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 7578373 7578373 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 T - T T Valid Somatic Phase_I WXS targeted Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:7578373delT ENST00000269305.4 - 5 746 c.557delA c.(556-558)gatfs p.D186fs TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs 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.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CTGCTCACCATCGCTATCTGA 0.642000 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 17 Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2) 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 1 1 hg19 CCDS11118.1 TCGA-US-A779-01A-11D-A32N-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 101 224 0 53 1 9.907415e-01 2 17 0 53 2 1 1 166 425 0 611 2 1 1.000000 100 223 0 53 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 1.673999 1 0.570000 1.860000 0.398601 0.770000 6.500000e-01 0.900000 0.780000 0.778834 0.770000 0 7.000000e-01 0.840000 RET 5979 broad.mit.edu 37 10 43622039 43622039 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:43622039C>T ENST00000355710.3 + 19 3288 c.3056C>T c.(3055-3057)gCg>gTg p.A1019V RET_ENST00000340058.5_Missense_Mutation_p.A1019V NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene CCDC6/RET(4)|KIF5B/RET(79) 607 Ovarian(717;0.0423) Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398) TTGGACCTTGCGGCGTCCACT 0.557000 1 T, Mis, N, F H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6 medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC medullary thyroid, papillary thyroid, pheochromocytoma Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149) yes Dom yes Multiple endocrine neoplasia 2A/2B 10 10q11.2 5979 ret proto-oncogene yes E, O 0 SO:0001583 missense Familial Cancer Database MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC ENST00000355710.3 0 1 hg19 CCDS7200.1 . . . . . . . . . . C 20.6 4.010130 0.75046 . . ENSG00000165731 ENST00000355710;ENST00000340058 T;T 0.80304 -1.24;-1.36 5.09 5.09 0.68999 . 0.000000 0.85682 D 0.000000 D 0.83922 0.5359 N 0.24115 0.695 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.997;0.998;0.999 D 0.85682 0.1301 10 0.52906 T 0.07 . 18.5126 0.90923 0.0:1.0:0.0:0.0 . 765;1019;1019 B4DGX8;P07949;P07949-2 .;RET_HUMAN;. V 1019 ENSP00000347942:A1019V;ENSP00000344798:A1019V ENSP00000344798:A1019V A + 2 0 RET 42942045 1.000000 0.71417 0.735000 0.30896 0.550000 0.35303 7.786000 0.85741 2.374000 0.81015 0.655000 0.94253 GCG TCGA-US-A779-01A-11D-A32N-08 RET-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047694.2 0 0 0 7 1199 0 250 0 4.929913e-05 0 2 0 250 2 0 0 0 0 0 2 1 0.979447 7 1179 0 248 2 0 0 0 0 250 2 -1.898043 0 1 0 0 1 0 0 0 2.036303 0 0.570000 1.860000 0.559967 0.010000 0 0.040000 0.020000 0.021732 0.010000 0 0 0.030000 PRDM11 56981 broad.mit.edu 37 11 45246062 45246062 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:45246062C>A ENST00000530656.1 + 7 1139 c.1139C>A c.(1138-1140)gCa>gAa p.A380E CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E Q9NQV5 PRD11_HUMAN PR domain containing 11 26 AGTCAGTGTGCAACAACAATG 0.582000 NSCLC(118;1511 1736 6472 36603 43224) 0 SO:0001583 missense ENST00000530656.1 0 1 hg19 . . . . . . . . . . C 3.853 -0.031534 0.07543 . . ENSG00000019485 ENST00000263765;ENST00000530656;ENST00000424263 T;T;T 0.23950 1.88;1.88;1.9 5.41 2.37 0.29283 . 0.371038 0.22974 N 0.053384 T 0.12220 0.0297 N 0.14661 0.345 0.09310 N 1 P 0.41848 0.763 B 0.39840 0.311 T 0.10965 -1.0607 10 0.25751 T 0.34 -4.2871 4.8943 0.13742 0.1119:0.3303:0.4654:0.0924 . 380 Q9NQV5 PRD11_HUMAN E 380;380;346 ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E ENSP00000263765:A380E A + 2 0 PRDM11 45202638 0.994000 0.37717 0.003000 0.11579 0.009000 0.06853 3.098000 0.50259 0.656000 0.30886 -0.259000 0.10710 GCA TCGA-US-A779-01A-11D-A32N-08 PRDM11-001 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000389928.1 0 0 0 6 659 0 138 0 1.253099e-04 0 2 0 138 2 0 0 0 0 0 2 1 0.964596 7 655 0 138 2 0 0 0 0 138 2 -2.836805 1 1 0 0 1 0 0 0 2.087902 0 0.570000 1.860000 0.570000 0.030000 0 0.070000 0.040000 0.036200 0.030000 0 1.000000e-02 0.050000 TSGA10IP 254187 broad.mit.edu 37 11 65714436 65714436 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:65714436G>A ENST00000532620.1 + 0 464 TSGA10IP_ENST00000608857.1_RNA Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 14 AAGAAGGACCGCAAGCCCAGG 0.597000 0 ENST00000532620.1 0 1 hg19 TCGA-US-A779-01A-11D-A32N-08 TSGA10IP-001 KNOWN basic processed_transcript polymorphic_pseudogene OTTHUMT00000391373.2 0 0 0 4 251 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 0.888294 4 248 0 62 2 0 0 0 0 62 2 -3.063790 1 1 0 0 1 0 0 0 2.087902 0 0.570000 1.860000 0.570000 0.050000 1.000000e-02 0.130000 0.060000 0.067967 0.050000 0 3.000000e-02 0.100000 DPP3 10072 broad.mit.edu 37 11 66260292 66260292 + Missense_Mutation SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:66260292A>T ENST00000360510.2 + 10 1159 c.1094A>T c.(1093-1095)aAg>aTg p.K365M DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000532677.1_Missense_Mutation_p.K384M|DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 23 ACCTTTGAGAAGGACAAGTTC 0.597000 0 SO:0001583 missense ENST00000360510.2 0 1 hg19 CCDS8141.1 . . . . . . . . . . A 27.3 4.816240 0.90790 . . ENSG00000254986 ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807 T;T;T;T;T;T 0.27402 1.67;1.67;1.67;1.67;1.67;1.67 5.41 5.41 0.78517 . 0.094343 0.64402 D 0.000001 T 0.62060 0.2397 M 0.90082 3.085 0.58432 D 0.999999 D;D 0.89917 1.0;1.0 D;D 0.79784 0.993;0.993 T 0.70733 -0.4791 10 0.87932 D 0 . 13.4157 0.60968 1.0:0.0:0.0:0.0 . 384;365 G3V1D3;Q9NY33 .;DPP3_HUMAN M 385;384;365;365;365;335;263 ENSP00000432782:K385M;ENSP00000435284:K384M;ENSP00000353701:K365M;ENSP00000389943:K365M;ENSP00000440502:K365M;ENSP00000436941:K335M ENSP00000353701:K365M K + 2 0 DPP3 66016868 1.000000 0.71417 1.000000 0.80357 0.952000 0.60782 8.519000 0.90563 2.052000 0.61016 0.533000 0.62120 AAG TCGA-US-A779-01A-11D-A32N-08 DPP3-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000393424.2 0 0 0 6 569 0 131 0 4.775254e-01 0 137 0 131 2 0 0 0 0 0 2 1 0.962365 2 559 0 130 2 0 0 0 0 131 2 -5.235396 1 0 0 0 1 0 0 0 2.087902 0 0.570000 1.860000 0.570000 0.030000 0 0.080000 0.040000 0.042279 0.030000 0 1.000000e-02 0.060000 EPS8L2 64787 broad.mit.edu 37 11 722431 722431 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:722431G>A ENST00000533256.1 + 14 1465 c.1090G>A c.(1090-1092)Gca>Aca p.A364T AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T Q9H6S3 ES8L2_HUMAN EPS8-like 2 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) CCCAGACATCGCACGCTCCGT 0.647000 0 SO:0001583 missense ENST00000533256.1 0 1 hg19 CCDS31328.1 . . . . . . . . . . g 12.62 1.992138 0.35131 . . ENSG00000177106 ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198 T;T;T;T 0.61158 0.13;0.13;0.13;0.13 3.13 2.2 0.27929 . 0.089102 0.43919 U 0.000514 T 0.67896 0.2942 M 0.69823 2.125 0.09310 N 1 D;D 0.89917 0.999;1.0 P;P 0.61275 0.886;0.87 T 0.59225 -0.7494 10 0.87932 D 0 -11.1368 9.2022 0.37265 0.1144:0.0:0.8856:0.0 . 380;364 B7ZKL3;Q9H6S3 .;ES8L2_HUMAN T 364;364;364;380 ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T ENSP00000320828:A364T A + 1 0 EPS8L2 712431 0.964000 0.33143 0.005000 0.12908 0.689000 0.40095 3.519000 0.53458 0.664000 0.31047 0.486000 0.48141 GCA TCGA-US-A779-01A-11D-A32N-08 EPS8L2-003 KNOWN alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000382344.1 0 0 0 5 260 0 51 0 9.708496e-01 0 345 0 51 2 0 0 0 0 0 2 1 0.933638 5 253 0 50 2 0 0 0 0 51 2 -3.939549 1 1 121404 4 35 1 0 1 1 2.073679 0 0.570000 1.860000 0.568771 0.060000 2.000000e-02 0.150000 0.060000 0.078401 0.060000 0 4.000000e-02 0.110000 FAT3 120114 broad.mit.edu 37 11 92599977 92599977 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:92599977G>A ENST00000298047.6 + 21 11746 c.11729G>A c.(11728-11730)cGt>cAt p.R3910H FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 p.R3910L(2)|p.R485L(1) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCTCGGGCCGTGCTGTCAAC 0.627000 TCGA Ovarian(4;0.039) 3 Substitution - Missense(3) SO:0001583 missense ENST00000298047.6 1 1 hg19 . . . . . . . . . . G 15.94 2.980435 0.53827 . . ENSG00000165323 ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797 T;T;T;T 0.78126 -1.15;-1.15;-1.15;-1.15 5.77 5.77 0.91146 Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1); . . . . T 0.72755 0.3500 L 0.61387 1.9 0.80722 D 1 P;B 0.39831 0.69;0.039 B;B 0.30495 0.116;0.023 T 0.71407 -0.4602 9 0.15499 T 0.54 . 19.9934 0.97376 0.0:0.0:1.0:0.0 . 3910;3910 Q8TDW7-3;Q8TDW7 .;FAT3_HUMAN H 3910;3910;3760;245 ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H ENSP00000298047:R3910H R + 2 0 FAT3 92239625 1.000000 0.71417 0.964000 0.40570 0.724000 0.41520 6.323000 0.72891 2.732000 0.93576 0.561000 0.74099 CGT TCGA-US-A779-01A-11D-A32N-08 FAT3-201 KNOWN basic protein_coding protein_coding 1 0 1 45 131 0 40 0 0 0 0 40 2 0 0 0 0 0 2 1 1.000000 45 131 0 39 2 0 0 0 0 40 2 -20.000000 1 1 120954 1 28 1 0 0 0 2.087902 0 0.570000 1.860000 0.570000 0.890000 6.800000e-01 1.000000 1.000000 0.889529 0.890000 1 7.800000e-01 1.000000 CNTN5 53942 broad.mit.edu 37 11 99872865 99872865 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:99872865G>A ENST00000524871.1 + 9 1267 c.977G>A c.(976-978)gGc>gAc p.G326D CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) TTTGCACTTGGCAAGTAAGTA 0.358000 0 SO:0001583 missense ENST00000524871.1 0 1 hg19 CCDS53696.1 . . . . . . . . . . G 27.9 4.872029 0.91587 . . ENSG00000149972 ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463 T;T;T;T;T 0.79554 -1.28;-1.28;-1.28;-1.28;-1.28 5.68 5.68 0.88126 Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); 0.000000 0.85682 D 0.000000 D 0.94479 0.8223 H 0.98738 4.315 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 1.0;1.0;1.0 D 0.96454 0.9336 10 0.87932 D 0 . 18.779 0.91924 0.0:0.0:1.0:0.0 . 326;252;326 E9PKE8;O94779-2;O94779 .;.;CNTN5_HUMAN D 326;326;326;252;326 ENSP00000433575:G326D;ENSP00000436185:G326D;ENSP00000435637:G326D;ENSP00000393229:G252D;ENSP00000279463:G326D ENSP00000279463:G326D G + 2 0 CNTN5 99378075 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 9.476000 0.97823 2.682000 0.91365 0.591000 0.81541 GGC TCGA-US-A779-01A-11D-A32N-08 CNTN5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000395148.2 0 0 0 3 40 0 8 0 0 0 0 8 2 0 0 0 0 0 2 1 0.812630 3 40 0 8 2 0 0 0 0 8 2 -7.630658 1 1 0 0 1 0 0 0 2.087902 0 0.570000 1.860000 0.570000 0.270000 8.000000e-02 0.610000 0.240000 0.306508 0.270000 0 1.500000e-01 0.440000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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-US-A779-01A-11D-A32N-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 25 73 0 19 1 7.642343e-01 5 5 0 19 2 1 1 57 193 0 322 2 1 1.000000 25 73 0 19 2 1 1 2553 5479 0 19 2 -19.758050 1 1 121404 2 44 1 0 0 0 2.018561 0 0.570000 1.860000 0.554773 0.860000 5.900000e-01 1.000000 1.000000 0.856843 0.860000 1 7.200000e-01 1.000000 METTL7A 25840 broad.mit.edu 37 12 51319018 51319018 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:51319018C>T ENST00000548553.1 + 2 1178 c.197C>T c.(196-198)gCg>gTg p.A66V METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V Q9H8H3 MET7A_HUMAN methyltransferase like 7A p.A66V(1) 10 CAGGAGTTTGCGGGCCCCTCC 0.552000 1 Substitution - Missense(1) SO:0001583 missense ENST00000548553.1 0 1 hg19 CCDS8804.1 . . . . . . . . . . C 10.75 1.439444 0.25900 . . ENSG00000185432 ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599 T;T;T 0.16597 2.33;2.33;2.33 5.0 -1.08 0.09936 . 0.852961 0.10781 N 0.634907 T 0.09598 0.0236 L 0.34521 1.04 0.09310 N 1 B;B 0.16802 0.017;0.019 B;B 0.12837 0.003;0.008 T 0.38993 -0.9635 10 0.20519 T 0.43 -1.5348 2.5233 0.04685 0.1123:0.4458:0.1094:0.3324 . 66;66 B4DDW1;Q9H8H3 .;MET7A_HUMAN V 66 ENSP00000448785:A66V;ENSP00000450239:A66V;ENSP00000331787:A66V ENSP00000331787:A66V A + 2 0 METTL7A 49605285 0.000000 0.05858 0.000000 0.03702 0.544000 0.35116 0.002000 0.13061 -0.304000 0.08843 -0.140000 0.14226 GCG TCGA-US-A779-01A-11D-A32N-08 METTL7A-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404294.2 0 0 0 4 250 0 50 0 5.965211e-01 1 112 0 50 2 0 0 0 0 0 2 1 0.887331 4 246 0 50 2 0 0 0 0 50 2 -2.811091 1 1 0 0 1 0 0 0 2.018561 0 0.570000 1.860000 0.554773 0.050000 1.000000e-02 0.130000 0.060000 0.065929 0.050000 0 3.000000e-02 0.090000 LRRC10 376132 broad.mit.edu 37 12 70003865 70003865 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:70003865C>T ENST00000361484.3 - 1 1077 c.754G>A c.(754-756)Gcc>Acc p.A252T NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TAGCGCCTGGCTTTTCTAGGG 0.582000 0 SO:0001583 missense ENST00000361484.3 1 1 hg19 CCDS31856.1 . . . . . . . . . . C 11.31 1.599545 0.28534 . . ENSG00000198812 ENST00000361484 T 0.58060 0.36 5.63 2.59 0.31030 . 0.485815 0.21421 N 0.074802 T 0.30135 0.0755 N 0.16478 0.41 0.27690 N 0.94614 B 0.06786 0.001 B 0.04013 0.001 T 0.14227 -1.0480 10 0.17832 T 0.49 . 7.034 0.24983 0.0:0.5914:0.1946:0.214 . 252 Q5BKY1 LRC10_HUMAN T 252 ENSP00000355166:A252T ENSP00000355166:A252T A - 1 0 LRRC10 68290132 0.993000 0.37304 0.998000 0.56505 0.930000 0.56654 1.083000 0.30815 0.823000 0.34589 0.561000 0.74099 GCC TCGA-US-A779-01A-11D-A32N-08 LRRC10-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403834.1 1 0 1 95 298 0 88 0 0 0 0 88 2 0 0 0 0 0 2 1 1.000000 95 294 0 88 2 0 0 0 0 88 2 -20.000000 1 1 0 0 1 0 0 0 2.003645 0 0.570000 1.860000 0.552130 0.800000 6.700000e-01 0.950000 0.810000 0.816851 0.800000 0 7.300000e-01 0.890000 GPR18 2841 broad.mit.edu 37 13 99907388 99907388 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr13:99907388G>A ENST00000340807.3 - 3 1295 c.739C>T c.(739-741)Ccc>Tcc p.P247S GPR18_ENST00000397470.2_Missense_Mutation_p.P247S|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) ATGTGGAAGGGCATAAAGCAG 0.527000 0 SO:0001583 missense ENST00000340807.3 0 1 hg19 CCDS9491.1 . . . . . . . . . . G 26.3 4.722418 0.89298 . . ENSG00000125245 ENST00000397473;ENST00000397470;ENST00000340807 T;T;T 0.80304 -1.36;-1.36;-1.36 5.88 5.88 0.94601 GPCR, rhodopsin-like superfamily (1); 0.000000 0.85682 D 0.000000 D 0.92143 0.7509 M 0.90759 3.145 0.80722 D 1 D 0.89917 1.0 D 0.91635 0.999 D 0.92507 0.6013 9 . . . -21.4099 20.2187 0.98312 0.0:0.0:1.0:0.0 . 247 Q14330 GPR18_HUMAN S 247 ENSP00000380613:P247S;ENSP00000380610:P247S;ENSP00000343428:P247S . P - 1 0 GPR18 98705389 1.000000 0.71417 0.904000 0.35570 0.964000 0.63967 9.476000 0.97823 2.780000 0.95670 0.655000 0.94253 CCC TCGA-US-A779-01A-11D-A32N-08 GPR18-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000045585.1 0 0 0 5 421 0 105 0 0 0 1 0 105 2 0 0 0 0 0 2 1 0.937114 5 419 0 105 2 0 0 0 0 105 2 -2.144067 0 1 0 0 1 1 2 3 2.107508 0 0.570000 1.860000 0.572437 0.040000 0 0.100000 0.040000 0.058526 0.040000 0 2.000000e-02 0.070000 NYNRIN 57523 broad.mit.edu 37 14 24877207 24877207 + Missense_Mutation SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:24877207G>T ENST00000382554.3 + 3 649 c.331G>T c.(331-333)Gtg>Ttg p.V111L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 56 TGCCTACCTGGTGCCTGGCCC 0.642000 0 SO:0001583 missense ENST00000382554.3 1 1 hg19 CCDS45090.1 . . . . . . . . . . G 17.38 3.375905 0.61735 . . ENSG00000205978 ENST00000382554 T 0.12255 2.7 4.82 4.82 0.62117 . 0.830019 0.09626 N 0.776903 T 0.18130 0.0435 M 0.65975 2.015 0.24216 N 0.995458 B 0.21520 0.057 B 0.17979 0.02 T 0.08638 -1.0712 10 0.87932 D 0 . 8.9155 0.35579 0.0986:0.0:0.9014:0.0 . 111 Q9P2P1 NYNRI_HUMAN L 111 ENSP00000371994:V111L ENSP00000371994:V111L V + 1 0 NYNRIN 23947047 1.000000 0.71417 1.000000 0.80357 0.965000 0.64279 3.690000 0.54713 2.503000 0.84419 0.655000 0.94253 GTG TCGA-US-A779-01A-11D-A32N-08 NYNRIN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000412939.1 1 0 1 138 342 0 105 1 5.533697e-01 4 2 0 105 2 0 0 0 0 0 2 1 1.000000 138 340 0 105 2 0 0 0 0 105 2 -20.000000 1 1 0 0 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.990000 8.600000e-01 1.000000 1.000000 0.973416 0.990000 1 9.200000e-01 1.000000 ADAM20 8748 broad.mit.edu 37 14 70991279 70991279 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:70991279G>A ENST00000256389.3 - 2 590 c.346C>T c.(346-348)Cgg>Tgg p.R116W RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) CCCCCAAACCGCAGGCTATAG 0.527000 0 SO:0001583 missense ENST00000256389.3 0 1 hg19 CCDS32111.1 . . . . . . . . . . G 2.877 -0.232779 0.05983 . . ENSG00000134007 ENST00000256389 T 0.07216 3.21 4.14 -1.25 0.09405 Peptidase M12B, propeptide (1); 0.844512 0.09575 U 0.783660 T 0.07369 0.0186 L 0.54323 1.7 0.09310 N 1 B 0.26602 0.154 B 0.24269 0.052 T 0.40794 -0.9544 10 0.59425 D 0.04 . 1.3442 0.02160 0.2309:0.1227:0.4097:0.2367 . 66 O43506 ADA20_HUMAN W 116 ENSP00000256389:R116W ENSP00000256389:R116W R - 1 2 ADAM20 70061032 0.000000 0.05858 0.000000 0.03702 0.048000 0.14542 -0.996000 0.03709 -0.123000 0.11745 0.650000 0.86243 CGG TCGA-US-A779-01A-11D-A32N-08 ADAM20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000395004.2 0 0 0 5 354 0 75 0 0 0 0 75 2 0 0 0 0 0 2 1 0.934678 6 346 0 74 2 0 0 0 0 75 2 -2.594234 1 1 121402 7 41 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.040000 1.000000e-02 0.110000 0.050000 0.057814 0.040000 0 2.000000e-02 0.080000 LTBP2 4053 broad.mit.edu 37 14 74969572 74969572 + Missense_Mutation SNP G G A rs142182623 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:74969572G>A ENST00000261978.4 - 34 5340 c.4954C>T c.(4954-4956)Cgg>Tgg p.R1652W LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 58 TAGCCTGGCCGGAAGTGGACC 0.632000 0 SO:0001583 missense ENST00000261978.4 0 1 hg19 CCDS9831.1 2 9.157509157509158E-4 1 0.0020325203252032522 0 0.0 0 0.0 1 0.0013192612137203166 G 21.4 4.148204 0.78001 4.54E-4 0.0 ENSG00000119681 ENST00000261978;ENST00000556690 T;T 0.79141 -1.24;-1.24 5.04 5.04 0.67666 . 0.000000 0.38217 N 0.001768 T 0.81039 0.4740 L 0.32530 0.975 0.38329 D 0.943745 D 0.89917 1.0 D 0.91635 0.999 T 0.83233 -0.0062 10 0.66056 D 0.02 . 11.1565 0.48491 0.0:0.0:0.7663:0.2337 . 1652 Q14767 LTBP2_HUMAN W 1652;1608 ENSP00000261978:R1652W;ENSP00000451477:R1608W ENSP00000261978:R1652W R - 1 2 LTBP2 74039325 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 4.443000 0.59994 2.610000 0.88304 0.561000 0.74099 CGG TCGA-US-A779-01A-11D-A32N-08 LTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413595.1 0 0 0 5 464 0 98 0 4.403375e-02 0 25 0 98 2 0 0 0 0 0 2 1 0.936438 6 459 0 97 2 0 0 0 0 98 2 -2.763280 1 1 121412 13 42 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.030000 0 0.080000 0.040000 0.044107 0.030000 0 1.000000e-02 0.060000 LTBP2 4053 broad.mit.edu 37 14 74988701 74988701 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:74988701G>A ENST00000261978.4 - 17 3087 c.2701C>T c.(2701-2703)Cgc>Tgc p.R901C LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 58 TTGATGCAGCGCCCTTTTCCC 0.622000 0 SO:0001583 missense ENST00000261978.4 1 1 hg19 CCDS9831.1 . . . . . . . . . . G 19.50 3.840149 0.71488 . . ENSG00000119681 ENST00000261978;ENST00000556690 T;T 0.22336 1.96;1.96 3.99 3.99 0.46301 EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1); 0.184414 0.26525 N 0.023890 T 0.47710 0.1460 M 0.86864 2.845 0.50467 D 0.999877 D 0.76494 0.999 P 0.62740 0.906 T 0.55970 -0.8056 10 0.52906 T 0.07 . 13.9681 0.64221 0.0:0.0:1.0:0.0 . 901 Q14767 LTBP2_HUMAN C 901 ENSP00000261978:R901C;ENSP00000451477:R901C ENSP00000261978:R901C R - 1 0 LTBP2 74058454 0.999000 0.42202 0.944000 0.38274 0.649000 0.38597 7.347000 0.79356 2.214000 0.71695 0.462000 0.41574 CGC TCGA-US-A779-01A-11D-A32N-08 LTBP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000413595.1 1 0 0 14 134 0 28 0 2.650262e-01 1 9 0 28 2 0 0 0 0 0 2 1 0.999772 13 132 0 28 2 0 0 0 0 28 2 -19.799490 1 1 121400 3 31 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.330000 1.900000e-01 0.510000 0.320000 0.347093 0.330000 0 2.500000e-01 0.430000 TRIP11 9321 broad.mit.edu 37 14 92470800 92470800 + Missense_Mutation SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:92470800C>G ENST00000267622.4 - 11 3893 c.3520G>C c.(3520-3522)Gat>Cat p.D1174H NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 58 CTTAGTGCATCTATTTCGATG 0.348000 T PDGFRB AML Ovarian(84;609 1888 9852 42686) Dom yes 14 14q31-q32 9321 thyroid hormone receptor interactor 11 L 0 SO:0001583 missense ENST00000267622.4 0 1 hg19 CCDS9899.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 15.27|15.27 2.784471|2.784471 0.49997|0.49997 .|. .|. ENSG00000100815|ENSG00000100815 ENST00000267622;ENST00000542257|ENST00000554357 T|. 0.07800|. 3.16|. 5.26|5.26 5.26|5.26 0.73747|0.73747 .|. 0.000000|. 0.85682|. D|. 0.000000|. T|T 0.59742|0.59742 0.2216|0.2216 L|L 0.32530|0.32530 0.975|0.975 0.80722|0.80722 D|D 1|1 D;D|. 0.89917|. 1.0;1.0|. D;D|. 0.97110|. 1.0;0.999|. T|T 0.54721|0.54721 -0.8251|-0.8251 10|5 0.72032|. D|. 0.01|. .|. 18.8762|18.8762 0.92337|0.92337 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. 910;1174|. F5H1Z0;Q15643|. .;TRIPB_HUMAN|. H|T 1174;910|889 ENSP00000267622:D1174H|. ENSP00000267622:D1174H|. D|R -|- 1|2 0|0 TRIP11|TRIP11 91540553|91540553 1.000000|1.000000 0.71417|0.71417 0.982000|0.982000 0.44146|0.44146 0.341000|0.341000 0.28922|0.28922 6.025000|6.025000 0.70864|0.70864 2.447000|2.447000 0.82792|0.82792 0.557000|0.557000 0.71058|0.71058 GAT|AGA TCGA-US-A779-01A-11D-A32N-08 TRIP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411823.1 0 0 0 9 235 0 49 0 2.385097e-02 0 6 0 49 2 0 0 0 0 0 2 1 0.994468 9 235 0 49 2 0 0 0 0 49 2 -4.009418 1 1 0 0 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.130000 6.000000e-02 0.230000 0.130000 0.141378 0.130000 0 9.000000e-02 0.180000 TRIP11 9321 broad.mit.edu 37 14 92470905 92470905 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:92470905C>T ENST00000267622.4 - 11 3788 c.3415G>A c.(3415-3417)Gaa>Aaa p.E1139K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 58 TTTTTATTTTCATCTTGCAGT 0.338000 T PDGFRB AML Ovarian(84;609 1888 9852 42686) Dom yes 14 14q31-q32 9321 thyroid hormone receptor interactor 11 L 0 SO:0001583 missense ENST00000267622.4 0 1 hg19 CCDS9899.1 . . . . . . . . . . C 15.28 2.785706 0.49997 . . ENSG00000100815 ENST00000267622;ENST00000542257 T 0.07444 3.19 5.27 4.36 0.52297 . 0.167607 0.51477 D 0.000096 T 0.19725 0.0474 L 0.34521 1.04 0.50632 D 0.999884 D;D 0.89917 1.0;1.0 D;D 0.91635 0.982;0.999 T 0.01156 -1.1434 10 0.62326 D 0.03 . 15.583 0.76459 0.0:0.8616:0.1384:0.0 . 875;1139 F5H1Z0;Q15643 .;TRIPB_HUMAN K 1139;875 ENSP00000267622:E1139K ENSP00000267622:E1139K E - 1 0 TRIP11 91540658 1.000000 0.71417 0.729000 0.30791 0.253000 0.25986 7.773000 0.85462 1.158000 0.42547 0.563000 0.77884 GAA TCGA-US-A779-01A-11D-A32N-08 TRIP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000411823.1 0 0 0 4 113 0 25 0 1.869489e-02 0 5 0 25 2 0 0 0 0 0 2 1 0.891652 4 113 0 24 2 0 0 0 0 25 2 -7.131868 1 0 0 0 1 0 0 0 2.070463 0 0.570000 1.860000 0.567535 0.130000 4.000000e-02 0.280000 0.120000 0.145638 0.130000 0 7.000000e-02 0.200000 GLDN 342035 broad.mit.edu 37 15 51696848 51696848 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:51696848C>T ENST00000335449.6 + 10 1609 c.1553C>T c.(1552-1554)gCc>gTc p.A518V GLDN_ENST00000396399.2_Missense_Mutation_p.A394V NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 19 TCTGTTCTTGCCATGTTAGCA 0.378000 0 SO:0001583 missense ENST00000335449.6 0 1 hg19 CCDS10140.2 . . . . . . . . . . C 33 5.230301 0.95207 . . ENSG00000186417 ENST00000335449;ENST00000396399;ENST00000537339 D;D 0.89123 -2.47;-2.47 5.8 5.8 0.92144 Olfactomedin-like (3); 0.000000 0.43110 D 0.000613 D 0.92899 0.7741 L 0.46741 1.465 0.58432 D 0.999998 D 0.89917 1.0 D 0.83275 0.996 D 0.91752 0.5413 10 0.42905 T 0.14 . 20.0693 0.97712 0.0:1.0:0.0:0.0 . 518 Q6ZMI3 GLDN_HUMAN V 518;394;394 ENSP00000335196:A518V;ENSP00000379681:A394V ENSP00000335196:A518V A + 2 0 GLDN 49484140 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.487000 0.81328 2.758000 0.94735 0.563000 0.77884 GCC TCGA-US-A779-01A-11D-A32N-08 GLDN-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254667.2 0 0 0 5 598 0 112 0 0 0 0 112 2 0 0 0 0 0 2 1 0.937228 5 596 0 112 2 0 0 0 0 112 2 -2.123722 0 1 0 0 1 0 0 0 2.040521 0 0.570000 1.860000 0.559967 0.020000 0 0.070000 0.030000 0.033324 0.020000 0 1.000000e-02 0.050000 SMG1 23049 broad.mit.edu 37 16 18858860 18858860 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:18858860G>A ENST00000446231.2 - 38 6323 c.5911C>T c.(5911-5913)Ctg>Ttg p.L1971L SMG1_ENST00000389467.3_Silent_p.L1971L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 92 TGTTGTTGCAGCAAAACTCCC 0.493000 0 SO:0001819 synonymous_variant ENST00000446231.2 0 1 hg19 CCDS45430.1 TCGA-US-A779-01A-11D-A32N-08 SMG1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000391817.1 0 0 0 7 400 0 79 0 2.493445e-03 0 4 0 79 2 0 0 0 0 0 2 1 0.980470 7 398 0 79 2 0 0 0 0 79 2 -2.587348 1 1 0 0 1 0 0 0 2.039218 0 0.570000 1.860000 0.559967 0.050000 2.000000e-02 0.120000 0.060000 0.066963 0.050000 0 3.000000e-02 0.090000 PAQR4 124222 broad.mit.edu 37 16 3021758 3021758 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3021758G>A ENST00000318782.8 + 3 1061 c.631G>A c.(631-633)Gca>Aca p.A211T PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000571102.1_5'Flank NM_001284513.1|NM_152341.3 NP_001271442.1|NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 8 GCGCATGGACGCACTGGCGCT 0.657000 0 SO:0001583 missense ENST00000318782.8 0 1 hg19 CCDS10485.1 . . . . . . . . . . g 11.42 1.633267 0.29068 . . ENSG00000162073 ENST00000318782;ENST00000293978 T;T 0.30714 1.52;1.53 4.81 4.81 0.61882 . 0.062180 0.64402 D 0.000007 T 0.38639 0.1048 M 0.64080 1.96 0.37162 D 0.902642 D;P;P 0.56521 0.976;0.78;0.919 P;B;B 0.48840 0.592;0.187;0.37 T 0.41088 -0.9528 10 0.23302 T 0.38 -10.4425 15.3988 0.74818 0.0:0.0:1.0:0.0 . 136;172;211 Q8N4S7-3;Q8N4S7-2;Q8N4S7 .;.;PAQR4_HUMAN T 211;137 ENSP00000321804:A211T;ENSP00000293978:A137T ENSP00000293978:A137T A + 1 0 PAQR4 2961759 0.995000 0.38212 0.120000 0.21714 0.698000 0.40448 3.970000 0.56824 2.220000 0.72140 0.457000 0.33378 GCA TCGA-US-A779-01A-11D-A32N-08 PAQR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250966.1 0 0 0 5 368 0 85 0 1.782135e-01 0 47 0 85 2 0 0 0 0 0 2 1 0.936161 5 364 0 85 2 0 0 0 0 85 2 -2.926860 1 1 121360 8 41 1 0 0 0 2.039218 0 0.570000 1.860000 0.559967 0.040000 0 0.100000 0.040000 0.054687 0.040000 0 2.000000e-02 0.080000 MEFV 4210 broad.mit.edu 37 16 3299648 3299648 + Missense_Mutation SNP C C T rs104895198 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3299648C>T ENST00000219596.1 - 3 1082 c.1043G>A c.(1042-1044)cGc>cAc p.R348H MEFV_ENST00000339854.4_Missense_Mutation_p.R168H|MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever p.R348H(1) 50 GCCAGGTGAGCGGCTGCCTGA 0.657000 1 Substitution - Missense(1) SO:0001583 missense ENST00000219596.1 1 1 hg19 CCDS10498.1 . . . . . . . . . . C 5.370 0.253552 0.10185 2.28E-4 3.49E-4 ENSG00000103313 ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868 T;T;T;T 0.64618 -0.11;0.32;0.22;0.33 4.11 -8.23 0.01033 . 2.533260 0.01059 N 0.004617 T 0.41971 0.1182 N 0.08118 0 0.09310 N 1 B 0.10296 0.003 B 0.04013 0.001 T 0.43410 -0.9393 10 0.33141 T 0.24 -27.6587 14.814 0.70017 0.0:0.7071:0.1089:0.184 . 348 O15553 MEFV_HUMAN H 348;348;168;137;137;137 ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H ENSP00000219596:R348H R - 2 0 MEFV 3239649 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -3.762000 0.00373 -2.922000 0.00304 -0.251000 0.11542 CGC TCGA-US-A779-01A-11D-A32N-08 MEFV-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251464.1 1 0 1 40 139 0 41 0 0 0 0 41 2 0 0 0 0 0 2 1 1.000000 40 137 0 41 2 0 0 0 0 41 2 -3.318401 1 1 121406 30 42 1 0 0 0 2.039218 0 0.570000 1.860000 0.559967 0.760000 5.600000e-01 0.970000 0.760000 0.772374 0.760000 0 6.600000e-01 0.880000 CREBBP 1387 broad.mit.edu 37 16 3824628 3824628 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3824628C>A ENST00000262367.5 - 12 3034 c.2225G>T c.(2224-2226)cGt>cTt p.R742L CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 295 Ovarian(90;0.0266) GGAGGCTGCACGAGGTCCCAT 0.522000 T, N, F, Mis, O MLL, MORF, RUNXBP2 ALL, AML, DLBCL, B-NHL Rubinstein-Taybi syndrome Dom/Rec yes 16 16p13.3 1387 CREB binding protein (CBP) yes L 0 SO:0001583 missense ENST00000262367.5 0 1 hg19 CCDS10509.1 . . . . . . . . . . C 22.8 4.333841 0.81801 . . ENSG00000005339 ENST00000262367;ENST00000543883;ENST00000382070 D;D 0.84070 -1.8;-1.74 4.79 4.79 0.61399 . 0.000000 0.85682 D 0.000000 D 0.88952 0.6577 L 0.56280 1.765 0.80722 D 1 D;D 0.89917 1.0;0.976 D;P 0.73380 0.98;0.901 D 0.88209 0.2889 10 0.44086 T 0.13 -18.4109 18.3882 0.90473 0.0:1.0:0.0:0.0 . 772;742 Q4LE28;Q92793 .;CBP_HUMAN L 742;772;704 ENSP00000262367:R742L;ENSP00000371502:R704L ENSP00000262367:R742L R - 2 0 CREBBP 3764629 1.000000 0.71417 0.203000 0.23512 0.964000 0.63967 6.965000 0.76067 2.663000 0.90544 0.557000 0.71058 CGT TCGA-US-A779-01A-11D-A32N-08 CREBBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251591.2 0 0 0 5 352 0 68 0 3.945584e-02 0 18 0 68 2 0 0 0 0 0 2 0 0.934175 0 349 0 68 2 0 0 0 0 68 2 -5.314512 1 0 0 0 1 0 0 0 2.039218 0 0.570000 1.860000 0.559967 0.040000 1.000000e-02 0.110000 0.050000 0.057138 0.040000 0 2.000000e-02 0.080000 PMFBP1 83449 broad.mit.edu 37 16 72170640 72170640 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:72170640G>A ENST00000237353.10 - 8 1258 c.997C>T c.(997-999)Cgc>Tgc p.R333C PMFBP1_ENST00000537465.1_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C NM_031293.2 NP_112583.2 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 45 Ovarian(137;0.179) AGTTCCACGCGCAGATCCTTC 0.552000 0 SO:0001583 missense ENST00000237353.10 0 1 hg19 CCDS32483.1 . . . . . . . . . . G 17.38 3.375346 0.61735 . . ENSG00000118557 ENST00000537465;ENST00000237353;ENST00000355636 T;T;T 0.19250 2.18;2.19;2.16 4.85 1.33 0.21861 . 0.554792 0.13865 N 0.357364 T 0.33440 0.0863 L 0.36672 1.1 0.42002 D 0.990895 D;D;D 0.89917 1.0;0.999;1.0 D;P;D 0.83275 0.996;0.881;0.996 T 0.07121 -1.0789 10 0.59425 D 0.04 -1.6358 10.8676 0.46864 0.0:0.0:0.3296:0.6704 . 333;333;333 Q8TBY8;Q8TBY8-2;G3V1Q7 PMFBP_HUMAN;.;. C 333;333;188 ENSP00000443817:R333C;ENSP00000237353:R333C;ENSP00000347854:R188C ENSP00000237353:R333C R - 1 0 PMFBP1 70728141 0.994000 0.37717 0.976000 0.42696 0.795000 0.44927 0.773000 0.26661 0.403000 0.25479 0.563000 0.77884 CGC TCGA-US-A779-01A-11D-A32N-08 PMFBP1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000396473.2 0 0 0 4 202 0 35 0 0 0 1 0 35 2 0 0 0 0 0 2 1 0.888902 4 200 0 35 2 0 0 0 0 35 2 -5.280537 1 1 121412 4 37 1 0 0 0 2.043785 0 0.570000 1.860000 0.565041 0.070000 1.000000e-02 0.160000 0.070000 0.083045 0.070000 0 4.000000e-02 0.120000 KCNG4 93107 broad.mit.edu 37 16 84256037 84256037 + Missense_Mutation SNP G G A rs142742654 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:84256037G>A ENST00000308251.4 - 3 1414 c.1346C>T c.(1345-1347)cCg>cTg p.P449L NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 31 AGACGTGGCCGGGAAGGCCAT 0.627000 0 SO:0001583 missense ENST00000308251.4 0 1 hg19 CCDS10945.1 . . . . . . . . . . G 27.4 4.831268 0.91036 0.0 1.16E-4 ENSG00000168418 ENST00000308251 T 0.56103 0.48 5.61 5.61 0.85477 . 0.000000 0.85682 D 0.000000 T 0.75496 0.3857 M 0.81239 2.535 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 T 0.78380 -0.2226 10 0.87932 D 0 . 18.6264 0.91340 0.0:0.0:1.0:0.0 . 449 Q8TDN1 KCNG4_HUMAN L 449 ENSP00000312129:P449L ENSP00000312129:P449L P - 2 0 KCNG4 82813538 1.000000 0.71417 0.999000 0.59377 1.000000 0.99986 9.869000 0.99810 2.631000 0.89168 0.655000 0.94253 CCG TCGA-US-A779-01A-11D-A32N-08 KCNG4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269079.2 0 0 0 5 478 0 101 0 0 0 0 101 2 0 0 0 0 0 2 1 0.935064 5 470 0 98 2 0 0 0 0 101 2 -2.234781 0 1 121412 5 39 1 0 0 0 2.043785 0 0.570000 1.860000 0.565041 0.030000 0 0.080000 0.040000 0.042550 0.030000 0 1.000000e-02 0.060000 KIAA1468 57614 broad.mit.edu 37 18 59919929 59919929 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr18:59919929C>T ENST00000398130.2 + 12 1998 c.1766C>T c.(1765-1767)gCg>gTg p.A589V KIAA1468_ENST00000256858.6_Missense_Mutation_p.A589V NM_020854.3 NP_065905.2 Q9P260 K1468_HUMAN KIAA1468 47 Colorectal(73;0.186) GTGGCATTTGCGCGTCATGTT 0.388000 0 SO:0001583 missense ENST00000398130.2 0 1 hg19 CCDS11979.2 . . . . . . . . . . C 34 5.376217 0.95945 . . ENSG00000134444 ENST00000398130;ENST00000256858 T;T 0.44482 0.92;0.92 5.81 5.81 0.92471 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.65344 0.2682 M 0.66378 2.025 0.80722 D 1 D;D;D 0.89917 0.979;1.0;1.0 P;D;D 0.91635 0.802;0.999;0.998 T 0.61481 -0.7054 9 . . . -14.7767 20.0621 0.97678 0.0:1.0:0.0:0.0 . 589;589;233 Q9P260-2;Q9P260;B2RD46 .;K1468_HUMAN;. V 589 ENSP00000381198:A589V;ENSP00000256858:A589V . A + 2 0 KIAA1468 58070909 1.000000 0.71417 1.000000 0.80357 0.991000 0.79684 7.723000 0.84788 2.750000 0.94351 0.655000 0.94253 GCG TCGA-US-A779-01A-11D-A32N-08 KIAA1468-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256187.1 0 0 0 5 259 0 57 0 7.287236e-02 0 19 0 57 2 0 0 0 0 0 2 1 0.935597 5 255 0 57 2 0 0 0 0 57 2 -2.366711 0 1 121412 1 27 1 1 2 3 2.089381 0 0.570000 1.860000 0.571222 0.070000 2.000000e-02 0.150000 0.070000 0.079148 0.070000 0 4.000000e-02 0.110000 MRPL34 64981 broad.mit.edu 37 19 17417119 17417119 + Silent SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:17417119G>T ENST00000252602.1 + 2 435 c.210G>T c.(208-210)ctG>ctT p.L70L MRPL34_ENST00000594999.1_Silent_p.L70L|ABHD8_ENST00000247706.3_5'Flank|MRPL34_ENST00000602206.1_Nonstop_Mutation_p.*37L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L NM_023937.3 NP_076426.1 Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 2 TCCGGCGCCTGAGCACGCCGG 0.672000 0 SO:0001819 synonymous_variant ENST00000252602.1 1 0 hg19 CCDS12356.1 TCGA-US-A779-01A-11D-A32N-08 MRPL34-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000463516.1 1 0 1 18 63 0 25 1 1 147 238 0 25 2 0 0 0 0 0 2 1 0.999991 18 62 0 25 2 0 0 0 0 25 2 -20.000000 1 1 0 0 1 0 0 0 2.045239 0 0.570000 1.860000 0.565041 0.770000 4.900000e-01 1.000000 1.000000 0.778722 0.770000 0 6.200000e-01 0.940000 UNC13A 23025 broad.mit.edu 37 19 17720864 17720864 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:17720864G>A ENST00000519716.2 - 43 4695 c.4696C>T c.(4696-4698)Cgg>Tgg p.R1566W UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W NM_001080421.2 NP_001073890.2 Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 61 ATGAACGGCCGGAAGATGCCA 0.517000 0 SO:0001583 missense ENST00000519716.2 0 1 hg19 CCDS46013.2 . . . . . . . . . . G 20.5 4.007738 0.75046 . . ENSG00000130477 ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896 T;T;T;T;T;T 0.69685 -0.42;-0.42;-0.42;-0.42;-0.42;-0.42 4.13 4.13 0.48395 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.000000 0.85682 U 0.000000 D 0.84005 0.5377 M 0.89968 3.075 0.46981 D 0.999273 D 0.89917 1.0 D 0.85130 0.997 D 0.87780 0.2611 10 0.87932 D 0 -17.1577 13.9527 0.64129 0.0:0.0:1.0:0.0 . 1566 Q9UPW8 UN13A_HUMAN W 1566;1654;1566;1585;1560;1539 ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W ENSP00000252773:R1566W R - 1 2 UNC13A 17581864 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 3.923000 0.56469 1.869000 0.54173 0.478000 0.44815 CGG TCGA-US-A779-01A-11D-A32N-08 UNC13A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000376169.2 0 0 0 8 642 0 144 0 0 0 1 0 144 2 0 0 0 0 0 2 1 0.988807 8 633 0 142 2 0 0 0 0 144 2 -2.046657 0 1 0 0 1 0 0 0 2.045239 0 0.570000 1.860000 0.565041 0.040000 1.000000e-02 0.080000 0.040000 0.047979 0.040000 0 2.000000e-02 0.060000 ZFP82 284406 broad.mit.edu 37 19 36884698 36884698 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:36884698G>A ENST00000392161.3 - 5 786 c.544C>T c.(544-546)Cgc>Tgc p.R182C ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 25 AGCTGTTGGCGCACTCTGAAC 0.438000 0 SO:0001583 missense ENST00000392161.3 0 1 hg19 CCDS12493.1 . . . . . . . . . . G 13.60 2.285544 0.40394 . . ENSG00000181007 ENST00000392161;ENST00000392171 T;T 0.16073 2.37;2.37 4.05 2.92 0.33932 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.000000 0.37393 N 0.002115 T 0.26991 0.0661 L 0.43646 1.37 0.22911 N 0.998579 D 0.89917 1.0 D 0.63488 0.915 T 0.01977 -1.1236 10 0.35671 T 0.21 . 10.9206 0.47163 0.0:0.0:0.8124:0.1876 . 182 Q8N141 ZFP82_HUMAN C 182 ENSP00000431265:R182C;ENSP00000446080:R182C ENSP00000431265:R182C R - 1 0 ZFP82 41576538 0.000000 0.05858 0.991000 0.47740 0.979000 0.70002 -0.345000 0.07770 2.282000 0.76494 0.655000 0.94253 CGC TCGA-US-A779-01A-11D-A32N-08 ZFP82-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000109552.2 0 0 0 5 288 1 63 0 0 0 1 63 2 0 0 0 0 0 2 0 0.010352 5 282 1 63 16 0 0 0 1 63 2 -2.867962 1 1 121412 1 29 1 0 0 0 2.045239 0 0.570000 1.860000 0.565041 0.060000 1.000000e-02 0.130000 0.060000 0.070359 0.060000 0 3.000000e-02 0.100000 HIF3A 64344 broad.mit.edu 37 19 46825050 46825050 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:46825050A>G ENST00000377670.4 + 10 1193 c.1162A>G c.(1162-1164)Atc>Gtc p.I388V HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V NM_152795.3 NP_690008.2 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 33 Ovarian(192;0.00965)|all_neural(266;0.0887) TGGCCCCCGGATCCTTGCCTT 0.682000 0 SO:0001583 missense ENST00000377670.4 1 1 hg19 CCDS12681.2 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 6.499|6.499 0.460253|0.460253 0.12342|0.12342 .|. .|. ENSG00000124440|ENSG00000124440 ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102 .|T;T;T;T;T .|0.64803 .|0.63;-0.11;0.51;0.63;-0.12 4.43|4.43 3.42|3.42 0.39159|0.39159 .|. .|1.554280 .|0.03882 .|N .|0.277189 T|T 0.53351|0.53351 0.1791|0.1791 N|N 0.24115|0.24115 0.695|0.695 0.24933|0.24933 N|N 0.991907|0.991907 .|B;B;B;P;B;B;B .|0.48350 .|0.074;0.048;0.119;0.909;0.073;0.073;0.024 .|B;B;B;P;B;B;B .|0.48304 .|0.062;0.048;0.067;0.573;0.031;0.031;0.01 T|T 0.43686|0.43686 -0.9376|-0.9376 5|10 .|0.11182 .|T .|0.66 .|. 6.4511|6.4511 0.21903|0.21903 0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0 .|. .|337;319;386;337;332;388;388 .|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185 .|.;.;.;.;.;HIF3A_HUMAN;. G|V 360|388;388;319;332;332;386;337 .|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V .|ENSP00000244302:I388V D|I +|+ 2|1 0|0 HIF3A|HIF3A 51516890|51516890 0.996000|0.996000 0.38824|0.38824 1.000000|1.000000 0.80357|0.80357 0.473000|0.473000 0.32948|0.32948 0.753000|0.753000 0.26376|0.26376 0.874000|0.874000 0.35823|0.35823 0.533000|0.533000 0.62120|0.62120 GAT|ATC TCGA-US-A779-01A-11D-A32N-08 HIF3A-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000280556.3 1 0 1 212 561 0 152 0 0 0 1 0 152 2 0 0 0 0 1 2 1 1.000000 210 548 0 150 2 0 0 0 0 152 2 -20.000000 1 1 0 0 1 1 2 3 2.143403 0 0.570000 1.860000 0.576041 0.970000 8.600000e-01 1.000000 1.000000 0.965124 0.970000 1 9.100000e-01 1.000000 CNOT3 4849 broad.mit.edu 37 19 54646728 54646728 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:54646728G>A ENST00000406403.1 + 1 1617 c.14G>A c.(13-15)cGc>cAc p.R5H CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCGGACAAGCGCAAACTCCAA 0.527000 0 SO:0001583 missense ENST00000406403.1 0 1 hg19 CCDS12880.1 . . . . . . . . . . G 30 5.051461 0.93793 . . ENSG00000088038 ENST00000221232;ENST00000406403 T;T 0.73363 -0.74;-0.74 4.87 4.87 0.63330 Not CCR4-Not complex component, N-terminal (1); 0.135232 0.48286 D 0.000197 D 0.88328 0.6407 M 0.90082 3.085 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.997 D 0.90703 0.4622 10 0.87932 D 0 -24.7136 15.3142 0.74059 0.0:0.0:1.0:0.0 . 5;5 B7Z6J7;O75175 .;CNOT3_HUMAN H 5 ENSP00000221232:R5H;ENSP00000383954:R5H ENSP00000221232:R5H R + 2 0 CNOT3 59338540 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.832000 0.86757 2.429000 0.82318 0.655000 0.94253 CGC TCGA-US-A779-01A-11D-A32N-08 CNOT3-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000142130.3 0 0 0 6 523 0 121 0 9.862287e-02 1 38 0 121 2 0 0 0 0 0 2 1 0.964741 7 520 0 120 2 0 0 0 0 121 2 -1.887841 0 1 0 0 1 1 2 3 2.148291 0 0.570000 1.860000 0.577229 0.040000 0 1.000000 0.040000 0.091633 0.040000 0 2.000000e-02 0.070000 LAIR1 3903 broad.mit.edu 37 19 54872775 54872775 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:54872775C>T ENST00000391742.2 - 3 264 c.112G>A c.(112-114)Gtg>Atg p.V38M LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391743.3_Missense_Mutation_p.V20M Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 26 Ovarian(34;0.19) AGGGGGATCACGGTGCCTGGC 0.582000 0 SO:0001583 missense ENST00000391742.2 0 1 hg19 CCDS12891.1 . . . . . . . . . . . 13.40 2.225204 0.39300 4.54E-4 1.16E-4 ENSG00000167613 ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193 T;T;T;T;T;T;T 0.14766 2.48;2.48;2.48;2.48;2.48;2.48;5.55 3.16 -1.77 0.07982 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 1.038110 0.07680 N 0.936945 T 0.22781 0.0550 M 0.72353 2.195 0.09310 N 1 P;B;B;P;P;P 0.49696 0.628;0.448;0.436;0.927;0.626;0.673 B;B;B;P;B;B 0.52554 0.267;0.266;0.118;0.702;0.097;0.323 T 0.28396 -1.0045 10 0.35671 T 0.21 . 6.5499 0.22427 0.0:0.5255:0.0:0.4745 . 38;20;37;37;38;38 Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8 .;.;.;.;.;LAIR1_HUMAN M 20;38;37;38;31;37;32 ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M ENSP00000319204:V31M V - 1 0 LAIR1 59564587 0.000000 0.05858 0.000000 0.03702 0.002000 0.02628 -0.630000 0.05502 -0.205000 0.10219 -0.210000 0.12710 GTG TCGA-US-A779-01A-11D-A32N-08 LAIR1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000140506.1 0 0 0 11 638 0 145 0 1.471472e-02 0 10 0 145 2 0 0 0 0 0 2 1 0.998261 11 632 0 144 2 0 0 0 0 145 2 -2.756040 1 1 121412 23 48 1 1 2 3 2.148761 0 0.570000 1.860000 0.577229 0.060000 2.000000e-02 1.000000 0.060000 0.109562 0.060000 0 4.000000e-02 0.090000 BRSK1 84446 broad.mit.edu 37 19 55814225 55814225 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:55814225C>T ENST00000309383.1 + 10 1295 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) TCGCGAGCTGCGCAGTGAGGA 0.662000 0 SO:0001583 missense ENST00000309383.1 1 1 hg19 CCDS12921.1 . . . . . . . . . . . 16.92 3.256628 0.59321 . . ENSG00000160469 ENST00000309383;ENST00000543410;ENST00000326848 T;T 0.72167 -0.63;1.95 4.69 3.62 0.41486 Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1); 0.301128 0.28865 N 0.013882 T 0.66157 0.2761 N 0.08118 0 0.49483 D 0.999797 D;D 0.71674 0.996;0.998 P;P 0.61201 0.771;0.885 T 0.72620 -0.4238 10 0.72032 D 0.01 . 13.1288 0.59369 0.1618:0.8382:0.0:0.0 . 340;356 Q8TDC3;Q8TDC3-2 BRSK1_HUMAN;. C 340;35;35 ENSP00000310649:R340C;ENSP00000320853:R35C ENSP00000310649:R340C R + 1 0 BRSK1 60506037 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 2.281000 0.43452 1.075000 0.40932 0.655000 0.94253 CGC TCGA-US-A779-01A-11D-A32N-08 BRSK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452787.1 1 0 1 67 189 0 74 0 3.934358e-01 1 4 0 74 2 0 0 0 0 0 2 1 1.000000 66 187 0 74 2 0 0 0 0 74 2 -5.355290 1 1 0 0 1 1 2 3 2.148761 0 0.570000 1.860000 0.577229 0.930000 7.400000e-01 1.000000 1.000000 0.925591 0.930000 1 8.300000e-01 1.000000 NLRP8 126205 broad.mit.edu 37 19 56466799 56466799 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:56466799G>A ENST00000291971.3 + 3 1446 c.1375G>A c.(1375-1377)Gca>Aca p.A459T NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 35 Colorectal(82;0.000147)|Ovarian(87;0.17) TCACTTGGCCGCAGACAGCAT 0.498000 0 SO:0001583 missense ENST00000291971.3 0 1 hg19 CCDS12937.1 . . . . . . . . . . G 12.58 1.979924 0.34942 . . ENSG00000179709 ENST00000291971 D 0.83837 -1.77 2.04 0.947 0.19555 . . . . . D 0.87438 0.6177 M 0.74647 2.275 0.09310 N 1 D;D 0.89917 1.0;1.0 D;D 0.65010 0.928;0.931 T 0.75419 -0.3324 9 0.72032 D 0.01 . 5.6935 0.17843 0.0:0.0:0.6797:0.3203 . 459;459 Q86W28-2;Q86W28 .;NALP8_HUMAN T 459 ENSP00000291971:A459T ENSP00000291971:A459T A + 1 0 NLRP8 61158611 0.057000 0.20700 0.001000 0.08648 0.002000 0.02628 2.681000 0.46926 0.401000 0.25424 -0.426000 0.05927 GCA TCGA-US-A779-01A-11D-A32N-08 NLRP8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457462.1 0 0 0 7 557 0 91 0 0 0 0 91 2 0 0 0 0 0 2 0 0.005371 7 553 1 89 21 0 0 0 0 91 2 -2.083570 0 1 121412 1 31 1 1 2 3 2.148761 0 0.570000 1.860000 0.577229 0.040000 1.000000e-02 1.000000 0.040000 0.095049 0.040000 0 2.000000e-02 0.070000 OR7D4 125958 broad.mit.edu 37 19 9324694 9324694 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:9324694C>T ENST00000308682.2 - 1 848 c.820G>A c.(820-822)Gcc>Acc p.A274T NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 26 ATCACTGAGGCGGTGGAGCTG 0.552000 0 SO:0001583 missense ENST00000308682.2 0 1 hg19 CCDS32901.1 . . . . . . . . . . C 5.291 0.239022 0.10023 2.27E-4 0.0 ENSG00000174667 ENST00000308682 T 0.38077 1.16 3.49 2.44 0.29823 GPCR, rhodopsin-like superfamily (1); 0.112635 0.39759 N 0.001267 T 0.34395 0.0896 M 0.70842 2.15 0.09310 N 1 B 0.27765 0.188 B 0.31290 0.127 T 0.34502 -0.9826 10 0.59425 D 0.04 . 5.1087 0.14798 0.0:0.665:0.2133:0.1217 . 274 Q8NG98 OR7D4_HUMAN T 274 ENSP00000310488:A274T ENSP00000310488:A274T A - 1 0 OR7D4 9185694 0.000000 0.05858 0.371000 0.25978 0.046000 0.14306 -0.229000 0.09098 0.831000 0.34780 0.205000 0.17691 GCC TCGA-US-A779-01A-11D-A32N-08 OR7D4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000449004.1 0 0 0 6 323 0 80 0 0 0 0 80 2 0 0 0 0 0 2 1 0.962952 6 316 0 80 2 0 0 0 0 80 2 -3.283063 1 1 121412 3 38 1 0 0 0 2.045239 0 0.570000 1.860000 0.565041 0.060000 2.000000e-02 0.130000 0.060000 0.073202 0.060000 0 4.000000e-02 0.100000 POU2F1 5451 broad.mit.edu 37 1 167343484 167343484 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:167343484C>A ENST00000541643.3 + 7 635 c.473C>A c.(472-474)gCc>gAc p.A158D POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.A170D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D P14859 PO2F1_HUMAN POU class 2 homeobox 1 30 GCCTCTGCTGCCACGCCCATG 0.617000 0 SO:0001583 missense ENST00000541643.3 0 1 hg19 . . . . . . . . . . C 37 6.377326 0.97520 . . ENSG00000143190 ENST00000367866;ENST00000452019;ENST00000492850;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275 T;T;T;T;T;T;T 0.77877 -1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13 5.77 5.77 0.91146 . 0.167697 0.37530 N 0.002053 D 0.84188 0.5417 L 0.52573 1.65 0.80722 D 1 D;D;D;D 0.76494 0.999;0.999;0.999;0.998 D;D;D;D 0.85130 0.991;0.996;0.997;0.99 D 0.84611 0.0678 10 0.72032 D 0.01 . 20.0589 0.97667 0.0:1.0:0.0:0.0 . 158;170;156;158 P14859-4;P14859-2;P14859-3;P14859 .;.;.;PO2F1_HUMAN D 181;158;35;156;158;158;170;66 ENSP00000356840:A181D;ENSP00000391523:A158D;ENSP00000356839:A156D;ENSP00000414660:A158D;ENSP00000441285:A158D;ENSP00000356836:A170D;ENSP00000415993:A66D ENSP00000356836:A170D A + 2 0 POU2F1 165610108 1.000000 0.71417 1.000000 0.80357 0.983000 0.72400 7.453000 0.80700 2.732000 0.93576 0.650000 0.86243 GCC TCGA-US-A779-01A-11D-A32N-08 POU2F1-203 KNOWN basic|appris_candidate protein_coding protein_coding 0 0 0 5 168 0 32 0 1.363636e-03 0 2 0 32 2 0 0 0 0 0 2 0 0.925901 0 161 0 25 2 0 0 0 0 32 2 -7.160779 1 0 0 0 1 1 2 3 2.091686 0 0.570000 1.860000 0.571222 0.100000 3.000000e-02 0.230000 0.100000 0.120126 0.100000 0 6.000000e-02 0.170000 CFH 3075 broad.mit.edu 37 1 196714957 196714957 + Silent SNP A A C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 A C A A Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:196714957A>C ENST00000367429.4 + 21 3561 c.3321A>C c.(3319-3321)ggA>ggC p.G1107G NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 101 ATTCTACAGGAAAATGTGGGC 0.398000 0 SO:0001819 synonymous_variant ENST00000367429.4 1 1 hg19 CCDS1385.1 TCGA-US-A779-01A-11D-A32N-08 CFH-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000086412.2 1 0 1 138 418 0 96 0 9.999986e-01 0 61 0 96 2 0 0 0 0 0 2 1 1.000000 138 413 0 96 2 0 0 0 0 96 2 -20.000000 1 1 0 0 1 1 2 3 2.091686 0 0.570000 1.860000 0.571222 0.860000 7.400000e-01 1.000000 0.870000 0.874567 0.860000 1 8.000000e-01 0.940000 SUSD4 55061 broad.mit.edu 37 1 223465880 223465880 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:223465880C>T ENST00000343846.3 - 2 895 c.262G>A c.(262-264)Gga>Aga p.G88R SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R Q5VX71 SUSD4_HUMAN sushi domain containing 4 17 AGCTTGAATCCGTCTTGGCAG 0.512000 0 SO:0001583 missense ENST00000343846.3 1 1 hg19 CCDS41471.1 . . . . . . . . . . C 25.9 4.685607 0.88639 . . ENSG00000143502 ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029 T;T;T 0.76709 -1.04;-1.04;-1.04 5.36 5.36 0.76844 Complement control module (2);Sushi/SCR/CCP (3); 0.000000 0.46442 D 0.000285 D 0.88742 0.6519 M 0.78344 2.41 0.80722 D 1 D;P 0.89917 1.0;0.952 D;B 0.97110 1.0;0.411 D 0.89846 0.4006 10 0.87932 D 0 -7.532 19.0844 0.93198 0.0:1.0:0.0:0.0 . 88;88 Q5VX71-3;Q5VX71 .;SUSD4_HUMAN R 88 ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R ENSP00000271787:G88R G - 1 0 SUSD4 221532503 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 5.685000 0.68204 2.506000 0.84524 0.561000 0.74099 GGA TCGA-US-A779-01A-11D-A32N-08 SUSD4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000092592.2 1 0 1 135 427 0 105 1 9.990046e-01 11 24 0 105 2 0 0 0 0 0 2 1 1.000000 131 421 0 105 2 0 0 0 0 105 2 -4.689269 1 1 0 0 1 1 2 3 2.091686 0 0.570000 1.860000 0.571222 0.840000 7.200000e-01 0.980000 0.840000 0.847133 0.840000 0 7.700000e-01 0.910000 IL22RA1 58985 broad.mit.edu 37 1 24447351 24447351 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:24447351T>C ENST00000270800.1 - 7 1707 c.1669A>G c.(1669-1671)Aca>Gca p.T557A NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) TCCAGTTCTGTGGGCTGCTCC 0.607000 0 SO:0001583 missense ENST00000270800.1 1 1 hg19 CCDS247.1 . . . . . . . . . . T 12.49 1.954597 0.34471 . . ENSG00000142677 ENST00000270800 T 0.11385 2.78 4.97 -9.84 0.00479 . 2.787690 0.01292 N 0.010041 T 0.07052 0.0179 L 0.27053 0.805 0.09310 N 1 B;B 0.11235 0.002;0.004 B;B 0.08055 0.003;0.003 T 0.23511 -1.0186 10 0.41790 T 0.15 11.0103 8.4218 0.32705 0.1227:0.5662:0.0:0.3111 . 489;557 B4E2V9;Q8N6P7 .;I22R1_HUMAN A 557 ENSP00000270800:T557A ENSP00000270800:T557A T - 1 0 IL22RA1 24319938 0.000000 0.05858 0.000000 0.03702 0.862000 0.49288 -2.028000 0.01431 -1.664000 0.01479 0.529000 0.55759 ACA TCGA-US-A779-01A-11D-A32N-08 IL22RA1-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000008412.1 1 0 1 95 310 0 87 1 1 74 73 0 87 2 0 0 0 0 0 2 1 1.000000 93 303 0 87 2 0 0 0 0 87 2 -20.000000 1 1 0 0 1 0 0 0 2.065936 0 0.570000 1.860000 0.567535 0.810000 6.700000e-01 0.960000 0.810000 0.821099 0.810000 0 7.400000e-01 0.890000 ZNF831 128611 broad.mit.edu 37 20 57768280 57768280 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:57768280G>C ENST00000371030.2 + 1 2206 c.2206G>C c.(2206-2208)Ggc>Cgc p.G736R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 125 all_lung(29;0.0085) TGCACTGGGTGGCAGAGACAG 0.627000 0 SO:0001583 missense ENST00000371030.2 0 1 hg19 CCDS42894.1 . . . . . . . . . . G 12.48 1.951969 0.34471 . . ENSG00000124203 ENST00000371030 T 0.04275 3.66 5.08 -4.76 0.03229 . 0.547276 0.17694 N 0.165163 T 0.02727 0.0082 N 0.08118 0 0.09310 N 1 P 0.49961 0.93 P 0.48030 0.564 T 0.39881 -0.9592 10 0.48119 T 0.1 -2.5812 6.2258 0.20708 0.3917:0.0:0.4426:0.1657 . 736 Q5JPB2 ZN831_HUMAN R 736 ENSP00000360069:G736R ENSP00000360069:G736R G + 1 0 ZNF831 57201675 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -0.311000 0.08124 -0.793000 0.04475 0.643000 0.83706 GGC TCGA-US-A779-01A-11D-A32N-08 ZNF831-001 NOVEL basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000079916.2 0 0 0 3 51 0 9 0 0 0 0 9 2 0 0 0 0 0 2 0 0.787372 0 50 0 9 2 0 0 0 0 9 2 -7.428794 1 0 0 0 1 0 0 0 2.062638 0 0.570000 1.860000 0.567535 0.220000 6.000000e-02 0.490000 0.190000 0.245742 0.220000 0 1.200000e-01 0.350000 AIRE 326 broad.mit.edu 37 21 45710997 45710997 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr21:45710997C>T ENST00000291582.5 + 8 1026 c.899C>T c.(898-900)gCc>gTc p.A300V AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator p.A103V(1)|p.A300V(1) 14 GACGAGTGTGCCGTGTGTCGG 0.657000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 2 Substitution - Missense(2) SO:0001583 missense Familial Cancer Database APECED ENST00000291582.5 0 1 hg19 CCDS13706.1 . . . . . . . . . . C 15.73 2.920439 0.52653 . . ENSG00000160224 ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347 D;D;D 0.94497 -3.44;-3.44;-3.44 3.86 2.96 0.34315 Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1); 0.000000 0.44902 D 0.000411 D 0.93536 0.7937 N 0.21142 0.635 0.52099 D 0.999946 D;D 0.89917 0.999;1.0 D;D 0.87578 0.998;0.998 D 0.91753 0.5414 10 0.48119 T 0.1 -32.3727 8.9219 0.35617 0.2232:0.7768:0.0:0.0 . 103;300 B2RP50;O43918 .;AIRE_HUMAN V 300;103;103;93;93 ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V ENSP00000291582:A300V A + 2 0 AIRE 44535425 1.000000 0.71417 0.089000 0.20774 0.196000 0.23810 6.738000 0.74822 0.725000 0.32318 0.462000 0.41574 GCC TCGA-US-A779-01A-11D-A32N-08 AIRE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000195842.2 0 0 0 7 489 0 103 0 0 0 0 103 2 0 0 0 0 0 2 1 0.979594 7 481 0 100 2 0 0 0 0 103 2 -2.344952 0 1 0 0 1 0 0 0 2.067827 0 0.570000 1.860000 0.567535 0.040000 1.000000e-02 0.100000 0.050000 0.056028 0.040000 0 3.000000e-02 0.080000 ZC3H7B 23264 broad.mit.edu 37 22 41742053 41742053 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:41742053C>T ENST00000352645.4 + 14 1763 c.1506C>T c.(1504-1506)ttC>ttT p.F502F ZC3H7B_ENST00000351589.4_Silent_p.F502F NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 38 ACTGCACCTTCGCCTACCATC 0.607000 0 SO:0001819 synonymous_variant ENST00000352645.4 1 1 hg19 CCDS14013.1 TCGA-US-A779-01A-11D-A32N-08 ZC3H7B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320696.1 0 0 0 32 989 0 201 0 5.638036e-01 0 59 0 201 2 0 0 0 0 0 2 1 1.000000 31 982 0 201 2 0 0 0 0 201 2 -2.822420 1 1 0 0 1 1 2 3 2.627496 1 0.570000 1.860000 0.665370 0.130000 9.000000e-02 0.200000 0.150000 0.145362 0.130000 0 1.100000e-01 0.170000 PLXNB2 23654 broad.mit.edu 37 22 50716129 50716129 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 G C G G Valid Somatic Phase_I WXS targeted Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:50716129G>C ENST00000449103.1 - 33 5227 c.5087C>G c.(5086-5088)cCc>cGc p.P1696R PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R O15031 PLXB2_HUMAN plexin B2 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) GATGAAGTGGGGGTTCTTGAG 0.627000 0 SO:0001583 missense ENST00000449103.1 1 1 hg19 CCDS43035.1 . . . . . . . . . . G 24.3 4.515467 0.85389 . . ENSG00000196576 ENST00000449103;ENST00000359337;ENST00000399964 T;T 0.70045 -0.45;-0.45 4.21 4.21 0.49690 Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1); 0.084908 0.50627 D 0.000119 D 0.85265 0.5657 M 0.92026 3.265 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.89427 0.3714 10 0.87932 D 0 . 16.7466 0.85474 0.0:0.0:1.0:0.0 . 1696 O15031 PLXB2_HUMAN R 1696;1696;326 ENSP00000409171:P1696R;ENSP00000352288:P1696R ENSP00000352288:P1696R P - 2 0 PLXNB2 49058256 1.000000 0.71417 0.948000 0.38648 0.954000 0.61252 9.181000 0.94874 2.170000 0.68504 0.491000 0.48974 CCC TCGA-US-A779-01A-11D-A32N-08 PLXNB2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000316874.3 1 0 1 81 294 0 116 1 1 253 159 0 116 2 1 1 84 174 0 381 2 1 1.000000 75 290 0 116 2 0 0 0 0 116 2 -3.826611 1 1 0 0 1 0 1 1 1.439548 1 0.570000 1.860000 0.398601 0.530000 4.300000e-01 0.640000 0.540000 0.543486 0.530000 0 4.800000e-01 0.590000 RBMS1 5937 broad.mit.edu 37 2 161159916 161159916 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:161159916T>C ENST00000348849.3 - 5 915 c.485A>G c.(484-486)aAa>aGa p.K162R RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 PLA2R1/RBMS1(2) TCCAAATGGTTTGAGCATATT 0.413000 0 SO:0001583 missense ENST00000348849.3 1 1 hg19 CCDS2213.1 . . . . . . . . . . T 22.4 4.291114 0.80914 . . ENSG00000153250 ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972 T;T;T;T;T 0.16597 2.33;2.33;2.33;2.33;2.33 5.7 5.7 0.88788 Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3); 0.000000 0.85682 D 0.000000 T 0.29321 0.0730 N 0.25144 0.715 0.80722 D 1 B;B;B;P;B;B;B 0.51449 0.004;0.118;0.009;0.945;0.128;0.002;0.008 B;B;B;D;B;B;B 0.71870 0.02;0.275;0.07;0.975;0.179;0.044;0.131 T 0.04360 -1.0957 10 0.54805 T 0.06 . 15.9541 0.79871 0.0:0.0:0.0:1.0 . 129;28;162;162;28;129;162 D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88 .;.;RBMS1_HUMAN;.;.;.;. R 162;129;129;162;129 ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R ENSP00000294904:K162R K - 2 0 RBMS1 160868162 1.000000 0.71417 1.000000 0.80357 0.992000 0.81027 8.040000 0.89188 2.163000 0.67991 0.533000 0.62120 AAA TCGA-US-A779-01A-11D-A32N-08 RBMS1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255043.4 1 0 1 50 296 0 69 1 5.837977e-01 6 7 0 69 2 0 0 0 0 0 2 1 1.000000 50 290 0 69 2 0 0 0 0 69 2 -19.999680 1 1 0 0 1 0 0 0 2.057654 0 0.570000 1.860000 0.565041 0.490000 3.700000e-01 0.630000 0.500000 0.507226 0.490000 0 4.300000e-01 0.570000 PPP1R1C 151242 broad.mit.edu 37 2 182850872 182850872 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:182850872C>T ENST00000409137.3 + 1 278 c.35C>T c.(34-36)gCc>gTc p.A12V PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V NM_001261424.1|NM_001261425.1 NP_001248353.1|NP_001248354.1 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) ATACAGTTTGCCGTGCCTGTA 0.448000 0 SO:0001583 missense ENST00000409137.3 0 1 hg19 CCDS46468.1 . . . . . . . . . . C 24.7 4.558951 0.86231 . . ENSG00000150722 ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702 T;T;T;T 0.33438 1.41;1.41;1.41;1.41 5.87 5.87 0.94306 . 0.053176 0.85682 D 0.000000 T 0.49304 0.1549 M 0.69823 2.125 0.58432 D 0.99999 P;P 0.48503 0.911;0.834 P;P 0.50896 0.642;0.653 T 0.46857 -0.9161 10 0.72032 D 0.01 -13.2258 20.5827 0.99408 0.0:1.0:0.0:0.0 . 12;12 Q8WVI7-2;Q8WVI7 .;PPR1C_HUMAN V 12 ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V ENSP00000280295:A12V A + 2 0 PPP1R1C 182559117 1.000000 0.71417 1.000000 0.80357 0.702000 0.40608 5.971000 0.70440 2.941000 0.99782 0.655000 0.94253 GCC TCGA-US-A779-01A-11D-A32N-08 PPP1R1C-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334874.1 0 0 0 6 467 0 99 0 0 0 1 0 99 2 0 0 0 0 0 2 1 0.963782 6 461 0 99 2 0 0 0 0 99 2 -2.105576 0 1 0 0 1 0 0 0 2.039556 0 0.570000 1.860000 0.559967 0.040000 0 0.090000 0.040000 0.050447 0.040000 0 2.000000e-02 0.070000 KIF1A 547 broad.mit.edu 37 2 241680688 241680688 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:241680688G>A ENST00000320389.7 - 33 3602 c.3444C>T c.(3442-3444)ggC>ggT p.G1148G KIF1A_ENST00000498729.2_Silent_p.G1249G NM_004321.6 NP_004312.2 Q12756 KIF1A_HUMAN kinesin family member 1A 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) GCACTCACTCGCCGTTGGCCT 0.657000 0 SO:0001819 synonymous_variant ENST00000320389.7 0 0 hg19 CCDS46561.1 . . . . . . . . . . G 12.53 1.964924 0.34659 . . ENSG00000130294 ENST00000431776 . . . 4.44 1.37 0.22104 . . . . . T 0.57125 0.2032 . . . 0.80722 D 1 . . . . . . T 0.47911 -0.9080 4 . . . . 8.8409 0.35142 0.0:0.1298:0.3973:0.4729 . . . . V 72 . . A - 2 0 KIF1A 241329361 0.995000 0.38212 0.978000 0.43139 0.971000 0.66376 0.256000 0.18351 -0.040000 0.13580 0.460000 0.39030 GCG TCGA-US-A779-01A-11D-A32N-08 KIF1A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000324536.3 1 0 1 14 28 0 7 0 5.463796e-01 0 5 0 7 2 0 0 0 0 0 2 1 0.999916 14 28 0 6 2 0 0 0 0 7 2 -20.000000 1 0 0 0 1 0 0 0 2.039556 0 0.570000 1.860000 0.559967 0.990000 7.000000e-01 1.000000 1.000000 0.962822 0.990000 1 9.000000e-01 1.000000 ADRA2B 151 broad.mit.edu 37 2 96780765 96780765 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:96780765C>T ENST00000409345.3 - 1 1219 c.1124G>A c.(1123-1125)gGc>gAc p.G375D NM_000682.5 NP_000673 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 16 Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246) CACAAAAACGCCAATGACCAC 0.622000 0 SO:0001583 missense ENST00000409345.3 1 1 hg19 CCDS56129.1 . . . . . . . . . . C 22.6 4.308310 0.81247 . . ENSG00000222040 ENST00000409345 T 0.38560 1.13 5.61 5.61 0.85477 GPCR, rhodopsin-like superfamily (1); . . . . T 0.81346 0.4803 H 0.99682 4.7 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.89685 0.3893 9 0.87932 D 0 . 17.1963 0.86893 0.0:1.0:0.0:0.0 . 378 P18089 ADA2B_HUMAN D 375 ENSP00000387281:G375D ENSP00000387281:G375D G - 2 0 ADRA2B 96144492 1.000000 0.71417 0.421000 0.26609 0.650000 0.38633 7.810000 0.86072 2.658000 0.90341 0.551000 0.68910 GGC TCGA-US-A779-01A-11D-A32N-08 ADRA2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000334990.1 1 0 1 27 85 0 29 0 6.193745e-02 0 2 0 29 2 0 0 0 0 0 2 1 1.000000 26 82 0 28 2 0 0 0 0 29 2 -20.000000 1 1 0 0 1 0 0 0 2.057654 0 0.570000 1.860000 0.565041 0.830000 5.800000e-01 1.000000 1.000000 0.835738 0.830000 0 7.000000e-01 0.980000 VGLL4 9686 broad.mit.edu 37 3 11643423 11643423 + Silent SNP G G A rs151086238 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:11643423G>A ENST00000430365.2 - 2 561 c.156C>T c.(154-156)acC>acT p.T52T VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000480288.1_5'Flank NM_001128219.1 NP_001121691.1 Q14135 VGLL4_HUMAN vestigial-like family member 4 10 GGGGAGGGCCGGTGCGGTGAC 0.592000 0 SO:0001819 synonymous_variant ENST00000430365.2 0 1 hg19 CCDS46754.1 TCGA-US-A779-01A-11D-A32N-08 VGLL4-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000339133.1 0 0 0 7 466 0 108 0 2.383197e-01 0 55 0 108 2 0 0 0 0 0 2 1 0.980016 6 462 0 105 2 0 0 0 0 108 2 -2.247641 0 1 121412 64 51 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.050000 1.000000e-02 0.110000 0.060000 0.059229 0.050000 0 3.000000e-02 0.080000 ZNF148 7707 broad.mit.edu 37 3 124953158 124953158 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:124953158C>T ENST00000360647.4 - 8 1168 c.683G>A c.(682-684)cGc>cAc p.R228H ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 28 TTCATCACAGCGAAATGGTTT 0.294000 0 SO:0001583 missense ENST00000360647.4 1 1 hg19 CCDS3031.1 . . . . . . . . . . C 11.77 1.738426 0.30774 0.0 1.16E-4 ENSG00000163848 ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574 T;T;T;T;T;T 0.18174 2.23;2.23;2.23;2.23;2.23;2.23 5.32 3.49 0.39957 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.048859 0.85682 D 0.000000 T 0.13243 0.0321 L 0.35644 1.08 0.29133 N 0.879492 B;B 0.12013 0.005;0.001 B;B 0.06405 0.002;0.002 T 0.08027 -1.0742 10 0.44086 T 0.13 0.0288 9.7899 0.40699 0.0:0.786:0.0:0.214 . 36;228 G5E9X2;Q9UQR1 .;ZN148_HUMAN H 228;36;228;23;228;228;228 ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H ENSP00000353863:R228H R - 2 0 ZNF148 126435848 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.648000 0.46647 1.474000 0.48178 0.650000 0.86243 CGC TCGA-US-A779-01A-11D-A32N-08 ZNF148-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355452.4 1 0 1 58 288 0 70 0 2.026913e-01 0 5 0 70 2 0 0 0 0 0 2 1 1.000000 58 284 0 69 2 0 0 0 0 70 2 -20.000000 1 1 0 0 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.580000 4.500000e-01 0.740000 0.590000 0.595282 0.580000 0 5.100000e-01 0.670000 RFTN1 23180 broad.mit.edu 37 3 16475456 16475456 + Silent SNP C C T rs144679139 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:16475456C>T ENST00000334133.4 - 3 506 c.234G>A c.(232-234)tcG>tcA p.S78S RFTN1_ENST00000432519.1_Silent_p.S42S NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 38 GGGCCGCCAGCGAGAAGCCCT 0.647000 0 SO:0001819 synonymous_variant ENST00000334133.4 0 1 hg19 CCDS33712.1 TCGA-US-A779-01A-11D-A32N-08 RFTN1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000346908.1 0 0 0 13 503 0 107 0 4.496843e-03 0 4 0 107 2 0 0 0 0 0 2 1 0.999512 13 498 0 106 2 0 0 0 0 107 2 -11.139930 1 1 0 0 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.080000 4.000000e-02 0.150000 0.090000 0.094968 0.080000 0 6.000000e-02 0.120000 PLCD1 5333 broad.mit.edu 37 3 38049624 38049624 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:38049624G>A ENST00000334661.4 - 14 2288 c.2066C>T c.(2065-2067)gCg>gTg p.A689V PLCD1_ENST00000463876.1_Missense_Mutation_p.A710V NM_006225.3 NP_006216.2 P51178 PLCD1_HUMAN phospholipase C, delta 1 24 TACCTCAAACGCAAACTCCGT 0.557000 0 SO:0001583 missense ENST00000334661.4 0 1 hg19 CCDS2671.1 . . . . . . . . . . G 8.511 0.866463 0.17250 . . ENSG00000187091 ENST00000463876;ENST00000334661 T;T 0.68181 -0.31;-0.31 5.15 4.0 0.46444 C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1); 0.475525 0.25677 N 0.029024 T 0.31702 0.0805 N 0.00525 -1.395 0.22648 N 0.998895 B;B 0.12013 0.005;0.003 B;B 0.08055 0.001;0.003 T 0.21143 -1.0254 10 0.23302 T 0.38 . 11.6796 0.51451 0.0:0.0:0.2929:0.7071 . 689;710 P51178;B3KR14 PLCD1_HUMAN;. V 710;689 ENSP00000430344:A710V;ENSP00000335600:A689V ENSP00000335600:A689V A - 2 0 PLCD1 38024628 0.000000 0.05858 0.989000 0.46669 0.071000 0.16799 0.102000 0.15272 0.932000 0.37266 -0.397000 0.06425 GCG TCGA-US-A779-01A-11D-A32N-08 PLCD1-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000253359.2 0 0 0 5 434 0 95 0 1.957615e-01 0 59 0 95 2 0 0 0 0 0 2 1 0.937125 5 432 0 95 2 0 0 0 0 95 2 -2.522111 1 1 121412 1 40 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.040000 0 0.090000 0.040000 0.047594 0.040000 0 2.000000e-02 0.070000 RYBP 23429 broad.mit.edu 37 3 72428210 72428210 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:72428210C>A ENST00000477973.2 - 3 679 c.680G>T c.(679-681)cGa>cTa p.R227L NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) TGATTTGTTTCGCTGGTCTTT 0.393000 0 SO:0001583 missense ENST00000477973.2 0 0 hg19 . . . . . . . . . . C 21.7 4.191335 0.78902 . . ENSG00000163602 ENST00000477973 . . . 6.17 6.17 0.99709 . . . . . T 0.65749 0.2721 . . . . . . . . . . . . T 0.68044 -0.5513 3 . . . -29.6366 13.9957 0.64397 0.0:0.9315:0.0:0.0685 . . . . L 227 . . R - 2 0 RYBP 72510900 1.000000 0.71417 1.000000 0.80357 0.967000 0.64934 5.592000 0.67543 2.941000 0.99782 0.655000 0.94253 CGA TCGA-US-A779-01A-11D-A32N-08 RYBP-001 KNOWN mRNA_start_NF|cds_start_NF|basic|appris_principal protein_coding protein_coding OTTHUMT00000353762.3 1 0 1 63 151 0 55 1 9.444030e-01 4 10 0 55 2 0 0 0 0 0 2 1 1.000000 63 150 0 55 2 0 0 0 0 55 2 -6.696900 1 1 0 0 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.990000 8.200000e-01 1.000000 1.000000 0.973549 0.990000 1 9.200000e-01 1.000000 PDZRN3 23024 broad.mit.edu 37 3 73440202 73440202 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:73440202G>A ENST00000263666.4 - 6 1434 c.1320C>T c.(1318-1320)gaC>gaT p.D440D PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000462146.2_Silent_p.D97D NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) CGTCTTCATCGTCCGTCCGGT 0.443000 0 SO:0001819 synonymous_variant ENST00000263666.4 1 1 hg19 CCDS33789.1 . . . . . . . . . . G 8.064 0.768692 0.15983 . . ENSG00000121440 ENST00000494559 . . . 5.18 -9.21 0.00678 . . . . . T 0.66327 0.2778 . . . 0.80722 D 1 . . . . . . T 0.74100 -0.3774 4 . . . . 20.3542 0.98835 0.8963:0.0:0.1037:0.0 . . . . M 37 . . T - 2 0 PDZRN3 73522892 0.432000 0.25554 0.086000 0.20670 0.897000 0.52465 -0.105000 0.10907 -1.917000 0.01074 -0.880000 0.02959 ACG TCGA-US-A779-01A-11D-A32N-08 PDZRN3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000352460.1 0 0 0 27 837 0 164 0 1.081481e-03 0 2 0 164 2 0 0 0 0 0 2 1 1.000000 26 823 0 163 2 0 0 0 0 164 2 -2.907811 1 1 121412 12 48 1 1 2 3 2.100008 0 0.570000 1.860000 0.571222 0.100000 6.000000e-02 0.160000 0.110000 0.113674 0.100000 0 8.000000e-02 0.140000 PHF17 0 broad.mit.edu 37 4 129783124 129783124 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:129783124G>A ENST00000226319.6 + 9 1527 c.1247G>A c.(1246-1248)cGt>cAt p.R416H PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H NM_199320.2 NP_955352.1 29 GTGAGTGTCCGTAAGCAGAAG 0.607000 0 SO:0001583 missense ENST00000226319.6 0 1 hg19 CCDS34062.1 . . . . . . . . . . G 16.81 3.224990 0.58668 . . ENSG00000077684 ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543 T;T;T;T;T 0.49139 0.88;0.79;0.88;0.88;0.79 5.01 4.17 0.49024 . 0.000000 0.85682 D 0.000000 T 0.69628 0.3132 M 0.82517 2.595 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.91635 0.999;0.999;0.998 T 0.73830 -0.3859 9 . . . . 13.6817 0.62489 0.0745:0.0:0.9255:0.0 . 404;416;416 Q6IE81-2;Q6IE81;Q6IE81-3 .;JADE1_HUMAN;. H 416;416;404;416;416;416 ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H . R + 2 0 PHF17 130002574 1.000000 0.71417 0.821000 0.32701 0.166000 0.22503 8.901000 0.92560 1.346000 0.45694 -0.150000 0.13652 CGT TCGA-US-A779-01A-11D-A32N-08 PHF17-201 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000364280.1 0 0 0 6 499 1 103 0 3.653600e-02 0 21 1 103 2 0 0 0 0 0 2 0 0.014118 7 487 1 103 17 0 0 0 1 103 2 -2.231350 0 1 121412 3 35 1 1 2 3 2.112040 0 0.570000 1.860000 0.572437 0.040000 0 0.100000 0.040000 0.057919 0.040000 0 2.000000e-02 0.070000 RGS12 6002 broad.mit.edu 37 4 3318330 3318330 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:3318330G>A ENST00000344733.5 + 2 1337 c.433G>A c.(433-435)Gga>Aga p.G145R RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000336727.3_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R NM_198229.2 NP_937872.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 43 GCAGTCTGGTGGAATTTTCAA 0.468000 0 SO:0001583 missense ENST00000344733.5 1 1 hg19 CCDS3366.1 . . . . . . . . . . G 21.8 4.196311 0.78902 . . ENSG00000159788 ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788 T;T;T;T 0.37058 1.22;1.27;1.28;1.28 4.72 4.72 0.59763 . 0.000000 0.85682 D 0.000000 T 0.61924 0.2386 M 0.77820 2.39 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.81914 0.994;0.987;0.995 T 0.67960 -0.5535 10 0.72032 D 0.01 -22.7391 16.6763 0.85280 0.0:0.0:1.0:0.0 . 145;145;145 Q8WX97;O14924;O14924-4 .;RGS12_HUMAN;. R 145 ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R ENSP00000338509:G145R G + 1 0 RGS12 3288128 1.000000 0.71417 0.077000 0.20336 0.902000 0.53008 7.324000 0.79115 2.176000 0.68965 0.491000 0.48974 GGA TCGA-US-A779-01A-11D-A32N-08 RGS12-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000206602.1 1 0 1 104 285 0 76 0 7.261600e-02 1 1 0 76 2 0 0 0 0 0 2 1 1.000000 102 281 0 76 2 0 0 0 0 76 2 -6.547642 1 1 0 0 1 1 2 3 2.112040 0 0.570000 1.860000 0.572437 0.940000 7.800000e-01 1.000000 1.000000 0.934538 0.940000 1 8.600000e-01 1.000000 PPP2R2C 5522 broad.mit.edu 37 4 6380234 6380234 + Silent SNP C C T rs147944662 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:6380234C>T ENST00000382599.4 - 3 450 c.234G>A c.(232-234)ccG>ccA p.P78P PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000335585.5_Silent_p.P78P Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 28 AGTCAAACTCCGGCTCGTGGC 0.572000 0 SO:0001819 synonymous_variant ENST00000382599.4 0 1 hg19 TCGA-US-A779-01A-11D-A32N-08 PPP2R2C-001 NOVEL overlapping_uORF|basic|appris_principal protein_coding protein_coding OTTHUMT00000206889.2 0 0 0 13 600 0 127 0 7.757388e-03 0 6 0 127 2 0 0 0 0 0 2 1 0.999522 12 598 0 126 2 0 0 0 0 127 2 -2.329434 0 1 121412 13 46 1 1 2 3 2.112040 0 0.570000 1.860000 0.572437 0.070000 3.000000e-02 0.130000 0.080000 0.089242 0.070000 0 5.000000e-02 0.100000 MMRN1 22915 broad.mit.edu 37 4 90872802 90872802 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:90872802G>A ENST00000394980.1 + 8 3484 c.3165G>A c.(3163-3165)acG>acA p.T1055T MMRN1_ENST00000394981.1_Silent_p.T358T|MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T Q13201 MMRN1_HUMAN multimerin 1 72 Hepatocellular(203;0.114) ATGGGGGCACGTGCATAAATG 0.433000 0 SO:0001819 synonymous_variant ENST00000394980.1 1 1 hg19 CCDS3635.1 TCGA-US-A779-01A-11D-A32N-08 MMRN1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000253546.2 1 0 1 95 178 0 39 0 7.612792e-01 0 7 0 39 2 0 0 0 0 0 2 1 1.000000 95 176 0 38 2 0 0 0 0 39 2 -11.634040 1 1 121396 3 36 1 1 2 3 2.112040 0 0.570000 1.860000 0.572437 0.990000 9.900000e-01 1.000000 1.000000 0.999680 0.990000 1 9.900000e-01 1.000000 CMYA5 202333 broad.mit.edu 37 5 79026738 79026738 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:79026738G>A ENST00000446378.2 + 2 2181 c.2150G>A c.(2149-2151)cGt>cAt p.R717H NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) ACAATTGACCGTAAGTCCCCG 0.448000 0 SO:0001583 missense ENST00000446378.2 0 1 hg19 CCDS47238.1 . . . . . . . . . . g 8.935 0.964478 0.18583 . . ENSG00000164309 ENST00000446378 T 0.46451 0.87 5.56 -11.1 0.00147 . 1.948280 0.02137 N 0.056869 T 0.08179 0.0204 N 0.00237 -1.79 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.38394 -0.9663 10 0.30078 T 0.28 . 1.3491 0.02169 0.16:0.331:0.2504:0.2586 . 717 Q8N3K9 CMYA5_HUMAN H 717 ENSP00000394770:R717H ENSP00000394770:R717H R + 2 0 CMYA5 79062494 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.582000 0.02117 -2.338000 0.00627 -1.007000 0.02485 CGT TCGA-US-A779-01A-11D-A32N-08 CMYA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369497.1 0 0 0 4 197 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 0.891217 4 197 0 54 2 0 0 0 0 55 2 -3.010015 1 1 120868 5 38 1 0 1 1 1.593299 1 0.570000 1.860000 0.432531 0.050000 1.000000e-02 0.130000 0.050000 0.065064 0.050000 0 3.000000e-02 0.090000 NR2F1 7025 broad.mit.edu 37 5 92921011 92921011 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:92921011C>T ENST00000327111.3 + 1 1969 c.282C>T c.(280-282)agC>agT p.S94S NR2F1-AS1_ENST00000513055.1_RNA NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) ACAAGTCGAGCGGCAAGCACT 0.642000 0 SO:0001819 synonymous_variant ENST00000327111.3 0 1 hg19 CCDS4068.1 TCGA-US-A779-01A-11D-A32N-08 NR2F1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000239293.2 0 0 0 4 51 0 21 0 7.128013e-02 0 5 0 21 2 0 0 0 0 0 2 1 0.888536 4 50 0 21 2 0 0 0 0 21 2 -8.529821 1 1 0 0 1 0 1 1 1.593299 1 0.570000 1.860000 0.432531 0.200000 7.000000e-02 0.430000 0.190000 0.227761 0.200000 0 1.200000e-01 0.320000 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) TGGTTTCGCCGCAAATGGCAA 0.433000 0 SO:0001583 missense ENST00000344419.3 0 1 hg19 CCDS5227.1 . . . . . . . . . . g 5.689 0.311597 0.10789 2.27E-4 0.0 ENSG00000009765 ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615 T;T;T;T;T;T 0.76578 -1.03;-1.03;-1.03;-1.03;-1.03;-1.03 6.17 2.1 0.27182 Nitroreductase-like (3); 0.509560 0.22264 N 0.062376 T 0.43055 0.1230 L 0.46885 1.475 0.09310 N 1 B;B;B;B 0.20261 0.004;0.043;0.001;0.002 B;B;B;B 0.18561 0.003;0.022;0.001;0.005 T 0.24548 -1.0157 10 0.27785 T 0.31 -23.7178 1.2452 0.01971 0.2372:0.2256:0.3896:0.1475 . 121;203;203;203 Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0 .;.;.;IYD1_HUMAN T 203;203;203;203;203;148 ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T ENSP00000229447:A203T A + 1 0 IYD 150757004 0.019000 0.18553 0.001000 0.08648 0.174000 0.22865 0.255000 0.18333 0.496000 0.27904 -0.119000 0.15052 GCA TCGA-US-A779-01A-11D-A32N-08 IYD-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043754.3 0 0 0 5 299 0 75 0 5.741988e-02 0 19 0 75 2 0 0 0 0 0 2 1 0.938043 5 299 0 74 2 0 0 0 0 75 2 -2.001450 0 1 121412 3 38 1 0 1 1 1.677508 1 0.570000 1.860000 0.443005 0.040000 1.000000e-02 0.100000 0.050000 0.052904 0.040000 0 2.000000e-02 0.070000 ZNF184 7738 broad.mit.edu 37 6 27420760 27420760 + Missense_Mutation SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:27420760A>T ENST00000211936.6 - 6 862 c.578T>A c.(577-579)cTt>cAt p.L193H ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 48 TTGTGTTACAAGGTTTGAACT 0.368000 0 SO:0001583 missense ENST00000211936.6 1 1 hg19 CCDS4624.1 . . . . . . . . . . A 16.80 3.222112 0.58560 . . ENSG00000096654 ENST00000211936;ENST00000377419;ENST00000341087 T;T 0.08370 3.1;3.1 5.32 0.257 0.15574 . 0.879076 0.09630 N 0.776357 T 0.06371 0.0164 M 0.91300 3.195 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.31888 -0.9927 10 0.54805 T 0.06 . 7.6793 0.28505 0.642:0.0:0.358:0.0 . 193 Q99676 ZN184_HUMAN H 193 ENSP00000211936:L193H;ENSP00000366636:L193H ENSP00000211936:L193H L - 2 0 ZNF184 27528739 0.003000 0.15002 0.002000 0.10522 0.577000 0.36160 1.919000 0.40015 0.147000 0.19030 0.454000 0.30748 CTT TCGA-US-A779-01A-11D-A32N-08 ZNF184-201 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040146.1 1 0 1 73 566 0 141 1 1.898061e-01 2 5 0 141 2 0 0 0 0 0 2 1 1.000000 72 560 0 138 2 0 0 0 0 141 2 -20.000000 1 1 0 0 1 0 1 1 1.601799 1 0.570000 1.860000 0.445054 0.300000 2.400000e-01 0.380000 0.310000 0.313255 0.300000 0 2.700000e-01 0.350000 C4A 720 broad.mit.edu 37 6 31964274 31964274 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:31964274C>T ENST00000428956.2 + 28 3657 c.3573C>T c.(3571-3573)caC>caT p.H1191H C4A_ENST00000498271.1_Silent_p.H1191H NM_007293.2 NP_009224.2 P0C0L4 CO4A_HUMAN complement component 4A (Rodgers blood group) Intravenous Immunoglobulin(DB00028) TGGGTGCCCACGCAGCTGCCA 0.592000 0 SO:0001819 synonymous_variant ENST00000428956.2 1 1 hg19 CCDS47404.1 TCGA-US-A779-01A-11D-A32N-08 C4A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000076364.3 0 0 0 18 517 0 158 0 5.422706e-01 0 52 0 158 2 0 0 0 0 0 2 1 0.999976 18 498 0 172 2 0 0 0 0 158 2 -16.110340 1 0 120696 7 40 1 0 0 0 2.009721 0 0.570000 1.860000 0.544008 0.100000 6.000000e-02 0.170000 0.110000 0.116895 0.100000 0 8.000000e-02 0.140000 FAM3C 10447 broad.mit.edu 37 7 120991269 120991269 + Silent SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:120991269A>T ENST00000359943.3 - 9 735 c.522T>A c.(520-522)acT>acA p.T174T NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 9 all_neural(327;0.117) AACCAAGATTAGTAATAGATG 0.428000 0 SO:0001819 synonymous_variant ENST00000359943.3 1 1 hg19 CCDS5782.1 TCGA-US-A779-01A-11D-A32N-08 FAM3C-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000346945.1 1 0 1 51 190 0 47 1 9.993122e-01 18 26 0 47 2 0 0 0 0 0 2 1 1.000000 51 188 0 48 2 0 0 0 0 47 2 -20.000000 1 1 0 0 1 1 2 3 2.102114 0 0.570000 1.860000 0.571222 0.740000 5.700000e-01 0.940000 0.740000 0.750470 0.740000 0 6.500000e-01 0.840000 CNTNAP2 26047 broad.mit.edu 37 7 147600759 147600759 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:147600759G>A ENST00000361727.3 + 14 2717 c.2201G>A c.(2200-2202)cGc>cAc p.R734H NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCATCGAACGCAACTGCACA 0.582000 HNSCC(39;0.1) 0 SO:0001583 missense ENST00000361727.3 0 1 hg19 CCDS5889.1 . . . . . . . . . . G 16.43 3.119856 0.56613 . . ENSG00000174469 ENST00000361727;ENST00000455301 T;T 0.09723 2.95;2.95 5.7 5.7 0.88788 . 0.066576 0.64402 D 0.000013 T 0.12092 0.0294 L 0.38838 1.175 0.80722 D 1 B 0.17268 0.021 B 0.11329 0.006 T 0.05683 -1.0870 10 0.41790 T 0.15 . 18.4119 0.90554 0.0:0.0:1.0:0.0 . 734 Q9UHC6 CNTP2_HUMAN H 734;125 ENSP00000354778:R734H;ENSP00000392208:R125H ENSP00000354778:R734H R + 2 0 CNTNAP2 147231692 0.993000 0.37304 0.913000 0.36048 0.923000 0.55619 4.880000 0.63107 2.700000 0.92200 0.563000 0.77884 CGC TCGA-US-A779-01A-11D-A32N-08 CNTNAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000327668.1 0 0 0 4 118 0 29 0 0 0 0 29 2 0 0 0 0 0 2 1 0.889673 4 117 0 29 2 0 0 0 0 29 2 -6.706039 1 1 0 0 1 1 2 3 2.091234 0 0.570000 1.860000 0.571222 0.120000 3.000000e-02 0.280000 0.120000 0.141018 0.120000 0 7.000000e-02 0.200000 VWC2 375567 broad.mit.edu 37 7 49815696 49815696 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:49815696G>A ENST00000340652.4 + 2 1221 c.665G>A c.(664-666)gGc>gAc p.G222D NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 8 GAGTTCCGGGGCAAGACCTAT 0.617000 0 SO:0001583 missense ENST00000340652.4 0 1 hg19 CCDS5508.1 . . . . . . . . . . G 22.8 4.334557 0.81801 . . ENSG00000188730 ENST00000340652 T 0.72615 -0.67 4.84 3.95 0.45737 von Willebrand factor, type C (3); 0.062437 0.64402 D 0.000006 T 0.78641 0.4315 M 0.66939 2.045 0.53005 D 0.999969 P 0.47962 0.903 P 0.57502 0.822 T 0.80425 -0.1388 10 0.59425 D 0.04 . 12.8246 0.57712 0.0796:0.0:0.9204:0.0 . 222 Q2TAL6 VWC2_HUMAN D 222 ENSP00000341819:G222D ENSP00000341819:G222D G + 2 0 VWC2 49786242 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 6.650000 0.74368 2.383000 0.81215 0.561000 0.74099 GGC TCGA-US-A779-01A-11D-A32N-08 VWC2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251375.2 1 0 0 7 19 0 8 0 0 0 0 8 2 0 0 0 0 0 2 1 0.985917 7 19 0 8 2 0 0 0 0 8 2 -16.875490 1 1 0 0 1 1 2 3 2.090908 0 0.570000 1.860000 0.571222 0.950000 4.600000e-01 1.000000 1.000000 0.873084 0.950000 1 6.800000e-01 1.000000 WBSCR17 64409 broad.mit.edu 37 7 70853388 70853388 + Splice_Site SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:70853388G>T ENST00000333538.5 + 3 1223 c.e3+1 WBSCR17_ENST00000498380.2_Splice_Site NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGCGACGAAGGTACAGGGGTG 0.582000 0 SO:0001630 splice_region_variant ENST00000333538.5 0 1 hg19 CCDS5540.1 . . . . . . . . . . G 13.92 2.379837 0.42207 . . ENSG00000185274 ENST00000333538;ENST00000447516 . . . 5.58 5.58 0.84498 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.9334 0.92576 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . WBSCR17 70491324 1.000000 0.71417 1.000000 0.80357 0.044000 0.14063 9.588000 0.98232 2.782000 0.95742 0.655000 0.94253 . TCGA-US-A779-01A-11D-A32N-08 WBSCR17-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252006.1 0 0 0 5 215 0 43 0 0 0 0 43 2 0 0 0 0 0 2 0 0.933621 1 213 0 42 2 0 0 0 0 43 2 -6.570489 1 0 0 0 1 1 2 3 2.090908 0 0.570000 1.860000 0.571222 0.080000 2.000000e-02 0.180000 0.080000 0.094784 0.080000 0 5.000000e-02 0.130000 SEMA3D 223117 broad.mit.edu 37 7 84642125 84642125 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:84642125T>C ENST00000284136.6 - 15 1784 c.1741A>G c.(1741-1743)Atc>Gtc p.I581V SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 73 CACTGGGTGATTGGGTCGCCA 0.393000 Ovarian(63;442 1191 17318 29975 31528) 0 SO:0001583 missense ENST00000284136.6 0 1 hg19 CCDS34676.1 . . . . . . . . . . T 4.555 0.102996 0.08731 . . ENSG00000153993 ENST00000284136 T 0.20881 2.04 5.93 5.93 0.95920 . 0.228496 0.49305 D 0.000147 T 0.08935 0.0221 N 0.10733 0.035 0.80722 D 1 B 0.02656 0.0 B 0.01281 0.0 T 0.32824 -0.9892 10 0.15499 T 0.54 . 5.1256 0.14882 0.0:0.1083:0.1805:0.7112 . 581 O95025 SEM3D_HUMAN V 581 ENSP00000284136:I581V ENSP00000284136:I581V I - 1 0 SEMA3D 84480061 0.744000 0.28250 0.998000 0.56505 0.601000 0.36947 1.112000 0.31172 2.265000 0.75225 0.533000 0.62120 ATC TCGA-US-A779-01A-11D-A32N-08 SEMA3D-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000336084.2 0 0 0 7 308 0 62 0 0 0 0 62 2 0 0 0 0 0 2 1 0.979783 7 303 0 60 2 0 0 0 0 62 2 -7.850361 1 1 0 0 1 1 2 3 2.090908 0 0.570000 1.860000 0.571222 0.080000 3.000000e-02 0.160000 0.080000 0.088598 0.080000 0 5.000000e-02 0.120000 CSMD3 114788 broad.mit.edu 37 8 113697844 113697844 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:113697844C>T ENST00000297405.5 - 15 2517 c.2273G>A c.(2272-2274)cGg>cAg p.R758Q CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 p.R758Q(1) 646 AAGATGTATCCGGCTCCCTGG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 1 Substitution - Missense(1) SO:0001583 missense ENST00000297405.5 1 1 hg19 CCDS6315.1 . . . . . . . . . . C 25.1 4.606831 0.87157 . . ENSG00000164796 ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409 T;T;T;T;T 0.17528 2.27;2.27;2.27;2.27;2.27 5.96 5.96 0.96718 CUB (5); 0.000000 0.64402 D 0.000002 T 0.40297 0.1111 L 0.56199 1.76 0.43145 D 0.994906 D;D;D 0.89917 0.999;0.999;1.0 D;D;D 0.91635 0.994;0.998;0.999 T 0.00970 -1.1496 10 0.34782 T 0.22 . 20.4008 0.98991 0.0:1.0:0.0:0.0 . 654;758;718 Q7Z407-3;Q7Z407;Q7Z407-2 .;CSMD3_HUMAN;. Q 718;758;98;654;758 ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q ENSP00000297405:R758Q R - 2 0 CSMD3 113767020 1.000000 0.71417 0.996000 0.52242 0.980000 0.70556 7.818000 0.86416 2.826000 0.97356 0.655000 0.94253 CGG TCGA-US-A779-01A-11D-A32N-08 CSMD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000347141.1 1 0 1 77 355 1 90 0 0 0 1 90 2 0 0 0 0 0 2 1 1.000000 76 353 1 89 17 0 0 0 1 90 2 -2.553247 1 1 0 0 1 0 0 0 2.085231 0 0.570000 1.860000 0.570000 0.620000 5.000000e-01 0.750000 0.620000 0.629503 0.620000 0 5.500000e-01 0.690000 RAD21 5885 broad.mit.edu 37 8 117869572 117869572 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:117869572G>A ENST00000297338.2 - 6 909 c.622C>T c.(622-624)Cat>Tat p.H208Y RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TATTCTAAATGGTTAATTTTC 0.358000 0 SO:0001583 missense ENST00000297338.2 1 1 hg19 CCDS6321.1 . . . . . . . . . . G 17.72 3.458476 0.63401 . . ENSG00000164754 ENST00000297338;ENST00000520992;ENST00000517485 T;T;T 0.53857 0.6;1.51;1.51 5.48 5.48 0.80851 . 0.000000 0.85682 D 0.000000 T 0.60702 0.2289 M 0.62723 1.935 0.80722 D 1 D 0.54207 0.965 P 0.47827 0.558 T 0.63225 -0.6685 10 0.52906 T 0.07 -17.6597 19.717 0.96124 0.0:0.0:1.0:0.0 . 208 O60216 RAD21_HUMAN Y 208 ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y ENSP00000297338:H208Y H - 1 0 RAD21 117938753 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 9.161000 0.94739 2.734000 0.93682 0.563000 0.77884 CAT TCGA-US-A779-01A-11D-A32N-08 RAD21-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381184.1 1 0 1 58 190 0 49 1 9.962710e-01 12 19 0 49 2 0 0 0 0 0 2 1 1.000000 57 189 0 49 2 0 0 0 0 49 2 -4.384192 1 1 0 0 1 0 0 0 2.085231 0 0.570000 1.860000 0.570000 0.810000 6.400000e-01 1.000000 0.820000 0.824074 0.810000 0 7.200000e-01 0.920000 ZFAT 57623 broad.mit.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:135614834C>T ENST00000377838.3 - 6 1302 c.1128G>A c.(1126-1128)gcG>gcA p.A376A ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGGTCATGCGCGTCTCGGA 0.552000 0 SO:0001819 synonymous_variant ENST00000377838.3 0 1 hg19 CCDS47924.1 TCGA-US-A779-01A-11D-A32N-08 ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378272.1 0 0 0 7 651 1 84 0 1.601149e-03 0 5 1 84 2 0 0 0 0 0 2 0 0.001391 7 647 1 84 24 0 0 0 1 84 2 -2.068181 0 1 121082 2 34 1 1 4 5 3.369021 1 0.570000 1.860000 0.735246 0.070000 1.000000e-02 1.000000 0.070000 0.243510 0.070000 0 3.000000e-02 1.000000 BMP1 649 broad.mit.edu 37 8 22064900 22064900 + Missense_Mutation SNP C C T rs150161793 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:22064900C>T ENST00000306385.5 + 18 3116 c.2446C>T c.(2446-2448)Ccc>Tcc p.P816S BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 30 CGCCAAGGCCCCCGTCCTCGG 0.627000 0 SO:0001583 missense ENST00000306385.5 1 1 hg19 CCDS6026.1 . . . . . . . . . . C 19.98 3.927502 0.73327 . . ENSG00000168487 ENST00000306385 T 0.30182 1.54 5.26 4.38 0.52667 CUB (5); 0.412825 0.17745 U 0.163437 T 0.34193 0.0889 L 0.48986 1.54 0.80722 D 1 B 0.23540 0.087 B 0.33690 0.168 T 0.08166 -1.0735 10 0.33141 T 0.24 . 14.7938 0.69863 0.0:0.8544:0.1456:0.0 . 816 P13497 BMP1_HUMAN S 816 ENSP00000305714:P816S ENSP00000305714:P816S P + 1 0 BMP1 22120845 0.989000 0.36119 0.182000 0.23118 0.911000 0.54048 4.070000 0.57548 1.204000 0.43247 0.561000 0.74099 CCC TCGA-US-A779-01A-11D-A32N-08 BMP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214995.2 1 0 1 126 471 0 141 1 9.955004e-01 8 25 0 141 2 0 0 0 0 0 2 1 1.000000 125 467 0 141 2 0 0 0 0 141 2 -3.940958 1 1 121410 21 47 1 0 0 0 2.085231 0 0.570000 1.860000 0.570000 0.730000 6.200000e-01 0.850000 0.740000 0.742986 0.730000 0 6.700000e-01 0.800000 ALG13 79868 broad.mit.edu 37 X 110980099 110980099 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:110980099G>A ENST00000394780.3 + 23 2699 c.2687G>A c.(2686-2688)gGc>gAc p.G896D ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 13 CCTACACACGGCAGGCCAGGT 0.433000 0 SO:0001583 missense ENST00000394780.3 0 1 hg19 CCDS55477.1 . . . . . . . . . . G 12.12 1.841823 0.32513 . . ENSG00000101901 ENST00000251943;ENST00000394780;ENST00000436609 T;T 0.33865 1.39;3.01 5.49 2.7 0.31948 . 0.548871 0.20332 N 0.094419 T 0.48150 0.1484 L 0.58101 1.795 0.09310 N 1 B;B;D 0.67145 0.082;0.049;0.996 B;B;P 0.62184 0.04;0.018;0.899 T 0.33085 -0.9882 10 0.28530 T 0.3 1.5933 10.6013 0.45369 0.2322:0.0:0.7678:0.0 . 818;896;792 Q9NP73-3;Q9NP73;Q9NP73-4 .;ALG13_HUMAN;. D 792;896;529 ENSP00000251943:G792D;ENSP00000378260:G896D ENSP00000251943:G792D G + 2 0 ALG13 110866755 0.055000 0.20627 0.049000 0.19019 0.885000 0.51271 0.494000 0.22467 0.596000 0.29794 0.600000 0.82982 GGC TCGA-US-A779-01A-11D-A32N-08 ALG13-011 PUTATIVE basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000272895.1 0 0 0 6 820 0 140 0 4.195645e-03 0 11 0 140 2 0 0 0 0 0 2 1 0.963970 7 811 0 138 2 0 0 0 0 140 2 -2.148112 0 1 0 0 1 0 1 1 0.570000 1.860000 0.570000 0.020000 0 0.060000 0.020000 0.028478 0.020000 0 0 0.040000 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:17770059C>T ENST00000380041.3 + 7 1156 c.828C>T c.(826-828)tgC>tgT p.C276C SCML1_ENST00000380043.3_Silent_p.C249C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C NM_001037540.1 NP_001032629.1 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 0 SO:0001819 synonymous_variant ENST00000380041.3 0 1 hg19 CCDS35210.1 TCGA-US-A779-01A-11D-A32N-08 SCML1-006 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000060495.5 0 0 0 7 1381 0 294 0 7.634997e-04 0 7 0 294 2 0 0 0 0 0 2 1 0.979585 7 1362 0 289 2 0 0 0 0 294 2 -1.744626 0 1 0 0 1 0 1 1 0.570000 1.860000 0.570000 0.010000 0 0.040000 0.020000 0.020859 0.010000 0 0 0.030000 BEND2 139105 broad.mit.edu 37 X 18183254 18183254 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:18183254G>A ENST00000380033.4 - 14 2407 c.2275C>T c.(2275-2277)Cgt>Tgt p.R759C NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 49 CTAAGGCTACGGATACCGCTG 0.517000 0 SO:0001583 missense ENST00000380033.4 1 1 hg19 CCDS14184.1 . . . . . . . . . . G 15.59 2.879159 0.51801 . . ENSG00000177324 ENST00000380033 T 0.52295 0.67 5.69 1.73 0.24493 BEN domain (2); 0.351432 0.26065 N 0.026542 T 0.34774 0.0909 L 0.52759 1.655 0.09310 N 1 D 0.53151 0.958 B 0.39027 0.288 T 0.32719 -0.9896 10 0.87932 D 0 -1.0766 5.6482 0.17602 0.2622:0.138:0.5998:0.0 . 759 Q8NDZ0 BEND2_HUMAN C 759 ENSP00000369372:R759C ENSP00000369372:R759C R - 1 0 BEND2 18093175 0.107000 0.21998 0.000000 0.03702 0.028000 0.11728 0.794000 0.26958 -0.077000 0.12752 -0.268000 0.10319 CGT TCGA-US-A779-01A-11D-A32N-08 BEND2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055940.1 1 0 1 215 731 0 227 0 0 0 0 227 2 0 0 0 0 0 2 1 1.000000 215 722 1 227 15 0 0 0 0 227 2 -4.407056 1 1 0 0 1 0 1 1 0.570000 1.860000 0.570000 0.790000 7.000000e-01 0.890000 0.800000 0.798826 0.790000 0 7.400000e-01 0.850000 USP51 158880 broad.mit.edu 37 X 55515068 55515068 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:55515068C>T ENST00000500968.3 - 2 387 c.305G>A c.(304-306)cGc>cAc p.R102H USP51_ENST00000586165.1_Intron NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 30 gcggggCTTGCGGCGCGGGCA 0.761000 0 SO:0001583 missense ENST00000500968.3 0 1 hg19 CCDS14370.1 . . . . . . . . . . . 10.19 1.283264 0.23392 . . ENSG00000247746 ENST00000500968 T 0.10192 2.9 2.65 1.75 0.24633 . 0.980712 0.08228 U 0.978061 T 0.10252 0.0251 N 0.24115 0.695 0.26858 N 0.968015 P 0.52170 0.951 P 0.47044 0.535 T 0.29912 -0.9996 10 0.87932 D 0 . 6.2296 0.20728 0.2943:0.7057:0.0:0.0 . 102 Q70EK9 UBP51_HUMAN H 102 ENSP00000423333:R102H ENSP00000423333:R102H R - 2 0 USP51 55531793 0.994000 0.37717 0.972000 0.41901 0.020000 0.10135 0.821000 0.27338 0.514000 0.28300 0.502000 0.49764 CGC TCGA-US-A779-01A-11D-A32N-08 USP51-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056871.2 0 0 0 4 76 0 16 0 0 0 1 0 16 2 0 0 0 0 0 2 1 0.892146 4 76 0 16 2 0 0 0 0 16 2 -7.929337 1 1 0 0 1 0 1 1 0.570000 1.860000 0.570000 0.190000 6.000000e-02 0.400000 0.180000 0.211941 0.190000 0 1.100000e-01 0.300000 TAF1 6872 broad.mit.edu 37 X 70603864 70603864 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:70603864G>A ENST00000373790.4 + 13 2048 c.1997G>A c.(1996-1998)cGc>cAc p.R666H TAF1_ENST00000276072.3_Missense_Mutation_p.R687H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000449580.1_Missense_Mutation_p.R666H NM_004606.3|NM_138923.2 NP_004597.2|NP_620278.1 P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 124 Renal(35;0.156) all_lung(315;0.000321) TTTTTTATGCGCACACCTCAG 0.453000 0 SO:0001583 missense ENST00000373790.4 0 1 hg19 CCDS35325.1 . . . . . . . . . . . 32 5.171413 0.94807 . . ENSG00000147133 ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072 T;T;T;T 0.10960 2.82;2.89;2.87;2.82 5.88 5.88 0.94601 Transcription initiation factor TFIID subunit 1, domain of unknown function (1); 0.000000 0.85682 D 0.000000 T 0.35799 0.0944 M 0.72624 2.21 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.85130 0.997;0.994 T 0.04140 -1.0974 10 0.87932 D 0 . 19.1532 0.93499 0.0:0.0:1.0:0.0 . 666;687 P21675;P21675-2 TAF1_HUMAN;. H 666;666;687;687 ENSP00000362895:R666H;ENSP00000389000:R666H;ENSP00000406549:R687H;ENSP00000276072:R687H ENSP00000276072:R687H R + 2 0 TAF1 70520589 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.230000 0.95299 2.474000 0.83562 0.600000 0.82982 CGC TCGA-US-A779-01A-11D-A32N-08 TAF1-009 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000058995.2 0 0 0 5 557 0 124 0 1.897229e-03 0 6 0 124 2 0 0 0 0 0 2 1 0.935720 5 550 0 123 2 0 0 0 0 124 2 -2.624227 1 1 0 0 1 0 1 1 0.570000 1.860000 0.570000 0.030000 0 0.070000 0.040000 0.036685 0.030000 0 1.000000e-02 0.050000