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 TP53 7157 broad.mit.edu 37 17 7577131 7577132 + Frame_Shift_Del DEL GC GC - TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr17:7577131_7577132delGC ENST00000269305.4 - 8 995_996 c.806_807delGC c.(805-807)agcfs p.S269fs TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) GCACCTCAAAGCTGTTCCGTCC 0.535000 111 Mis, N, F breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) Pancreas(47;798 1329 9957 10801) yes Rec yes Li-Fraumeni syndrome 17 17p13 7157 tumor protein p53 L, E, M, O 38 Whole gene deletion(8)|Deletion - In frame(7)|Substitution - Missense(7)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1) SO:0001589 frameshift_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 TCGA-FB-AAPQ-01A-11D-A40W-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 0 0 0 18 87 0 37 0 6.421336e-01 0 12 0 37 2 1 0.999990 19 86 0 36 2 -20.000000 1 1 0 0 1 0 1 1 1.616440 1 0.470000 1.900000 0.311420 0.550000 3.500000e-01 0.800000 0.550000 0.569284 0.550000 0 0.440000 0.680000 POM121C 100101267 broad.mit.edu 37 7 75070256 75070257 + Frame_Shift_Ins INS - - G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr7:75070256_75070257insG ENST00000257665.5 - 3 927_928 c.928_929insC c.(928-930)cttfs p.L310fs POM121C_ENST00000453279.2_Frame_Shift_Ins_p.L68fs A8CG34 P121C_HUMAN POM121 transmembrane nucleoporin C 14 CTGGCCATCAAGGAATATTTGG 0.460000 0 SO:0001589 frameshift_variant ENST00000257665.5 0 1 hg19 TCGA-FB-AAPQ-01A-11D-A40W-08 POM121C-003 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000343919.2 0 0 0 41 1609 0 664 0 5.524058e-02 0 15 0 664 2 1 0.999997 31 699 0 653 2 -2.323878 0 1 0 0 1 1 2 3 2.075402 0 0.470000 1.900000 0.472479 0.100000 6.000000e-02 0.150000 0.100000 0.117350 0.100000 0 0.080000 0.130000 CCDC147 0 broad.mit.edu 37 10 106166509 106166509 + Silent SNP C C A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr10:106166509C>A ENST00000369704.3 + 15 2348 c.2214C>A c.(2212-2214)atC>atA p.I738I NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN 52 Colorectal(252;0.103)|Breast(234;0.122) AGCGTCTCATCAGCAAGACTG 0.468000 0 SO:0001819 synonymous_variant ENST00000369704.3 0 1 hg19 CCDS31282.1 TCGA-FB-AAPQ-01A-11D-A40W-08 CCDC147-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050216.1 0 0 0 6 557 0 178 0 0 0 0 178 2 1 0.964155 6 552 0 177 2 -2.596454 1 1 121412 1 31 1 1 2 3 2.085566 0 0.470000 1.900000 0.474936 0.040000 1.000000e-02 1.000000 0.040000 0.080361 0.040000 0 0.020000 0.080000 PTPRE 5791 broad.mit.edu 37 10 129877829 129877829 + Missense_Mutation SNP G G T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr10:129877829G>T ENST00000254667.3 + 20 2177 c.1898G>T c.(1897-1899)gGa>gTa p.G633V PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V|PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) Alendronate(DB00630) TGCAGTGCCGGAGCTGGGCGA 0.483000 Colon(52;977 1184 20575 41685) 0 SO:0001583 missense ENST00000254667.3 0 1 hg19 CCDS7657.1 . . . . . . . . . . G 23.0 4.364034 0.82353 . . ENSG00000132334 ENST00000254667;ENST00000419012;ENST00000306042 T;T;T 0.73363 -0.74;-0.74;-0.74 4.65 4.65 0.58169 Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1); 0.000000 0.85682 D 0.000000 D 0.92655 0.7666 H 0.99573 4.635 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.998;0.999 D 0.95911 0.8923 10 0.87932 D 0 . 18.0677 0.89396 0.0:0.0:1.0:0.0 . 633;575;633 Q5VWH4;P23469-2;P23469 .;.;PTPRE_HUMAN V 633;633;575 ENSP00000254667:G633V;ENSP00000402337:G633V;ENSP00000303350:G575V ENSP00000254667:G633V G + 2 0 PTPRE 129767819 1.000000 0.71417 0.870000 0.34147 0.831000 0.47069 9.519000 0.98025 2.560000 0.86352 0.655000 0.94253 GGA TCGA-FB-AAPQ-01A-11D-A40W-08 PTPRE-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050990.1 0 0 0 67 196 0 103 1 9.904369e-01 9 15 0 103 2 1 1.000000 67 194 0 103 2 -4.881883 1 1 0 0 1 1 2 3 2.083607 0 0.470000 1.900000 0.474936 0.990000 8.700000e-01 1.000000 1.000000 0.988363 0.990000 1 0.980000 1.000000 TMEM26 219623 broad.mit.edu 37 10 63170325 63170325 + Missense_Mutation SNP A A C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr10:63170325A>C ENST00000399298.3 - 6 1230 c.862T>G c.(862-864)Ttc>Gtc p.F288V TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 18 Prostate(12;0.0112) GCGGCAAAGAACACCAGCATC 0.507000 0 SO:0001583 missense ENST00000399298.3 0 1 hg19 CCDS41530.1 . . . . . . . . . . A 32 5.156036 0.94686 . . ENSG00000196932 ENST00000399298 . . . 5.95 5.95 0.96441 . 0.000000 0.85682 D 0.000000 D 0.83908 0.5356 M 0.85777 2.775 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.86486 0.1794 9 0.87932 D 0 -0.0826 16.4288 0.83833 1.0:0.0:0.0:0.0 . 288 Q6ZUK4 TMM26_HUMAN V 288 . ENSP00000382237:F288V F - 1 0 TMEM26 62840331 1.000000 0.71417 1.000000 0.80357 0.928000 0.56348 8.906000 0.92626 2.282000 0.76494 0.533000 0.62120 TTC TCGA-FB-AAPQ-01A-11D-A40W-08 TMEM26-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359121.1 0 0 0 45 153 0 79 0 0 0 0 79 2 1 1.000000 44 152 0 79 2 -20.000000 1 1 0 0 1 1 2 3 2.085566 0 0.470000 1.900000 0.474936 0.970000 7.400000e-01 1.000000 1.000000 0.941600 0.970000 1 0.850000 1.000000 VCL 7414 broad.mit.edu 37 10 75849902 75849902 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr10:75849902G>A ENST00000211998.4 + 10 1392 c.1298G>A c.(1297-1299)cGt>cAt p.R433H VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.R433H NM_014000.2 NP_054706.1 P18206 VINC_HUMAN vinculin VCL/ALK(4) 20 Prostate(51;0.0112) GACATTCTACGTTCCCTTGGG 0.408000 0 SO:0001583 missense ENST00000211998.4 0 1 hg19 CCDS7341.1 . . . . . . . . . . G 35 5.470139 0.96274 . . ENSG00000035403 ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396 T;T;T 0.36878 1.23;1.23;1.23 5.54 5.54 0.83059 . 0.000000 0.85682 D 0.000000 T 0.56307 0.1976 L 0.51422 1.61 0.80722 D 1 D;D;P 0.71674 0.998;0.995;0.469 D;D;B 0.71184 0.972;0.96;0.118 T 0.53885 -0.8375 10 0.52906 T 0.07 . 19.546 0.95297 0.0:0.0:1.0:0.0 . 360;433;433 F5H7T3;P18206-2;P18206 .;.;VINC_HUMAN H 433;433;340;360;105 ENSP00000361841:R433H;ENSP00000211998:R433H;ENSP00000415489:R105H ENSP00000211998:R433H R + 2 0 VCL 75519908 1.000000 0.71417 0.996000 0.52242 0.996000 0.88848 9.341000 0.97041 2.626000 0.88956 0.585000 0.79938 CGT TCGA-FB-AAPQ-01A-11D-A40W-08 VCL-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding 0 0 0 10 393 0 153 0 2.661909e-01 0 37 0 153 2 1 0.996847 10 390 0 153 2 -3.167381 1 1 121412 1 30 1 1 2 3 2.085566 0 0.470000 1.900000 0.474936 0.100000 5.000000e-02 1.000000 0.100000 0.141780 0.100000 0 0.070000 0.160000 DYNC2H1 79659 broad.mit.edu 37 11 103006455 103006455 + Silent SNP A A G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:103006455A>G ENST00000375735.2 + 17 2496 c.2352A>G c.(2350-2352)ggA>ggG p.G784G DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.G784G NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) TTAGACAGGGACGATTACAAT 0.318000 0 SO:0001819 synonymous_variant ENST00000375735.2 0 1 hg19 CCDS53701.1 TCGA-FB-AAPQ-01A-11D-A40W-08 DYNC2H1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387196.1 0 0 0 33 135 0 39 1 1.056712e-01 3 0 0 39 2 1 1.000000 33 133 0 39 2 -20.000000 1 1 0 0 1 1 2 3 2.056087 0 0.470000 1.900000 0.471243 0.830000 6.000000e-01 1.000000 1.000000 0.838654 0.830000 0 0.710000 0.980000 ANKK1 255239 broad.mit.edu 37 11 113270540 113270540 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:113270540G>A ENST00000303941.3 + 8 1943 c.1849G>A c.(1849-1851)Gca>Aca p.A617T NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 p.A617S(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) AGAGAGCCACGCAAACATGGG 0.637000 1 Substitution - Missense(1) SO:0001583 missense ENST00000303941.3 0 1 hg19 CCDS44734.1 . . . . . . . . . . G 4.640 0.119014 0.08881 . . ENSG00000170209 ENST00000303941 T 0.25912 1.77 4.87 2.91 0.33838 Ankyrin repeat-containing domain (4); 0.343915 0.24211 N 0.040540 T 0.23886 0.0578 M 0.62266 1.93 0.09310 N 1 B 0.22414 0.069 B 0.17979 0.02 T 0.19745 -1.0296 10 0.48119 T 0.1 -3.4949 7.1624 0.25671 0.1698:0.0:0.693:0.1372 . 617 Q8NFD2 ANKK1_HUMAN T 617 ENSP00000306678:A617T ENSP00000306678:A617T A + 1 0 ANKK1 112775750 0.999000 0.42202 0.008000 0.14137 0.045000 0.14185 3.594000 0.54008 0.231000 0.21079 -1.119000 0.02030 GCA TCGA-FB-AAPQ-01A-11D-A40W-08 ANKK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395830.1 0 0 0 14 51 0 15 0 0 0 0 15 2 1 0.999868 14 51 0 15 2 -20.000000 1 1 121016 1 30 1 1 2 3 2.056087 0 0.470000 1.900000 0.471243 0.920000 5.500000e-01 1.000000 1.000000 0.880126 0.920000 1 0.720000 1.000000 NCAPD3 23310 broad.mit.edu 37 11 134031774 134031774 + Missense_Mutation SNP T T C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:134031774T>C ENST00000534548.2 - 28 3650 c.3586A>G c.(3586-3588)Aat>Gat p.N1196D NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) TCTATGAAATTCCTCTTCTGA 0.403000 0 SO:0001583 missense ENST00000534548.2 0 1 hg19 CCDS31723.1 . . . . . . . . . . T 21.8 4.196500 0.79015 . . ENSG00000151503 ENST00000534548;ENST00000527944;ENST00000530396 T;T;T 0.63417 -0.04;-0.04;-0.04 5.7 5.7 0.88788 Armadillo-type fold (1); 0.136711 0.64402 D 0.000004 T 0.78761 0.4334 M 0.81112 2.525 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.73708 0.981;0.974 T 0.81611 -0.0854 10 0.72032 D 0.01 -34.3963 12.4826 0.55852 0.0:0.0:0.1394:0.8606 . 1196;256 P42695;Q96FA6 CNDD3_HUMAN;. D 1196;101;232 ENSP00000433681:N1196D;ENSP00000432532:N101D;ENSP00000435173:N232D ENSP00000432532:N101D N - 1 0 NCAPD3 133536984 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 3.796000 0.55507 2.170000 0.68504 0.533000 0.62120 AAT TCGA-FB-AAPQ-01A-11D-A40W-08 NCAPD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393575.2 0 0 0 30 100 0 90 0 5.126628e-01 0 7 0 90 2 1 1.000000 29 99 0 90 2 -20.000000 1 1 0 0 1 1 2 3 2.056087 0 0.470000 1.900000 0.471243 0.980000 7.000000e-01 1.000000 1.000000 0.934355 0.980000 1 0.830000 1.000000 CYP2R1 120227 broad.mit.edu 37 11 14901766 14901766 + Nonsense_Mutation SNP C C A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:14901766C>A ENST00000334636.5 - 3 962 c.916G>T c.(916-918)Gaa>Taa p.E306* CYP2R1_ENST00000532378.1_Nonsense_Mutation_p.E73*|CYP2R1_ENST00000526489.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) ATGATGAGTTCACCCACTGAG 0.393000 NSCLC(173;1584 2058 26117 29365 41534) 0 SO:0001587 stop_gained ENST00000334636.5 0 1 hg19 CCDS7818.1 . . . . . . . . . . C 43 10.097504 0.99336 . . ENSG00000186104 ENST00000532378;ENST00000334636 . . . 6.17 6.17 0.99709 . 0.042761 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.87932 D 0 . 20.8794 0.99867 0.0:1.0:0.0:0.0 . . . . X 73;306 . ENSP00000334592:E306X E - 1 0 CYP2R1 14858342 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.818000 0.86416 2.941000 0.99782 0.655000 0.94253 GAA TCGA-FB-AAPQ-01A-11D-A40W-08 CYP2R1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000386985.1 0 0 0 12 234 0 97 0 6.401133e-02 0 8 0 97 2 1 0.999002 11 228 0 97 2 -14.089660 1 1 0 0 1 1 2 3 2.070052 0 0.470000 1.900000 0.472479 0.210000 1.100000e-01 0.370000 0.200000 0.230707 0.210000 0 0.150000 0.290000 IFITM3 10410 broad.mit.edu 37 11 319946 319946 + Silent SNP G G T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:319946G>T ENST00000399808.4 - 2 530 c.294C>A c.(292-294)gcC>gcA p.A98A IFITM3_ENST00000526811.1_Silent_p.A77A|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA NM_021034.2 NP_066362.2 Q01628 IFM3_HUMAN interferon induced transmembrane protein 3 18 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) TGGAGGCATAGGCCTGGGCCC 0.617000 0 SO:0001819 synonymous_variant ENST00000399808.4 0 1 hg19 CCDS41585.1 TCGA-FB-AAPQ-01A-11D-A40W-08 IFITM3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000384765.1 0 0 0 55 184 0 73 1 1 528 1966 0 73 2 1 1.000000 54 182 0 103 2 -20.000000 1 1 0 0 1 1 2 3 2.070052 0 0.470000 1.900000 0.472479 0.980000 7.600000e-01 1.000000 1.000000 0.948404 0.980000 1 0.860000 1.000000 GYLTL1B 120071 broad.mit.edu 37 11 45947827 45947827 + Missense_Mutation SNP T T C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:45947827T>C ENST00000531526.1 + 8 1048 c.937T>C c.(937-939)Tgt>Cgt p.C313R GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 22 GCGTCTGCCTTGTGTCTGGAA 0.597000 0 SO:0001583 missense ENST00000531526.1 0 1 hg19 CCDS31473.1 . . . . . . . . . . t 20.3 3.960946 0.74016 0.0 1.16E-4 ENSG00000165905 ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139 T;T;T;T;T;T 0.62639 2.01;2.01;2.01;0.01;2.01;2.01 5.89 5.89 0.94794 . 0.000000 0.85682 D 0.000000 D 0.82664 0.5086 M 0.88105 2.93 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.91635 0.998;0.999 D 0.86089 0.1549 10 0.87932 D 0 -28.9074 16.3188 0.82938 0.0:0.0:0.0:1.0 . 282;313 E9PIZ2;Q8N3Y3 .;LARG2_HUMAN R 282;313;313;40;313;282 ENSP00000431932:C282R;ENSP00000432869:C313R;ENSP00000385235:C313R;ENSP00000374618:C40R;ENSP00000324570:C313R;ENSP00000445044:C282R ENSP00000324570:C313R C + 1 0 GYLTL1B 45904403 1.000000 0.71417 0.995000 0.50966 0.428000 0.31595 7.688000 0.84153 2.252000 0.74401 0.520000 0.50463 TGT TCGA-FB-AAPQ-01A-11D-A40W-08 GYLTL1B-002 KNOWN alternative_5_UTR|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000392572.1 0 0 0 55 288 0 121 1 3.180715e-01 4 3 0 121 2 1 1.000000 54 284 0 120 2 -20.000000 1 1 121412 20 45 1 1 2 3 2.070052 0 0.470000 1.900000 0.472479 0.680000 5.200000e-01 0.880000 0.690000 0.694721 0.680000 0 0.600000 0.780000 CELF1 10658 broad.mit.edu 37 11 47510453 47510453 + Missense_Mutation SNP C C G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:47510453C>G ENST00000358597.3 - 1 113 c.114G>C c.(112-114)caG>caC p.Q38H CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 18 CAGCACCATACTGTTCGAAGA 0.473000 Pancreas(163;1949 1966 9906 43218 43785) 0 SO:0001583 missense ENST00000358597.3 0 1 hg19 CCDS31482.1 . . . . . . . . . . C 21.1 4.104279 0.76983 . . ENSG00000149187 ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419 T;T;T;T;T;T;T;T;T;T;T;T;T 0.17528 2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27 5.69 4.77 0.60923 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.056069 0.64402 D 0.000001 T 0.33000 0.0848 L 0.55481 1.735 0.48452 D 0.999654 D;D;P;P;D;P 0.67145 0.996;0.988;0.679;0.679;0.988;0.725 P;P;B;B;P;B 0.59595 0.86;0.792;0.111;0.111;0.792;0.116 T 0.06285 -1.0835 10 0.72032 D 0.01 -6.7424 14.3806 0.66908 0.0:0.9293:0.0:0.0707 . 38;65;65;38;38;38 F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879 .;.;.;.;.;CELF1_HUMAN H 38;38;38;38;38;65;65;38;65;38;38;65;38 ENSP00000378705:Q38H;ENSP00000351409:Q38H;ENSP00000378706:Q38H;ENSP00000308386:Q38H;ENSP00000354639:Q38H;ENSP00000436864:Q65H;ENSP00000435926:Q65H;ENSP00000433986:Q38H;ENSP00000435320:Q65H;ENSP00000436191:Q38H;ENSP00000444825:Q38H;ENSP00000438044:Q65H;ENSP00000435423:Q38H ENSP00000308386:Q38H Q - 3 2 CELF1 47467029 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.309000 0.43699 1.402000 0.46780 0.561000 0.74099 CAG TCGA-FB-AAPQ-01A-11D-A40W-08 CELF1-024 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000398352.1 0 0 0 6 685 0 290 0 9.560576e-03 0 14 0 290 2 1 0.964284 6 680 0 285 2 -3.009632 1 1 0 0 1 1 2 3 2.070052 0 0.470000 1.900000 0.472479 0.030000 0 0.090000 0.040000 0.052285 0.030000 0 0.010000 0.060000 NRXN2 9379 broad.mit.edu 37 11 64419602 64419602 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:64419602G>A ENST00000377551.1 - 12 2652 c.2441C>T c.(2440-2442)gCg>gTg p.A814V NRXN2_ENST00000265459.6_Missense_Mutation_p.A814V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|AP001092.4_ENST00000433606.1_RNA Q9P2S2 NRX2A_HUMAN neurexin 2 71 CTTGTGCCCCGCAAACAGCGT 0.572000 0 SO:0001583 missense ENST00000377551.1 0 1 hg19 CCDS8077.1 . . . . . . . . . . G 17.55 3.417206 0.62511 . . ENSG00000110076 ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571 T;T;T;T 0.78924 -1.22;-1.22;-1.22;-1.22 4.91 4.91 0.64330 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); 0.000000 0.42053 U 0.000778 T 0.68274 0.2983 L 0.37897 1.145 0.47659 D 0.999482 P;P;P 0.47545 0.897;0.871;0.643 B;B;B 0.37833 0.151;0.259;0.101 T 0.73789 -0.3872 10 0.54805 T 0.06 . 15.6201 0.76799 0.0:0.0:1.0:0.0 . 774;814;560 Q9P2S2-2;Q9P2S2;E7EV67 .;NRX2A_HUMAN;. V 814;774;814;774;807 ENSP00000366774:A814V;ENSP00000366782:A774V;ENSP00000265459:A814V;ENSP00000386416:A807V ENSP00000265459:A814V A - 2 0 NRXN2 64176178 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 4.259000 0.58828 2.553000 0.86117 0.561000 0.74099 GCG TCGA-FB-AAPQ-01A-11D-A40W-08 NRXN2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000104967.3 0 0 0 27 91 0 45 0 0 0 0 45 2 1 1.000000 26 88 0 45 2 -3.627770 1 1 121412 7 41 1 1 2 3 2.056087 0 0.470000 1.900000 0.471243 0.970000 6.800000e-01 1.000000 1.000000 0.927633 0.970000 1 0.810000 1.000000 USP35 57558 broad.mit.edu 37 11 77919947 77919947 + Silent SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr11:77919947G>A ENST00000529308.1 + 9 1791 c.1530G>A c.(1528-1530)acG>acA p.T510T USP35_ENST00000530267.1_Silent_p.T78T|USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CATCCTGGACGCCCTGGTTCA 0.622000 0 SO:0001819 synonymous_variant ENST00000529308.1 0 1 hg19 CCDS41693.1 TCGA-FB-AAPQ-01A-11D-A40W-08 USP35-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000390026.1 0 0 0 132 402 0 175 1 3.603632e-01 2 3 0 175 2 1 1.000000 130 396 0 175 2 -20.000000 1 1 120992 6 41 1 1 2 3 2.056087 0 0.470000 1.900000 0.471243 0.990000 8.900000e-01 1.000000 1.000000 0.988999 0.990000 1 0.970000 1.000000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 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 0 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-FB-AAPQ-01A-11D-A40W-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 0 0 0 45 142 0 102 1 9.998213e-01 25 20 0 102 2 1 1.000000 45 141 0 102 2 -20.000000 1 1 121404 2 44 1 1 2 3 2.097227 0 0.470000 1.900000 0.477369 0.990000 7.900000e-01 1.000000 1.000000 0.967915 0.990000 1 0.910000 1.000000 NOD2 64127 broad.mit.edu 37 16 50745137 50745137 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr16:50745137C>T ENST00000300589.2 + 4 1420 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C RP11-327F22.6_ENST00000602304.1_RNA NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 52 all_cancers(37;0.0156) GAAGTACATCCGCACCGAGTT 0.622000 0 SO:0001583 missense ENST00000300589.2 0 1 hg19 CCDS10746.1 . . . . . . . . . . C 7.462 0.644800 0.14451 0.0 1.16E-4 ENSG00000167207 ENST00000526417;ENST00000300589 T 0.79033 -1.23 5.26 3.25 0.37280 . 0.304254 0.28871 N 0.013868 T 0.72867 0.3514 M 0.65975 2.015 0.39682 D 0.97091 B;B;B 0.21606 0.05;0.058;0.046 B;B;B 0.21151 0.02;0.033;0.027 T 0.68880 -0.5292 10 0.54805 T 0.06 . 8.3773 0.32451 0.0:0.792:0.0:0.208 . 223;412;439 D6CHF9;Q9HC29-2;Q9HC29 .;.;NOD2_HUMAN C 412;439 ENSP00000300589:R439C ENSP00000300589:R439C R + 1 0 NOD2 49302638 0.028000 0.19301 0.001000 0.08648 0.212000 0.24457 0.734000 0.26101 0.562000 0.29204 0.561000 0.74099 CGC TCGA-FB-AAPQ-01A-11D-A40W-08 NOD2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256876.2 0 0 0 79 250 0 99 0 0 0 1 0 99 2 1 1.000000 77 246 0 98 2 -4.049446 1 1 121408 8 42 1 1 2 3 2.083182 0 0.470000 1.900000 0.474936 0.990000 8.300000e-01 1.000000 1.000000 0.975749 0.990000 1 0.930000 1.000000 SLC12A4 6560 broad.mit.edu 37 16 67980419 67980419 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr16:67980419G>A ENST00000316341.3 - 18 2499 c.2359C>T c.(2359-2361)Cgg>Tgg p.R787W SLC12A4_ENST00000338335.3_Intron|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W NM_001145961.1|NM_005072.4 NP_001139433.1|NP_005063.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 29 Ovarian(137;0.192) Bumetanide(DB00887)|Potassium Chloride(DB00761) GAGTTATGCCGCATGCCTCCC 0.652000 0 SO:0001583 missense ENST00000316341.3 0 1 hg19 CCDS10855.1 . . . . . . . . . . G 18.93 3.728223 0.69074 0.0 1.16E-4 ENSG00000124067 ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341 D;D;D;D 0.92595 -3.07;-3.07;-3.07;-3.07 4.57 2.23 0.28157 . 0.048575 0.85682 D 0.000000 D 0.94837 0.8332 M 0.80982 2.52 0.80722 D 1 D;D;D;D;D;D 0.63046 0.989;0.986;0.992;0.992;0.992;0.986 P;P;D;P;P;P 0.63381 0.877;0.582;0.914;0.761;0.828;0.582 D 0.93878 0.7168 10 0.87932 D 0 . 11.329 0.49465 0.0:0.0:0.3051:0.6949 . 789;787;756;781;787;787 F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95 .;.;.;.;.;S12A4_HUMAN W 789;756;781;787 ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W ENSP00000318557:R787W R - 1 2 SLC12A4 66537920 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 3.502000 0.53332 0.220000 0.20860 -0.262000 0.10625 CGG TCGA-FB-AAPQ-01A-11D-A40W-08 SLC12A4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268864.4 0 0 0 5 293 0 100 0 4.855636e-02 0 17 0 100 2 1 0.933504 5 286 0 100 2 -2.416984 0 1 121396 1 32 1 1 2 3 2.077825 0 0.470000 1.900000 0.474936 0.070000 2.000000e-02 1.000000 0.080000 0.111909 0.070000 0 0.040000 0.120000 ADAMTS18 170692 broad.mit.edu 37 16 77317858 77317858 + Missense_Mutation SNP T T C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr16:77317858T>C ENST00000282849.5 - 23 4079 c.3661A>G c.(3661-3663)Atc>Gtc p.I1221V RP11-538I12.3_ENST00000561672.1_RNA NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 118 CAAGATCAGATCTTCCTTGTG 0.512000 0 SO:0001583 missense ENST00000282849.5 0 1 hg19 CCDS10926.1 . . . . . . . . . . T 16.71 3.199573 0.58126 . . ENSG00000140873 ENST00000282849 T 0.59083 0.29 5.82 5.82 0.92795 PLAC (1); 0.342462 0.35320 N 0.003290 T 0.40595 0.1123 N 0.08118 0 0.34873 D 0.743774 B 0.16396 0.017 B 0.15870 0.014 T 0.51545 -0.8692 10 0.87932 D 0 . 15.3675 0.74535 0.0:0.0:0.0:1.0 . 1221 Q8TE60 ATS18_HUMAN V 1221 ENSP00000282849:I1221V ENSP00000282849:I1221V I - 1 0 ADAMTS18 75875359 1.000000 0.71417 1.000000 0.80357 0.748000 0.42578 5.218000 0.65257 2.225000 0.72522 0.533000 0.62120 ATC TCGA-FB-AAPQ-01A-11D-A40W-08 ADAMTS18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269037.1 0 0 0 15 267 0 107 0 0 0 0 107 2 1 0.999870 15 263 0 107 2 -17.687750 1 1 0 0 1 1 2 3 2.076040 0 0.470000 1.900000 0.472479 0.230000 1.300000e-01 0.380000 0.220000 0.247358 0.230000 0 0.170000 0.300000 ZCCHC14 23174 broad.mit.edu 37 16 87466772 87466772 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr16:87466772G>A ENST00000268616.4 - 3 536 c.319C>T c.(319-321)Cac>Tac p.H107Y NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 36 TTTTTTGTGTGTGATAATCCC 0.343000 0 SO:0001583 missense ENST00000268616.4 0 1 hg19 CCDS10961.1 . . . . . . . . . . G 19.82 3.898473 0.72639 . . ENSG00000140948 ENST00000268616 T 0.67865 -0.29 5.09 5.09 0.68999 Phox homologous domain (1); 0.000000 0.85682 D 0.000000 T 0.78572 0.4304 L 0.60455 1.87 0.35943 D 0.833362 D 0.63880 0.993 D 0.70227 0.968 D 0.84115 0.0403 10 0.72032 D 0.01 -25.1339 15.7875 0.78319 0.0:0.0:1.0:0.0 . 107 Q8WYQ9 ZCH14_HUMAN Y 107 ENSP00000268616:H107Y ENSP00000268616:H107Y H - 1 0 ZCCHC14 86024273 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 3.594000 0.54008 2.529000 0.85273 0.563000 0.77884 CAC TCGA-FB-AAPQ-01A-11D-A40W-08 ZCCHC14-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269107.1 0 0 0 4 144 0 75 0 1.756678e-02 0 6 0 75 2 1 0.884889 4 140 0 74 2 -6.257671 1 1 0 0 1 1 2 3 2.076040 0 0.470000 1.900000 0.472479 0.120000 4.000000e-02 0.310000 0.120000 0.149848 0.120000 0 0.070000 0.200000 SRCIN1 80725 broad.mit.edu 37 17 36709027 36709027 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr17:36709027C>T ENST00000264659.7 - 12 2490 c.2266G>A c.(2266-2268)Ggc>Agc p.G756S SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 19 AGCTCAGGGCCGGGCACCAGC 0.612000 0 SO:0001583 missense ENST00000264659.7 0 1 hg19 CCDS45660.1 . . . . . . . . . . C 15.76 2.929532 0.52759 0.0 2.36E-4 ENSG00000017373 ENST00000264659;ENST00000542707;ENST00000398579 T 0.50548 0.74 4.85 4.85 0.62838 . 0.112392 0.64402 D 0.000014 T 0.39462 0.1079 L 0.36672 1.1 0.46416 D 0.999031 P;P;P;P 0.45428 0.858;0.625;0.625;0.625 B;B;B;B 0.38020 0.263;0.128;0.128;0.128 T 0.43861 -0.9365 10 0.56958 D 0.05 -30.4219 17.2494 0.87038 0.0:1.0:0.0:0.0 . 62;628;628;756 Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5 .;.;SRCN1_HUMAN;. S 756;537;610 ENSP00000264659:G756S ENSP00000264659:G756S G - 1 0 SRCIN1 33962553 0.651000 0.27340 0.957000 0.39632 0.297000 0.27493 5.445000 0.66594 2.678000 0.91216 0.555000 0.69702 GGC TCGA-FB-AAPQ-01A-11D-A40W-08 SRCIN1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000441878.4 0 0 0 87 270 0 137 0 2.529929e-01 0 4 0 137 2 1 1.000000 83 263 0 136 2 -3.318794 1 1 120998 45 47 1 1 2 3 2.096221 0 0.470000 1.900000 0.477369 0.990000 8.600000e-01 1.000000 1.000000 0.983537 0.990000 1 0.950000 1.000000 COLEC12 81035 broad.mit.edu 37 18 335116 335116 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr18:335116G>A ENST00000400256.3 - 6 1649 c.1442C>T c.(1441-1443)gCg>gTg p.A481V NM_130386.2 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TCTCTCACCCGCAGGGCCAGG 0.652000 0 SO:0001583 missense ENST00000400256.3 0 1 hg19 CCDS32782.1 . . . . . . . . . . G 3.103 -0.184432 0.06340 . . ENSG00000158270 ENST00000400256 T 0.17213 2.29 5.67 3.86 0.44501 . 0.260619 0.44483 D 0.000456 T 0.09774 0.0240 N 0.20328 0.56 0.09310 N 1 B 0.10296 0.003 B 0.08055 0.003 T 0.17868 -1.0355 10 0.26408 T 0.33 -17.5347 8.4346 0.32780 0.1196:0.0:0.7477:0.1327 . 481 Q5KU26 COL12_HUMAN V 481 ENSP00000383115:A481V ENSP00000383115:A481V A - 2 0 COLEC12 325116 0.000000 0.05858 0.137000 0.22149 0.025000 0.11179 0.946000 0.29069 2.659000 0.90383 0.655000 0.94253 GCG TCGA-FB-AAPQ-01A-11D-A40W-08 COLEC12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000440746.1 0 0 0 9 276 0 79 0 7.550262e-03 0 4 0 79 2 1 0.993539 9 267 0 79 2 -3.025834 1 1 121268 2 33 1 1 2 3 2.066966 0 0.470000 1.900000 0.472479 0.130000 6.000000e-02 0.270000 0.140000 0.156724 0.130000 0 0.090000 0.200000 SMAD4 4089 broad.mit.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr18:48591919G>A ENST00000342988.3 + 9 1620 c.1082G>A c.(1081-1083)cGc>cAc p.R361H SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 p.0?(36)|p.R361H(12)|p.?(2) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) GGAGGAGATCGCTTTTGTTTG 0.413000 50 Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2) GRCh37 CM004254 SMAD4 M SO:0001583 missense ENST00000342988.3 0 1 hg19 CCDS11950.1 . . . . . . . . . . G 35 5.477304 0.96291 . . ENSG00000141646 ENST00000342988;ENST00000544926;ENST00000398417 D;D 0.98120 -4.73;-4.73 5.86 5.86 0.93980 SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3); 0.000000 0.85682 D 0.000000 D 0.98852 0.9612 M 0.86028 2.79 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.99741 1.1015 10 0.87932 D 0 . 18.9646 0.92691 0.0:0.0:1.0:0.0 . 361 Q13485 SMAD4_HUMAN H 361 ENSP00000341551:R361H;ENSP00000381452:R361H ENSP00000341551:R361H R + 2 0 SMAD4 46845917 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.828000 0.86729 2.771000 0.95319 0.563000 0.77884 CGC TCGA-FB-AAPQ-01A-11D-A40W-08 SMAD4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255993.3 0 0 0 61 144 0 107 1 9.975555e-01 18 7 0 107 2 1 1.000000 60 143 0 105 2 -20.000000 1 1 0 0 1 0 1 1 1.599815 1 0.470000 1.900000 0.309311 0.910000 7.500000e-01 1.000000 1.000000 0.912440 0.910000 1 0.830000 0.980000 HAUS8 93323 broad.mit.edu 37 19 17173553 17173553 + Missense_Mutation SNP T T A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr19:17173553T>A ENST00000253669.5 - 4 374 c.184A>T c.(184-186)Atg>Ttg p.M62L HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L|HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 12 CCTTCAGACATCTTCCCTCGG 0.537000 0 SO:0001583 missense ENST00000253669.5 0 1 hg19 CCDS32948.1 . . . . . . . . . . T 2.950 -0.216853 0.06101 . . ENSG00000131351 ENST00000253669;ENST00000448593 T;T 0.42513 0.98;0.97 2.45 -2.04 0.07343 . 0.866434 0.09993 N 0.729472 T 0.31638 0.0803 L 0.51422 1.61 0.09310 N 1 B;B;B 0.09022 0.002;0.001;0.001 B;B;B 0.06405 0.002;0.001;0.001 T 0.25745 -1.0123 10 0.27785 T 0.31 -2.9844 7.0491 0.25063 0.0:0.5648:0.0:0.4352 . 1;62;62 Q9BT25-2;C9JBZ4;Q9BT25 .;.;HAUS8_HUMAN L 62 ENSP00000253669:M62L;ENSP00000395298:M62L ENSP00000253669:M62L M - 1 0 HAUS8 17034553 0.001000 0.12720 0.000000 0.03702 0.006000 0.05464 -0.360000 0.07622 -0.611000 0.05709 -0.379000 0.06801 ATG TCGA-FB-AAPQ-01A-11D-A40W-08 HAUS8-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000463015.1 0 0 0 19 385 0 173 0 2.278999e-02 1 4 0 173 2 1 0.999990 19 378 0 169 2 -19.677420 1 1 0 0 1 1 2 3 2.130903 0 0.470000 1.900000 0.480977 0.210000 1.200000e-01 1.000000 0.210000 0.270681 0.210000 0 0.160000 0.280000 LILRA2 11027 broad.mit.edu 37 19 55086476 55086476 + Missense_Mutation SNP G G T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr19:55086476G>T ENST00000251377.3 + 5 764 c.631G>T c.(631-633)Gat>Tat p.D211Y LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000448689.1_Intron Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 50 TCTACCCAGTGATCTCCTGGA 0.587000 0 SO:0001583 missense ENST00000251377.3 0 1 hg19 CCDS46179.1 . . . . . . . . . . G 12.55 1.971086 0.34754 . . ENSG00000239998 ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737 T;T;T;T;T 0.01051 5.4;5.4;5.4;5.4;5.4 2.8 1.75 0.24633 Immunoglobulin-like fold (1); 1.008970 0.07965 N 0.983077 T 0.08313 0.0207 M 0.93808 3.46 0.09310 N 0.999993 P;D;P;D 0.89917 0.748;0.993;0.808;1.0 B;P;B;D 0.69824 0.246;0.906;0.281;0.966 T 0.18967 -1.0320 9 . . . . 5.0171 0.14343 0.1716:0.0:0.8284:0.0 . 211;199;211;211 E9PDF4;A8MZH0;Q8N149;Q8N149-2 .;.;LIRA2_HUMAN;. Y 211;211;211;211;199 ENSP00000388131:D211Y;ENSP00000251377:D211Y;ENSP00000375618:D211Y;ENSP00000251376:D211Y;ENSP00000375617:D199Y . D + 1 0 LILRA2 59778288 0.001000 0.12720 0.059000 0.19551 0.037000 0.13140 0.087000 0.14958 1.570000 0.49709 0.400000 0.26472 GAT TCGA-FB-AAPQ-01A-11D-A40W-08 LILRA2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000140813.2 0 0 0 138 275 0 221 0 0 0 0 221 2 1 1.000000 135 271 0 219 2 -20.000000 1 1 121412 1 36 1 0 1 1 1.647110 1 0.470000 1.900000 0.323807 0.990000 9.200000e-01 1.000000 1.000000 0.993698 0.990000 1 0.980000 1.000000 HRNR 388697 broad.mit.edu 37 1 152191773 152191773 + Missense_Mutation SNP G G C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:152191773G>C ENST00000368801.2 - 3 2407 c.2332C>G c.(2332-2334)Cgt>Ggt p.R778G 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) TGTCGGACACGGCTAGGAGAG 0.592000 0 SO:0001583 missense ENST00000368801.2 0 1 hg19 CCDS30859.1 . . . . . . . . . . - 5.505 0.278141 0.10403 . . ENSG00000197915 ENST00000368801 T 0.03801 3.8 3.06 0.0247 0.14143 . . . . . T 0.00754 0.0025 N 0.19112 0.55 0.09310 N 1 B 0.27013 0.166 B 0.17722 0.019 T 0.47182 -0.9137 9 0.14252 T 0.57 . 5.1534 0.15021 0.627:0.0:0.373:0.0 . 778 Q86YZ3 HORN_HUMAN G 778 ENSP00000357791:R778G ENSP00000357791:R778G R - 1 0 HRNR 150458397 0.000000 0.05858 0.000000 0.03702 0.004000 0.04260 -1.096000 0.03353 -0.095000 0.12351 0.508000 0.49915 CGT TCGA-FB-AAPQ-01A-11D-A40W-08 HRNR-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000034016.1 0 0 0 7 437 0 157 0 0 0 0 157 2 1 0.978272 7 422 0 154 2 -3.300063 1 1 121412 5 43 1 1 2 3 2.507023 1 0.470000 1.900000 0.570032 0.080000 3.000000e-02 0.170000 0.090000 0.093993 0.080000 0 0.050000 0.130000 FCRL1 115350 broad.mit.edu 37 1 157769869 157769869 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:157769869C>T ENST00000368176.3 - 7 1077 c.1010G>A c.(1009-1011)cGt>cAt p.R337H FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000358292.3_Missense_Mutation_p.R298H|FCRL1_ENST00000489998.1_5'UTR NM_001159398.1|NM_052938.4 NP_001152870.1|NP_443170.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTGGCTGAACGTCTTCCTGA 0.408000 GBM(54;482 1003 11223 30131 35730) 0 SO:0001583 missense ENST00000368176.3 0 1 hg19 CCDS1170.1 . . . . . . . . . . C 10.74 1.436657 0.25900 . . ENSG00000163534 ENST00000358292;ENST00000368176;ENST00000491942 T;T;T 0.46451 0.87;1.06;1.09 5.03 -0.412 0.12367 . 1.215290 0.05705 N 0.594801 T 0.11623 0.0283 L 0.45581 1.43 0.09310 N 1 B;B;B 0.33739 0.105;0.422;0.064 B;B;B 0.25506 0.027;0.061;0.012 T 0.22068 -1.0227 10 0.45353 T 0.12 . 0.9423 0.01358 0.162:0.4013:0.1578:0.279 . 298;337;337 Q96LA6-3;Q96LA6-2;Q96LA6 .;.;FCRL1_HUMAN H 298;337;337 ENSP00000351039:R298H;ENSP00000357158:R337H;ENSP00000418130:R337H ENSP00000351039:R298H R - 2 0 FCRL1 156036493 0.001000 0.12720 0.029000 0.17559 0.036000 0.12997 -0.669000 0.05262 -0.134000 0.11516 -0.136000 0.14681 CGT TCGA-FB-AAPQ-01A-11D-A40W-08 FCRL1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000051401.1 0 0 0 8 397 0 90 0 0 0 0 90 2 1 0.989422 8 396 0 88 2 -7.504347 1 1 0 0 1 1 4 5 3.454336 1 0.470000 1.900000 0.687859 0.140000 6.000000e-02 0.280000 0.150000 0.159669 0.140000 0 0.090000 0.210000 SPTA1 6708 broad.mit.edu 37 1 158653248 158653248 + Silent SNP C C A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:158653248C>A ENST00000368147.4 - 3 483 c.303G>T c.(301-303)gtG>gtT p.V101V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 307 all_hematologic(112;0.0378) ATTTTGTTTGCACCTCTGCTT 0.398000 0 SO:0001819 synonymous_variant ENST00000368147.4 0 1 hg19 CCDS41423.1 TCGA-FB-AAPQ-01A-11D-A40W-08 SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 0 0 0 6 683 1 170 0 0 0 1 170 2 0 0.036413 6 678 1 169 15 -2.914627 1 1 0 0 1 1 4 5 3.454336 1 0.470000 1.900000 0.687859 0.060000 0 0.140000 0.050000 0.070296 0.060000 0 0.030000 0.110000 DEDD 9191 broad.mit.edu 37 1 161092295 161092295 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:161092295C>T ENST00000368006.3 - 6 813 c.599G>A c.(598-600)cGg>cAg p.R200Q NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000392188.1_Missense_Mutation_p.R230Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000490843.2_Missense_Mutation_p.R200Q NM_032998.2 NP_127491.1 O75618 DEDD_HUMAN death effector domain containing p.R200L(1) 10 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GTATTCAGCCCGAACCCGCAG 0.493000 1 Substitution - Missense(1) SO:0001583 missense ENST00000368006.3 0 1 hg19 CCDS1219.1 . . . . . . . . . . C 25.7 4.662293 0.88251 . . ENSG00000158796 ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389 . . . 5.03 5.03 0.67393 . 0.000000 0.85682 D 0.000000 T 0.72630 0.3484 M 0.68952 2.095 0.80722 D 1 D;D;D 0.89917 0.996;1.0;1.0 P;D;D 0.80764 0.694;0.994;0.982 T 0.74386 -0.3682 9 0.59425 D 0.04 . 15.9207 0.79570 0.0:1.0:0.0:0.0 . 157;230;200 B4DKM1;B1AQP5;O75618 .;.;DEDD_HUMAN Q 200;230;200;200;200;230;157 . ENSP00000356984:R230Q R - 2 0 DEDD 159358919 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 7.629000 0.83207 2.620000 0.88729 0.655000 0.94253 CGG TCGA-FB-AAPQ-01A-11D-A40W-08 DEDD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000080582.1 0 0 0 56 514 0 97 1 9.999841e-01 27 120 0 97 2 1 1.000000 55 507 0 94 2 -2.578431 1 1 121412 1 28 1 1 4 5 3.454336 1 0.470000 1.900000 0.687859 0.710000 5.400000e-01 0.910000 0.700000 0.719348 0.710000 0 0.620000 0.810000 FCER1G 2207 broad.mit.edu 37 1 161187859 161187859 + Nonsense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:161187859C>T ENST00000289902.1 + 2 158 c.133C>T c.(133-135)Cga>Tga p.R45* FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*|AL590714.1_ENST00000594609.1_5'Flank NM_004106.1 NP_004097.1 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide 6 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) CCTCTACTGTCGACTGAAGGT 0.562000 0 SO:0001587 stop_gained ENST00000289902.1 0 1 hg19 CCDS1225.1 . . . . . . . . . . C 27.1 4.797467 0.90538 . . ENSG00000158869 ENST00000367992;ENST00000289902 . . . 5.67 4.73 0.59995 . 0.000000 0.53938 D 0.000051 . . . . . . 0.80722 A 1.000000 . . . . . . . . . . 0.02654 T 1 . 11.7665 0.51933 0.1759:0.8241:0.0:0.0 . . . . X 45 . ENSP00000289902:R45X R + 1 2 FCER1G 159454483 0.983000 0.35010 1.000000 0.80357 0.992000 0.81027 1.508000 0.35769 1.348000 0.45733 0.561000 0.74099 CGA TCGA-FB-AAPQ-01A-11D-A40W-08 FCER1G-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000083012.1 0 0 0 117 803 0 173 0 9.998355e-01 0 86 0 173 2 1 1.000000 115 786 0 170 2 -20.000000 1 1 121412 2 38 1 1 4 5 3.454336 1 0.470000 1.900000 0.687859 0.910000 7.600000e-01 1.000000 1.000000 0.915971 0.910000 1 0.830000 1.000000 CFHR5 81494 broad.mit.edu 37 1 196952162 196952162 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:196952162G>A ENST00000256785.4 + 2 315 c.206G>A c.(205-207)cGc>cAc p.R69H CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H Q9BXR6 FHR5_HUMAN complement factor H-related 5 p.R69H(1) 49 TTTTGGACTCGCATAACATGC 0.393000 1 Substitution - Missense(1) SO:0001583 missense ENST00000256785.4 0 1 hg19 CCDS1387.1 . . . . . . . . . . . 11.96 1.794607 0.31777 2.27E-4 0.0 ENSG00000134389 ENST00000367414;ENST00000256785 T;T 0.64803 -0.12;-0.12 2.45 -4.13 0.03904 Complement control module (2);Sushi/SCR/CCP (2); . . . . T 0.45296 0.1335 L 0.46157 1.445 0.09310 N 1 B 0.25521 0.128 B 0.20955 0.032 T 0.24728 -1.0152 9 0.31617 T 0.26 . 4.0223 0.09672 0.3876:0.3452:0.2672:0.0 . 69 Q9BXR6 FHR5_HUMAN H 93;69 ENSP00000356384:R93H;ENSP00000256785:R69H ENSP00000256785:R69H R + 2 0 CFHR5 195218785 0.000000 0.05858 0.002000 0.10522 0.603000 0.37013 -2.581000 0.00906 -1.048000 0.03238 0.305000 0.20034 CGC TCGA-FB-AAPQ-01A-11D-A40W-08 CFHR5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000088814.2 0 0 0 5 404 0 200 0 0 0 0 200 2 1 0.937098 5 402 0 197 2 -2.234064 0 1 121410 6 41 1 1 2 3 2.062215 0 0.470000 1.900000 0.471243 0.050000 1.000000e-02 0.120000 0.060000 0.062064 0.050000 0 0.030000 0.090000 PROX1 5629 broad.mit.edu 37 1 214171246 214171246 + Silent SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:214171246C>T ENST00000366958.4 + 2 1976 c.1368C>T c.(1366-1368)gcC>gcT p.A456A PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 47 CCGGCCCTGCCGCTGGCGGCC 0.642000 0 SO:0001819 synonymous_variant ENST00000366958.4 0 1 hg19 CCDS31021.1 TCGA-FB-AAPQ-01A-11D-A40W-08 PROX1-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000089727.6 0 0 0 5 465 0 128 0 2.686419e-03 0 6 0 128 2 1 0.926781 5 437 0 126 2 -2.768843 1 1 0 0 1 1 2 3 2.062215 0 0.470000 1.900000 0.471243 0.040000 0 0.110000 0.040000 0.053996 0.040000 0 0.020000 0.080000 CHML 1122 broad.mit.edu 37 1 241798099 241798099 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr1:241798099C>T ENST00000366553.1 - 1 1133 c.970G>A c.(970-972)Gaa>Aaa p.E324K OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTTAAGTATTCTGAAAATGAA 0.343000 0 SO:0001583 missense ENST00000366553.1 0 1 hg19 CCDS31073.1 . . . . . . . . . . C 17.34 3.363993 0.61513 . . ENSG00000203668 ENST00000366553 T 0.61510 0.1 4.96 4.96 0.65561 . 0.286583 0.37012 N 0.002299 T 0.63873 0.2548 . . . 0.48288 D 0.999624 P 0.35923 0.528 P 0.45099 0.469 T 0.66862 -0.5816 9 0.66056 D 0.02 -7.2311 16.126 0.81395 0.0:1.0:0.0:0.0 . 324 P26374 RAE2_HUMAN K 324 ENSP00000355511:E324K ENSP00000355511:E324K E - 1 0 CHML 239864722 1.000000 0.71417 1.000000 0.80357 0.924000 0.55760 3.515000 0.53429 2.752000 0.94435 0.655000 0.94253 GAA TCGA-FB-AAPQ-01A-11D-A40W-08 CHML-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000095712.1 0 0 0 15 382 0 163 1 4.935423e-03 2 1 0 163 2 1 0.999865 15 378 0 162 2 -3.495506 1 1 0 0 1 1 2 3 2.062215 0 0.470000 1.900000 0.471243 0.160000 9.000000e-02 0.260000 0.160000 0.170557 0.160000 0 0.120000 0.210000 BMP7 655 broad.mit.edu 37 20 55758862 55758862 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr20:55758862G>A ENST00000395863.3 - 4 1379 c.874C>T c.(874-876)Cgg>Tgg p.R292W BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W|BMP7_ENST00000460817.1_5'UTR NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CCCGTGGACCGGATGCTGCGG 0.637000 0 SO:0001583 missense ENST00000395863.3 0 1 hg19 CCDS13455.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 28.8|28.8 4.954563|4.954563 0.92726|0.92726 .|. .|. ENSG00000101144|ENSG00000101144 ENST00000433911|ENST00000395863;ENST00000450594 .|T;D .|0.83075 .|-1.19;-1.68 5.48|5.48 4.52|4.52 0.55395|0.55395 .|. .|0.049998 .|0.85682 .|D .|0.000000 D|D 0.89083|0.89083 0.6614|0.6614 L|L 0.55990|0.55990 1.75|1.75 0.80722|0.80722 D|D 1|1 .|D;D .|0.89917 .|1.0;1.0 .|D;D .|0.97110 .|0.985;1.0 D|D 0.90219|0.90219 0.4270|0.4270 5|10 .|0.87932 .|D .|0 .|. 16.2622|16.2622 0.82552|0.82552 0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0 .|. .|292;292 .|P18075;B1AL00 .|BMP7_HUMAN;. L|W 213|292 .|ENSP00000379204:R292W;ENSP00000398687:R292W .|ENSP00000379204:R292W P|R -|- 2|1 0|2 BMP7|BMP7 55192269|55192269 1.000000|1.000000 0.71417|0.71417 0.770000|0.770000 0.31555|0.31555 0.984000|0.984000 0.73092|0.73092 9.580000|9.580000 0.98207|0.98207 1.271000|1.271000 0.44313|0.44313 0.643000|0.643000 0.83706|0.83706 CCG|CGG TCGA-FB-AAPQ-01A-11D-A40W-08 BMP7-001 KNOWN basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000079831.2 0 0 0 109 286 1 120 0 0 0 1 1 120 2 1 1.000000 107 279 1 117 13 -6.483964 1 1 0 0 1 1 2 3 2.138800 0 0.470000 1.900000 0.482169 0.990000 9.900000e-01 1.000000 1.000000 0.999532 0.990000 1 0.990000 1.000000 INPP5J 27124 broad.mit.edu 37 22 31523352 31523352 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr22:31523352G>A ENST00000331075.5 + 6 1670 c.1621G>A c.(1621-1623)Ggt>Agt p.G541S INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000402238.1_5'Flank NM_001284285.1 NP_001271214.1 Q15735 PI5PA_HUMAN inositol polyphosphate-5-phosphatase J 12 GGGTAACAAGGGTGGCGTGAG 0.637000 0 SO:0001583 missense ENST00000331075.5 0 1 hg19 . . . . . . . . . . G 35 5.565391 0.96527 . . ENSG00000185133 ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390 D;D;D;D;D 0.96913 -4.17;-4.17;-4.17;-4.17;-4.17 4.37 4.37 0.52481 Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1); 0.000000 0.85682 D 0.000000 D 0.98713 0.9568 H 0.95187 3.635 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 D 0.99744 1.1016 10 0.87932 D 0 . 17.8398 0.88712 0.0:0.0:1.0:0.0 . 541;173 Q15735;Q15735-3 PI5PA_HUMAN;. S 541;474;174;174;173 ENSP00000333262:G541S;ENSP00000392924:G474S;ENSP00000383150:G174S;ENSP00000384596:G174S;ENSP00000384534:G173S ENSP00000333262:G541S G + 1 0 INPP5J 29853352 1.000000 0.71417 0.997000 0.53966 0.977000 0.68977 9.453000 0.97619 2.363000 0.80096 0.655000 0.94253 GGT TCGA-FB-AAPQ-01A-11D-A40W-08 INPP5J-002 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000321784.1 0 0 0 19 72 0 19 1 4.804393e-02 2 0 0 19 2 1 0.999995 17 72 0 19 2 -20.000000 1 1 0 0 1 1 2 3 2.100040 0 0.470000 1.900000 0.477369 0.910000 5.800000e-01 1.000000 1.000000 0.883317 0.910000 1 0.730000 1.000000 REV1 51455 broad.mit.edu 37 2 100027216 100027216 + Silent SNP A A C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:100027216A>C ENST00000258428.3 - 14 2514 c.2286T>G c.(2284-2286)ccT>ccG p.P762P REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.P761P NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 39 CAGGAGCCCCAGGCTTTCGTA 0.398000 Direct reversal of damage 0 SO:0001819 synonymous_variant ENST00000258428.3 0 1 hg19 CCDS2045.1 TCGA-FB-AAPQ-01A-11D-A40W-08 REV1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000253123.2 0 0 0 103 404 0 194 1 9.198008e-01 9 10 0 194 2 1 1.000000 102 400 0 191 2 -20.000000 1 1 0 0 1 1 2 3 2.061050 0 0.470000 1.900000 0.471243 0.860000 7.100000e-01 1.000000 1.000000 0.867952 0.860000 1 0.780000 0.950000 IL18RAP 8807 broad.mit.edu 37 2 103068312 103068312 + Missense_Mutation SNP A A G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:103068312A>G ENST00000264260.2 + 12 2060 c.1471A>G c.(1471-1473)Atc>Gtc p.I491V IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 37 TGGACCCAGTATCTTTGAACT 0.383000 0 SO:0001583 missense ENST00000264260.2 0 1 hg19 CCDS2061.1 . . . . . . . . . . A 0.008 -1.864991 0.00547 . . ENSG00000115607 ENST00000264260;ENST00000409369 T;T 0.07800 3.16;3.16 6.02 -7.56 0.01322 Toll/interleukin-1 receptor homology (TIR) domain (4); 0.966608 0.08561 N 0.927536 T 0.03871 0.0109 N 0.13352 0.335 0.09310 N 0.999999 B 0.09022 0.002 B 0.10450 0.005 T 0.46978 -0.9152 10 0.13470 T 0.59 . 10.3177 0.43747 0.5517:0.241:0.2073:0.0 . 491 O95256 I18RA_HUMAN V 491;349 ENSP00000264260:I491V;ENSP00000387201:I349V ENSP00000264260:I491V I + 1 0 IL18RAP 102434744 0.001000 0.12720 0.000000 0.03702 0.029000 0.11900 -0.198000 0.09505 -1.839000 0.01186 -0.917000 0.02746 ATC TCGA-FB-AAPQ-01A-11D-A40W-08 IL18RAP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253291.2 0 0 0 19 407 0 198 0 0 0 0 198 2 1 0.999991 19 404 0 198 2 -19.530980 1 1 0 0 1 1 2 3 2.061050 0 0.470000 1.900000 0.471243 0.190000 1.100000e-01 0.290000 0.190000 0.198789 0.190000 0 0.150000 0.240000 SNTG2 54221 broad.mit.edu 37 2 1243542 1243542 + Silent SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:1243542C>T ENST00000308624.5 + 11 1011 c.882C>T c.(880-882)tcC>tcT p.S294S SNTG2_ENST00000407292.1_Silent_p.S167S NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) GCTCTCCTTCCGACCAGGTAG 0.473000 0 SO:0001819 synonymous_variant ENST00000308624.5 0 1 hg19 CCDS46220.1 TCGA-FB-AAPQ-01A-11D-A40W-08 SNTG2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000322454.1 0 0 0 27 44 0 31 0 0 0 1 0 31 2 1 1.000000 26 43 0 31 2 -6.637137 1 1 121014 5 38 1 0 1 1 1.576691 1 0.470000 1.900000 0.307190 0.930000 7.400000e-01 1.000000 0.990000 0.923341 0.930000 1 0.850000 0.990000 ZNF804A 91752 broad.mit.edu 37 2 185802417 185802417 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:185802417C>T ENST00000302277.6 + 4 2888 c.2294C>T c.(2293-2295)tCa>tTa p.S765L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 146 ATGAATGAATCAGAAAGATTC 0.338000 0 SO:0001583 missense ENST00000302277.6 0 1 hg19 CCDS2291.1 . . . . . . . . . . C 16.08 3.022703 0.54683 . . ENSG00000170396 ENST00000302277 T 0.05925 3.37 5.85 5.85 0.93711 . 0.288957 0.24764 N 0.035786 T 0.09730 0.0239 L 0.47716 1.5 0.35829 D 0.825133 P 0.35077 0.483 B 0.33392 0.163 T 0.06881 -1.0802 10 0.87932 D 0 -6.925 19.1378 0.93435 0.0:1.0:0.0:0.0 . 765 Q7Z570 Z804A_HUMAN L 765 ENSP00000303252:S765L ENSP00000303252:S765L S + 2 0 ZNF804A 185510662 0.129000 0.22400 0.694000 0.30210 0.985000 0.73830 2.805000 0.47939 2.755000 0.94549 0.655000 0.94253 TCA TCGA-FB-AAPQ-01A-11D-A40W-08 ZNF804A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255871.1 0 0 0 67 264 0 134 0 0 0 0 134 2 1 1.000000 67 263 0 134 2 -20.000000 1 0 0 0 1 0 0 0 1.976499 0 0.470000 1.900000 0.449293 0.820000 6.500000e-01 1.000000 0.830000 0.831741 0.820000 0 0.730000 0.920000 EPHA4 2043 broad.mit.edu 37 2 222301271 222301271 + Missense_Mutation SNP A A G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:222301271A>G ENST00000281821.2 - 13 2235 c.2194T>C c.(2194-2196)Tct>Cct p.S732P EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 49 Renal(207;0.0183) TTCATCCCAGACCCAATGCCA 0.453000 0 SO:0001583 missense ENST00000281821.2 0 1 hg19 CCDS2447.1 . . . . . . . . . . A 19.69 3.874684 0.72180 . . ENSG00000116106 ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071 D;D;D;D 0.83335 -1.71;-1.71;-1.71;-1.71 5.98 5.98 0.97165 Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 D 0.92808 0.7713 M 0.91818 3.245 0.80722 D 1 D 0.89917 1.0 D 0.71870 0.975 D 0.94191 0.7441 10 0.87932 D 0 . 16.4684 0.84092 1.0:0.0:0.0:0.0 . 732 P54764 EPHA4_HUMAN P 732;732;732;681 ENSP00000281821:S732P;ENSP00000386276:S732P;ENSP00000386829:S732P;ENSP00000375923:S681P ENSP00000281821:S732P S - 1 0 EPHA4 222009515 1.000000 0.71417 0.981000 0.43875 0.915000 0.54546 7.306000 0.78905 2.289000 0.77006 0.460000 0.39030 TCT TCGA-FB-AAPQ-01A-11D-A40W-08 EPHA4-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256836.3 0 0 0 79 429 0 172 1 2.486474e-02 2 0 0 172 2 1 1.000000 77 423 0 168 2 -20.000000 1 1 0 0 1 1 2 3 2.373236 1 0.470000 1.900000 0.552988 0.800000 6.300000e-01 1.000000 0.780000 0.823035 0.800000 0 0.710000 1.000000 NEU4 129807 broad.mit.edu 37 2 242757458 242757458 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:242757458G>A ENST00000391969.2 + 5 1250 c.539G>A c.(538-540)cGc>cAc p.R180H NEU4_ENST00000405370.1_Missense_Mutation_p.R180H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000325935.6_Missense_Mutation_p.R193H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H NM_001167602.1 NP_001161074.1 Q8WWR8 NEUR4_HUMAN sialidase 4 15 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) TACACCTACCGCGTGGACCGC 0.677000 0 SO:0001583 missense ENST00000391969.2 0 1 hg19 CCDS54442.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. G|G 5.676|5.676 0.309365|0.309365 0.10733|0.10733 .|. .|. ENSG00000204099|ENSG00000204099 ENST00000415936;ENST00000426032|ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288 T;T|D;D;D;D;D;D;D 0.36340|0.84516 1.26;1.27|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86 4.47|4.47 -3.37|-3.37 0.04898|0.04898 .|Neuraminidase (2); .|0.278834 .|0.39020 .|N .|0.001484 T|T 0.61160|0.61160 0.2325|0.2325 N|N 0.03209|0.03209 -0.39|-0.39 0.24176|0.24176 N|N 0.9956|0.9956 .|B;B;B .|0.11235 .|0.004;0.004;0.004 .|B;B;B .|0.11329 .|0.001;0.001;0.006 T|T 0.52909|0.52909 -0.8512|-0.8512 7|10 0.22706|0.11182 T|T 0.39|0.66 -5.5641|-5.5641 11.8952|11.8952 0.52652|0.52652 0.8204:0.0:0.1796:0.0|0.8204:0.0:0.1796:0.0 .|. .|192;192;180 .|A8K211;Q8WWR8-2;Q8WWR8 .|.;.;NEUR4_HUMAN T|H 95;107|180;180;190;180;192;180;193;180 ENSP00000397167:A95T;ENSP00000406678:A107T|ENSP00000385402:R180H;ENSP00000384804:R180H;ENSP00000397860:R180H;ENSP00000385149:R192H;ENSP00000375830:R180H;ENSP00000320318:R193H;ENSP00000388707:R180H ENSP00000397167:A95T|ENSP00000320318:R193H A|R +|+ 1|2 0|0 NEU4|NEU4 242406131|242406131 0.764000|0.764000 0.28473|0.28473 0.501000|0.501000 0.27601|0.27601 0.978000|0.978000 0.69477|0.69477 0.875000|0.875000 0.28079|0.28079 -0.569000|-0.569000 0.06030|0.06030 0.443000|0.443000 0.29094|0.29094 GCG|CGC TCGA-FB-AAPQ-01A-11D-A40W-08 NEU4-002 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257270.2 0 0 0 25 100 0 34 0 0 0 0 34 2 1 1.000000 25 96 0 34 2 -20.000000 1 1 0 0 1 1 2 3 2.425160 1 0.470000 1.900000 0.562526 0.990000 7.100000e-01 1.000000 1.000000 0.953724 0.990000 1 0.870000 1.000000 PROKR1 10887 broad.mit.edu 37 2 68882679 68882679 + Missense_Mutation SNP G G A rs139618486 TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr2:68882679G>A ENST00000303786.3 + 3 1573 c.1153G>A c.(1153-1155)Gaa>Aaa p.E385K PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K Q8TCW9 PKR1_HUMAN prokineticin receptor 1 35 GCCTGCCACCGAAGAGGTGGA 0.488000 0 SO:0001583 missense ENST00000303786.3 0 1 hg19 CCDS1889.1 . . . . . . . . . . G 18.96 3.734748 0.69189 0.0 1.16E-4 ENSG00000169618 ENST00000303786;ENST00000394342 T;T 0.72835 -0.69;-0.69 4.48 4.48 0.54585 . 0.000000 0.85682 D 0.000000 T 0.78874 0.4352 L 0.59436 1.845 0.58432 D 0.999999 D 0.89917 1.0 D 0.68765 0.96 T 0.72972 -0.4129 10 0.18276 T 0.48 . 15.4772 0.75493 0.0:0.0:1.0:0.0 . 385 Q8TCW9 PKR1_HUMAN K 385 ENSP00000303775:E385K;ENSP00000377874:E385K ENSP00000303775:E385K E + 1 0 PROKR1 68736183 1.000000 0.71417 0.963000 0.40424 0.364000 0.29643 8.626000 0.90969 2.779000 0.95612 0.655000 0.94253 GAA TCGA-FB-AAPQ-01A-11D-A40W-08 PROKR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251760.2 0 0 0 55 127 0 68 0 0 0 0 68 2 1 1.000000 54 125 0 68 2 -6.677265 1 1 0 0 1 1 2 3 2.061050 0 0.470000 1.900000 0.471243 0.990000 9.900000e-01 1.000000 1.000000 0.999178 0.990000 1 0.990000 1.000000 CPB1 1360 broad.mit.edu 37 3 148563359 148563359 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr3:148563359G>A ENST00000491148.1 + 10 1261 c.927G>A c.(925-927)atG>atA p.M309I CPB1_ENST00000282957.4_Missense_Mutation_p.M309I P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) ACTCCCAAATGATGATCTACC 0.423000 0 SO:0001583 missense ENST00000491148.1 0 1 hg19 CCDS33874.1 . . . . . . . . . . G 15.34 2.804211 0.50315 . . ENSG00000153002 ENST00000491148;ENST00000282957 T;T 0.10382 2.88;2.88 5.69 5.69 0.88448 Peptidase M14, carboxypeptidase A (4); 0.189388 0.56097 D 0.000025 T 0.22859 0.0552 M 0.67700 2.07 0.48696 D 0.999698 P 0.38992 0.653 P 0.47102 0.537 T 0.00180 -1.1949 10 0.87932 D 0 . 14.9509 0.71074 0.0702:0.0:0.9298:0.0 . 309 P15086 CBPB1_HUMAN I 309 ENSP00000417222:M309I;ENSP00000282957:M309I ENSP00000282957:M309I M + 3 0 CPB1 150046049 1.000000 0.71417 0.994000 0.49952 0.035000 0.12851 3.756000 0.55205 2.677000 0.91161 0.655000 0.94253 ATG TCGA-FB-AAPQ-01A-11D-A40W-08 CPB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355928.1 0 0 0 66 282 0 125 0 6.478914e-01 0 11 0 125 2 1 1.000000 66 276 0 123 2 -20.000000 1 1 0 0 1 0 0 0 2.048269 0 0.470000 1.900000 0.470000 0.800000 6.300000e-01 0.980000 0.800000 0.811151 0.800000 0 0.710000 0.900000 DOCK3 1795 broad.mit.edu 37 3 51418535 51418535 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr3:51418535G>A ENST00000266037.9 + 53 5661 c.5638G>A c.(5638-5640)Ggc>Agc p.G1880S NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 45 AGGTCTGGACGGCAGCAACTC 0.617000 0 SO:0001583 missense ENST00000266037.9 0 1 hg19 CCDS46835.1 . . . . . . . . . . G 28.0 4.883752 0.91814 . . ENSG00000088538 ENST00000266037 T 0.04119 3.7 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.12008 0.0292 N 0.21583 0.68 0.80722 D 1 D 0.89917 1.0 D 0.87578 0.998 T 0.40739 -0.9547 10 0.10111 T 0.7 . 20.8794 0.99867 0.0:0.0:1.0:0.0 . 1880 Q8IZD9 DOCK3_HUMAN S 1880 ENSP00000266037:G1880S ENSP00000266037:G1880S G + 1 0 DOCK3 51393575 1.000000 0.71417 0.994000 0.49952 0.963000 0.63663 9.221000 0.95188 2.941000 0.99782 0.655000 0.94253 GGC TCGA-FB-AAPQ-01A-11D-A40W-08 DOCK3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346478.5 0 0 0 124 290 1 183 0 0 0 1 183 2 1 1.000000 120 284 1 178 10 -9.121468 1 1 121374 1 34 1 0 1 1 1.578307 1 0.470000 1.900000 0.307190 0.930000 8.100000e-01 1.000000 0.970000 0.933179 0.930000 1 0.870000 0.980000 KIAA0922 23240 broad.mit.edu 37 4 154557660 154557660 + Missense_Mutation SNP A A C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr4:154557660A>C ENST00000409663.3 + 35 4814 c.4762A>C c.(4762-4764)Act>Cct p.T1588P KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 63 all_hematologic(180;0.093) Renal(120;0.118) GGACATATGGACTACCACAGC 0.443000 0 SO:0001583 missense ENST00000409663.3 0 1 hg19 CCDS3783.2 . . . . . . . . . . A 26.5 4.745420 0.89663 . . ENSG00000121210 ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487 T;T;T;T 0.23147 2.22;1.92;2.22;1.93 5.93 5.93 0.95920 . 0.053443 0.85682 D 0.000000 T 0.38054 0.1026 N 0.19112 0.55 0.58432 D 0.999999 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.998;0.996 T 0.33111 -0.9881 10 0.72032 D 0.01 -21.6398 16.3721 0.83368 1.0:0.0:0.0:0.0 . 1505;1589;1588 A2VDJ0-3;A2VDJ0-5;A2VDJ0 .;.;T131L_HUMAN P 1588;1505;1589;1366 ENSP00000386574:T1588P;ENSP00000409663:T1505P;ENSP00000386787:T1589P;ENSP00000240487:T1366P ENSP00000240487:T1366P T + 1 0 KIAA0922 154777110 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 8.620000 0.90943 2.257000 0.74773 0.533000 0.62120 ACT TCGA-FB-AAPQ-01A-11D-A40W-08 KIAA0922-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000330370.1 0 0 0 18 370 0 150 0 6.989887e-02 0 9 0 150 2 1 0.999983 18 369 0 149 2 -18.961690 1 1 0 0 1 1 2 3 2.051090 0 0.470000 1.900000 0.471243 0.190000 1.100000e-01 0.310000 0.200000 0.207198 0.190000 0 0.150000 0.250000 CCDC69 26112 broad.mit.edu 37 5 150584969 150584969 + Missense_Mutation SNP C C G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr5:150584969C>G ENST00000355417.2 - 2 290 c.116G>C c.(115-117)gGg>gCg p.G39A CCDC69_ENST00000521308.1_Intron NM_015621.2 NP_056436.2 A6NI79 CCD69_HUMAN coiled-coil domain containing 69 9 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTGTGTCCCCATTGAGGGG 0.517000 0 SO:0001583 missense ENST00000355417.2 0 1 hg19 CCDS4312.1 . . . . . . . . . . C 16.48 3.135710 0.56828 . . ENSG00000198624 ENST00000355417 T 0.22134 1.97 4.32 -1.51 0.08664 . 1.518870 0.03672 N 0.244161 T 0.13586 0.0329 L 0.27053 0.805 0.09310 N 1 B 0.21606 0.058 B 0.22601 0.04 T 0.26155 -1.0111 10 0.07990 T 0.79 -0.9078 7.9535 0.30029 0.0:0.3237:0.0:0.6763 . 39 A6NI79 CCD69_HUMAN A 39 ENSP00000347586:G39A ENSP00000347586:G39A G - 2 0 CCDC69 150565162 0.002000 0.14202 0.007000 0.13788 0.986000 0.74619 -0.301000 0.08232 -0.179000 0.10654 0.555000 0.69702 GGG TCGA-FB-AAPQ-01A-11D-A40W-08 CCDC69-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252435.1 0 0 0 52 176 0 30 0 2.286236e-01 0 4 0 30 2 1 1.000000 51 172 0 29 2 -3.128305 1 1 0 0 1 1 2 3 2.064620 0 0.470000 1.900000 0.472479 0.970000 7.500000e-01 1.000000 1.000000 0.942781 0.970000 1 0.850000 1.000000 TNXB 7148 broad.mit.edu 37 6 32046935 32046935 + Missense_Mutation SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr6:32046935C>T ENST00000375244.3 - 11 4451 c.4250G>A c.(4249-4251)cGt>cAt p.R1417H TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA P22105 TENX_HUMAN tenascin XB 8 GCCCCCAACACGCACCGCCCG 0.662000 0 SO:0001583 missense ENST00000375244.3 0 1 hg19 . . . . . . . . . . C 13.46 2.244413 0.39697 . . ENSG00000168477 ENST00000375244;ENST00000375247 T;T 0.57752 0.38;0.38 5.52 4.64 0.57946 . 0.000000 0.41396 D 0.000889 T 0.34978 0.0916 M 0.67397 2.05 0.29740 N 0.837148 P 0.50617 0.937 P 0.47645 0.553 T 0.22382 -1.0218 10 0.13108 T 0.6 . 9.6088 0.39650 0.1602:0.6853:0.1545:0.0 . 1417 P22105-3 . H 1417 ENSP00000364393:R1417H;ENSP00000364396:R1417H ENSP00000364393:R1417H R - 2 0 TNXB 32154913 0.459000 0.25768 0.972000 0.41901 0.048000 0.14542 0.667000 0.25112 1.459000 0.47892 0.591000 0.81541 CGT TCGA-FB-AAPQ-01A-11D-A40W-08 TNXB-001 PUTATIVE not_organism_supported|basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000268927.2 0 0 0 116 422 0 217 0 0 0 1 0 217 2 1 1.000000 115 417 0 217 2 -20.000000 1 1 120852 1 31 1 0 0 0 2.010714 0 0.470000 1.900000 0.459845 0.890000 7.500000e-01 1.000000 1.000000 0.899085 0.890000 1 0.820000 0.970000 RINT1 60561 broad.mit.edu 37 7 105204334 105204334 + Missense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr7:105204334G>A ENST00000257700.2 + 12 2057 c.1826G>A c.(1825-1827)cGt>cAt p.R609H NM_021930.4 NP_068749.3 Q6NUQ1 RINT1_HUMAN RAD50 interactor 1 22 ATGTTGACCCGTCAAGTAGAC 0.388000 0 SO:0001583 missense ENST00000257700.2 0 1 hg19 CCDS34726.1 . . . . . . . . . . G 34 5.392489 0.96009 . . ENSG00000135249 ENST00000257700 T 0.30981 1.51 6.17 6.17 0.99709 . 0.000000 0.85682 D 0.000000 T 0.54806 0.1881 L 0.56769 1.78 0.80722 D 1 D 0.76494 0.999 D 0.71414 0.973 T 0.42032 -0.9475 10 0.48119 T 0.1 -16.4485 20.8794 0.99867 0.0:0.0:1.0:0.0 . 609 Q6NUQ1 RINT1_HUMAN H 609 ENSP00000257700:R609H ENSP00000257700:R609H R + 2 0 RINT1 104991570 1.000000 0.71417 1.000000 0.80357 0.993000 0.82548 7.142000 0.77339 2.941000 0.99782 0.655000 0.94253 CGT TCGA-FB-AAPQ-01A-11D-A40W-08 RINT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000348686.1 0 0 0 73 212 1 107 1 9.764036e-01 7 13 1 107 2 1 1.000000 73 210 1 107 11 -5.167447 1 1 121412 1 28 1 1 2 3 2.075402 0 0.470000 1.900000 0.472479 0.990000 8.800000e-01 1.000000 1.000000 0.989465 0.990000 1 0.980000 1.000000 PODXL 5420 broad.mit.edu 37 7 131196176 131196176 + Silent SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr7:131196176C>T ENST00000378555.3 - 2 364 c.117G>A c.(115-117)acG>acA p.T39T PODXL_ENST00000322985.9_Silent_p.T39T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000541194.1_Silent_p.T41T O00592 PODXL_HUMAN podocalyxin-like 24 Melanoma(18;0.162) TAGATGAGTCCGTAGTAGTCT 0.527000 0 SO:0001819 synonymous_variant ENST00000378555.3 0 1 hg19 CCDS34755.1 TCGA-FB-AAPQ-01A-11D-A40W-08 PODXL-005 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000337627.2 0 0 0 52 219 0 113 0 2.501450e-01 1 4 0 113 2 1 1.000000 50 215 0 109 2 -2.474241 0 1 0 0 1 1 2 3 2.075402 0 0.470000 1.900000 0.472479 0.810000 6.300000e-01 1.000000 1.000000 0.825963 0.810000 0 0.720000 0.930000 POU6F2 11281 broad.mit.edu 37 7 39379547 39379547 + Missense_Mutation SNP C C T rs144939808 TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr7:39379547C>T ENST00000403058.1 + 6 972 c.818C>T c.(817-819)cCg>cTg p.P273L POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L NM_001166018.1|NM_007252.3 NP_001159490.1|NP_009183.3 P78424 PO6F2_HUMAN POU class 6 homeobox 2 42 tccagccccCCGCAGAAACCT 0.627000 0 SO:0001583 missense ENST00000403058.1 0 1 hg19 CCDS34620.2 . . . . . . . . . . C 15.07 2.722810 0.48728 0.0 3.49E-4 ENSG00000106536 ENST00000403058;ENST00000518318 T;D 0.85702 0.99;-2.02 4.66 3.76 0.43208 . 2586.510000 0.00166 N 0.000001 D 0.86016 0.5832 L 0.55481 1.735 0.46678 D 0.999155 P;P 0.45011 0.848;0.725 B;B 0.41619 0.361;0.074 T 0.71580 -0.4550 10 0.49607 T 0.09 . 13.9533 0.64131 0.1534:0.8466:0.0:0.0 . 273;273 P78424-2;P78424 .;PO6F2_HUMAN L 273 ENSP00000384004:P273L;ENSP00000430514:P273L ENSP00000384004:P273L P + 2 0 POU6F2 39346072 1.000000 0.71417 0.992000 0.48379 0.949000 0.60115 5.936000 0.70153 0.916000 0.36871 0.557000 0.71058 CCG TCGA-FB-AAPQ-01A-11D-A40W-08 POU6F2-002 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000320146.3 0 0 0 43 186 0 65 0 0 0 1 0 65 2 1 1.000000 42 181 0 63 2 -2.653406 1 1 121412 58 49 1 1 2 3 2.075402 0 0.470000 1.900000 0.472479 0.800000 6.000000e-01 1.000000 1.000000 0.809811 0.800000 0 0.690000 0.920000 SYBU 55638 broad.mit.edu 37 8 110588134 110588134 + Silent SNP C C T TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr8:110588134C>T ENST00000422135.1 - 8 1508 c.993G>A c.(991-993)agG>agA p.R331R SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000408908.2_Silent_p.R331R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000399066.3_Silent_p.R328R|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000533065.1_Silent_p.R212R NM_001099744.1 NP_001093214.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 30 TAATCTCTTTCCTGGCTTCTT 0.488000 0 SO:0001819 synonymous_variant ENST00000422135.1 0 1 hg19 CCDS47912.1 TCGA-FB-AAPQ-01A-11D-A40W-08 SYBU-204 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000385501.1 0 0 0 18 405 1 179 0 6.008649e-02 0 9 1 179 2 1 0.999981 17 400 0 178 2 -3.277863 1 1 0 0 1 1 2 3 2.064278 0 0.470000 1.900000 0.472479 0.180000 1.000000e-01 0.290000 0.180000 0.198557 0.180000 0 0.140000 0.240000 ANK1 286 broad.mit.edu 37 8 41563703 41563703 + Silent SNP A A G TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr8:41563703A>G ENST00000347528.4 - 18 2138 c.2055T>C c.(2053-2055)gaT>gaC p.D685D ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000396942.1_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D NM_020475.2|NM_020476.2|NM_020477.2 NP_065208.2|NP_065209.2|NP_065210.2 P16157 ANK1_HUMAN ankyrin 1, erythrocytic 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGATCAGCACATCTGCCACTG 0.522000 0 SO:0001819 synonymous_variant ENST00000347528.4 0 1 hg19 CCDS6119.1 TCGA-FB-AAPQ-01A-11D-A40W-08 ANK1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000317297.1 0 0 0 66 190 0 113 0 6.818114e-02 1 1 0 113 2 1 1.000000 64 187 1 112 10 -5.280714 1 1 0 0 1 1 2 3 2.064278 0 0.470000 1.900000 0.472479 0.990000 8.800000e-01 1.000000 1.000000 0.989248 0.990000 1 0.980000 1.000000 FAM129B 64855 broad.mit.edu 37 9 130272530 130272530 + Silent SNP G G C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 G C G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chr9:130272530G>C ENST00000373312.3 - 9 1269 c.1056C>G c.(1054-1056)gtC>gtG p.V352V FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.V339V NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 25 GGCTGGTGGGGACCATCAGGG 0.607000 0 SO:0001819 synonymous_variant ENST00000373312.3 0 1 hg19 CCDS35145.1 TCGA-FB-AAPQ-01A-11D-A40W-08 FAM129B-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000054196.1 0 0 0 93 401 0 162 1 1 117 152 0 162 2 1 1.000000 92 393 0 160 2 -20.000000 1 1 0 0 1 1 2 3 2.080301 0 0.470000 1.900000 0.474936 0.800000 6.600000e-01 1.000000 0.810000 0.817380 0.800000 0 0.730000 0.900000 ELK1 2002 broad.mit.edu 37 X 47500789 47500789 + Nonsense_Mutation SNP G G A TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 99ad1f02-6c55-4c69-863d-6b47298b0c43 29a5cf73-0904-450f-ac74-6b46dfb2e4f4 g.chrX:47500789G>A ENST00000247161.3 - 2 151 c.52C>T c.(52-54)Caa>Taa p.Q18* ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18* NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 10 CCATTGCCTTGCTCTCTCAGC 0.597000 0 SO:0001587 stop_gained ENST00000247161.3 0 1 hg19 CCDS14283.1 . . . . . . . . . . G 35 5.415103 0.96092 . . ENSG00000126767 ENST00000247161;ENST00000376983;ENST00000343894 . . . 4.89 4.89 0.63831 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.05833 T 0.94 . 14.323 0.66499 0.0:0.0:1.0:0.0 . . . . X 18 . ENSP00000247161:Q18X Q - 1 0 ELK1 47385733 1.000000 0.71417 1.000000 0.80357 0.984000 0.73092 6.239000 0.72356 2.255000 0.74692 0.506000 0.49869 CAA TCGA-FB-AAPQ-01A-11D-A40W-08 ELK1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056436.1 0 0 0 51 37 0 30 1 9.999995e-01 13 12 0 30 2 1 1.000000 50 37 0 30 2 -20.000000 1 1 0 0 1 0 1 1 0.470000 1.900000 0.470000 0.960000 8.500000e-01 1.000000 0.990000 0.961917 0.960000 1 0.920000 1.000000