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 MED14 9282 broad.mit.edu 37 X 40539348 40539348 + Frame_Shift_Del DEL T T - TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chrX:40539348delT ENST00000324817.1 - 21 2766 c.2648delA c.(2647-2649)aacfs p.N883fs MED14_ENST00000496531.2_Intron NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 39 GGGGAGTTTGTTGATGGCATT 0.463000 0 SO:0001589 frameshift_variant ENST00000324817.1 1 1 hg19 CCDS14254.1 TCGA-F2-A44G-01A-11D-A26I-08 MED14-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060692.1 0 0 0 55 474 0 198 0 8.573461e-01 0 32 0 198 2 0 0 0 0 0 0 1 1.000000 57 470 0 197 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 0.290000 1.940000 0.290000 0.710000 0.540000 0.900000 0.720000 0.723861 0.710000 0 6.200000e-01 8.100000e-01 GPR26 2849 broad.mit.edu 37 10 125426350 125426350 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr10:125426350G>A ENST00000284674.1 + 1 480 c.427G>A c.(427-429)Gcc>Acc p.A143T NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CGCCGCGCTCGCCCTGTCCTG 0.711000 0 SO:0001583 missense ENST00000284674.1 1 1 hg19 CCDS7636.1 . . . . . . . . . . G 8.529 0.870536 0.17322 . . ENSG00000154478 ENST00000284674 T 0.71579 -0.58 4.02 -0.719 0.11201 GPCR, rhodopsin-like superfamily (1); 0.365001 0.27764 N 0.017959 T 0.40815 0.1132 N 0.22421 0.69 0.27577 N 0.949701 P 0.42161 0.772 B 0.31495 0.131 T 0.39781 -0.9597 10 0.23302 T 0.38 -8.2856 3.0124 0.06048 0.0986:0.1142:0.2647:0.5225 . 143 Q8NDV2 GPR26_HUMAN T 143 ENSP00000284674:A143T ENSP00000284674:A143T A + 1 0 GPR26 125416340 1.000000 0.71417 0.565000 0.28409 0.004000 0.04260 4.445000 0.60007 0.030000 0.15379 -0.878000 0.02970 GCC TCGA-F2-A44G-01A-11D-A26I-08 GPR26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050850.1 1 0 1 20 117 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 0.999997 20 117 0 28 2 0 0 0 0 29 2 -20.000000 1 1 0 0 1 1 2 3 2.025644 0 0.290000 1.940000 0.292053 0.990000 0.650000 1.000000 1.000000 0.932100 0.990000 1 8.100000e-01 1 CPXM2 119587 broad.mit.edu 37 10 125506294 125506294 + Nonsense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr10:125506294G>A ENST00000241305.3 - 14 2411 c.2257C>T c.(2257-2259)Cga>Tga p.R753* CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) CCACGCTGTCGTCTCTTCTGC 0.577000 0 SO:0001587 stop_gained ENST00000241305.3 0 1 hg19 CCDS7637.1 . . . . . . . . . . G 39 7.799577 0.98495 . . ENSG00000121898 ENST00000241305;ENST00000540123;ENST00000418782 . . . 5.62 4.71 0.59529 . 0.133527 0.46145 D 0.000305 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.02654 T 1 -18.0889 13.5288 0.61611 0.0:0.0:0.7185:0.2815 . . . . X 753;586;728 . ENSP00000241305:R753X R - 1 2 CPXM2 125496284 1.000000 0.71417 0.543000 0.28128 0.885000 0.51271 3.065000 0.49994 1.347000 0.45714 0.655000 0.94253 CGA TCGA-F2-A44G-01A-11D-A26I-08 CPXM2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050853.1 1 0 1 75 465 0 129 0 9.995734e-01 0 72 0 129 2 0 0 0 0 0 2 1 1.000000 75 459 0 127 2 0 0 0 0 129 2 -20.000000 1 1 121412 1 32 1 1 2 3 2.025644 0 0.290000 1.940000 0.292053 0.950000 0.760000 1.000000 1.000000 0.939681 0.950000 1 8.500000e-01 1 MMP3 4314 broad.mit.edu 37 11 102708080 102708080 + Nonsense_Mutation SNP C C A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr11:102708080C>A ENST00000299855.5 - 9 1538 c.1282G>T c.(1282-1284)Gaa>Taa p.E428* WTAPP1_ENST00000525739.2_RNA NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Marimastat(DB00786) GGAAAGTCTTCAGCTATTTGC 0.393000 0 SO:0001587 stop_gained ENST00000299855.5 0 1 hg19 CCDS8323.1 . . . . . . . . . . C 12.74 2.028856 0.35797 . . ENSG00000149968 ENST00000299855 . . . 5.17 4.18 0.49190 . 1.143500 0.06851 N 0.797303 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.05351 T 0.99 . 14.2805 0.66208 0.0:0.9177:0.0:0.0823 . . . . X 428 . ENSP00000299855:E428X E - 1 0 MMP3 102213290 0.000000 0.05858 0.892000 0.35008 0.436000 0.31835 -0.170000 0.09897 2.687000 0.91594 0.655000 0.94253 GAA TCGA-F2-A44G-01A-11D-A26I-08 MMP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109758.2 1 0 0 51 460 0 124 0 7.483068e-01 0 26 0 124 2 0 0 0 0 0 2 1 1.000000 51 458 0 122 2 0 0 0 0 124 2 -16.647820 1 1 0 0 1 1 2 3 2.031189 0 0.290000 1.940000 0.294094 0.690000 0.520000 1.000000 0.690000 0.708416 0.690000 0 6.000000e-01 8.000000e-01 OR51B5 282763 broad.mit.edu 37 11 5364521 5364521 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr11:5364521C>T ENST00000300773.2 - 1 288 c.234G>A c.(232-234)acG>acA p.T78T HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) CTCCCAGCACCGTGGGCATTG 0.537000 0 SO:0001819 synonymous_variant ENST00000300773.2 1 1 hg19 CCDS31378.1 TCGA-F2-A44G-01A-11D-A26I-08 OR51B5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142975.1 1 0 0 45 288 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 1.000000 45 285 0 98 2 0 0 0 0 101 2 -3.222404 1 1 121412 3 32 1 1 2 3 2.025741 0 0.290000 1.940000 0.292053 0.930000 0.690000 1.000000 1.000000 0.915084 0.930000 1 8.100000e-01 1 RTN3 10313 broad.mit.edu 37 11 63520109 63520109 + Missense_Mutation SNP T T A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 T A T T Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr11:63520109T>A ENST00000377819.5 + 5 3023 c.2869T>A c.(2869-2871)Tcc>Acc p.S957T RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 20 TCTGGTTGACTCCTTGAAGGT 0.413000 0 SO:0001583 missense ENST00000377819.5 1 1 hg19 CCDS58141.1 . . . . . . . . . . T 29.6 5.019868 0.93462 . . ENSG00000133318 ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981 T;T;T;T;T;T 0.49432 0.78;0.78;0.78;0.78;0.78;0.78 5.64 5.64 0.86602 . 0.000000 0.85682 D 0.000000 T 0.69079 0.3071 M 0.76838 2.35 0.80722 D 1 D;D;D;D;D;D 0.76494 0.999;0.998;0.999;0.997;0.997;0.998 D;D;D;D;D;D 0.85130 0.997;0.996;0.994;0.919;0.993;0.994 T 0.73467 -0.3973 10 0.87932 D 0 -10.1047 13.8015 0.63204 0.0:0.0:0.0:1.0 . 845;957;161;161;938;180 F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4 .;RTN3_HUMAN;.;.;.;. T 161;180;957;938;845;161 ENSP00000340903:S161T;ENSP00000348279:S180T;ENSP00000367050:S957T;ENSP00000344106:S938T;ENSP00000442733:S845T;ENSP00000440874:S161T ENSP00000344106:S938T S + 1 0 RTN3 63276685 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.825000 0.86693 2.149000 0.67028 0.374000 0.22700 TCC TCGA-F2-A44G-01A-11D-A26I-08 RTN3-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000397846.1 1 0 1 119 778 0 340 1 1 107 219 0 340 2 0 0 0 0 0 2 1 1.000000 119 768 0 338 2 0 0 0 0 340 2 -20.000000 1 1 0 0 1 1 2 3 2.031189 0 0.290000 1.940000 0.294094 0.910000 0.770000 1.000000 1.000000 0.918485 0.910000 1 8.400000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr12:25398284C>T ENST00000256078.4 - 2 98 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) 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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_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 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) 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 . . . . . . . . . . C 23.4 4.409094 0.83340 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78595 -1.19;-1.19;-1.19;-1.19 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.85919 0.5809 M 0.91818 3.245 0.80722 D 1 B;P 0.35714 0.385;0.517 B;B 0.41619 0.257;0.361 D 0.87870 0.2670 10 0.87932 D 0 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN D 12 ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D ENSP00000256078:G12D G - 2 0 KRAS 25289551 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.743000 0.85020 2.668000 0.90789 0.563000 0.77884 GGT TCGA-F2-A44G-01A-11D-A26I-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 17 100 0 25 1 9.093047e-01 14 13 0 25 2 1 1 29 183 0 244 2 1 0.999976 17 99 0 25 2 1 1 1323 6691 0 25 2 -11.082890 1 1 121404 2 44 1 0 0 0 2.005076 0 0.290000 1.940000 0.285858 0.990000 0.610000 1.000000 1.000000 0.920561 0.990000 1 7.900000e-01 1 KRT76 51350 broad.mit.edu 37 12 53170616 53170616 + Nonsense_Mutation SNP C C A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr12:53170616C>A ENST00000332411.2 - 1 513 c.460G>T c.(460-462)Gga>Tga p.G154* NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 27 TCCTGAATTCCCCCAGGAAAG 0.577000 0 SO:0001587 stop_gained ENST00000332411.2 0 1 hg19 CCDS8838.1 . . . . . . . . . . C 29.6 5.017156 0.93404 . . ENSG00000185069 ENST00000332411 . . . 4.47 4.47 0.54385 . 0.000000 0.45606 D 0.000341 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 . 14.9243 0.70866 0.0:0.856:0.144:0.0 . . . . X 154 . ENSP00000330101:G154X G - 1 0 KRT76 51456883 0.765000 0.28485 0.996000 0.52242 0.746000 0.42486 2.690000 0.47001 2.775000 0.95449 0.555000 0.69702 GGA TCGA-F2-A44G-01A-11D-A26I-08 KRT76-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405928.1 1 0 1 36 234 0 38 0 0 0 0 38 2 0 0 0 0 0 2 1 1.000000 35 229 0 38 2 0 0 0 0 38 2 -16.906920 1 1 0 0 1 0 0 0 2.005076 0 0.290000 1.940000 0.285858 0.910000 0.650000 1.000000 1.000000 0.896815 0.910000 1 7.700000e-01 1 ZFYVE26 23503 broad.mit.edu 37 14 68274196 68274196 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr14:68274196G>A ENST00000347230.4 - 5 943 c.805C>T c.(805-807)Cgg>Tgg p.R269W ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 94 AGCAGGCCCCGGCTGGCCTTG 0.612000 0 SO:0001583 missense ENST00000347230.4 1 1 hg19 CCDS9788.1 . . . . . . . . . . G 9.505 1.104323 0.20632 . . ENSG00000072121 ENST00000347230;ENST00000411699;ENST00000555452 T;T 0.29142 1.72;1.58 5.57 1.59 0.23543 . 0.928117 0.09227 N 0.831027 T 0.25938 0.0632 L 0.47716 1.5 0.09310 N 1 B;B;B 0.09022 0.001;0.002;0.002 B;B;B 0.04013 0.0;0.0;0.001 T 0.26744 -1.0094 10 0.37606 T 0.19 -3.9128 7.1516 0.25614 0.1304:0.0:0.6248:0.2448 . 269;269;269 Q68DK2-4;G3V2D8;Q68DK2 .;.;ZFY26_HUMAN W 269;248;269 ENSP00000251119:R269W;ENSP00000450603:R269W ENSP00000251119:R269W R - 1 2 ZFYVE26 67343949 0.000000 0.05858 0.000000 0.03702 0.642000 0.38348 0.592000 0.23984 0.018000 0.15052 -0.424000 0.05967 CGG TCGA-F2-A44G-01A-11D-A26I-08 ZFYVE26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412736.2 1 0 1 39 215 0 57 0 2.473381e-02 0 2 0 57 2 0 0 0 0 0 2 1 1.000000 38 213 0 57 2 0 0 0 0 57 2 -3.333297 1 1 121412 4 33 1 1 2 3 2.035704 0 0.290000 1.940000 0.295110 0.990000 0.780000 1.000000 1.000000 0.970612 0.990000 1 9.100000e-01 1 AQR 9716 broad.mit.edu 37 15 35168180 35168180 + Missense_Mutation SNP C C A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr15:35168180C>A ENST00000156471.5 - 28 3418 c.3193G>T c.(3193-3195)Gct>Tct p.A1065S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) AGAATCTGAGCAGCCTCTTCC 0.343000 0 SO:0001583 missense ENST00000156471.5 1 1 hg19 CCDS42013.1 . . . . . . . . . . C 24.2 4.507263 0.85282 . . ENSG00000021776 ENST00000156471;ENST00000543879 T 0.80123 -1.34 5.03 4.1 0.47936 . 0.047169 0.85682 N 0.000000 D 0.87865 0.6285 M 0.66439 2.03 0.58432 D 0.999994 D 0.76494 0.999 D 0.77004 0.989 D 0.88104 0.2821 10 0.52906 T 0.07 -15.6622 14.693 0.69101 0.1464:0.8536:0.0:0.0 . 1065 O60306 AQR_HUMAN S 1065 ENSP00000156471:A1065S ENSP00000156471:A1065S A - 1 0 AQR 32955472 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.814000 0.86154 1.075000 0.40932 0.650000 0.86243 GCT TCGA-F2-A44G-01A-11D-A26I-08 AQR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000417526.2 1 0 1 50 371 0 130 1 5.513012e-01 4 11 0 130 2 0 0 0 0 0 2 1 1.000000 50 369 0 128 2 0 0 0 0 130 2 -18.773530 1 1 0 0 1 1 2 3 2.040059 0 0.290000 1.940000 0.295110 0.820000 0.620000 1.000000 1.000000 0.835510 0.820000 0 7.200000e-01 9.600000e-01 CCNF 899 broad.mit.edu 37 16 2495532 2495532 + Missense_Mutation SNP G G T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr16:2495532G>T ENST00000397066.4 + 10 1091 c.1003G>T c.(1003-1005)Gtg>Ttg p.V335L NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 20 Ovarian(90;0.17) GCACCTGACCGTGGAGTGTGT 0.607000 0 SO:0001583 missense ENST00000397066.4 1 1 hg19 CCDS10467.1 . . . . . . . . . . G 25.4 4.638473 0.87760 . . ENSG00000162063 ENST00000397066;ENST00000293968 T 0.15718 2.4 5.5 5.5 0.81552 Cyclin, N-terminal (2);Cyclin-like (3); 0.056215 0.64402 D 0.000001 T 0.48295 0.1492 M 0.87827 2.91 0.58432 D 0.999998 D 0.71674 0.998 D 0.67548 0.952 T 0.55490 -0.8133 10 0.87932 D 0 -26.3978 17.9615 0.89086 0.0:0.0:1.0:0.0 . 335 P41002 CCNF_HUMAN L 335;250 ENSP00000380256:V335L ENSP00000293968:V250L V + 1 0 CCNF 2435533 1.000000 0.71417 0.961000 0.40146 0.953000 0.61014 7.645000 0.83430 2.586000 0.87340 0.557000 0.71058 GTG TCGA-F2-A44G-01A-11D-A26I-08 CCNF-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250801.1 1 0 1 51 339 0 130 1 3.383518e-01 3 6 0 130 2 0 0 0 0 0 2 1 1.000000 51 330 0 127 2 0 0 0 0 130 2 -3.142791 1 1 0 0 1 1 2 3 2.041925 0 0.290000 1.940000 0.296124 0.910000 0.690000 1.000000 1.000000 0.904081 0.910000 1 7.900000e-01 1 GRIN2A 2903 broad.mit.edu 37 16 9934952 9934952 + Silent SNP G G T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr16:9934952G>T ENST00000396573.2 - 7 1647 c.1338C>A c.(1336-1338)acC>acA p.T446T GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 198 Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418) TCCCCTCATTGGTTGAATTGC 0.403000 0 SO:0001819 synonymous_variant ENST00000396573.2 1 1 hg19 CCDS10539.1 TCGA-F2-A44G-01A-11D-A26I-08 GRIN2A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251930.3 0 0 1 60 390 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 1.000000 60 386 0 111 2 0 0 0 0 111 2 -3.221939 1 1 0 0 1 1 2 3 2.041925 0 0.290000 1.940000 0.296124 0.930000 0.720000 1.000000 1.000000 0.918260 0.930000 1 8.200000e-01 1 MYH2 4620 broad.mit.edu 37 17 10432367 10432367 + Silent SNP G G A rs139130605 TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr17:10432367G>A ENST00000245503.5 - 27 3768 c.3384C>T c.(3382-3384)atC>atT p.I1128I RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 176 GCTCTGCCTCGATTTCCTCCT 0.582000 0 SO:0001819 synonymous_variant ENST00000245503.5 1 1 hg19 CCDS11156.1 TCGA-F2-A44G-01A-11D-A26I-08 MYH2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252726.3 1 0 1 58 330 0 100 0 0 0 0 100 2 0 0 0 0 0 2 1 1.000000 47 276 0 122 2 0 0 0 0 100 2 -20.000000 1 1 121396 12 40 1 0 1 1 1.761433 1 0.290000 1.940000 0.172398 0.860000 0.670000 1.000000 1.000000 0.861971 0.860000 1 7.600000e-01 9.500000e-01 DNAH9 1770 broad.mit.edu 37 17 11837209 11837209 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr17:11837209G>A ENST00000262442.4 + 65 12378 c.12310G>A c.(12310-12312)Gat>Aat p.D4104N DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 290 Breast(5;0.0122)|all_epithelial(5;0.131) CCCCTATGATGATTTGCGCTA 0.532000 0 SO:0001583 missense ENST00000262442.4 1 1 hg19 CCDS11160.1 . . . . . . . . . . G 27.2 4.813398 0.90790 . . ENSG00000007174 ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001 T;T;T 0.10192 2.9;2.9;2.9 5.0 5.0 0.66597 Dynein heavy chain (1); 0.000000 0.85682 D 0.000000 T 0.41119 0.1145 M 0.88031 2.925 0.80722 D 1 D 0.64830 0.994 D 0.71870 0.975 T 0.45556 -0.9253 10 0.66056 D 0.02 . 18.8498 0.92224 0.0:0.0:1.0:0.0 . 4104 Q9NYC9 DYH9_HUMAN N 4104;4028;2610;416 ENSP00000262442:D4104N;ENSP00000414874:D4028N;ENSP00000379323:D416N ENSP00000262442:D4104N D + 1 0 DNAH9 11777934 1.000000 0.71417 0.995000 0.50966 0.680000 0.39746 9.601000 0.98297 2.761000 0.94854 0.650000 0.86243 GAT TCGA-F2-A44G-01A-11D-A26I-08 DNAH9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252756.2 1 0 1 51 297 0 113 0 0 0 0 113 2 0 0 0 0 0 2 1 1.000000 50 294 0 112 2 0 0 0 0 113 2 -19.999930 1 1 0 0 1 0 1 1 1.761433 1 0.290000 1.940000 0.172398 0.840000 0.650000 1.000000 1.000000 0.846720 0.840000 0 7.400000e-01 9.400000e-01 JAK3 3718 broad.mit.edu 37 19 17943473 17943473 + Silent SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr19:17943473G>A ENST00000527670.1 - 18 2564 c.2535C>T c.(2533-2535)ggC>ggT p.G845G JAK3_ENST00000458235.1_Silent_p.G845G|JAK3_ENST00000534444.1_Silent_p.G845G P52333 JAK3_HUMAN Janus kinase 3 147 Tofacitinib(DB08895) CTGTATTGTCGCCTAGCGGGT 0.617000 2 Mis acute megakaryocytic leukemia, ETP ALL Dom yes 19 19p13.1 3718 Janus kinase 3 L 0 SO:0001819 synonymous_variant ENST00000527670.1 1 1 hg19 CCDS12366.1 TCGA-F2-A44G-01A-11D-A26I-08 JAK3-005 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385549.1 1 0 1 94 595 0 145 1 3.565613e-01 2 7 0 145 2 0 0 0 0 0 2 1 1.000000 93 585 0 144 2 0 0 0 0 145 2 -3.318797 1 1 121412 3 38 1 1 2 3 2.044205 0 0.290000 1.940000 0.296124 0.950000 0.770000 1.000000 1.000000 0.938149 0.950000 1 8.600000e-01 1 EEF2 1938 broad.mit.edu 37 19 3980040 3980040 + Nonsense_Mutation SNP G G T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 G T G G Valid Somatic Phase_I WXS targeted Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr19:3980040G>T ENST00000309311.6 - 10 1459 c.1371C>A c.(1369-1371)taC>taA p.Y457* SNORD37_ENST00000384048.1_RNA NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 21 Hepatocellular(1079;0.137) TGGGCTCCACGTAGCGGCCCA 0.627000 Colon(165;1804 1908 4071 6587 18799) 0 SO:0001587 stop_gained ENST00000309311.6 0 1 hg19 CCDS12117.1 . . . . . . . . . . G 36 5.671855 0.96754 . . ENSG00000167658 ENST00000543343;ENST00000309311 . . . 5.45 -4.98 0.03019 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 -38.4193 14.8867 0.70575 0.5244:0.0:0.4756:0.0 . . . . X 457 . ENSP00000307940:Y457X Y - 3 2 EEF2 3931040 0.000000 0.05858 0.873000 0.34254 0.950000 0.60333 -2.827000 0.00746 -0.965000 0.03591 -1.134000 0.01955 TAC TCGA-F2-A44G-01A-11D-A26I-08 EEF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457615.2 1 0 1 24 188 0 50 1 1 42 1753 0 50 2 1 1 69 370 0 470 2 1 1.000000 24 187 0 50 2 0 0 0 0 50 2 -20.000000 1 1 0 0 1 1 2 3 2.052462 0 0.290000 1.940000 0.297134 0.800000 0.530000 1.000000 1.000000 0.807482 0.800000 0 6.500000e-01 9.900000e-01 DHDH 27294 broad.mit.edu 37 19 49447742 49447742 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr19:49447742C>T ENST00000221403.2 + 6 913 c.873C>T c.(871-873)caC>caT p.H291H DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron NM_014475.3 NP_055290.1 Q9UQ10 DHDH_HUMAN dihydrodiol dehydrogenase (dimeric) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) AGGCCAAGCACGTCTGGGAGT 0.617000 0 SO:0001819 synonymous_variant ENST00000221403.2 1 1 hg19 CCDS12741.1 TCGA-F2-A44G-01A-11D-A26I-08 DHDH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381477.1 1 0 0 70 432 0 169 0 2.576603e-01 1 6 0 169 2 0 0 0 0 0 2 1 1.000000 69 428 0 168 2 0 0 0 0 169 2 -20.000000 1 1 120884 2 35 1 1 2 3 2.050566 0 0.290000 1.940000 0.297134 0.970000 0.770000 1.000000 1.000000 0.947341 0.970000 1 8.600000e-01 1 ZNF667 63934 broad.mit.edu 37 19 56953504 56953504 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr19:56953504C>T ENST00000504904.3 - 7 1579 c.860G>A c.(859-861)gGg>gAg p.G287E ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GAAGCCTCTCCCACATTTATT 0.363000 0 SO:0001583 missense ENST00000504904.3 1 1 hg19 CCDS12944.1 . . . . . . . . . . C 6.063 0.380022 0.11466 . . ENSG00000198046 ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518 T;T;T 0.35421 1.31;1.31;1.31 5.05 2.86 0.33363 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.500329 0.16953 N 0.192810 T 0.24851 0.0603 L 0.41356 1.27 0.25144 N 0.990479 P;P 0.39748 0.686;0.551 B;B 0.33960 0.173;0.085 T 0.11421 -1.0588 10 0.56958 D 0.05 -0.6017 7.2307 0.26040 0.0:0.7256:0.0:0.2744 . 415;287 E7EPS0;Q5HYK9 .;ZN667_HUMAN E 415;287;287;69 ENSP00000344699:G415E;ENSP00000439402:G287E;ENSP00000292069:G287E ENSP00000292069:G287E G - 2 0 ZNF667 61645316 0.021000 0.18746 0.015000 0.15790 0.010000 0.07245 2.416000 0.44644 0.676000 0.31285 0.591000 0.81541 GGG TCGA-F2-A44G-01A-11D-A26I-08 ZNF667-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000458394.1 1 0 1 61 500 0 134 0 3.400070e-02 0 3 0 134 2 0 0 0 0 0 2 1 1.000000 61 497 0 133 2 0 0 0 0 134 2 -3.075755 1 1 0 0 1 1 2 3 2.070933 0 0.290000 1.940000 0.301147 0.770000 0.590000 1.000000 0.760000 0.788680 0.770000 0 6.700000e-01 9.000000e-01 ZNF835 90485 broad.mit.edu 37 19 57175237 57175237 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr19:57175237G>A ENST00000537055.2 - 2 1561 c.1330C>T c.(1330-1332)Cgg>Tgg p.R444W NM_001005850.2 NP_001005850.2 Q9Y2P0 ZN835_HUMAN zinc finger protein 835 47 GTGTAGGGCCGCTCGCCCGTG 0.672000 0 SO:0001583 missense ENST00000537055.2 1 1 hg19 CCDS56105.1 . . . . . . . . . . G 15.48 2.845368 0.51164 . . ENSG00000127903 ENST00000342088;ENST00000537055 T 0.20332 2.08 2.15 -1.97 0.07503 Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1); . . . . T 0.44222 0.1283 M 0.83483 2.645 0.25382 N 0.988608 D 0.89917 1.0 D 0.73708 0.981 T 0.34576 -0.9823 9 0.87932 D 0 . 9.9557 0.41666 0.0:0.0:0.2207:0.7793 . 466 Q9Y2P0 ZN835_HUMAN W 466;444 ENSP00000444747:R444W ENSP00000341756:R466W R - 1 2 ZNF835 61867049 0.000000 0.05858 0.574000 0.28523 0.685000 0.39939 -0.428000 0.06991 -0.414000 0.07495 0.561000 0.74099 CGG TCGA-F2-A44G-01A-11D-A26I-08 ZNF835-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459800.1 1 0 1 76 441 0 120 0 0 0 0 120 2 0 0 0 0 0 2 1 1.000000 75 435 0 119 2 0 0 0 0 120 2 -3.222339 1 1 0 0 1 1 2 3 2.070933 0 0.290000 1.940000 0.301147 0.990000 0.820000 1.000000 1.000000 0.974628 0.990000 1 9.200000e-01 1 IGSF3 3321 broad.mit.edu 37 1 117122285 117122285 + Missense_Mutation SNP G G C rs114915440 byFrequency TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr1:117122285G>C ENST00000369486.3 - 10 3828 c.3063C>G c.(3061-3063)gaC>gaG p.D1021E IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 p.D1041D(1)|p.D1021D(1) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) cgtcgtcgtcgtcgtcctcct 0.632000 2 Substitution - coding silent(2) SO:0001583 missense ENST00000369486.3 1 0 hg19 CCDS30813.1 . . . . . . . . . . g 0.001 -3.470330 0.00011 . . ENSG00000143061 ENST00000369486;ENST00000369483;ENST00000318837 T;T;T 0.02890 4.12;4.12;4.12 0.329 0.329 0.15924 Immunoglobulin subtype (1);Immunoglobulin-like (1); 0.329841 0.23883 N 0.043632 T 0.00468 0.0015 N 0.22421 0.69 0.80722 P 0.0 B;B 0.02656 0.0;0.0 B;B 0.01281 0.0;0.0 T 0.46925 -0.9156 8 0.02654 T 1 -2.9576 . . . . 1021;1041 O75054;A6NJZ6 IGSF3_HUMAN;. E 1021;1041;1041 ENSP00000358498:D1021E;ENSP00000358495:D1041E;ENSP00000321184:D1041E ENSP00000321184:D1041E D - 3 2 IGSF3 116923808 0.026000 0.19158 0.036000 0.18154 0.121000 0.20230 -1.340000 0.02650 -0.471000 0.06891 -0.473000 0.04963 GAC TCGA-F2-A44G-01A-11D-A26I-08 IGSF3-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000059040.1 1 0 0 6 125 0 33 1 2.462300e-01 2 16 0 33 2 0 0 0 0 0 2 0 0.000110 20 150 5 38 32 0 0 0 0 33 2 -1.271879 0 0 0 0 1 1 2 3 2.021822 0 0.290000 1.940000 0.292053 0.330000 0.140000 0.690000 0.310000 0.363629 0.330000 0 2.200000e-01 4.900000e-01 SETDB1 9869 broad.mit.edu 37 1 150921869 150921869 + Nonsense_Mutation SNP C C G TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr1:150921869C>G ENST00000271640.5 + 12 1638 c.1448C>G c.(1447-1449)tCa>tGa p.S483* SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483* NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CTTGCCCAGTCACGGAAGCAG 0.453000 0 SO:0001587 stop_gained ENST00000271640.5 0 1 hg19 CCDS44217.1 . . . . . . . . . . C 33 5.224540 0.95139 . . ENSG00000143379 ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193 . . . 4.86 3.9 0.45041 . 0.403570 0.27604 N 0.018633 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.66056 D 0.02 . 11.7618 0.51908 0.136:0.7327:0.1313:0.0 . . . . X 483;484;483;483 . ENSP00000271640:S483X S + 2 0 SETDB1 149188493 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 1.799000 0.38824 2.528000 0.85240 0.561000 0.74099 TCA TCGA-F2-A44G-01A-11D-A26I-08 SETDB1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000084717.2 0 0 0 74 477 0 157 1 2.433135e-01 3 4 0 157 2 0 0 0 0 0 2 1 1.000000 73 474 0 156 2 0 0 0 0 157 2 -20.000000 1 1 0 0 1 0 1 1 2.017220 0 0.290000 1.940000 0.288969 0.920000 0.730000 1.000000 1.000000 0.914964 0.920000 1 8.200000e-01 1 LMX1A 4009 broad.mit.edu 37 1 165177322 165177322 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr1:165177322C>T ENST00000342310.3 - 7 1177 c.795G>A c.(793-795)caG>caA p.Q265Q LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 35 all_hematologic(923;0.248) TCTGGGTGTTCTGCTGATCTT 0.572000 0 SO:0001819 synonymous_variant ENST00000342310.3 1 1 hg19 CCDS1247.1 TCGA-F2-A44G-01A-11D-A26I-08 LMX1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083668.2 1 0 0 27 168 0 53 0 0 0 0 53 2 0 0 0 0 0 2 1 1.000000 28 168 0 52 2 0 0 0 0 53 2 -20.000000 1 0 0 0 1 0 1 1 2.017220 0 0.290000 1.940000 0.288969 0.950000 0.650000 1.000000 1.000000 0.914132 0.950000 1 7.900000e-01 1 CSMD2 114784 broad.mit.edu 37 1 34158555 34158555 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr1:34158555C>T ENST00000373380.1 - 4 866 c.646G>A c.(646-648)Gaa>Aaa p.E216K CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCCTCTGCTTCGATGGTCCAG 0.562000 0 SO:0001583 missense ENST00000373380.1 1 1 hg19 . . . . . . . . . . C 36 5.880781 0.97062 . . ENSG00000121904 ENST00000373381;ENST00000373380 T;T 0.17854 2.25;2.25 5.52 5.52 0.82312 CUB (5); 0.000000 0.85682 D 0.000000 T 0.36166 0.0957 L 0.45744 1.44 0.80722 D 1 D;D;D 0.76494 0.995;0.999;0.993 P;D;D 0.67900 0.87;0.954;0.921 T 0.02075 -1.1218 10 0.56958 D 0.05 . 18.4386 0.90656 0.0:1.0:0.0:0.0 . 216;1303;1343 Q7Z408-2;Q7Z408;E7EUA6 .;CSMD2_HUMAN;. K 1343;216 ENSP00000362479:E1343K;ENSP00000362478:E216K ENSP00000241312:E1303K E - 1 0 CSMD2 33931142 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 7.747000 0.85070 2.597000 0.87782 0.655000 0.94253 GAA TCGA-F2-A44G-01A-11D-A26I-08 CSMD2-002 KNOWN basic protein_coding protein_coding OTTHUMT00000030635.4 1 0 1 142 780 0 257 0 0 0 0 257 2 0 0 0 0 0 2 1 1.000000 142 774 0 254 2 0 0 0 0 257 2 -3.318872 1 1 121412 1 33 1 1 2 3 2.029795 0 0.290000 1.940000 0.294094 0.990000 0.900000 1.000000 1.000000 0.991676 0.990000 1 9.800000e-01 1 DPYD 1806 broad.mit.edu 37 1 98157326 98157326 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr1:98157326G>A ENST00000370192.3 - 7 809 c.709C>T c.(709-711)Ccg>Tcg p.P237S DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544) ACATCATACGGCAGCCGGAAC 0.363000 0 SO:0001583 missense ENST00000370192.3 1 1 hg19 CCDS30777.1 . . . . . . . . . . G 27.5 4.834760 0.91036 . . ENSG00000188641 ENST00000370192 D 0.94966 -3.57 5.03 5.03 0.67393 . 0.000000 0.85682 D 0.000000 D 0.95872 0.8656 L 0.48986 1.54 0.80722 D 1 D 0.71674 0.998 D 0.72338 0.977 D 0.96387 0.9286 10 0.87932 D 0 -9.0732 18.7184 0.91685 0.0:0.0:1.0:0.0 . 237 Q12882 DPYD_HUMAN S 237 ENSP00000359211:P237S ENSP00000359211:P237S P - 1 0 DPYD 97929914 1.000000 0.71417 1.000000 0.80357 0.962000 0.63368 7.564000 0.82326 2.497000 0.84241 0.460000 0.39030 CCG TCGA-F2-A44G-01A-11D-A26I-08 DPYD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095698.3 1 0 1 63 283 0 118 1 8.990439e-01 7 13 0 118 2 0 0 0 0 0 2 1 1.000000 62 278 0 118 2 0 0 0 0 118 2 -20.000000 1 1 0 0 1 1 2 3 2.029795 0 0.290000 1.940000 0.294094 0.990000 0.990000 1.000000 1.000000 0.998848 0.990000 1 9.900000e-01 1 GNAS 2778 broad.mit.edu 37 20 57429663 57429663 + Missense_Mutation SNP A A C TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr20:57429663A>C ENST00000371100.4 + 1 1895 c.1343A>C c.(1342-1344)gAc>gCc p.D448A GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCGGCCCCTGACGCCCCAGCC 0.771000 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism, type IA TSP Lung(22;0.16) Colon(117;935 1597 6045 8307 46442) Dom yes 20 20q13.2 2778 guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 yes E 0 SO:0001583 missense ENST00000371100.4 0 1 hg19 CCDS46622.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 10.48|10.48 1.360743|1.360743 0.24598|0.24598 .|. .|. ENSG00000087460|ENSG00000087460 ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120 D;D|. 0.88277|. -2.28;-2.36|. 4.94|4.94 -7.29|-7.29 0.01451|0.01451 .|. 2585.400000|. 0.00738|. N|. 0.000990|. T|T 0.16428|0.16428 0.0395|0.0395 N|N 0.04508|0.04508 -0.205|-0.205 0.09310|0.09310 N|N 0.999999|0.999999 B|. 0.02656|. 0.0|. B|. 0.01281|. 0.0|. T|T 0.39820|0.39820 -0.9595|-0.9595 10|6 0.08381|0.45353 T|T 0.77|0.12 .|. 10.372|10.372 0.44060|0.44060 0.5274:0.2745:0.1982:0.0|0.5274:0.2745:0.1982:0.0 .|. 448|. Q5JWF2|. GNAS1_HUMAN|. A|P 448|385 ENSP00000360141:D448A;ENSP00000360143:D448A|. ENSP00000360140:D448A|ENSP00000302237:T385P D|T +|+ 2|1 0|0 GNAS|GNAS 56863058|56863058 0.000000|0.000000 0.05858|0.05858 0.000000|0.000000 0.03702|0.03702 0.053000|0.053000 0.15095|0.15095 -0.231000|-0.231000 0.09069|0.09069 -1.486000|-1.486000 0.01851|0.01851 -0.464000|-0.464000 0.05259|0.05259 GAC|ACG TCGA-F2-A44G-01A-11D-A26I-08 GNAS-001 PUTATIVE basic|CCDS protein_coding protein_coding OTTHUMT00000080417.3 0 0 0 6 21 0 10 0 0 0 0 10 2 0 1.390002e-01 2 12 1 6 6 0 0.737783 0 11 0 4 2 0 0 0 0 10 2 -14.381970 1 0 93804 1 26 1 1 2 3 2.028414 0 0.290000 1.940000 0.292053 0.990000 0.660000 1.000000 1.000000 0.971064 0.990000 1 9.900000e-01 1 APOBEC3B 9582 broad.mit.edu 37 22 39382043 39382043 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr22:39382043C>T ENST00000333467.3 + 3 446 c.401C>T c.(400-402)gCg>gTg p.A134V APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V NM_001270411.1|NM_004900.4 NP_001257340.1|NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B 13 Melanoma(58;0.04) TACCGAAGGGCGCTCTGCAGG 0.607000 0 SO:0001583 missense ENST00000333467.3 1 1 hg19 CCDS13982.1 . . . . . . . . . . . 13.82 2.350943 0.41599 . . ENSG00000179750 ENST00000407298;ENST00000402182;ENST00000333467 T;T;T 0.67698 -0.28;-0.28;-0.28 2.12 -1.53 0.08611 APOBEC-like, C-terminal (1);Cytidine deaminase-like (1); . . . . T 0.66528 0.2798 M 0.64997 1.995 0.09310 N 1 P;D 0.61697 0.92;0.99 B;P 0.53649 0.375;0.731 T 0.57171 -0.7857 9 0.56958 D 0.05 . 3.7999 0.08754 0.3031:0.2104:0.4865:0.0 . 134;134 B0QYD2;Q9UH17 .;ABC3B_HUMAN V 134 ENSP00000385068:A134V;ENSP00000385060:A134V;ENSP00000327459:A134V ENSP00000327459:A134V A + 2 0 APOBEC3B 37711989 1.000000 0.71417 0.002000 0.10522 0.013000 0.08279 2.701000 0.47094 -0.292000 0.08999 0.194000 0.17425 GCG TCGA-F2-A44G-01A-11D-A26I-08 APOBEC3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321233.1 1 0 0 57 420 0 140 1 6.540285e-01 13 5 0 140 2 0 0 0 0 0 2 1 1.000000 51 355 0 125 2 0 0 0 0 140 2 -3.318794 1 1 120572 3 36 1 0 0 0 1.958883 0 0.290000 1.940000 0.266605 0.790000 0.610000 0.990000 0.800000 0.802504 0.790000 0 6.900000e-01 9.000000e-01 MALL 7851 broad.mit.edu 37 2 110849265 110849265 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr2:110849265G>A ENST00000272462.2 - 2 961 c.188C>T c.(187-189)tCg>tTg p.S63L MALL_ENST00000427178.1_Intron NM_005434.4 NP_005425.1 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 9 CGAGGTGAGCGAGACATACAT 0.448000 0 SO:0001583 missense ENST00000272462.2 1 1 hg19 CCDS2085.1 . . . . . . . . . . G 14.81 2.645261 0.47258 . . ENSG00000144063 ENST00000272462 T 0.27557 1.66 3.47 3.47 0.39725 Marvel (1);MARVEL-like domain (1); 0.000000 0.49916 D 0.000125 T 0.60586 0.2280 M 0.89840 3.065 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.69892 -0.5022 10 0.66056 D 0.02 -15.224 12.7991 0.57576 0.0:0.0:1.0:0.0 . 63 Q13021 MALL_HUMAN L 63 ENSP00000272462:S63L ENSP00000272462:S63L S - 2 0 MALL 110206554 1.000000 0.71417 0.887000 0.34795 0.156000 0.22039 5.864000 0.69575 1.664000 0.50801 0.313000 0.20887 TCG TCGA-F2-A44G-01A-11D-A26I-08 MALL-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253921.1 0 0 0 34 470 0 180 0 9.996175e-01 0 165 0 180 2 0 0 0 0 0 2 1 1.000000 34 461 0 181 2 0 0 0 0 180 2 -2.879455 1 1 121412 4 32 1 1 2 3 2.027502 0 0.290000 1.940000 0.292053 0.460000 0.320000 0.660000 0.460000 0.481252 0.460000 0 3.900000e-01 5.600000e-01 CYP27A1 1593 broad.mit.edu 37 2 219678840 219678840 + Missense_Mutation SNP G G C TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr2:219678840G>C ENST00000258415.4 + 6 1541 c.1114G>C c.(1114-1116)Ggg>Cgg p.G372R NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 26 Renal(207;0.0474) Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082) GGTGCCAGCCGGGCAAGTGCC 0.587000 0 SO:0001583 missense ENST00000258415.4 1 1 hg19 CCDS2423.1 . . . . . . . . . . G 15.68 2.905864 0.52333 . . ENSG00000135929 ENST00000258415 T 0.70282 -0.47 5.76 5.76 0.90799 . 0.048229 0.85682 D 0.000000 T 0.65831 0.2729 L 0.57130 1.785 0.43982 D 0.996674 P 0.38167 0.621 B 0.38755 0.281 T 0.65117 -0.6246 10 0.36615 T 0.2 -35.6709 9.8121 0.40828 0.0748:0.1409:0.7843:0.0 . 372 Q02318 CP27A_HUMAN R 372 ENSP00000258415:G372R ENSP00000258415:G372R G + 1 0 CYP27A1 219387084 1.000000 0.71417 0.963000 0.40424 0.965000 0.64279 4.040000 0.57333 2.706000 0.92434 0.655000 0.94253 GGG TCGA-F2-A44G-01A-11D-A26I-08 CYP27A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000109734.4 1 0 1 45 311 0 82 1 9.999518e-01 7 97 0 82 2 0 0 0 0 0 2 1 1.000000 44 307 0 82 2 0 0 0 0 82 2 -2.841741 1 1 0 0 1 0 1 1 2.013637 0 0.290000 1.940000 0.288969 0.860000 0.650000 1.000000 1.000000 0.867665 0.860000 1 7.500000e-01 9.900000e-01 MYLK 4638 broad.mit.edu 37 3 123411658 123411658 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr3:123411658C>T ENST00000475616.1 - 16 3488 c.3489G>A c.(3487-3489)gaG>gaA p.E1163E MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1163E Q15746 MYLK_HUMAN myosin light chain kinase 113 Lung NSC(201;0.0496) AGCCTCTGTCCTCAGGCAGTG 0.592000 0 SO:0001819 synonymous_variant ENST00000475616.1 1 1 hg19 CCDS46896.1 TCGA-F2-A44G-01A-11D-A26I-08 MYLK-004 KNOWN not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356464.1 1 0 0 13 333 0 103 0 4.467138e-01 0 38 0 103 2 0 0 0 0 0 2 1 0.999557 13 333 0 101 2 0 0 0 0 103 2 -3.153545 1 1 0 0 1 1 2 3 2.024136 0 0.290000 1.940000 0.292053 0.260000 0.140000 0.450000 0.260000 0.283397 0.260000 0 2.000000e-01 3.500000e-01 METTL14 57721 broad.mit.edu 37 4 119609076 119609076 + Splice_Site SNP A A G TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr4:119609076A>G ENST00000388822.5 + 2 233 c.e2-1 METTL14_ENST00000506780.1_Splice_Site Q9HCE5 MET14_HUMAN methyltransferase like 14 16 GTCTTTTCTCAGTTGGGAGCT 0.383000 0 SO:0001630 splice_region_variant ENST00000388822.5 1 1 hg19 CCDS34053.1 . . . . . . . . . . . 15.99 2.994997 0.54041 . . ENSG00000145388 ENST00000388822;ENST00000508801 . . . 5.5 5.5 0.81552 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 15.9182 0.79539 1.0:0.0:0.0:0.0 . . . . . -1 . . . + . . METTL14 119828524 1.000000 0.71417 0.997000 0.53966 0.490000 0.33462 8.543000 0.90651 2.229000 0.72834 0.523000 0.50628 . TCGA-F2-A44G-01A-11D-A26I-08 METTL14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364034.3 1 0 1 48 220 0 79 1 9.074625e-01 21 0 0 79 2 0 0 0 0 0 2 1 1.000000 47 216 0 79 2 0 0 0 0 79 2 -20.000000 1 1 0 0 1 1 2 3 2.024334 0 0.290000 1.940000 0.292053 0.990000 0.940000 1.000000 1.000000 0.996592 0.990000 1 9.900000e-01 1 METTL14 57721 broad.mit.edu 37 4 119626803 119626803 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr4:119626803G>A ENST00000388822.5 + 10 1060 c.893G>A c.(892-894)cGt>cAt p.R298H METTL14_ENST00000506780.1_Missense_Mutation_p.R260H Q9HCE5 MET14_HUMAN methyltransferase like 14 p.R298P(3) 16 ACTGTGAAGCGTAGCACAGAC 0.373000 3 Substitution - Missense(3) SO:0001583 missense ENST00000388822.5 1 1 hg19 CCDS34053.1 . . . . . . . . . . G 28.7 4.942676 0.92526 . . ENSG00000145388 ENST00000388822;ENST00000506780 T;T 0.50001 0.76;0.76 5.82 4.98 0.66077 . 0.000000 0.85682 D 0.000000 T 0.76357 0.3976 M 0.93328 3.405 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.83365 0.0004 10 0.72032 D 0.01 -3.4786 15.0159 0.71584 0.0684:0.0:0.9316:0.0 . 260;298 D6RBL4;Q9HCE5 .;MTL14_HUMAN H 298;260 ENSP00000373474:R298H;ENSP00000424111:R260H ENSP00000373474:R298H R + 2 0 METTL14 119846251 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 9.229000 0.95273 1.472000 0.48140 0.585000 0.79938 CGT TCGA-F2-A44G-01A-11D-A26I-08 METTL14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364034.3 1 0 1 82 598 0 173 1 9.637034e-01 9 32 0 173 2 0 0 0 0 0 2 1 1.000000 81 594 0 173 2 0 0 0 0 173 2 -20.000000 1 1 0 0 1 1 2 3 2.024334 0 0.290000 1.940000 0.292053 0.830000 0.670000 1.000000 0.830000 0.838961 0.830000 0 7.400000e-01 9.300000e-01 DDX60L 91351 broad.mit.edu 37 4 169374381 169374381 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr4:169374381C>T ENST00000511577.1 - 8 1137 c.890G>A c.(889-891)cGt>cAt p.R297H DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like p.R297L(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) ACAGAGGCAACGCAGTCTGCA 0.458000 1 Substitution - Missense(1) SO:0001583 missense ENST00000511577.1 1 1 hg19 . . . . . . . . . . C 2.777 -0.254392 0.05829 . . ENSG00000181381 ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863 T;T;T;T 0.15718 2.4;2.4;2.4;3.06 3.3 -1.09 0.09904 . 0.782659 0.10119 N 0.713632 T 0.04452 0.0122 N 0.01009 -1.055 0.09310 N 1 B;B;B 0.09022 0.001;0.002;0.001 B;B;B 0.01281 0.0;0.0;0.0 T 0.44360 -0.9333 10 0.14656 T 0.56 . 6.5863 0.22622 0.0:0.3112:0.0:0.6888 . 297;297;297 E9PAP8;D6R906;Q5H9U9 .;.;DDX6L_HUMAN H 297;297;297;25 ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H ENSP00000260184:R297H R - 2 0 DDX60L 169610956 0.015000 0.18098 0.001000 0.08648 0.759000 0.43091 0.485000 0.22324 -0.458000 0.07023 -0.444000 0.05651 CGT TCGA-F2-A44G-01A-11D-A26I-08 DDX60L-001 KNOWN basic|appris_principal protein_coding protein_coding OTTHUMT00000364839.1 1 0 1 33 249 0 120 1 2.017550e-01 3 4 0 120 2 0 0 0 0 0 2 1 1.000000 33 247 0 120 2 0 0 0 0 120 2 -20.000000 1 1 120932 8 41 1 1 2 3 2.024334 0 0.290000 1.940000 0.292053 0.810000 0.570000 1.000000 1.000000 0.816194 0.810000 0 6.800000e-01 9.600000e-01 EPHA5 2044 broad.mit.edu 37 4 66535410 66535410 + Silent SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr4:66535410G>A ENST00000273854.3 - 1 651 c.51C>T c.(49-51)ggC>ggT p.G17G EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G|RP11-807H7.1_ENST00000509473.1_lincRNA NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 142 TGTCGCCGCCGCCGCTTgggg 0.756000 TSP Lung(17;0.13) 0 SO:0001819 synonymous_variant ENST00000273854.3 0 1 hg19 CCDS3513.1 TCGA-F2-A44G-01A-11D-A26I-08 EPHA5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000251388.2 0 0 0 4 47 0 15 0 0 0 0 15 2 0 0 0 0 0 2 1 0.888377 4 46 0 14 2 0 0 0 0 15 2 -10.653830 1 1 0 0 1 1 2 3 2.022744 0 0.290000 1.940000 0.292053 0.580000 0.200000 1.000000 1.000000 0.611355 0.580000 0 3.600000e-01 8.900000e-01 HELQ 113510 broad.mit.edu 37 4 84342813 84342813 + Nonsense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr4:84342813C>T ENST00000295488.3 - 15 3014 c.2852G>A c.(2851-2853)tGg>tAg p.W951* HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884* NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 38 AGATACAGTCCAAATGTTGGT 0.358000 Other identified genes with known or suspected DNA repair function 0 SO:0001587 stop_gained ENST00000295488.3 0 1 hg19 CCDS3603.1 . . . . . . . . . . C 42 9.277624 0.99122 . . ENSG00000163312 ENST00000295488;ENST00000510985 . . . 5.26 5.26 0.73747 . 0.118507 0.64402 D 0.000008 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.35671 T 0.21 -3.6571 17.0371 0.86479 0.0:1.0:0.0:0.0 . . . . X 951;884 . ENSP00000295488:W951X W - 2 0 HELQ 84561837 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 7.116000 0.77119 2.458000 0.83093 0.591000 0.81541 TGG TCGA-F2-A44G-01A-11D-A26I-08 HELQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252810.1 1 0 1 37 220 0 62 1 4.413151e-01 4 6 0 62 2 0 0 0 0 0 2 1 1.000000 35 219 0 62 2 0 0 0 0 62 2 -2.884609 1 1 0 0 1 1 2 3 2.024334 0 0.290000 1.940000 0.292053 0.990000 0.720000 1.000000 1.000000 0.943313 0.990000 1 8.500000e-01 1 TRPC7 57113 broad.mit.edu 37 5 135587384 135587384 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:135587384G>A ENST00000513104.1 - 6 1814 c.1532C>T c.(1531-1533)aCg>aTg p.T511M TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTGTGCAGCGTGTCGTCCTG 0.602000 0 SO:0001583 missense ENST00000513104.1 1 1 hg19 CCDS47267.2 . . . . . . . . . . G 11.75 1.730593 0.30684 . . ENSG00000069018 ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193 T;T;T 0.79554 -1.08;-1.28;-1.15 5.21 4.28 0.50868 Ion transport (1); 0.529059 0.20685 N 0.087579 T 0.81317 0.4797 L 0.39898 1.24 0.33214 D 0.553753 D;P;P;P 0.61697 0.99;0.814;0.846;0.792 P;B;P;P 0.59595 0.86;0.311;0.46;0.505 T 0.81856 -0.0740 10 0.32370 T 0.25 -11.4232 11.0783 0.48045 0.0:0.0:0.6422:0.3578 . 395;450;456;511 Q8IWP7;F5H5U9;Q70T25;Q9HCX4 .;.;.;TRPC7_HUMAN M 450;395;511;511 ENSP00000347312:T450M;ENSP00000441628:T395M;ENSP00000426070:T511M ENSP00000265193:T511M T - 2 0 TRPC7 135615283 1.000000 0.71417 0.980000 0.43619 0.056000 0.15407 4.339000 0.59322 2.720000 0.93068 0.650000 0.86243 ACG TCGA-F2-A44G-01A-11D-A26I-08 TRPC7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000366975.1 1 0 1 27 162 0 44 0 0 0 0 44 2 0 0 0 0 0 2 1 1.000000 26 158 0 44 2 0 0 0 0 44 2 -20.000000 1 1 121194 1 24 1 0 1 1 2.016298 0 0.290000 1.940000 0.288969 0.980000 0.670000 1.000000 1.000000 0.929090 0.980000 1 8.100000e-01 1 PCDHB11 56125 broad.mit.edu 37 5 140581425 140581425 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:140581425C>T ENST00000354757.3 + 1 2078 c.2078C>T c.(2077-2079)gCg>gTg p.A693V PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 p.A693V(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTGGTGGTGGCGTTGGCCTCG 0.692000 1 Substitution - Missense(1) SO:0001583 missense ENST00000354757.3 1 1 hg19 CCDS4253.1 . . . . . . . . . . c 24.3 4.514543 0.85389 . . ENSG00000197479 ENST00000536699;ENST00000354757 T;T 0.25250 1.81;1.81 2.64 2.64 0.31445 . . . . . T 0.63498 0.2516 H 0.98559 4.265 0.09310 N 1 D 0.76494 0.999 D 0.66196 0.942 T 0.59005 -0.7535 9 0.87932 D 0 . 10.5162 0.44892 0.0:0.8009:0.1991:0.0 . 693 Q9Y5F2 PCDBB_HUMAN V 328;693 ENSP00000440344:A328V;ENSP00000346802:A693V ENSP00000346802:A693V A + 2 0 PCDHB11 140561609 0.083000 0.21467 0.009000 0.14445 0.760000 0.43138 3.624000 0.54231 1.481000 0.48307 0.449000 0.29647 GCG TCGA-F2-A44G-01A-11D-A26I-08 PCDHB11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251813.1 1 0 1 160 941 0 284 0 0 0 0 284 2 0 0 0 0 0 2 1 1.000000 150 908 0 275 2 0 0 0 0 284 2 -20.000000 1 1 0 0 1 0 1 1 2.016298 0 0.290000 1.940000 0.288969 0.990000 0.850000 1.000000 1.000000 0.972208 0.990000 1 9.200000e-01 1 PCDHGA8 9708 broad.mit.edu 37 5 140772668 140772668 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:140772668C>T ENST00000398604.2 + 1 288 c.288C>T c.(286-288)tgC>tgT p.C96C PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron NM_032088.1 NP_114477.1 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAGCTCTGCGCTCAGAGCC 0.498000 0 SO:0001819 synonymous_variant ENST00000398604.2 1 1 hg19 CCDS47291.1 TCGA-F2-A44G-01A-11D-A26I-08 PCDHGA8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000376972.1 0 0 0 13 372 0 119 0 0 0 0 119 2 0 0 0 0 0 2 1 0.999512 12 368 0 119 2 0 0 0 0 119 2 -13.047720 1 1 0 0 1 0 1 1 2.016298 0 0.290000 1.940000 0.288969 0.230000 0.130000 0.380000 0.230000 0.247538 0.230000 0 1.700000e-01 3.100000e-01 ANKH 56172 broad.mit.edu 37 5 14756009 14756009 + Silent SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:14756009G>A ENST00000284268.6 - 4 807 c.477C>T c.(475-477)ttC>ttT p.F159F ANKH_ENST00000503939.1_5'Flank NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 29 ATCCCACCAGGAAACTGTATT 0.453000 0 SO:0001819 synonymous_variant ENST00000284268.6 1 1 hg19 CCDS3885.1 TCGA-F2-A44G-01A-11D-A26I-08 ANKH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207063.1 1 0 1 51 258 0 115 1 9.999853e-01 2 84 0 115 2 0 0 0 0 0 2 1 1.000000 51 255 0 113 2 0 0 0 0 115 2 -20.000000 1 1 0 0 1 0.290000 1.940000 0 0 HEXB 3074 broad.mit.edu 37 5 73981215 73981215 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:73981215C>T ENST00000261416.7 + 1 247 c.130C>T c.(130-132)Cgg>Tgg p.R44W HEXB_ENST00000511181.1_Intron NM_000521.3 NP_000512 P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) GGAGGCGGCTCGGGCCCCGAG 0.711000 Melanoma(66;841 1270 13391 18706 27225) 0 SO:0001583 missense ENST00000261416.7 1 1 hg19 CCDS4022.1 . . . . . . . . . . C 11.53 1.665782 0.29604 . . ENSG00000049860 ENST00000261416 D 0.96940 -4.18 1.75 1.75 0.24633 . 0.771240 0.10531 U 0.663835 D 0.85553 0.5723 N 0.08118 0 0.09310 N 0.999993 P 0.45428 0.858 B 0.18561 0.022 T 0.81017 -0.1123 10 0.66056 D 0.02 6.7032 6.0566 0.19815 0.0:0.6722:0.3277:0.0 . 44 P07686 HEXB_HUMAN W 44 ENSP00000261416:R44W ENSP00000261416:R44W R + 1 2 HEXB 74016971 0.000000 0.05858 0.007000 0.13788 0.039000 0.13416 0.036000 0.13819 0.982000 0.38575 0.313000 0.20887 CGG TCGA-F2-A44G-01A-11D-A26I-08 HEXB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000219859.6 1 0 0 14 81 0 22 1 9.750120e-01 14 25 0 22 2 0 0 0 0 0 2 1 0.999806 14 79 0 21 2 0 0 0 0 22 2 -20.000000 1 1 116604 2 24 1 0 1 1 2.016298 0 0.290000 1.940000 0.288969 0.990000 0.600000 1.000000 1.000000 0.921389 0.990000 1 7.800000e-01 1 VCAN 1462 broad.mit.edu 37 5 82818108 82818108 + Missense_Mutation SNP A A G TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr5:82818108A>G ENST00000265077.3 + 7 4548 c.3983A>G c.(3982-3984)gAg>gGg p.E1328G VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) Hyaluronan(DB08818) TATATTATTGAGGTCAGAGAA 0.403000 0 SO:0001583 missense ENST00000265077.3 1 1 hg19 CCDS4060.1 . . . . . . . . . . A 14.40 2.524357 0.44969 . . ENSG00000038427 ENST00000265077;ENST00000342785;ENST00000512590 D;D;D 0.86865 -2.1;-2.15;-2.18 5.61 3.08 0.35506 . 0.311300 0.27735 N 0.018078 D 0.90937 0.7151 M 0.71581 2.175 0.27726 N 0.944977 D;D 0.76494 0.999;0.999 D;D 0.66351 0.943;0.922 D 0.84462 0.0594 10 0.87932 D 0 . 9.5811 0.39488 0.7423:0.1873:0.0705:0.0 . 1328;1328 P13611-3;P13611 .;CSPG2_HUMAN G 1328;1328;1280 ENSP00000265077:E1328G;ENSP00000342768:E1328G;ENSP00000425959:E1280G ENSP00000265077:E1328G E + 2 0 VCAN 82853864 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 1.791000 0.38744 0.967000 0.38186 -0.256000 0.11100 GAG TCGA-F2-A44G-01A-11D-A26I-08 VCAN-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000254092.3 1 0 1 63 388 0 130 0 5.481393e-02 1 2 0 130 2 0 0 0 0 0 2 1 1.000000 63 385 0 128 2 0 0 0 0 130 2 -20.000000 1 1 0 0 1 0 1 1 2.016298 0 0.290000 1.940000 0.288969 0.950000 0.750000 1.000000 1.000000 0.936869 0.950000 1 8.500000e-01 1 ATP6V0A4 50617 broad.mit.edu 37 7 138447711 138447711 + Missense_Mutation SNP C C G TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr7:138447711C>G ENST00000310018.2 - 6 633 c.351G>C c.(349-351)ttG>ttC p.L117F ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 p.L117F(1) 36 AGCTTTGTTTCAAGGCCTGCT 0.463000 1 Substitution - Missense(1) SO:0001583 missense ENST00000310018.2 1 1 hg19 CCDS5849.1 . . . . . . . . . . C 21.3 4.124827 0.77436 . . ENSG00000105929 ENST00000310018;ENST00000393054;ENST00000353492 D;D;D 0.91996 -2.95;-2.95;-2.95 5.21 3.41 0.39046 . 0.154984 0.36444 N 0.002582 D 0.96241 0.8774 M 0.92555 3.32 0.58432 D 0.99999 D 0.63880 0.993 D 0.65773 0.938 D 0.96063 0.9040 10 0.72032 D 0.01 -26.1136 11.3732 0.49713 0.0:0.8512:0.0:0.1488 . 117 Q9HBG4 VPP4_HUMAN F 117 ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F ENSP00000308122:L117F L - 3 2 ATP6V0A4 138098251 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 1.985000 0.40668 0.865000 0.35603 0.655000 0.94253 TTG TCGA-F2-A44G-01A-11D-A26I-08 ATP6V0A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347514.1 1 0 1 92 514 0 178 0 0 0 0 178 2 0 0 0 0 0 2 1 1.000000 91 510 0 176 2 0 0 0 0 178 2 -20.000000 1 1 0 0 1 0 0 0 1.997391 0 0.290000 1.940000 0.281667 0.990000 0.840000 1.000000 1.000000 0.977036 0.990000 1 9.300000e-01 1 ATG9B 285973 broad.mit.edu 37 7 150716447 150716447 + Silent SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr7:150716447C>T ENST00000377974.2 - 6 1053 c.978G>A c.(976-978)tcG>tcA p.S326S ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.S326S|ATG9B_ENST00000444312.1_Intron Q674R7 ATG9B_HUMAN autophagy related 9B 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) CCCAGGGAACCGAGCTCAGCT 0.667000 0 SO:0001819 synonymous_variant ENST00000377974.2 0 1 hg19 TCGA-F2-A44G-01A-11D-A26I-08 ATG9B-201 KNOWN basic|appris_principal protein_coding protein_coding 0 0 0 14 133 0 41 0 0 0 1 0 41 2 0 0 0 0 0 2 1 0.999794 14 132 0 41 2 0 0 0 0 41 2 -19.833590 1 1 0 0 1 0 0 0 2.006556 0 0.290000 1.940000 0.285858 0.650000 0.380000 1.000000 1.000000 0.675509 0.650000 0 5.000000e-01 8.400000e-01 ZFPM2 23414 broad.mit.edu 37 8 106815377 106815377 + Missense_Mutation SNP G G A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr8:106815377G>A ENST00000407775.2 + 8 3317 c.3067G>A c.(3067-3069)Ggg>Agg p.G1023R ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTCCTCAAATGGGTGTGCTGC 0.433000 0 SO:0001583 missense ENST00000407775.2 1 1 hg19 CCDS47908.1 . . . . . . . . . . G 11.89 1.774158 0.31411 . . ENSG00000169946 ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472 T;T;T;T 0.24350 1.86;2.36;2.36;3.56 5.96 5.96 0.96718 . 0.045750 0.85682 D 0.000000 T 0.14442 0.0349 N 0.19112 0.55 0.80722 D 1 P 0.43938 0.822 B 0.32211 0.142 T 0.04811 -1.0925 10 0.33141 T 0.24 . 13.5936 0.61975 0.0705:0.0:0.9295:0.0 . 1023 Q8WW38 FOG2_HUMAN R 1023;891;891;754 ENSP00000384179:G1023R;ENSP00000430757:G891R;ENSP00000428720:G891R;ENSP00000367733:G754R ENSP00000367733:G754R G + 1 0 ZFPM2 106884553 1.000000 0.71417 0.952000 0.39060 0.888000 0.51559 6.872000 0.75536 2.831000 0.97527 0.650000 0.86243 GGG TCGA-F2-A44G-01A-11D-A26I-08 ZFPM2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380614.1 1 0 0 20 204 0 81 0 2.028125e-01 0 9 0 81 2 0 0 0 0 0 2 1 0.999996 20 203 0 81 2 0 0 0 0 81 2 -2.559130 1 1 0 0 1 1 2 3 2.041160 0 0.290000 1.940000 0.295110 0.630000 0.390000 1.000000 0.610000 0.651935 0.630000 0 5.000000e-01 7.900000e-01 DLGAP2 9228 broad.mit.edu 37 8 1626541 1626541 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr8:1626541C>T ENST00000421627.2 + 9 2344 c.2210C>T c.(2209-2211)gCg>gTg p.A737V DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) CAGTACAGCGCGGTGAGAACT 0.632000 0 SO:0001583 missense ENST00000421627.2 1 1 hg19 CCDS47760.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 13.22|13.22 2.172334|2.172334 0.38315|0.38315 .|. .|. ENSG00000198010|ENSG00000198010 ENST00000356067;ENST00000421627|ENST00000520901 T|. 0.19938|. 2.11|. 5.32|5.32 4.44|4.44 0.53790|0.53790 .|. 0.094982|. 0.64402|. N|. 0.000001|. T|T 0.60157|0.60157 0.2247|0.2247 L|L 0.46614|0.46614 1.455|1.455 0.48696|0.48696 D|D 0.999694|0.999694 P;P|. 0.50943|. 0.94;0.894|. B;P|. 0.46237|. 0.374;0.508|. T|T 0.57063|0.57063 -0.7875|-0.7875 10|5 0.02654|. T|. 1|. -8.3498|-8.3498 13.6933|13.6933 0.62562|0.62562 0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744 .|. 802;816|. Q9P1A6-2;Q9P1A6|. .;DLGP2_HUMAN|. V|W 768;737|740 ENSP00000400258:A737V|. ENSP00000348366:A768V|. A|R +|+ 2|1 0|2 DLGAP2|DLGAP2 1613948|1613948 1.000000|1.000000 0.71417|0.71417 0.422000|0.422000 0.26621|0.26621 0.513000|0.513000 0.34164|0.34164 4.501000|4.501000 0.60393|0.60393 1.233000|1.233000 0.43693|0.43693 0.650000|0.650000 0.86243|0.86243 GCG|CGG TCGA-F2-A44G-01A-11D-A26I-08 DLGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374478.1 1 0 1 37 235 0 77 0 0 0 0 77 2 0 0 0 0 0 2 1 1.000000 37 235 0 74 2 0 0 0 0 77 2 -20.000000 1 1 120946 2 27 1 1 2 3 2.075118 0 0.290000 1.940000 0.301147 0.970000 0.690000 1.000000 1.000000 0.928550 0.970000 1 8.200000e-01 1 CDK20 23552 broad.mit.edu 37 9 90584165 90584165 + Missense_Mutation SNP C C A TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chr9:90584165C>A ENST00000325303.8 - 7 1092 c.787G>T c.(787-789)Gat>Tat p.D263Y CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000375883.3_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C NM_001039803.2 NP_001034892.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 1 CCCAGCAGATCCAATGCCTGG 0.597000 0 SO:0001583 missense ENST00000325303.8 1 1 hg19 CCDS35060.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. 12.29|12.29 1.893182|1.893182 0.33442|0.33442 .|. .|. ENSG00000156345|ENSG00000156345 ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871 T;T;T|T 0.55413|0.63744 0.52;0.52;0.52|-0.06 4.64|4.64 3.67|3.67 0.42095|0.42095 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|. 0.370436|. 0.29522|. N|. 0.011907|. T|T 0.51601|0.51601 0.1684|0.1684 .|. .|. .|. 0.37885|0.37885 D|D 0.930512|0.930512 P;D;P|B 0.59357|0.09022 0.856;0.985;0.774|0.002 P;D;P|B 0.66979|0.10450 0.646;0.948;0.832|0.005 T|T 0.58183|0.58183 -0.7681|-0.7681 9|8 0.87932|0.72032 D|D 0|0.01 -26.4582|-26.4582 9.746|9.746 0.40446|0.40446 0.0:0.7261:0.2739:0.0|0.0:0.7261:0.2739:0.0 .|. 255;242;263|200 A2A390;E7EQ88;Q8IZL9|Q8IZL9-2 .;.;CDK20_HUMAN|. Y|C 242;255;263;242|200 ENSP00000365043:D242Y;ENSP00000338975:D255Y;ENSP00000322343:D263Y|ENSP00000365031:W200C ENSP00000286878:D242Y|ENSP00000365031:W200C D|W -|- 1|3 0|0 CDK20|CDK20 89773985|89773985 0.998000|0.998000 0.40836|0.40836 1.000000|1.000000 0.80357|0.80357 0.112000|0.112000 0.19704|0.19704 1.072000|1.072000 0.30678|0.30678 2.296000|2.296000 0.77279|0.77279 0.655000|0.655000 0.94253|0.94253 GAT|TGG TCGA-F2-A44G-01A-11D-A26I-08 CDK20-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214996.1 1 0 1 130 810 0 334 1 4.643487e-01 3 8 0 334 2 0 0 0 0 0 2 1 1.000000 131 800 0 329 2 0 0 0 0 334 2 -20.000000 1 1 0 0 1 0 1 1 1.733556 1 0.290000 1.940000 0.169591 0.800000 0.680000 0.940000 0.810000 0.814928 0.800000 0 7.400000e-01 8.800000e-01 CSTF2 1478 broad.mit.edu 37 X 100078981 100078981 + Missense_Mutation SNP C C T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chrX:100078981C>T ENST00000372972.2 + 5 567 c.551C>T c.(550-552)cCg>cTg p.P184L CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L|SNORA9_ENST00000365361.1_RNA NM_001325.2 NP_001316.1 P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 13 ATTGTGGATCCGGAAATTGCC 0.468000 0 SO:0001583 missense ENST00000372972.2 1 1 hg19 CCDS14473.1 . . . . . . . . . . C 23.6 4.441413 0.83993 . . ENSG00000101811 ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437 T;T;T 0.18810 2.27;2.22;2.19 5.27 5.27 0.74061 . 0.000000 0.85682 D 0.000000 T 0.56062 0.1960 M 0.92555 3.32 0.80722 D 1 D;P;P 0.71674 0.998;0.723;0.941 D;B;P 0.65323 0.934;0.206;0.603 T 0.69124 -0.5228 10 0.72032 D 0.01 -6.4506 18.0432 0.89324 0.0:1.0:0.0:0.0 . 184;184;184 E7EWR4;P33240-2;P33240 .;.;CSTF2_HUMAN L 184;184;184;175 ENSP00000387996:P184L;ENSP00000362063:P184L;ENSP00000415705:P175L ENSP00000362063:P184L P + 2 0 CSTF2 99965637 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 7.237000 0.78164 2.196000 0.70406 0.600000 0.82982 CCG TCGA-F2-A44G-01A-11D-A26I-08 CSTF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058926.1 1 0 1 95 715 0 223 1 7.898065e-01 19 5 0 223 2 0 0 0 0 0 2 1 1.000000 95 712 0 223 2 0 0 0 0 223 2 -2.774725 1 1 0 0 1 0 1 1 0.290000 1.940000 0.290000 0.800000 0.660000 0.960000 0.800000 0.812546 0.800000 0 7.200000e-01 8.900000e-01 BHLHB9 80823 broad.mit.edu 37 X 102004384 102004384 + Missense_Mutation SNP C C T rs141213425 byFrequency TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chrX:102004384C>T ENST00000372735.1 + 4 1046 c.461C>T c.(460-462)gCg>gTg p.A154V BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 26 TTGGAACCTGCGGCTGGGGCC 0.493000 0 SO:0001583 missense ENST00000372735.1 1 1 hg19 CCDS14502.1 . . . . . . . . . . C 0.041 -1.284174 0.01398 2.61E-4 0.00104 ENSG00000198908 ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735 T;T;T;T;T 0.11604 2.76;2.76;2.76;2.76;2.76 4.28 -3.82 0.04281 . 1.511530 0.04870 N 0.445679 T 0.04861 0.0131 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.04013 0.001 T 0.41556 -0.9502 9 . . . -24.6357 6.258 0.20884 0.163:0.5429:0.0:0.2941 . 154 Q6PI77 BHLH9_HUMAN V 154 ENSP00000403226:A154V;ENSP00000354675:A154V;ENSP00000405893:A154V;ENSP00000391722:A154V;ENSP00000361820:A154V . A + 2 0 BHLHB9 101891040 0.000000 0.05858 0.000000 0.03702 0.026000 0.11368 -0.898000 0.04105 -0.959000 0.03618 -0.395000 0.06472 GCG TCGA-F2-A44G-01A-11D-A26I-08 BHLHB9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057630.1 1 0 1 131 809 0 265 0 0 0 1 0 265 2 0 0 0 0 0 2 1 1.000000 130 796 0 263 2 0 0 0 0 265 2 -9.153462 1 0 121410 92 53 1 0 1 1 0.290000 1.940000 0.290000 0.950000 0.810000 1.000000 1.000000 0.947233 0.950000 1 8.800000e-01 1 TEX13A 56157 broad.mit.edu 37 X 104463929 104463929 + Missense_Mutation SNP G G T TCGA-F2-A44G-01A-11D-A26I-08 TCGA-F2-A44G-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8f8fa73-10d9-42ee-9a7c-eac949bef05e d4186fad-8051-4673-afc4-685faa0ab463 g.chrX:104463929G>T ENST00000413579.1 - 5 1058 c.947C>A c.(946-948)aCt>aAt p.T316N TEX13A_ENST00000372578.3_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000372582.1_Intron Q9BXU3 TX13A_HUMAN testis expressed 13A 8 AGGGGATATAGTGGGTATGTC 0.557000 0 SO:0001583 missense ENST00000413579.1 1 1 hg19 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 12.45|12.45 1.942954|1.942954 0.34283|0.34283 .|. .|. ENSG00000133149|ENSG00000133149 ENST00000372578;ENST00000372575|ENST00000413579 .|. .|. .|. 3.32|3.32 1.48|1.48 0.22813|0.22813 .|. .|1.263750 .|0.05914 .|N .|0.632236 T|T 0.43809|0.43809 0.1264|0.1264 L|L 0.58101|0.58101 1.795|1.795 0.09310|0.09310 N|N 1|1 .|D .|0.58268 .|0.982 .|P .|0.52598 .|0.703 T|T 0.21724|0.21724 -1.0237|-1.0237 6|9 0.87932|0.56958 D|D 0|0.05 .|. 3.943|3.943 0.09336|0.09336 0.146:0.2451:0.6089:0.0|0.146:0.2451:0.6089:0.0 .|. .|316 .|Q9BXU3 .|TX13A_HUMAN I|N 317|316 .|. ENSP00000361656:L317I|ENSP00000399753:T316N L|T -|- 1|2 2|0 TEX13A|TEX13A 104350585|104350585 0.026000|0.026000 0.19158|0.19158 0.002000|0.002000 0.10522|0.10522 0.014000|0.014000 0.08584|0.08584 1.926000|1.926000 0.40084|0.40084 0.262000|0.262000 0.21774|0.21774 -0.545000|-0.545000 0.04230|0.04230 CTA|ACT TCGA-F2-A44G-01A-11D-A26I-08 TEX13A-201 KNOWN basic|appris_principal protein_coding protein_coding 1 0 1 51 332 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 1.000000 51 329 0 78 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 0 1 1 0.290000 1.940000 0.290000 0.910000 0.690000 1.000000 1.000000 0.905350 0.910000 1 8.000000e-01 1