_p.E638V|NPAS3_ENST00000548645.1_Missense_Mutation_p.E621V|NPAS3_ENST00000551492.1_Missense_Mutation_p.E656V|NPAS3_ENST00000346562.2_Missense_Mutation_p.E619V Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) ATCAAGACGGAGATCTCAGAA 0.627000 0 SO:0001583 missense ENST00000356141.4 1 1 hg19 CCDS53891.1 . . . . . . . . . . A 17.33 3.362475 0.61403 . . ENSG00000151322 ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798 T;T;T;T;T;T 0.72167 -0.63;2.95;2.97;2.97;2.95;2.82 5.07 5.07 0.68467 . 0.135165 0.50627 D 0.000116 T 0.75488 0.3856 L 0.27053 0.805 0.80722 D 1 D;D;D;D 0.76494 0.999;0.998;0.999;0.999 D;D;D;D 0.80764 0.994;0.987;0.994;0.994 T 0.79055 -0.1960 10 0.72032 D 0.01 . 14.8262 0.70113 1.0:0.0:0.0:0.0 . 621;651;619;638 Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3 .;NPAS3_HUMAN;.;. V 625;656;619;621;651;638 ENSP00000448373:E625V;ENSP00000450392:E656V;ENSP00000319610:E619V;ENSP00000448916:E621V;ENSP00000348460:E651V;ENSP00000350446:E638V ENSP00000319610:E619V E + 2 0 NPAS3 33339216 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.019000 0.93662 1.887000 0.54652 0.454000 0.30748 GAG TCGA-HZ-A8P0-01A-11D-A36O-08 NPAS3-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000276645.1 1 0 0 36 155 0 52 0 0 0 0 52 2 0 0 0 0 0 2 1 1.000000 35 153 0 51 2 0 0 0 0 52 2 -20.000000 1 1 0 0 1 0 1 1 2.013854 0 0.380000 1.960000 0.378820 0.980000 7.200000e-01 1.000000 1.000000 0.940499 0.980000 1 8.400000e-01 1 BTBD7 55727 broad.mit.edu 37 14 93761248 93761248 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:93761248C>A ENST00000334746.5 - 3 425 c.118G>T c.(118-120)Gaa>Taa p.E40* BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Nonsense_Mutation_p.E40*|BTBD7_ENST00000298896.3_Nonsense_Mutation_p.E40*|BTBD7_ENST00000393170.2_5'Flank NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 35 all_cancers(154;0.08) AACTTTGATTCGCAACCATAG 0.348000 0 SO:0001587 stop_gained ENST00000334746.5 0 1 hg19 CCDS32146.1 . . . . . . . . . . C 24.2 4.505722 0.85282 . . ENSG00000011114 ENST00000334746;ENST00000298896;ENST00000555525;ENST00000554968 . . . 5.9 5.9 0.94986 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.39692 T 0.17 . 20.27 0.98469 0.0:1.0:0.0:0.0 . . . . X 40 . ENSP00000298896:E40X E - 1 0 BTBD7 92831001 1.000000 0.71417 1.000000 0.80357 0.975000 0.68041 7.487000 0.81328 2.804000 0.96469 0.655000 0.94253 GAA TCGA-HZ-A8P0-01A-11D-A36O-08 BTBD7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412701.1 0 0 0 6 442 0 91 0 2.651224e-03 0 5 0 91 2 0 0 0 0 0 2 1 0.964226 6 438 0 90 2 0 0 0 0 91 2 -2.694294 1 1 0 0 1 0 1 1 2.013854 0 0.380000 1.960000 0.378820 0.070000 2.000000e-02 0.150000 0.070000 0.081431 0.070000 0 4.000000e-02 1.100000e-01 DICER1 23405 broad.mit.edu 37 14 95590833 95590833 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr14:95590833C>T ENST00000526495.1 - 10 1367 c.1076G>A c.(1075-1077)tGt>tAt p.C359Y DICER1_ENST00000343455.3_Missense_Mutation_p.C359Y|DICER1_ENST00000541352.1_Missense_Mutation_p.C359Y|DICER1_ENST00000527414.1_Missense_Mutation_p.C359Y|DICER1_ENST00000393063.1_Missense_Mutation_p.C359Y Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) GTGCTCTTCACATAGTGCATG 0.373000 Mis F, N sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome yes Rec yes Familial Pleuropulmonary Blastoma 14 14q32.13 23405 dicer 1, ribonuclease type III E, M, O 0 SO:0001583 missense Familial Cancer Database Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial ENST00000526495.1 1 1 hg19 CCDS9931.1 . . . . . . . . . . C 23.2 4.387947 0.82902 . . ENSG00000100697 ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352 T;T;T;T;T 0.39056 1.1;1.1;1.1;1.1;1.1 5.54 5.54 0.83059 . 0.000000 0.85682 D 0.000000 T 0.58061 0.2096 M 0.63843 1.955 0.80722 D 1 D 0.60575 0.988 D 0.63192 0.912 T 0.50415 -0.8831 10 0.09338 T 0.73 -18.0875 19.4888 0.95042 0.0:1.0:0.0:0.0 . 359 Q9UPY3 DICER_HUMAN Y 359 ENSP00000343745:C359Y;ENSP00000437256:C359Y;ENSP00000376783:C359Y;ENSP00000435681:C359Y;ENSP00000444719:C359Y ENSP00000343745:C359Y C - 2 0 DICER1 94660586 1.000000 0.71417 0.987000 0.45799 0.998000 0.95712 7.267000 0.78462 2.607000 0.88179 0.585000 0.79938 TGT TCGA-HZ-A8P0-01A-11D-A36O-08 DICER1-004 KNOWN alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000387997.1 1 0 1 104 431 0 123 1 1.740028e-01 2 2 0 123 2 0 0 0 0 0 2 1 1.000000 102 429 0 121 2 0 0 0 0 123 2 -20.000000 1 1 0 0 1 0 1 1 2.013854 0 0.380000 1.960000 0.378820 0.990000 8.400000e-01 1.000000 1.000000 0.975102 0.990000 1 9.200000e-01 1 LDHAL6B 92483 broad.mit.edu 37 15 59499545 59499545 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:59499545G>A ENST00000307144.4 + 1 504 c.406G>A c.(406-408)Gca>Aca p.A136T MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 10 CTTTGTCACAGCAAACTCCAA 0.428000 0 SO:0001583 missense ENST00000307144.4 0 1 hg19 CCDS10171.1 . . . . . . . . . . G 17.91 3.503507 0.64298 . . ENSG00000171989 ENST00000307144 D 0.88431 -2.38 1.47 1.47 0.22746 Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1); 0.000000 0.64402 U 0.000005 D 0.87051 0.6081 M 0.79693 2.465 0.53005 D 0.999961 P 0.39311 0.667 B 0.37943 0.261 D 0.85352 0.1102 10 0.62326 D 0.03 . 8.4578 0.32910 0.0:0.0:1.0:0.0 . 136 Q9BYZ2 LDH6B_HUMAN T 136 ENSP00000302393:A136T ENSP00000302393:A136T A + 1 0 LDHAL6B 57286837 1.000000 0.71417 0.083000 0.20561 0.047000 0.14425 6.111000 0.71541 0.784000 0.33661 0.305000 0.20034 GCA TCGA-HZ-A8P0-01A-11D-A36O-08 LDHAL6B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256015.1 0 0 0 6 617 1 176 0 0 0 1 176 2 0 0 0 0 0 2 0 0.075100 6 605 1 175 13 0 0 0 1 176 2 -2.010238 0 1 0 0 1 0 0 0 1.991875 0 0.380000 1.960000 0.375252 0.050000 1.000000e-02 0.110000 0.050000 0.058366 0.050000 0 3.000000e-02 8.000000e-02 SLCO3A1 28232 broad.mit.edu 37 15 92690367 92690367 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr15:92690367C>T ENST00000318445.6 + 8 1880 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P556S|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563) GGCACAGACACCCTCAGTCAT 0.582000 0 SO:0001583 missense ENST00000318445.6 1 1 hg19 CCDS10371.1 . . . . . . . . . . C 20.4 3.978773 0.74360 . . ENSG00000176463 ENST00000318445;ENST00000424469;ENST00000555549 T;T 0.42131 0.98;0.98 6.03 6.03 0.97812 Major facilitator superfamily domain, general substrate transporter (1); 0.000000 0.85682 D 0.000000 T 0.65091 0.2658 M 0.66506 2.035 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;0.998;0.999 T 0.56798 -0.7919 10 0.31617 T 0.26 . 20.5568 0.99304 0.0:1.0:0.0:0.0 . 498;556;556 Q9UIG8-3;Q9UIG8-2;Q9UIG8 .;.;SO3A1_HUMAN S 556;556;275 ENSP00000320634:P556S;ENSP00000387846:P556S ENSP00000320634:P556S P + 1 0 SLCO3A1 90491371 1.000000 0.71417 0.972000 0.41901 0.765000 0.43378 7.305000 0.78891 2.861000 0.98227 0.655000 0.94253 CCC TCGA-HZ-A8P0-01A-11D-A36O-08 SLCO3A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313529.1 1 0 1 69 284 0 71 1 9.949985e-01 2 34 0 71 2 0 0 0 0 0 2 1 1.000000 68 280 0 70 2 0 0 0 0 71 2 -20.000000 1 1 0 0 1 0 0 0 1.991875 0 0.380000 1.960000 0.375252 0.990000 8.100000e-01 1.000000 1.000000 0.967863 0.990000 1 9.100000e-01 1 GTF3C1 2975 broad.mit.edu 37 16 27481702 27481702 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:27481702C>A ENST00000356183.4 - 31 4556 c.4541G>T c.(4540-4542)cGa>cTa p.R1514L GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1514L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 80 GCTTGGAAATCGCCACGTAAA 0.502000 0 SO:0001583 missense ENST00000356183.4 0 1 hg19 CCDS32414.1 . . . . . . . . . . C 30 5.050089 0.93740 . . ENSG00000077235 ENST00000356183;ENST00000388971 T 0.26957 1.7 5.56 5.56 0.83823 . 0.000000 0.85682 D 0.000000 T 0.54029 0.1833 M 0.76574 2.34 0.48288 D 0.999624 D;D 0.89917 1.0;1.0 D;D 0.87578 0.997;0.998 T 0.53837 -0.8382 10 0.54805 T 0.06 -10.7008 19.1435 0.93455 0.0:1.0:0.0:0.0 . 1514;1514 Q12789;Q12789-3 TF3C1_HUMAN;. L 1514;1510 ENSP00000348510:R1514L ENSP00000348510:R1514L R - 2 0 GTF3C1 27389203 1.000000 0.71417 0.982000 0.44146 0.971000 0.66376 6.537000 0.73847 2.614000 0.88457 0.585000 0.79938 CGA TCGA-HZ-A8P0-01A-11D-A36O-08 GTF3C1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000433856.1 0 0 0 6 636 0 190 0 8.426084e-02 0 43 0 190 2 0 0 0 0 0 2 1 0.964242 6 631 0 190 2 0 0 0 0 190 2 -2.537684 1 1 0 0 1 1 2 3 2.030199 0 0.380000 1.960000 0.382347 0.050000 1.000000e-02 0.120000 0.050000 0.066536 0.050000 0 3.000000e-02 8.000000e-02 RNF40 9810 broad.mit.edu 37 16 30778186 30778186 + Missense_Mutation SNP A A G TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 A G A A Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:30778186A>G ENST00000324685.6 + 11 1853 c.1418A>G c.(1417-1419)aAc>aGc p.N473S RNF40_ENST00000402121.3_Missense_Mutation_p.N165S|RNF40_ENST00000357890.5_Missense_Mutation_p.N373S|RNF40_ENST00000563683.1_Missense_Mutation_p.N433S NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 30 Colorectal(24;0.198) CTGGCGGCCAACGAGCAGGCG 0.602000 0 SO:0001583 missense ENST00000324685.6 1 1 hg19 CCDS10691.1 . . . . . . . . . . A 27.1 4.804399 0.90623 . . ENSG00000103549 ENST00000324685;ENST00000357890;ENST00000402121 T;T;T 0.26957 1.7;1.7;1.7 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 T 0.54935 0.1889 M 0.84948 2.725 0.80722 D 1 D;D;D;D 0.71674 0.977;0.998;0.995;0.995 P;D;D;D 0.69654 0.883;0.919;0.965;0.939 T 0.62096 -0.6926 10 0.72032 D 0.01 -18.9766 15.0705 0.72034 1.0:0.0:0.0:0.0 . 165;373;473;473 F8W8Z4;O75150-4;A8K6K1;O75150 .;.;.;BRE1B_HUMAN S 473;373;165 ENSP00000325677:N473S;ENSP00000350563:N373S;ENSP00000384942:N165S ENSP00000325677:N473S N + 2 0 RNF40 30685687 1.000000 0.71417 0.999000 0.59377 0.998000 0.95712 8.711000 0.91396 2.199000 0.70637 0.533000 0.62120 AAC TCGA-HZ-A8P0-01A-11D-A36O-08 RNF40-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255524.2 1 0 1 14 99 0 26 1 9.948492e-01 17 49 0 26 2 0 0 0 0 0 2 1 0.999767 14 95 0 25 2 0 0 0 0 26 2 -20.000000 1 1 0 0 1 1 2 3 2.030199 0 0.380000 1.960000 0.382347 0.660000 3.800000e-01 1.000000 1.000000 0.679717 0.660000 0 5.100000e-01 8.500000e-01 FOXF1 2294 broad.mit.edu 37 16 86544628 86544628 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr16:86544628C>A ENST00000262426.4 + 1 496 c.453C>A c.(451-453)ctC>ctA p.L151L FENDRR_ENST00000595886.1_lincRNA NM_001451.2 NP_001442.2 Q12946 FOXF1_HUMAN forkhead box F1 12 GCCAGGCGCTCAAGCCCATGT 0.667000 0 SO:0001819 synonymous_variant ENST00000262426.4 0 1 hg19 CCDS10957.2 TCGA-HZ-A8P0-01A-11D-A36O-08 FOXF1-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000269103.2 0 0 0 6 438 0 113 0 3.842601e-02 0 19 0 113 2 0 0 0 0 0 2 1 0.964221 7 433 0 113 2 0 0 0 0 113 2 -2.844498 1 1 0 0 1 1 2 3 2.030831 0 0.380000 1.960000 0.382347 0.070000 2.000000e-02 0.160000 0.070000 0.091615 0.070000 0 4.000000e-02 1.200000e-01 SERPINF2 5345 broad.mit.edu 37 17 1648635 1648635 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:1648635C>T ENST00000324015.3 + 4 188 c.111C>T c.(109-111)agC>agT p.S37S SERPINF2_ENST00000382061.4_Silent_p.S37S|SERPINF2_ENST00000450523.2_Silent_p.S37S NM_000934.3 NP_000925.2 P08697 A2AP_HUMAN serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 12 Ocriplasmin(DB08888) AGCTAACTAGCGGGCCGAACC 0.657000 0 SO:0001819 synonymous_variant ENST00000324015.3 1 0 hg19 CCDS11011.1 TCGA-HZ-A8P0-01A-11D-A36O-08 SERPINF2-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207078.3 1 0 0 38 172 0 41 0 3.454690e-02 1 1 0 41 2 0 0 0 0 0 2 1 1.000000 38 168 0 39 2 0 0 0 0 41 2 -2.990709 1 1 121386 169 51 1 0 0 0 1.987048 0 0.380000 1.960000 0.370431 0.930000 6.800000e-01 1.000000 1.000000 0.913506 0.930000 1 8.000000e-01 1 NLK 51701 broad.mit.edu 37 17 26495642 26495642 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:26495642G>A ENST00000407008.3 + 6 1724 c.1006G>A c.(1006-1008)Gga>Aga p.G336R NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) AGAACTACTAGGACGAAGAAT 0.413000 0 SO:0001583 missense ENST00000407008.3 1 1 hg19 CCDS11224.2 . . . . . . . . . . G 21.8 4.200775 0.79015 . . ENSG00000087095 ENST00000407008 T 0.41758 0.99 6.08 6.08 0.98989 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.36717 0.0977 N 0.12920 0.275 0.80722 D 1 B 0.26081 0.141 B 0.35353 0.201 T 0.22556 -1.0213 10 0.56958 D 0.05 -13.0763 19.6516 0.95815 0.0:0.0:1.0:0.0 . 336 Q9UBE8 NLK_HUMAN R 336 ENSP00000384625:G336R ENSP00000384625:G336R G + 1 0 NLK 23519769 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 9.476000 0.97823 2.894000 0.99253 0.655000 0.94253 GGA TCGA-HZ-A8P0-01A-11D-A36O-08 NLK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255607.3 1 0 1 70 274 0 82 1 6.887126e-01 2 9 0 82 2 0 0 0 0 0 2 1 1.000000 69 271 0 81 2 0 0 0 0 82 2 -3.457728 1 1 0 0 1 1 2 3 2.018854 0 0.380000 1.960000 0.381176 0.990000 8.500000e-01 1.000000 1.000000 0.983682 0.990000 1 9.500000e-01 1 TBC1D3F 84218 broad.mit.edu 37 17 36288204 36288204 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:36288204G>T ENST00000327454.6 + 6 436 c.290G>T c.(289-291)cGa>cTa p.R97L TBC1D3F_ENST00000505415.1_Missense_Mutation_p.R97L|TBC1D3F_ENST00000539424.1_Missense_Mutation_p.R17L|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.R97L NM_032258.2 NP_115634.2 A6NER0 TBC3F_HUMAN TBC1 domain family, member 3F p.R97Q(1)|p.R97L(1) 2 CTCATAGATCGAGCGTACAAG 0.547000 2 Substitution - Missense(2) SO:0001583 missense ENST00000327454.6 0 1 hg19 CCDS45657.1 . . . . . . . . . . g 10.29 1.309800 0.23821 . . ENSG00000185128 ENST00000327454;ENST00000378174;ENST00000505415;ENST00000539424 T;T;T;T 0.03330 3.97;3.97;3.97;3.97 . . . Rab-GAP/TBC domain (2); 0.212784 0.34460 U 0.003960 T 0.05547 0.0146 M 0.79614 2.46 0.39492 D 0.968062 B;B;B;B 0.19935 0.007;0.04;0.001;0.004 B;B;B;B 0.19148 0.024;0.011;0.007;0.002 T 0.15723 -1.0427 9 0.48119 T 0.1 . 5.9051 0.18992 8.0E-4:0.0:0.9992:0.0 . 97;97;97;97 B9A6J9;A6NFD7;P0C7X1;A6NER0 .;.;TBC3H_HUMAN;TBC3F_HUMAN L 97;97;97;17 ENSP00000329256:R97L;ENSP00000367416:R97L;ENSP00000421962:R97L;ENSP00000443859:R17L ENSP00000329256:R97L R + 2 0 TBC1D3F 33362586 1.000000 0.71417 0.076000 0.20297 0.076000 0.17211 3.336000 0.52113 0.119000 0.18210 0.121000 0.15741 CGA TCGA-HZ-A8P0-01A-11D-A36O-08 TBC1D3F-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000256100.3 0 0 0 10 1636 0 505 0 7.108719e-04 0 6 0 505 2 0 0 0 0 0 2 0 0.215910 2 234 1 742 3 0 0 0 0 505 2 -1.920210 0 1 118610 302 46 1 1 2 3 2.018854 0 0.380000 1.960000 0.381176 0.030000 0 0.060000 0.040000 0.035171 0.030000 0 1.000000e-02 5.000000e-02 GPR179 440435 broad.mit.edu 37 17 36485562 36485562 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:36485562G>T ENST00000342292.4 - 11 3910 c.3890C>A c.(3889-3891)tCa>tAa p.S1297* GPR179_ENST00000584976.1_5'Flank NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TATGGGCTCTGATTTTCCCCG 0.582000 0 SO:0001587 stop_gained ENST00000342292.4 0 1 hg19 CCDS42308.1 . . . . . . . . . . G 38 6.866372 0.97897 . . ENSG00000188888 ENST00000342292 . . . 4.97 4.97 0.65823 . 1.494310 0.04246 N 0.337834 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -0.1238 15.2627 0.73637 0.0:0.0:1.0:0.0 . . . . X 1297 . ENSP00000345060:S1297X S - 2 0 GPR179 33739088 0.000000 0.05858 0.039000 0.18376 0.039000 0.13416 0.770000 0.26618 2.575000 0.86900 0.462000 0.41574 TCA TCGA-HZ-A8P0-01A-11D-A36O-08 GPR179-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255329.2 0 0 0 5 283 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.937504 5 282 0 62 2 0 0 0 0 64 2 -3.380250 1 1 0 0 1 1 2 3 2.018854 0 0.380000 1.960000 0.381176 0.090000 3.000000e-02 0.210000 0.090000 0.108491 0.090000 0 6.000000e-02 1.500000e-01 PTRF 284119 broad.mit.edu 37 17 40557270 40557270 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:40557270G>T ENST00000357037.5 - 2 1027 c.608C>A c.(607-609)tCg>tAg p.S203* NM_012232.5 NP_036364.2 polymerase I and transcript release factor 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) CGCCTCGTCCGACGAAAGCTC 0.662000 0 SO:0001587 stop_gained ENST00000357037.5 0 1 hg19 CCDS11425.1 . . . . . . . . . . G 37 5.978629 0.97168 . . ENSG00000177469 ENST00000357037;ENST00000357684 . . . 5.35 5.35 0.76521 . 0.067530 0.64402 D 0.000009 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -16.0007 19.0756 0.93159 0.0:0.0:1.0:0.0 . . . . X 203;158 . ENSP00000349541:S203X S - 2 0 PTRF 37810796 1.000000 0.71417 0.965000 0.40720 0.906000 0.53458 7.396000 0.79891 2.511000 0.84671 0.446000 0.29264 TCG TCGA-HZ-A8P0-01A-11D-A36O-08 PTRF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449938.1 0 0 0 8 657 1 173 0 8.995252e-02 0 255 1 173 7 0 0 0 0 0 2 0 0.131638 7 647 1 172 14 0 0 0 1 173 2 -2.474199 0 1 0 0 1 1 2 3 2.018854 0 0.380000 1.960000 0.381176 0.060000 2.000000e-02 0.130000 0.060000 0.070993 0.060000 0 4.000000e-02 1.000000e-01 NDEL1 81565 broad.mit.edu 37 17 8370257 8370257 + Silent SNP C C T rs138863036 byFrequency TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr17:8370257C>T ENST00000334527.7 + 9 1151 c.954C>T c.(952-954)aaC>aaT p.N318N NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000380025.4_Missense_Mutation_p.R268W|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR NM_030808.4 NP_110435.1 Q9GZM8 NDEL1_HUMAN nudE neurodevelopment protein 1-like 1 13 GGGCAGTAAACGGCTTTGACC 0.537000 0 SO:0001819 synonymous_variant ENST00000334527.7 1 1 hg19 CCDS11143.1 TCGA-HZ-A8P0-01A-11D-A36O-08 NDEL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000226999.2 0 0 1 50 274 0 78 1 9.999875e-01 15 79 0 78 2 0 0 0 0 0 2 1 1.000000 48 270 0 78 2 0 0 0 0 78 2 -4.780038 1 1 121412 40 50 1 0 0 0 1.987048 0 0.380000 1.960000 0.370431 0.790000 6.000000e-01 1.000000 1.000000 0.804888 0.790000 0 6.900000e-01 9.100000e-01 ZNF181 339318 broad.mit.edu 37 19 35232318 35232318 + Silent SNP T T G rs2607243 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:35232318T>G ENST00000492450.1 + 4 1121 c.1032T>G c.(1030-1032)acT>acG p.T344T ZNF181_ENST00000392232.3_Silent_p.T388T|ZNF181_ENST00000459757.2_Silent_p.T343T Q2M3W8 ZN181_HUMAN zinc finger protein 181 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GAATTCATACTCAAGAAAAAC 0.388000 0 SO:0001819 synonymous_variant ENST00000492450.1 0 1 hg19 CCDS32990.2 TCGA-HZ-A8P0-01A-11D-A36O-08 ZNF181-002 KNOWN NAGNAG_splice_site|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000349005.3 0 0 0 7 276 0 47 0 2.704974e-02 0 9 0 47 2 0 0 0 0 0 2 1 0.979704 7 271 0 45 2 0 0 0 0 47 2 -2.557237 1 1 0 0 1 1 2 3 2.047715 0 0.380000 1.960000 0.385835 0.140000 5.000000e-02 1.000000 0.130000 0.180646 0.140000 0 9.000000e-02 2.100000e-01 PLEKHG2 64857 broad.mit.edu 37 19 39908691 39908691 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:39908691G>T ENST00000409794.3 + 9 1879 c.1029G>T c.(1027-1029)atG>atT p.M343I PLEKHG2_ENST00000409797.2_Missense_Mutation_p.M343I|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.M343I|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.M284I NM_022835.2 NP_073746.2 Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTCTCGGATGCTGCTGGTGG 0.612000 0 SO:0001583 missense ENST00000409794.3 0 1 hg19 CCDS33022.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 19.10|19.10 3.761628|3.761628 0.69763|0.69763 .|. .|. ENSG00000090924|ENSG00000090924 ENST00000205135|ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797 .|D;D;D;D;D .|0.87412 .|-2.25;-2.25;-2.25;-2.25;-2.25 4.65|4.65 4.65|4.65 0.58169|0.58169 .|Pleckstrin homology-type (1);Pleckstrin homology domain (2); .|0.000000 .|0.85682 .|D .|0.000000 D|D 0.88235|0.88235 0.6382|0.6382 L|L 0.52573|0.52573 1.65|1.65 0.49915|0.49915 D|D 0.999832|0.999832 .|B;B;B;B .|0.31599 .|0.33;0.136;0.222;0.198 .|P;B;B;B .|0.44897 .|0.463;0.214;0.183;0.343 D|D 0.85506|0.85506 0.1194|0.1194 5|10 .|0.30854 .|T .|0.27 .|. 16.8319|16.8319 0.85946|0.85946 0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0 .|. .|343;343;284;343 .|Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2 .|.;PKHG2_HUMAN;.;. F|I 240|343;343;343;284;343 .|ENSP00000386733:M343I;ENSP00000392906:M343I;ENSP00000367812:M343I;ENSP00000408857:M284I;ENSP00000386492:M343I .|ENSP00000367812:M343I C|M +|+ 2|3 0|0 PLEKHG2|PLEKHG2 44600531|44600531 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.688000|0.688000 0.40055|0.40055 3.401000|3.401000 0.52601|0.52601 2.606000|2.606000 0.88127|0.88127 0.556000|0.556000 0.70494|0.70494 TGC|ATG TCGA-HZ-A8P0-01A-11D-A36O-08 PLEKHG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000326802.1 0 0 1 8 64 0 17 0 6.827786e-01 0 20 0 17 2 0 0 0 0 0 2 1 0.990209 8 63 0 17 2 0 0 0 0 17 2 -14.568410 1 1 0 0 1 1 2 3 2.047715 0 0.380000 1.960000 0.385835 0.610000 2.900000e-01 1.000000 1.000000 0.641673 0.610000 0 4.300000e-01 8.600000e-01 MYADM 91663 broad.mit.edu 37 19 54377360 54377360 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:54377360G>T ENST00000391769.2 + 3 857 c.577G>T c.(577-579)Gac>Tac p.D193Y MYADM_ENST00000336967.3_Missense_Mutation_p.D193Y|MYADM_ENST00000391771.1_Missense_Mutation_p.D193Y|MYADM_ENST00000391770.4_Missense_Mutation_p.D193Y|MYADM_ENST00000391768.2_Missense_Mutation_p.D193Y|AC008440.5_ENST00000413496.2_RNA NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 12 Ovarian(34;0.19) GTTCATCAGCGACCCCAACCT 0.642000 0 SO:0001583 missense ENST00000391769.2 0 1 hg19 CCDS12866.1 . . . . . . . . . . G 3.909 -0.020465 0.07634 . . ENSG00000179820 ENST00000421337;ENST00000336967;ENST00000391770;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768 T;T;T;T;T;T;T 0.25085 1.82;1.82;1.82;1.82;1.82;1.82;1.82 4.21 -5.25 0.02781 Marvel (1);MARVEL-like domain (1); 1.023760 0.07811 N 0.958108 T 0.27098 0.0664 L 0.41710 1.295 0.09310 N 1 P 0.42941 0.794 P 0.46076 0.503 T 0.41431 -0.9509 10 0.56958 D 0.05 -2.8128 14.9568 0.71120 0.1028:0.0:0.8972:0.0 . 193 Q96S97 MYADM_HUMAN Y 193;193;193;193;193;156;193;193 ENSP00000398269:D193Y;ENSP00000337222:D193Y;ENSP00000375650:D193Y;ENSP00000416919:D193Y;ENSP00000375651:D193Y;ENSP00000375649:D193Y;ENSP00000375648:D193Y ENSP00000337222:D193Y D + 1 0 MYADM 59069172 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 0.121000 0.15667 -1.181000 0.02730 -0.657000 0.03884 GAC TCGA-HZ-A8P0-01A-11D-A36O-08 MYADM-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000134337.1 0 0 0 8 426 0 165 0 7.787326e-01 0 153 0 165 2 0 0 0 0 0 2 1 0.989105 8 423 0 164 2 0 0 0 0 165 2 -2.525760 1 1 0 0 1 0 1 1 1.688809 1 0.380000 1.960000 0.241683 0.070000 3.000000e-02 0.150000 0.080000 0.088182 0.070000 0 5.000000e-02 1.200000e-01 NLRP13 126204 broad.mit.edu 37 19 56416346 56416346 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr19:56416346C>T ENST00000342929.3 - 8 2579 c.2580G>A c.(2578-2580)gcG>gcA p.A860A NLRP13_ENST00000588751.1_Silent_p.A860A NM_176810.2 NP_789780.2 Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GAGTCAGGGCCGCACACAATA 0.468000 0 SO:0001819 synonymous_variant ENST00000342929.3 1 1 hg19 CCDS33119.1 TCGA-HZ-A8P0-01A-11D-A36O-08 NLRP13-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396560.1 1 0 1 31 116 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 1.000000 31 116 0 39 2 0 0 0 0 39 2 -3.542038 1 1 121412 5 38 1 0 1 1 1.686526 1 0.380000 1.960000 0.238142 0.850000 6.200000e-01 1.000000 1.000000 0.851212 0.850000 1 7.300000e-01 9.600000e-01 PHGDH 26227 broad.mit.edu 37 1 120263916 120263916 + Missense_Mutation SNP G G A rs142988234 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:120263916G>A ENST00000369409.4 + 2 398 c.262G>A c.(262-264)Gca>Aca p.A88T PHGDH_ENST00000369407.3_Missense_Mutation_p.A54T NM_006623.3 NP_006614.2 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) TCTGGAGGCCGCAACAAGGAA 0.587000 0 SO:0001583 missense ENST00000369409.4 0 1 hg19 CCDS904.1 . . . . . . . . . . G 26.5 4.748004 0.89663 2.27E-4 0.0 ENSG00000092621 ENST00000369409;ENST00000369407 D;D 0.88586 -2.4;-2.4 5.92 5.92 0.95590 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1); 0.000000 0.85682 D 0.000000 D 0.95999 0.8697 M 0.93808 3.46 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.96332 0.9244 10 0.87932 D 0 -11.8066 18.8845 0.92370 0.0:0.0:1.0:0.0 . 54;88 Q5SZU1;O43175 .;SERA_HUMAN T 88;54 ENSP00000358417:A88T;ENSP00000358415:A54T ENSP00000358415:A54T A + 1 0 PHGDH 120065439 1.000000 0.71417 0.192000 0.23308 0.339000 0.28857 9.628000 0.98415 2.813000 0.96785 0.561000 0.74099 GCA TCGA-HZ-A8P0-01A-11D-A36O-08 PHGDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033464.1 0 0 0 5 372 0 104 0 1.809369e-01 0 48 0 104 2 0 0 0 0 0 2 1 0.935726 5 367 0 102 2 0 0 0 0 104 2 -1.914139 0 1 121412 3 38 1 0 0 0 1.976828 0 0.380000 1.960000 0.367992 0.070000 2.000000e-02 0.150000 0.070000 0.081371 0.070000 0 4.000000e-02 1.100000e-01 FMO5 2330 broad.mit.edu 37 1 146672844 146672844 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:146672844G>A ENST00000254090.4 - 7 1461 c.1073C>T c.(1072-1074)cCt>cTt p.P358L FMO5_ENST00000441068.2_Missense_Mutation_p.P358L|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_Intron NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 25 all_hematologic(923;0.0487) CAGGTTAGGAGGGAAGACCTT 0.468000 0 SO:0001583 missense ENST00000254090.4 0 1 hg19 CCDS926.1 . . . . . . . . . . . 25.6 4.659505 0.88154 . . ENSG00000131781 ENST00000441068;ENST00000254090 T;T 0.66815 -0.23;-0.23 6.17 6.17 0.99709 . 0.097121 0.64402 D 0.000001 T 0.81259 0.4785 M 0.80183 2.485 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.81786 -0.0773 10 0.72032 D 0.01 -16.718 18.3732 0.90420 0.0:0.0:1.0:0.0 . 358;358 P49326;C9JJD1 FMO5_HUMAN;. L 358 ENSP00000416011:P358L;ENSP00000254090:P358L ENSP00000254090:P358L P - 2 0 FMO5 145139468 1.000000 0.71417 1.000000 0.80357 0.710000 0.40934 9.828000 0.99408 2.941000 0.99782 0.655000 0.94253 CCT TCGA-HZ-A8P0-01A-11D-A36O-08 FMO5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040373.2 0 0 0 11 477 0 74 0 4.712206e-02 0 14 0 74 2 0 0 0 0 0 2 1 0.998272 11 472 0 73 2 0 0 0 0 74 2 -3.257086 1 1 0 0 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.160000 8.000000e-02 1.000000 0.160000 0.206445 0.160000 0 1.100000e-01 2.400000e-01 SV2A 9900 broad.mit.edu 37 1 149882423 149882423 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:149882423C>T ENST00000369146.3 - 4 1400 c.910G>A c.(910-912)Ggc>Agc p.G304S SV2A_ENST00000369145.1_Missense_Mutation_p.G304S NM_001278719.1|NM_014849.3 NP_001265648.1|NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GCGTACACGCCACCAATCATC 0.562000 0 SO:0001583 missense ENST00000369146.3 1 1 hg19 CCDS940.1 . . . . . . . . . . C 33 5.232995 0.95207 . . ENSG00000159164 ENST00000369146;ENST00000369145 T;T 0.74106 -0.81;-0.81 4.99 4.99 0.66335 Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1); 0.000000 0.85682 D 0.000000 T 0.76608 0.4011 L 0.52905 1.665 0.80722 D 1 D 0.69078 0.997 D 0.71414 0.973 T 0.71613 -0.4540 10 0.19147 T 0.46 -14.7314 15.8174 0.78615 0.0:1.0:0.0:0.0 . 304 Q7L0J3 SV2A_HUMAN S 304 ENSP00000358142:G304S;ENSP00000358141:G304S ENSP00000358141:G304S G - 1 0 SV2A 148149047 1.000000 0.71417 0.976000 0.42696 0.963000 0.63663 7.651000 0.83577 2.591000 0.87537 0.585000 0.79938 GGC TCGA-HZ-A8P0-01A-11D-A36O-08 SV2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033754.1 1 0 1 51 228 0 60 0 3.794461e-01 0 7 0 60 2 0 0 0 0 0 2 1 1.000000 49 228 0 60 2 0 0 0 0 60 2 -3.348764 1 1 0 0 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.990000 9.900000e-01 1.000000 1.000000 0.998988 0.990000 1 9.900000e-01 1 GABPB2 126626 broad.mit.edu 37 1 151063024 151063024 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:151063024C>T ENST00000368918.3 + 3 582 c.251C>T c.(250-252)gCg>gTg p.A84V GABPB2_ENST00000368916.1_Missense_Mutation_p.A84V|GABPB2_ENST00000368917.1_Missense_Mutation_p.A84V NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 15 GATGGACATGCGCACATCGTG 0.488000 0 SO:0001583 missense ENST00000368918.3 0 1 hg19 CCDS983.1 . . . . . . . . . . C 9.007 0.981617 0.18812 . . ENSG00000143458 ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916 T;T;T 0.62498 0.02;0.02;0.02 5.46 3.31 0.37934 Ankyrin repeat-containing domain (4); 0.357560 0.33144 N 0.005223 T 0.11836 0.0288 N 0.03050 -0.425 0.09310 N 1 P;B 0.39404 0.672;0.126 B;B 0.20184 0.028;0.008 T 0.10428 -1.0630 10 0.33141 T 0.24 6.5452 9.7477 0.40457 0.0:0.8043:0.0:0.1957 . 100;84 B4DXA3;Q8TAK5 .;GABP2_HUMAN V 84;84;100;84 ENSP00000357914:A84V;ENSP00000357913:A84V;ENSP00000357912:A84V ENSP00000357912:A84V A + 2 0 GABPB2 149329648 0.001000 0.12720 0.005000 0.12908 0.348000 0.29142 1.370000 0.34238 0.664000 0.31047 0.650000 0.86243 GCG TCGA-HZ-A8P0-01A-11D-A36O-08 GABPB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000033700.2 0 0 0 5 558 0 86 0 1.726632e-02 0 18 0 86 2 0 0 0 0 0 2 1 0.935117 5 550 0 86 2 0 0 0 0 86 2 -2.385675 0 1 121412 3 38 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.060000 1.000000e-02 1.000000 0.080000 0.110124 0.060000 0 3.000000e-02 1.200000e-01 HRNR 388697 broad.mit.edu 37 1 152192788 152192788 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:152192788G>A ENST00000368801.2 - 3 1392 c.1317C>T c.(1315-1317)tcC>tcT p.S439S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGGAGCTGGGAG 0.617000 0 SO:0001819 synonymous_variant ENST00000368801.2 0 1 hg19 CCDS30859.1 TCGA-HZ-A8P0-01A-11D-A36O-08 HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 0 0 0 6 597 0 152 0 0 0 0 152 2 0 0 0 0 0 2 1 0.962874 6 585 0 151 2 0 0 0 0 152 2 -2.168665 0 1 121412 4 41 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.070000 1.000000e-02 1.000000 0.080000 0.117195 0.070000 0 4.000000e-02 1.200000e-01 CCT3 7203 broad.mit.edu 37 1 156280946 156280946 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:156280946C>T ENST00000295688.3 - 12 1476 c.1196G>A c.(1195-1197)cGc>cAc p.R399H CCT3_ENST00000472765.2_Missense_Mutation_p.R354H|CCT3_ENST00000368259.2_Missense_Mutation_p.R361H|CCT3_ENST00000368261.3_Missense_Mutation_p.R354H NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 22 Hepatocellular(266;0.158) GAGAACATTGCGACACACTTG 0.537000 0 SO:0001583 missense ENST00000295688.3 1 1 hg19 CCDS1140.2 . . . . . . . . . . C 33 5.252956 0.95336 . . ENSG00000163468 ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765 T;T;T;T 0.80994 -1.44;-1.44;-1.44;-1.44 5.77 5.77 0.91146 . 0.000000 0.85682 D 0.000000 D 0.92740 0.7692 H 0.96805 3.885 0.80722 D 1 D;D;D 0.89917 1.0;1.0;0.999 D;D;D 0.73708 0.96;0.981;0.972 D 0.94427 0.7646 10 0.72032 D 0.01 -9.7785 17.4945 0.87713 0.0:1.0:0.0:0.0 . 361;398;399 P49368-2;E9PAQ6;P49368 .;.;TCPG_HUMAN H 399;361;354;354 ENSP00000295688:R399H;ENSP00000357242:R361H;ENSP00000357244:R354H;ENSP00000431543:R354H ENSP00000295688:R399H R - 2 0 CCT3 154547570 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.441000 0.80485 2.726000 0.93360 0.650000 0.86243 CGC TCGA-HZ-A8P0-01A-11D-A36O-08 CCT3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060602.3 1 0 1 40 342 1 71 1 9.998671e-01 80 425 1 71 22 0 0 0 0 0 2 1 0.999147 41 338 1 71 18 0 0 0 1 71 2 -3.221884 1 1 121412 2 36 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.750000 5.500000e-01 1.000000 0.740000 0.770939 0.750000 0 6.400000e-01 8.900000e-01 PRG4 10216 broad.mit.edu 37 1 186269304 186269304 + Missense_Mutation SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:186269304A>C ENST00000445192.2 + 3 203 c.158A>C c.(157-159)tAc>tCc p.Y53S PRG4_ENST00000367485.4_Missense_Mutation_p.Y53S|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.Y53S|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 102 TGTCAACACTACATGGAGTGC 0.483000 0 SO:0001583 missense ENST00000445192.2 1 1 hg19 CCDS1369.1 . . . . . . . . . . A 12.19 1.862154 0.32884 . . ENSG00000116690 ENST00000367486;ENST00000367485;ENST00000445192 T;T;T 0.42900 0.96;0.96;0.96 5.57 4.38 0.52667 Somatomedin B domain (4); 0.178558 0.27122 N 0.020830 T 0.59074 0.2167 M 0.66439 2.03 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79784 0.988;0.993 T 0.62248 -0.6894 10 0.87932 D 0 -5.8319 9.7406 0.40416 0.7331:0.0:0.0:0.2669 . 53;53 Q92954-3;Q92954 .;PRG4_HUMAN S 53 ENSP00000356456:Y53S;ENSP00000356455:Y53S;ENSP00000399679:Y53S ENSP00000356455:Y53S Y + 2 0 PRG4 184535927 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.078000 0.41567 2.117000 0.64856 0.528000 0.53228 TAC TCGA-HZ-A8P0-01A-11D-A36O-08 PRG4-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000086346.1 1 0 1 96 724 0 136 0 0 0 1 0 136 2 0 0 0 0 0 2 1 1.000000 96 717 0 135 2 0 0 0 0 136 2 -20.000000 1 1 0 0 1 1 3 4 2.706172 1 0.380000 1.960000 0.544453 0.840000 6.800000e-01 1.000000 0.820000 0.849195 0.840000 0 7.500000e-01 9.400000e-01 MYBPH 4608 broad.mit.edu 37 1 203138179 203138179 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:203138179G>A ENST00000255416.4 - 9 1329 c.1272C>T c.(1270-1272)ggC>ggT p.G424G NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 20 BRCA - Breast invasive adenocarcinoma(75;0.153) ATTTGGGGTTGCCCTGGATCT 0.562000 NSCLC(32;174 1025 14462 23899 42933) 0 SO:0001819 synonymous_variant ENST00000255416.4 1 1 hg19 CCDS30975.1 TCGA-HZ-A8P0-01A-11D-A36O-08 MYBPH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000100264.1 1 0 1 78 566 0 136 0 0 0 0 136 2 0 0 0 0 0 2 1 1.000000 78 557 0 135 2 0 0 0 0 136 2 -20.000000 1 1 0 0 1 1 3 4 2.728117 1 0.380000 1.960000 0.545721 0.870000 6.900000e-01 1.000000 1.000000 0.876196 0.870000 1 7.800000e-01 9.800000e-01 MYBPH 4608 broad.mit.edu 37 1 203138180 203138180 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:203138180C>T ENST00000255416.4 - 9 1328 c.1271G>A c.(1270-1272)gGc>gAc p.G424D NM_004997.2 NP_004988.2 Q13203 MYBPH_HUMAN myosin binding protein H 20 BRCA - Breast invasive adenocarcinoma(75;0.153) TTTGGGGTTGCCCTGGATCTC 0.567000 NSCLC(32;174 1025 14462 23899 42933) 0 SO:0001583 missense ENST00000255416.4 1 1 hg19 CCDS30975.1 . . . . . . . . . . C 9.378 1.072135 0.20147 . . ENSG00000133055 ENST00000255416 T 0.66099 -0.19 5.36 5.36 0.76844 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.51477 D 0.000083 T 0.33294 0.0858 N 0.04724 -0.175 0.44155 D 0.996955 B 0.23377 0.084 B 0.26614 0.071 T 0.35549 -0.9784 10 0.02654 T 1 . 6.983 0.24713 0.0:0.7879:0.0:0.2121 . 424 Q13203 MYBPH_HUMAN D 424 ENSP00000255416:G424D ENSP00000255416:G424D G - 2 0 MYBPH 201404803 1.000000 0.71417 0.947000 0.38551 0.879000 0.50718 5.802000 0.69122 2.492000 0.84095 0.655000 0.94253 GGC TCGA-HZ-A8P0-01A-11D-A36O-08 MYBPH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000100264.1 1 0 1 75 557 0 138 0 0 0 0 138 2 0 0 0 0 0 2 1 1.000000 75 548 0 137 2 0 0 0 0 138 2 -20.000000 1 1 0 0 1 1 3 4 2.728117 1 0.380000 1.960000 0.545721 0.850000 6.800000e-01 1.000000 1.000000 0.860739 0.850000 1 7.600000e-01 9.600000e-01 USH2A 7399 broad.mit.edu 37 1 216495296 216495296 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:216495296C>T ENST00000307340.3 - 9 1959 c.1573G>A c.(1573-1575)Gat>Aat p.D525N USH2A_ENST00000366943.2_Missense_Mutation_p.D525N|USH2A_ENST00000366942.3_Missense_Mutation_p.D525N NM_206933.2 NP_996816 O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 527 TCGCAGTTATCGGCATGACCA 0.443000 HNSCC(13;0.011) 0 SO:0001583 missense ENST00000307340.3 1 1 hg19 CCDS31025.1 . . . . . . . . . . C 11.99 1.803455 0.31869 0.0 1.16E-4 ENSG00000042781 ENST00000307340;ENST00000366943;ENST00000366942 T;T;T 0.63417 -0.04;-0.04;-0.04 5.65 -0.114 0.13564 EGF-like, laminin (3); 0.531595 0.15476 N 0.260375 T 0.42517 0.1206 N 0.22421 0.69 0.09310 N 0.999999 B;B 0.20368 0.021;0.044 B;B 0.14023 0.009;0.01 T 0.24728 -1.0152 10 0.37606 T 0.19 . 8.3498 0.32295 0.0:0.6291:0.1083:0.2626 . 525;525 O75445-2;O75445 .;USH2A_HUMAN N 525 ENSP00000305941:D525N;ENSP00000355910:D525N;ENSP00000355909:D525N ENSP00000305941:D525N D - 1 0 USH2A 214561919 0.100000 0.21855 0.000000 0.03702 0.160000 0.22226 1.178000 0.31981 0.053000 0.16036 0.557000 0.71058 GAT TCGA-HZ-A8P0-01A-11D-A36O-08 USH2A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000128138.1 1 0 1 43 343 0 50 0 0 0 0 50 2 0 0 0 0 0 2 1 1.000000 42 338 0 50 2 0 0 0 0 50 2 -3.075756 1 1 121402 7 39 1 1 3 4 2.728117 1 0.380000 1.960000 0.545721 0.800000 5.900000e-01 1.000000 1.000000 0.814860 0.800000 0 6.900000e-01 9.400000e-01 DISP1 84976 broad.mit.edu 37 1 223176847 223176847 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:223176847G>T ENST00000284476.6 + 8 2272 c.2108G>T c.(2107-2109)cGa>cTa p.R703L NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 69 GAAGCATCTCGAATTTTTTTC 0.418000 0 SO:0001583 missense ENST00000284476.6 0 1 hg19 CCDS1536.1 . . . . . . . . . . G 18.85 3.711729 0.68730 . . ENSG00000154309 ENST00000284476 D 0.86030 -2.06 5.91 5.91 0.95273 . 0.104774 0.64402 D 0.000005 D 0.91195 0.7226 L 0.59436 1.845 0.54753 D 0.999989 D 0.61697 0.99 D 0.69307 0.963 D 0.90102 0.4185 10 0.49607 T 0.09 -28.8962 20.2983 0.98569 0.0:0.0:1.0:0.0 . 703 Q96F81 DISP1_HUMAN L 703 ENSP00000284476:R703L ENSP00000284476:R703L R + 2 0 DISP1 221243470 1.000000 0.71417 0.236000 0.24074 0.984000 0.73092 6.665000 0.74442 2.802000 0.96397 0.655000 0.94253 CGA TCGA-HZ-A8P0-01A-11D-A36O-08 DISP1-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092512.1 0 0 0 8 864 0 166 0 3.969421e-03 0 9 0 166 2 0 0 0 0 0 2 1 0.988820 8 853 0 165 2 0 0 0 0 166 2 -2.329120 0 1 0 0 1 1 3 4 2.728117 1 0.380000 1.960000 0.545721 0.060000 1.000000e-02 1.000000 0.080000 0.100331 0.060000 0 3.000000e-02 1.100000e-01 TTC13 79573 broad.mit.edu 37 1 231044752 231044752 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:231044752G>A ENST00000366661.4 - 21 2331 c.2324C>T c.(2323-2325)tCg>tTg p.S775L TTC13_ENST00000366662.4_Missense_Mutation_p.S721L|TTC13_ENST00000414259.1_Missense_Mutation_p.S722L NM_024525.4 NP_078801.3 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 39 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) CACGATGACCGAGTAAGCAAT 0.423000 0 SO:0001583 missense ENST00000366661.4 1 1 hg19 CCDS1588.1 . . . . . . . . . . G 16.95 3.262382 0.59431 . . ENSG00000143643 ENST00000366661;ENST00000366662;ENST00000414259 T;T;T 0.42900 0.96;1.0;1.0 5.53 5.53 0.82687 . 0.063181 0.64402 D 0.000003 T 0.30324 0.0761 N 0.25647 0.755 0.80722 D 1 B;P;P;P 0.50066 0.343;0.76;0.846;0.931 B;B;B;B 0.34652 0.009;0.122;0.187;0.184 T 0.11372 -1.0590 10 0.40728 T 0.16 -11.9623 19.4529 0.94875 0.0:0.0:1.0:0.0 . 700;722;721;775 Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0 .;.;.;TTC13_HUMAN L 775;721;722 ENSP00000355621:S775L;ENSP00000355622:S721L;ENSP00000416631:S722L ENSP00000355621:S775L S - 2 0 TTC13 229111375 1.000000 0.71417 0.972000 0.41901 0.954000 0.61252 8.920000 0.92779 2.595000 0.87683 0.655000 0.94253 TCG TCGA-HZ-A8P0-01A-11D-A36O-08 TTC13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092229.2 1 0 1 75 581 0 122 1 9.765735e-01 9 39 0 122 2 0 0 0 0 0 2 1 1.000000 74 573 0 122 2 0 0 0 0 122 2 -3.017764 1 1 121412 1 31 1 1 3 4 2.740950 1 0.380000 1.960000 0.548237 0.820000 6.500000e-01 1.000000 0.830000 0.833296 0.820000 0 7.300000e-01 9.300000e-01 OR2M5 127059 broad.mit.edu 37 1 248309316 248309316 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:248309316C>A ENST00000366476.1 + 1 867 c.867C>A c.(865-867)atC>atA p.I289I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCCCCTCATCTACAGCCTCC 0.493000 0 SO:0001819 synonymous_variant ENST00000366476.1 1 1 hg19 CCDS31105.1 TCGA-HZ-A8P0-01A-11D-A36O-08 OR2M5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000097343.1 1 0 0 99 612 0 135 0 0 0 0 135 2 0 0 0 0 0 2 1 1.000000 98 602 0 133 2 0 0 0 0 135 2 -20.000000 1 1 0 0 1 1 3 4 2.740950 1 0.380000 1.960000 0.548237 0.990000 8.200000e-01 1.000000 1.000000 0.968151 0.990000 1 9.100000e-01 1 SLC6A9 6536 broad.mit.edu 37 1 44463406 44463406 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr1:44463406C>A ENST00000360584.2 - 14 2123 c.1932G>T c.(1930-1932)ttG>ttT p.L644F SLC6A9_ENST00000475075.2_Missense_Mutation_p.L460F|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L590F|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372310.3_Missense_Mutation_p.L571F|SLC6A9_ENST00000372307.3_Intron NM_201649.3 NP_964012.2 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TGGCATTTTTCAAACGCTGCA 0.647000 0 SO:0001583 missense ENST00000360584.2 0 1 hg19 CCDS41317.1 . . . . . . . . . . C 14.48 2.547710 0.45383 . . ENSG00000196517 ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730 T;T;T;T 0.75821 -0.9;-0.95;-0.97;-0.93 4.92 4.92 0.64577 . 0.000000 0.64402 D 0.000001 T 0.75817 0.3901 L 0.40543 1.245 0.80722 D 1 D;B;B;D 0.65815 0.986;0.251;0.063;0.995 P;B;B;P 0.57425 0.655;0.098;0.073;0.82 T 0.75975 -0.3128 10 0.49607 T 0.09 . 11.4173 0.49960 0.0:0.9164:0.0:0.0836 . 575;571;590;644 B7Z3W8;P48067-2;P48067-3;P48067 .;.;.;SC6A9_HUMAN F 571;460;644;590 ENSP00000361384:L571F;ENSP00000434460:L460F;ENSP00000353791:L644F;ENSP00000350362:L590F ENSP00000350362:L590F L - 3 2 SLC6A9 44235993 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 4.373000 0.59537 2.553000 0.86117 0.609000 0.83330 TTG TCGA-HZ-A8P0-01A-11D-A36O-08 SLC6A9-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000022825.2 0 0 0 7 597 0 140 0 3.891117e-03 0 7 0 140 2 0 0 0 0 0 2 1 0.979996 7 591 0 139 2 0 0 0 0 140 2 -2.879119 1 1 0 0 1 0 0 0 2.007290 0 0.380000 1.960000 0.377635 0.060000 2.000000e-02 0.120000 0.060000 0.069056 0.060000 0 3.000000e-02 9.000000e-02 CXCR4 7852 broad.mit.edu 37 2 136873279 136873279 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:136873279C>T ENST00000241393.3 - 2 323 c.219G>A c.(217-219)acG>acA p.T73T CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Silent_p.T77T NM_003467.2 NP_003458.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 p.T77T(1) 25 Framycetin(DB00452)|Plerixafor(DB06809) TGTACTTGTCCGTCATGCTTC 0.517000 1 Substitution - coding silent(1) SO:0001819 synonymous_variant ENST00000241393.3 1 1 hg19 CCDS46420.1 TCGA-HZ-A8P0-01A-11D-A36O-08 CXCR4-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000331732.1 1 0 1 76 346 0 110 1 1 10 156 0 110 2 0 0 0 0 0 2 1 1.000000 76 341 0 110 2 0 0 0 0 110 2 -2.675627 1 1 0 0 1 0 0 0 1.995583 0 0.380000 1.960000 0.375252 0.930000 7.500000e-01 1.000000 1.000000 0.926951 0.930000 1 8.400000e-01 1 NEB 4703 broad.mit.edu 37 2 152466350 152466350 + Silent SNP T T C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:152466350T>C ENST00000172853.10 - 77 11721 c.11574A>G c.(11572-11574)gcA>gcG p.A3858A NEB_ENST00000603639.1_Silent_p.A4101A|NEB_ENST00000409198.1_Silent_p.A3858A|NEB_ENST00000427231.2_Silent_p.A4101A|NEB_ENST00000604864.1_Silent_p.A4101A|NEB_ENST00000397345.3_Silent_p.A4101A P20929 NEBU_HUMAN nebulin 301 AGGCCTTTTTTGCTTGGATAA 0.448000 0 SO:0001819 synonymous_variant ENST00000172853.10 1 1 hg19 TCGA-HZ-A8P0-01A-11D-A36O-08 NEB-201 KNOWN basic protein_coding protein_coding 1 0 1 116 506 0 166 0 0 0 0 166 2 0 0 0 0 0 2 1 1.000000 113 499 0 161 2 0 0 0 0 166 2 -20.000000 1 1 0 0 1 0 0 0 1.995583 0 0.380000 1.960000 0.375252 0.960000 8.100000e-01 1.000000 1.000000 0.954296 0.960000 1 8.800000e-01 1 SCN1A 6323 broad.mit.edu 37 2 166911170 166911170 + Missense_Mutation SNP C C A rs121917935 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:166911170C>A ENST00000303395.4 - 4 579 c.580G>T c.(580-582)Gat>Tat p.D194Y AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D194Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.D194Y|SCN1A_ENST00000423058.2_Missense_Mutation_p.D194Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 200 Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909) ACAGTGAAATCGAGCCAGTTC 0.338000 0 GRCh37 CM067004 SCN1A M rs121917935 SO:0001583 missense ENST00000303395.4 0 1 hg19 CCDS54413.1 . . . . . . . . . . C 25.3 4.620307 0.87460 . . ENSG00000144285 ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050 D;D;D;D 0.99399 -5.83;-5.83;-5.83;-5.83 5.24 5.24 0.73138 Ion transport (1); 0.000000 0.64402 D 0.000002 D 0.99837 0.9926 H 0.99855 4.85 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.989;1.0;0.999 D 0.96333 0.9245 10 0.87932 D 0 . 19.1745 0.93599 0.0:1.0:0.0:0.0 . 194;194;194 P35498-2;E9PG49;P35498 .;.;SCN1A_HUMAN Y 194 ENSP00000407030:D194Y;ENSP00000303540:D194Y;ENSP00000364554:D194Y;ENSP00000386312:D194Y ENSP00000303540:D194Y D - 1 0 SCN1A 166619416 1.000000 0.71417 0.998000 0.56505 0.989000 0.77384 7.726000 0.84824 2.597000 0.87782 0.561000 0.74099 GAT TCGA-HZ-A8P0-01A-11D-A36O-08 SCN1A-001 KNOWN non_canonical_U12|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000102661.1 0 0 0 5 271 0 60 0 0 0 0 60 2 0 0 0 0 0 2 1 0.934433 5 265 0 60 2 0 0 0 0 60 2 -2.719573 1 1 0 0 1 0 0 0 1.995583 0 0.380000 1.960000 0.375252 0.100000 3.000000e-02 0.210000 0.100000 0.112055 0.100000 0 6.000000e-02 1.500000e-01 ITGAV 3685 broad.mit.edu 37 2 187506230 187506230 + Silent SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:187506230G>T ENST00000261023.3 + 12 1348 c.1074G>T c.(1072-1074)acG>acT p.T358T ITGAV_ENST00000374907.3_Silent_p.T322T|ITGAV_ENST00000433736.2_Silent_p.T312T|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) Antithymocyte globulin(DB00098) ACTTCCAGACGACAAAGCTGA 0.498000 Melanoma(58;108 1995 6081) 0 SO:0001819 synonymous_variant ENST00000261023.3 0 1 hg19 CCDS2292.1 TCGA-HZ-A8P0-01A-11D-A36O-08 ITGAV-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255882.2 0 0 0 7 818 0 209 0 5.568517e-02 0 38 0 209 2 0 0 0 0 0 2 1 0.980384 8 814 0 209 2 0 0 0 0 209 2 -2.213597 0 1 0 0 1 0 0 0 1.995583 0 0.380000 1.960000 0.375252 0.040000 1.000000e-02 0.090000 0.040000 0.050504 0.040000 0 2.000000e-02 7.000000e-02 SPHKAP 80309 broad.mit.edu 37 2 228860288 228860288 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:228860288G>A ENST00000392056.3 - 8 4617 c.4571C>T c.(4570-4572)gCc>gTc p.A1524V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1524V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) TTCCTCATTGGCAAGCTGGGT 0.572000 0 SO:0001583 missense ENST00000392056.3 0 1 hg19 CCDS46537.1 . . . . . . . . . . G 14.87 2.664572 0.47572 . . ENSG00000153820 ENST00000392056;ENST00000344657 T;T 0.13901 2.55;2.56 6.06 4.04 0.47022 . 0.287377 0.39020 N 0.001482 T 0.14227 0.0344 L 0.49126 1.545 0.43292 D 0.995273 B;P 0.42908 0.18;0.793 B;B 0.39971 0.044;0.315 T 0.02596 -1.1136 10 0.48119 T 0.1 . 11.0015 0.47609 0.1936:0.0:0.8064:0.0 . 1524;1524 Q2M3C7;Q2M3C7-2 SPKAP_HUMAN;. V 1524 ENSP00000375909:A1524V;ENSP00000339886:A1524V ENSP00000339886:A1524V A - 2 0 SPHKAP 228568532 1.000000 0.71417 0.908000 0.35775 0.542000 0.35054 2.352000 0.44080 1.570000 0.49709 0.655000 0.94253 GCC TCGA-HZ-A8P0-01A-11D-A36O-08 SPHKAP-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000331750.1 0 0 0 7 582 1 159 0 0 0 1 159 2 0 0 0 0 0 2 0 0.087473 9 573 1 157 14 0 0 0 1 159 2 -2.642522 1 1 0 0 1 0 0 0 1.995583 0 0.380000 1.960000 0.375252 0.060000 2.000000e-02 0.120000 0.060000 0.070522 0.060000 0 3.000000e-02 9.000000e-02 CD207 50489 broad.mit.edu 37 2 71060828 71060828 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr2:71060828G>A ENST00000410009.3 - 3 559 c.514C>T c.(514-516)Cgg>Tgg p.R172W NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 20 TGGAGTGCCCGGATCTTTGTA 0.428000 0 SO:0001583 missense ENST00000410009.3 1 1 hg19 . . . . . . . . . . G 6.526 0.465360 0.12402 0.0 1.22E-4 ENSG00000116031 ENST00000410009 T 0.29917 1.55 4.12 4.12 0.48240 . 1.382280 0.04510 N 0.382668 T 0.25568 0.0622 L 0.27053 0.805 0.09310 N 1 D 0.67145 0.996 B 0.39590 0.304 T 0.32719 -0.9896 10 0.59425 D 0.04 . 12.1703 0.54155 0.0:0.0:1.0:0.0 . 172 Q9UJ71 CLC4K_HUMAN W 172 ENSP00000386378:R172W ENSP00000386378:R172W R - 1 2 CD207 70914336 0.043000 0.20138 0.029000 0.17559 0.004000 0.04260 1.111000 0.31159 2.568000 0.86640 0.655000 0.94253 CGG TCGA-HZ-A8P0-01A-11D-A36O-08 CD207-001 KNOWN non_canonical_conserved|basic|appris_principal protein_coding protein_coding OTTHUMT00000329959.4 1 0 1 45 196 0 58 0 0 0 1 0 58 2 0 0 0 0 0 2 1 1.000000 45 193 0 58 2 0 0 0 0 58 2 -3.489613 1 1 120810 2 35 1 0 0 0 2.001662 0 0.380000 1.960000 0.375252 0.970000 7.300000e-01 1.000000 1.000000 0.938314 0.970000 1 8.400000e-01 1 GAR1 54433 broad.mit.edu 37 4 110740164 110740164 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:110740164C>A ENST00000226796.6 + 4 641 c.377C>A c.(376-378)tCa>tAa p.S126* GAR1_ENST00000394631.3_Nonsense_Mutation_p.S126* NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 9 TAGTATTTTTCAGTTAAGTTG 0.299000 0 SO:0001587 stop_gained ENST00000226796.6 0 1 hg19 CCDS34050.1 . . . . . . . . . . C 38 7.040121 0.98021 . . ENSG00000109534 ENST00000394631;ENST00000226796 . . . 5.48 5.48 0.80851 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 18.9407 0.92604 0.0:1.0:0.0:0.0 . . . . X 126 . ENSP00000226796:S126X S + 2 0 GAR1 110959613 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 6.681000 0.74523 2.573000 0.86826 0.591000 0.81541 TCA TCGA-HZ-A8P0-01A-11D-A36O-08 GAR1-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000363810.2 0 0 0 10 404 0 85 0 4.445618e-01 0 58 0 85 2 0 0 0 0 0 2 1 0.996846 10 401 0 84 2 0 0 0 0 85 2 -2.995502 1 1 0 0 1 1 2 3 2.016802 0 0.380000 1.960000 0.381176 0.130000 6.000000e-02 0.230000 0.120000 0.138889 0.130000 0 9.000000e-02 1.800000e-01 PLRG1 5356 broad.mit.edu 37 4 155458483 155458483 + Silent SNP A A C TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 A C A A Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:155458483A>C ENST00000499023.2 - 14 1566 c.1440T>G c.(1438-1440)gcT>gcG p.A480A PLRG1_ENST00000302078.5_Silent_p.A471A|PLRG1_ENST00000393905.2_Silent_p.A480A NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 22 all_hematologic(180;0.215) Renal(120;0.0854) TATCAGCTTCAGCTGTTAGTA 0.408000 0 SO:0001819 synonymous_variant ENST00000499023.2 1 1 hg19 CCDS34083.1 TCGA-HZ-A8P0-01A-11D-A36O-08 PLRG1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364824.1 1 0 1 52 265 0 65 1 9.999927e-01 21 71 0 65 2 0 0 0 0 0 2 1 1.000000 51 263 0 65 2 0 0 0 0 65 2 -20.000000 1 1 121402 6 38 1 1 2 3 2.016802 0 0.380000 1.960000 0.381176 0.860000 6.600000e-01 1.000000 1.000000 0.864340 0.860000 1 7.500000e-01 9.800000e-01 SORBS2 8470 broad.mit.edu 37 4 186544436 186544436 + Nonsense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr4:186544436G>T ENST00000284776.7 - 13 2644 c.2135C>A c.(2134-2136)tCg>tAg p.S712* SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Nonsense_Mutation_p.S712*|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.S616*|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.S812*|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron NM_021069.4 NP_066547.1 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) CTTAGGAGCCGAATTTTTTTT 0.448000 Esophageal Squamous(153;41 2433 9491 36028) 0 SO:0001587 stop_gained ENST00000284776.7 0 1 hg19 CCDS3845.1 . . . . . . . . . . G 36 5.837571 0.97009 . . ENSG00000154556 ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634 . . . 5.88 5.0 0.66597 . 0.741300 0.13760 N 0.364655 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -0.1252 11.2173 0.48833 0.0951:0.0:0.9049:0.0 . . . . X 712;712;616;812 . ENSP00000284776:S712X S - 2 0 SORBS2 186781430 0.872000 0.30054 0.002000 0.10522 0.045000 0.14185 4.786000 0.62425 1.371000 0.46172 0.561000 0.74099 TCG TCGA-HZ-A8P0-01A-11D-A36O-08 SORBS2-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000347944.3 0 0 0 7 769 1 237 0 0 0 1 237 2 0 0 0 0 0 2 0 0.125135 7 763 1 233 13 0 0 0 1 237 2 -2.135062 0 1 0 0 1 1 2 3 2.016802 0 0.380000 1.960000 0.381176 0.040000 1.000000e-02 0.100000 0.050000 0.054186 0.040000 0 2.000000e-02 7.000000e-02 ST8SIA4 7903 broad.mit.edu 37 5 100191950 100191950 + Silent SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:100191950C>A ENST00000231461.5 - 4 964 c.654G>T c.(652-654)ctG>ctT p.L218L NM_005668.4 NP_005659.1 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) CACTGTCATTCAGCATGGAAA 0.398000 0 SO:0001819 synonymous_variant ENST00000231461.5 0 1 hg19 CCDS4091.1 TCGA-HZ-A8P0-01A-11D-A36O-08 ST8SIA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250632.3 0 0 0 6 435 0 99 0 2.733852e-03 0 5 0 99 2 0 0 0 0 0 2 1 0.962386 6 424 0 98 2 0 0 0 0 99 2 -2.647119 1 1 0 0 1 0 0 0 2.008297 0 0.380000 1.960000 0.377635 0.070000 2.000000e-02 0.150000 0.080000 0.082552 0.070000 0 4.000000e-02 1.100000e-01 FAT2 2196 broad.mit.edu 37 5 150947407 150947407 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr5:150947407G>T ENST00000261800.5 - 1 1098 c.1086C>A c.(1084-1086)ttC>ttA p.F362L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCCTTCTCGAATTTGAGGG 0.547000 0 SO:0001583 missense ENST00000261800.5 0 1 hg19 CCDS4317.1 . . . . . . . . . . G 16.35 3.097914 0.56075 . . ENSG00000086570 ENST00000261800 T 0.65178 -0.14 5.49 -3.3 0.05003 Cadherin (1);Cadherin-like (1); 0.000000 0.64402 D 0.000005 T 0.73697 0.3620 M 0.79123 2.44 0.49915 D 0.999835 D 0.76494 0.999 D 0.79108 0.992 T 0.73636 -0.3920 10 0.54805 T 0.06 . 12.1639 0.54119 0.6671:0.0:0.3329:0.0 . 362 Q9NYQ8 FAT2_HUMAN L 362 ENSP00000261800:F362L ENSP00000261800:F362L F - 3 2 FAT2 150927600 0.783000 0.28701 0.420000 0.26596 0.667000 0.39255 0.121000 0.15667 -0.646000 0.05452 -0.997000 0.02515 TTC TCGA-HZ-A8P0-01A-11D-A36O-08 FAT2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252434.1 0 0 0 6 466 0 83 0 0 0 0 83 2 0 0 0 0 0 2 1 0.964259 6 462 0 82 2 0 0 0 0 83 2 -3.015943 1 1 0 0 1 0 0 0 2.008297 0 0.380000 1.960000 0.377635 0.060000 2.000000e-02 0.140000 0.060000 0.077177 0.060000 0 4.000000e-02 1.100000e-01 PTPRK 5796 broad.mit.edu 37 6 128294292 128294292 + Missense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:128294292C>A ENST00000368215.3 - 29 4140 c.4141G>T c.(4141-4143)Ggg>Tgg p.G1381W PTPRK_ENST00000368227.3_Missense_Mutation_p.G1399W|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1382W|PTPRK_ENST00000532331.1_Missense_Mutation_p.G1404W|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1388W|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1414W|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1400W Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K PTPRK/RSPO3(10) 72 CCACTTCGCCCGCCACCATTT 0.428000 0 SO:0001583 missense ENST00000368215.3 0 1 hg19 . . . . . . . . . . C 24.3 4.517548 0.85495 . . ENSG00000152894 ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207 T;T;T;T;T;T;T 0.30182 1.54;1.54;1.54;1.54;1.54;1.54;1.54 5.52 5.52 0.82312 Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1); 0.000000 0.85682 D 0.000000 T 0.71434 0.3339 H 0.98936 4.375 0.80722 D 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 1.0;1.0;1.0;1.0 D 0.83626 0.0142 10 0.87932 D 0 . 19.7822 0.96420 0.0:1.0:0.0:0.0 . 1404;1388;1381;1382 B7ZMG0;Q15262-3;Q15262;Q15262-2 .;.;PTPRK_HUMAN;. W 1382;1399;1404;1388;1400;1381;1414 ENSP00000357209:G1382W;ENSP00000357210:G1399W;ENSP00000432973:G1404W;ENSP00000357196:G1388W;ENSP00000357193:G1400W;ENSP00000357198:G1381W;ENSP00000357190:G1414W ENSP00000357190:G1414W G - 1 0 PTPRK 128335985 1.000000 0.71417 0.945000 0.38365 0.728000 0.41692 7.776000 0.85560 2.750000 0.94351 0.655000 0.94253 GGG TCGA-HZ-A8P0-01A-11D-A36O-08 PTPRK-005 KNOWN basic|appris_candidate protein_coding protein_coding OTTHUMT00000042163.1 0 0 0 6 467 0 131 0 3.920894e-01 0 94 0 131 2 0 0 0 0 0 2 1 0.897156 6 313 0 97 2 0 0 0 0 131 2 -1.822784 0 1 0 0 1 0 0 0 1.981112 0 0.380000 1.960000 0.367992 0.060000 2.000000e-02 0.140000 0.060000 0.075828 0.060000 0 4.000000e-02 1.000000e-01 TNFAIP3 7128 broad.mit.edu 37 6 138199962 138199962 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:138199962C>T ENST00000237289.4 + 7 1446 c.1380C>T c.(1378-1380)gcC>gcT p.A460A NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 p.0?(25)|p.P450fs*21(1) 225 Breast(32;0.135)|Colorectal(23;0.24) CTCATTCGGCCCCACCGACAG 0.642000 D, N, F marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma GBM(130;153 1739 22295 28918 47987) Rec yes 6 6q23 7128 tumor necrosis factor, alpha-induced protein 3 L 26 Whole gene deletion(25)|Deletion - Frameshift(1) SO:0001819 synonymous_variant ENST00000237289.4 1 1 hg19 CCDS5187.1 TCGA-HZ-A8P0-01A-11D-A36O-08 TNFAIP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000042414.1 1 0 1 28 171 0 40 1 9.121458e-01 2 25 0 40 2 0 0 0 0 0 2 1 1.000000 28 167 0 39 2 0 0 0 0 40 2 -20.000000 1 1 0 0 1 0 0 0 1.981112 0 0.380000 1.960000 0.367992 0.720000 5.000000e-01 0.980000 0.720000 0.737023 0.720000 0 6.000000e-01 8.600000e-01 BRD2 6046 broad.mit.edu 37 6 32945220 32945220 + Splice_Site SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:32945220G>A ENST00000374825.4 + 8 2903 c.1202G>A c.(1201-1203)cGg>cAg p.R401Q BRD2_ENST00000395289.2_Splice_Site_p.R401Q|BRD2_ENST00000374831.4_Splice_Site_p.R401Q|BRD2_ENST00000443797.2_Splice_Site_p.R281Q|BRD2_ENST00000449085.2_Splice_Site_p.R354Q|BRD2_ENST00000395287.1_Splice_Site_p.R401Q NM_005104.3 NP_005095.1 P25440 BRD2_HUMAN bromodomain containing 2 5 CTTCTGCAGCGGAAGATGGAG 0.527000 0 SO:0001630 splice_region_variant ENST00000374825.4 0 1 hg19 CCDS4762.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 16.70|16.70 3.196084|3.196084 0.58126|0.58126 .|. .|. ENSG00000204256|ENSG00000204256 ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085 .|T;T;T;T;T;T .|0.27402 .|1.67;1.67;1.67;1.67;1.67;1.67 5.25|5.25 5.25|5.25 0.73442|0.73442 .|Bromodomain (5);Bromodomain, conserved site (1); .|0.000000 .|0.45606 .|D .|0.000343 T|T 0.06735|0.06735 0.0172|0.0172 N|N 0.16790|0.16790 0.44|0.44 0.58432|0.58432 D|D 0.999994|0.999994 .|P;B .|0.38992 .|0.653;0.185 .|B;B .|0.21708 .|0.036;0.012 T|T 0.13202|0.13202 -1.0518|-1.0518 5|10 .|0.33141 .|T .|0.24 -13.4946|-13.4946 9.6958|9.6958 0.40156|0.40156 0.0911:0.0:0.9089:0.0|0.0911:0.0:0.9089:0.0 .|. .|401;401 .|A2AAU0;P25440 .|.;BRD2_HUMAN R|Q 407|401;401;401;281;401;354 .|ENSP00000363958:R401Q;ENSP00000363964:R401Q;ENSP00000378704:R401Q;ENSP00000413495:R281Q;ENSP00000378702:R401Q;ENSP00000409145:R354Q .|ENSP00000363958:R401Q G|R +|+ 1|2 0|0 BRD2|BRD2 33053198|33053198 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 1.760000|1.760000 0.38430|0.38430 2.730000|2.730000 0.93505|0.93505 0.643000|0.643000 0.83706|0.83706 GGA|CGG TCGA-HZ-A8P0-01A-11D-A36O-08 BRD2-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000076503.2 0 0 0 5 585 0 163 0 6.299104e-01 0 231 0 163 2 0 0 0 0 0 2 1 0.936940 5 582 0 162 2 0 0 0 0 163 2 -2.025574 0 1 0 0 1 0 0 0 1.972772 0 0.380000 1.960000 0.365534 0.040000 0 0.100000 0.040000 0.051917 0.040000 0 2.000000e-02 7.000000e-02 KLHL31 401265 broad.mit.edu 37 6 53519025 53519025 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr6:53519025G>A ENST00000407079.1 - 1 1045 c.1046C>T c.(1045-1047)aCg>aTg p.T349M KLHL31_ENST00000370905.3_Missense_Mutation_p.T349M Q9H511 KLH31_HUMAN kelch-like family member 31 20 Lung NSC(77;0.0158) TGGCATTTCCGTAAGCTTGCT 0.483000 0 SO:0001583 missense ENST00000407079.1 0 1 hg19 CCDS34478.1 . . . . . . . . . . G 17.70 3.453374 0.63290 . . ENSG00000124743 ENST00000370905;ENST00000407079 T;T 0.68025 -0.3;-0.3 5.25 5.25 0.73442 Galactose oxidase, beta-propeller (1); 0.095468 0.64402 D 0.000001 T 0.75852 0.3906 M 0.82716 2.605 0.58432 D 0.999994 D 0.76494 0.999 P 0.57283 0.817 T 0.80621 -0.1301 10 0.87932 D 0 . 15.4902 0.75600 0.0:0.1482:0.8518:0.0 . 349 Q9H511 KLH31_HUMAN M 349 ENSP00000359942:T349M;ENSP00000384644:T349M ENSP00000359942:T349M T - 2 0 KLHL31 53626984 1.000000 0.71417 0.994000 0.49952 0.980000 0.70556 7.818000 0.86416 2.467000 0.83353 0.561000 0.74099 ACG TCGA-HZ-A8P0-01A-11D-A36O-08 KLHL31-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040965.1 0 0 0 6 421 0 101 0 3.035724e-04 0 2 0 101 2 0 0 0 0 1 2 1 0.964195 6 417 0 99 2 0 0 0 0 101 2 -2.509507 1 1 0 0 1 0 0 0 1.981112 0 0.380000 1.960000 0.367992 0.070000 2.000000e-02 0.150000 0.070000 0.083919 0.070000 0 4.000000e-02 1.100000e-01 RIMS2 9699 broad.mit.edu 37 8 105026833 105026833 + Silent SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:105026833G>A ENST00000436393.2 + 17 2785 c.2544G>A c.(2542-2544)acG>acA p.T848T RIMS2_ENST00000507740.1_Silent_p.T922T|RIMS2_ENST00000406091.3_Silent_p.T1108T|RIMS2_ENST00000262231.10_Silent_p.T947T Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CAAAGGGAACGTTGGATAGAA 0.438000 HNSCC(12;0.0054) 0 SO:0001819 synonymous_variant ENST00000436393.2 1 1 hg19 TCGA-HZ-A8P0-01A-11D-A36O-08 RIMS2-007 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000367217.1 1 0 0 48 186 0 48 0 0 0 0 48 2 0 0 0 0 0 2 1 1.000000 48 184 0 48 2 0 0 0 0 48 2 -20.000000 1 1 0 0 1 1 2 3 2.024273 0 0.380000 1.960000 0.381176 0.990000 8.200000e-01 1.000000 1.000000 0.978832 0.990000 1 9.400000e-01 1 FAM83H 286077 broad.mit.edu 37 8 144812372 144812372 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:144812372C>T ENST00000388913.3 - 2 506 c.381G>A c.(379-381)caG>caA p.Q127Q MIR4664_ENST00000583819.1_RNA NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGGGCGGTGGCTGCACCAAGG 0.642000 0 SO:0001819 synonymous_variant ENST00000388913.3 1 1 hg19 CCDS6410.2 TCGA-HZ-A8P0-01A-11D-A36O-08 FAM83H-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257632.2 1 0 1 39 126 0 44 1 9.997998e-01 18 28 0 44 2 0 0 0 0 0 2 1 1.000000 38 125 0 43 2 0 0 0 0 44 2 -20.000000 1 1 0 0 1 1 2 3 2.024273 0 0.380000 1.960000 0.381176 0.990000 9.200000e-01 1.000000 1.000000 0.995601 0.990000 1 9.900000e-01 1 ZNF7 7553 broad.mit.edu 37 8 146067242 146067242 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:146067242C>T ENST00000528372.1 + 5 990 c.750C>T c.(748-750)taC>taT p.Y250Y ZNF7_ENST00000446747.2_Silent_p.Y261Y|ZNF7_ENST00000325241.6_Silent_p.Y250Y|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000544249.1_Silent_p.Y154Y|ZNF7_ENST00000529819.1_3'UTR|ZNF7_ENST00000525266.1_Intron P17097 ZNF7_HUMAN zinc finger protein 7 25 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) AGAAGCCGTACGAATGTGCAG 0.438000 0 SO:0001819 synonymous_variant ENST00000528372.1 1 1 hg19 CCDS6435.1 TCGA-HZ-A8P0-01A-11D-A36O-08 ZNF7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382660.1 1 0 0 81 328 0 91 1 9.782079e-01 3 24 0 91 2 0 0 0 0 0 2 1 1.000000 81 326 0 91 2 0 0 0 0 91 2 -20.000000 1 1 121412 3 38 1 1 2 3 2.068953 0 0.380000 1.960000 0.389283 0.990000 8.600000e-01 1.000000 1.000000 0.983633 0.990000 1 9.500000e-01 1 ZDHHC2 51201 broad.mit.edu 37 8 17067927 17067927 + Silent SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr8:17067927C>T ENST00000262096.8 + 10 1583 c.888C>T c.(886-888)tgC>tgT p.C296C NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 8 TTCCAACTTGCCTTGTTAACC 0.368000 0 SO:0001819 synonymous_variant ENST00000262096.8 0 1 hg19 CCDS47810.1 TCGA-HZ-A8P0-01A-11D-A36O-08 ZDHHC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376014.2 0 0 0 4 162 0 46 0 6.644295e-01 0 85 0 46 2 0 0 0 0 0 2 1 0.889923 4 161 0 46 2 0 0 0 0 46 2 -3.214261 1 1 0 0 1 1 2 3 2.024273 0 0.380000 1.960000 0.381176 0.140000 4.000000e-02 0.310000 0.120000 0.155412 0.140000 0 8.000000e-02 2.200000e-01 FOXD4 2298 broad.mit.edu 37 9 117739 117739 + Silent SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:117739G>T ENST00000382500.2 - 1 678 c.381C>A c.(379-381)ctC>ctA p.L127L NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) AGATGCCGCTGAGCGTGAGGC 0.637000 0 SO:0001819 synonymous_variant ENST00000382500.2 0 1 hg19 CCDS34975.1 TCGA-HZ-A8P0-01A-11D-A36O-08 FOXD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055433.1 0 0 0 9 858 0 365 0 0 0 0 365 2 0 0 0 0 0 2 1 0.982023 8 655 0 406 2 0 0 0 0 365 2 -2.352727 0 1 0 0 1 0.380000 1.960000 0 0 TNC 3371 broad.mit.edu 37 9 117846677 117846677 + Missense_Mutation SNP G G A rs149181557 by1000genomes TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:117846677G>A ENST00000350763.4 - 4 2353 c.1942C>T c.(1942-1944)Cgg>Tgg p.R648W TNC_ENST00000535648.1_Missense_Mutation_p.R648W|TNC_ENST00000346706.3_Missense_Mutation_p.R648W|TNC_ENST00000345230.3_Missense_Mutation_p.R648W|TNC_ENST00000423613.2_Missense_Mutation_p.R648W|TNC_ENST00000340094.3_Missense_Mutation_p.R648W|TNC_ENST00000341037.4_Missense_Mutation_p.R648W|TNC_ENST00000542877.1_Missense_Mutation_p.R648W|TNC_ENST00000537320.1_Missense_Mutation_p.R648W NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 120 TCTGTGACCCGCATCTCATTG 0.562000 0 SO:0001583 missense ENST00000350763.4 1 1 hg19 CCDS6811.1 2 9.157509157509158E-4 0 0.0 0 0.0 0 0.0 2 0.002638522427440633 G 19.75 3.885200 0.72410 0.0 2.33E-4 ENSG00000041982 ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877 T;T;T;T;T;T;T;T;T 0.57595 3.61;0.39;3.61;0.39;0.39;0.39;0.39;0.39;0.39 5.93 3.91 0.45181 Fibronectin, type III (4);Immunoglobulin-like fold (1); 0.343669 0.29459 N 0.012097 T 0.67420 0.2891 M 0.64404 1.975 0.38978 D 0.958897 D;D 0.89917 1.0;1.0 D;D 0.79784 0.987;0.993 T 0.72228 -0.4354 10 0.66056 D 0.02 . 12.0794 0.53662 0.0:0.1008:0.6328:0.2664 . 648;648 E9PC84;P24821 .;TENA_HUMAN W 648 ENSP00000344400:R648W;ENSP00000438152:R648W;ENSP00000344555:R648W;ENSP00000345861:R648W;ENSP00000265131:R648W;ENSP00000339553:R648W;ENSP00000411406:R648W;ENSP00000443478:R648W;ENSP00000442242:R648W ENSP00000344400:R648W R - 1 2 TNC 116886498 1.000000 0.71417 1.000000 0.80357 0.930000 0.56654 1.409000 0.34680 1.470000 0.48102 0.655000 0.94253 CGG TCGA-HZ-A8P0-01A-11D-A36O-08 TNC-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055418.2 1 0 1 63 270 0 104 0 8.570096e-01 0 17 0 104 2 1 1 199 1153 1 1206 6 1 1.000000 62 267 0 104 2 0 0 0 0 104 2 -3.094673 1 1 121412 11 45 1 1 2 3 2.017164 0 0.380000 1.960000 0.381176 0.990000 7.800000e-01 1.000000 1.000000 0.956309 0.990000 1 8.800000e-01 1 OR1J2 26740 broad.mit.edu 37 9 125273336 125273336 + Missense_Mutation SNP C C T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:125273336C>T ENST00000335302.5 + 1 256 c.256C>T c.(256-258)Cgg>Tgg p.R86W NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 26 GATGGACATGCGGACTAAGTA 0.428000 0 SO:0001583 missense ENST00000335302.5 0 1 hg19 CCDS35121.1 . . . . . . . . . . C 11.47 1.649512 0.29336 . . ENSG00000197233 ENST00000335302;ENST00000444856 T 0.01963 4.53 4.71 2.82 0.32997 GPCR, rhodopsin-like superfamily (1); 0.410669 0.17409 U 0.175258 T 0.01254 0.0041 N 0.02830 -0.485 0.20821 N 0.999849 B 0.02656 0.0 B 0.04013 0.001 T 0.46978 -0.9152 10 0.54805 T 0.06 . 8.7949 0.34874 0.0:0.7496:0.0:0.2504 . 86 Q8NGS2 OR1J2_HUMAN W 86 ENSP00000335575:R86W ENSP00000335575:R86W R + 1 2 OR1J2 124313157 0.000000 0.05858 0.273000 0.24645 0.016000 0.09150 -1.634000 0.02020 1.232000 0.43678 0.650000 0.86243 CGG TCGA-HZ-A8P0-01A-11D-A36O-08 OR1J2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000053932.1 0 0 0 6 529 1 135 0 0 0 1 135 2 0 0 0 0 0 2 0 0.035303 6 524 1 135 15 0 0 0 1 135 2 -2.002432 0 1 121374 1 20 1 1 2 3 2.017164 0 0.380000 1.960000 0.381176 0.060000 1.000000e-02 0.130000 0.060000 0.068554 0.060000 0 3.000000e-02 9.000000e-02 USP20 10868 broad.mit.edu 37 9 132623286 132623286 + Nonsense_Mutation SNP C C A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:132623286C>A ENST00000315480.4 + 7 559 c.401C>A c.(400-402)tCa>tAa p.S134* USP20_ENST00000372429.3_Nonsense_Mutation_p.S134*|USP20_ENST00000358355.1_Nonsense_Mutation_p.S134* Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 11 Ovarian(14;0.00556) GAGTCTGAGTCAGAGGACGAT 0.577000 0 SO:0001587 stop_gained ENST00000315480.4 0 1 hg19 CCDS43892.1 . . . . . . . . . . C 38 6.955403 0.97960 . . ENSG00000136878 ENST00000372429;ENST00000315480;ENST00000358355 . . . 5.66 5.66 0.87406 . 0.893214 0.09824 N 0.751070 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.05721 T 0.95 . 14.3494 0.66691 0.0:0.8522:0.1478:0.0 . . . . X 134 . ENSP00000313811:S134X S + 2 0 USP20 131663107 1.000000 0.71417 0.996000 0.52242 0.842000 0.47809 4.459000 0.60102 2.665000 0.90641 0.561000 0.74099 TCA TCGA-HZ-A8P0-01A-11D-A36O-08 USP20-003 KNOWN alternative_3_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054604.2 0 0 0 7 596 0 174 0 1.162114e-02 0 12 0 174 2 0 0 0 0 0 2 1 0.979995 7 590 0 174 2 0 0 0 0 174 2 -2.745178 1 1 0 0 1 1 2 3 2.017164 0 0.380000 1.960000 0.381176 0.060000 2.000000e-02 0.130000 0.060000 0.069569 0.060000 0 3.000000e-02 9.000000e-02 CACNA1B 774 broad.mit.edu 37 9 140968501 140968501 + Missense_Mutation SNP G G A TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:140968501G>A ENST00000371372.1 + 34 4985 c.4840G>A c.(4840-4842)Gcc>Acc p.A1614T CACNA1B_ENST00000371365.2_5'Flank|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A1614T|CACNA1B_ENST00000277549.5_Missense_Mutation_p.A808T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A1615T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A1612T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A1613T NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit p.A1614S(1) 80 all_cancers(76;0.166) Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661) CTTCATCTACGCCATCATCGG 0.622000 1 Substitution - Missense(1) SO:0001583 missense ENST00000371372.1 1 1 hg19 CCDS59522.1 . . . . . . . . . . G 36 5.943318 0.97128 . . ENSG00000148408 ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355 D;D;D;D;D;D 0.98400 -4.91;-4.91;-4.91;-4.91;-4.91;-4.91 5.18 5.18 0.71444 . 0.000000 0.85682 D 0.000000 D 0.99251 0.9739 M 0.93462 3.42 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.79108 0.992;0.992 D 0.99084 1.0838 10 0.87932 D 0 . 19.0507 0.93043 0.0:0.0:1.0:0.0 . 1613;1612 B1AQK7;B1AQK6 .;. T 1614;1614;808;1612;1613;1615 ENSP00000360423:A1614T;ENSP00000277551:A1614T;ENSP00000277549:A808T;ENSP00000360414:A1612T;ENSP00000360408:A1613T;ENSP00000360406:A1615T ENSP00000277549:A808T A + 1 0 CACNA1B 140088322 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.624000 0.98398 2.584000 0.87258 0.561000 0.74099 GCC TCGA-HZ-A8P0-01A-11D-A36O-08 CACNA1B-001 KNOWN non_canonical_conserved|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000055380.1 1 0 1 84 406 0 158 0 0 0 0 158 2 0 0 0 0 0 2 1 1.000000 83 402 0 155 2 0 0 0 0 158 2 -3.345227 1 1 121378 1 33 1 1 2 3 2.017164 0 0.380000 1.960000 0.381176 0.900000 7.300000e-01 1.000000 1.000000 0.900328 0.900000 1 8.100000e-01 1 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1459 Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1) GRCh37 CM940227 CDKN2A M rs121913387 SO:0001587 stop_gained ENST00000304494.5 0 1 hg19 CCDS6510.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 28.1|28.1 4.893482|4.893482 0.91889|0.91889 .|. .|. ENSG00000147889|ENSG00000147889 ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177 T;T|. 0.75367|. -0.93;-0.89|. 5.79|5.79 2.71|2.71 0.32032|0.32032 .|. 0.409080|. 0.18162|. N|. 0.149742|. T|. 0.29288|. 0.0729|. L|L 0.27053|0.27053 0.805|0.805 0.09310|0.09310 N|N 1|1 P|. 0.44006|. 0.824|. B|. 0.33121|. 0.158|. T|. 0.21381|. -1.0247|. 10|. 0.72032|0.13470 D|T 0.01|0.59 -3.0019|-3.0019 9.6681|9.6681 0.39996|0.39996 0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972 .|. 113|. Q8N726|. CD2A2_HUMAN|. L|X 113;72|58 ENSP00000355153:P113L;ENSP00000432664:P72L|. ENSP00000355153:P113L|ENSP00000307101:R58X P|R -|- 2|1 0|2 CDKN2A|CDKN2A 21961186|21961186 0.000000|0.000000 0.05858|0.05858 0.002000|0.002000 0.10522|0.10522 0.277000|0.277000 0.26821|0.26821 0.096000|0.096000 0.15147|0.15147 0.738000|0.738000 0.32606|0.32606 0.555000|0.555000 0.69702|0.69702 CCG|CGA TCGA-HZ-A8P0-01A-11D-A36O-08 CDKN2A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000051915.1 1 0 0 7 52 0 11 1 7.373807e-01 19 2 0 11 2 1 7.759876e-01 9 14 0 17 2 1 0.982864 7 52 0 11 2 0 0 0 0 11 2 -2.996906 1 1 0 0 1 0 1 1 1.661914 1 0.380000 1.960000 0.234568 0.500000 2.300000e-01 0.850000 0.480000 0.524357 0.500000 0 3.500000e-01 6.900000e-01 SPTLC1 10558 broad.mit.edu 37 9 94812277 94812277 + Missense_Mutation SNP G G T TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4c13c2-bf8e-4723-8a7c-341a512c02b7 041a6dc6-65d1-43d9-adb2-89c69d4b3e65 g.chr9:94812277G>T ENST00000262554.2 - 9 858 c.853C>A c.(853-855)Cat>Aat p.H285N NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 14 L-Serine(DB00133) CCTCGGCCATGCTCTCCTAGG 0.383000 0 SO:0001583 missense ENST00000262554.2 0 1 hg19 CCDS6692.1 . . . . . . . . . . G 4.415 0.076812 0.08485 . . ENSG00000090054 ENST00000262554 D 0.94687 -3.49 4.66 3.73 0.42828 Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1); 0.104209 0.64402 D 0.000004 D 0.89181 0.6642 L 0.31120 0.905 0.80722 D 1 B;B 0.06786 0.0;0.001 B;B 0.12837 0.006;0.008 D 0.84518 0.0626 10 0.20519 T 0.43 -8.1887 13.3483 0.60587 0.0782:0.0:0.9218:0.0 . 285;285 Q6NUL7;O15269 .;SPTC1_HUMAN N 285 ENSP00000262554:H285N ENSP00000262554:H285N H - 1 0 SPTLC1 93852098 1.000000 0.71417 1.000000 0.80357 0.988000 0.76386 4.383000 0.59600 2.411000 0.81874 0.551000 0.68910 CAT TCGA-HZ-A8P0-01A-11D-A36O-08 SPTLC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055553.1 0 0 0 7 639 0 138 0 1.819409e-01 0 62 0 138 2 0 0 0 0 0 2 1 0.980027 7 633 0 136 2 0 0 0 0 138 2 -2.664656 1 1 0 0 1 0 0 0 2.008917 0 0.380000 1.960000 0.377635 0.050000 2.000000e-02 0.110000 0.060000 0.064605 0.050000 0 3.000000e-02 9.000000e-02