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 7578484 7578485 + Frame_Shift_Ins INS - - A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 - A - - Valid Somatic Phase_I WXS targeted Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr17:7578484_7578485insA ENST00000269305.4 - 5 634_635 c.445_446insT c.(445-447)tccfs p.S149fs TP53_ENST00000445888.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S149fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S149fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S149fs 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.S149F(6)|p.S149fs*32(5)|p.S149P(4)|p.S149T(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.W146_S149>C(1)|p.Q144fs*16(1)|p.S149fs*21(1)|p.D148fs*23(1)|p.S149fs*31(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.V143_S149del(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) CGGGGGTGTGGAATCAACCCAC 0.604000 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 35 Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(5)|Deletion - In frame(3)|Complex - deletion inframe(1) SO:0001589 frameshift_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 0 1 hg19 CCDS11118.1 TCGA-HZ-A77P-01A-11D-A33T-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 0 28 337 0 52 0 9.827555e-01 0 80 0 52 2 1 1 244 1968 0 1622 2 1 1.000000 28 329 0 51 2 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 1 1 1.787065 1 0.220000 1.990000 0.123596 0.610000 0.420000 0.840000 0.610000 0.626332 0.610000 0 5.100000e-01 7.300000e-01 CEP350 9857 broad.mit.edu 37 1 179989588 179989594 + Frame_Shift_Del DEL TCAGAAG TCAGAAG - TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:179989588_179989594delTCAGAAG ENST00000367607.3 + 12 3097_3103 c.2679_2685delTCAGAAG c.(2677-2685)attcagaagfs p.IQK893fs NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 66 CTGCCAGAATTCAGAAGATGCTGGGAA 0.425000 0 SO:0001589 frameshift_variant ENST00000367607.3 1 1 hg19 CCDS1336.1 TCGA-HZ-A77P-01A-11D-A33T-08 CEP350-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085315.2 1 0 0 42 497 0 83 0 1.869187e-01 0 10 0 83 2 0 0 0 0 1 1.000000 51 497 0 83 2 0 0 0 0 0 0 -3.221883 1 1 0 0 1 1 2 3 2.016180 0 0.220000 1.990000 0.225114 0.710000 0.520000 1.000000 0.710000 0.735397 0.710000 0 6.100000e-01 8.500000e-01 KCNIP2 30819 broad.mit.edu 37 10 103590842 103590842 + Silent SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr10:103590842G>A ENST00000356640.2 - 2 431 c.156C>T c.(154-156)ccC>ccT p.P52P KCNIP2_ENST00000370046.1_Intron|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000461105.1_Silent_p.P52P|KCNIP2_ENST00000358038.3_Silent_p.P52P|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000348850.5_Intron NM_014591.4|NM_173191.2 NP_055406.2|NP_775283.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 11 Colorectal(252;0.122) CACTGACTGAGGGCAGGGCTT 0.637000 0 SO:0001819 synonymous_variant ENST00000356640.2 0 1 hg19 CCDS7522.1 TCGA-HZ-A77P-01A-11D-A33T-08 KCNIP2-009 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000049973.1 1 0 1 19 119 0 16 0 0 0 1 0 16 2 0 0 0 0 0 2 1 0.999993 19 116 0 16 2 0 0 0 0 16 2 -20.000000 1 1 0 0 1 1 2 3 2.021251 0 0.220000 1.990000 0.225960 0.990000 0.800000 1.000000 1.000000 0.985020 0.990000 1 9.900000e-01 1 SVIL 6840 broad.mit.edu 37 10 29822208 29822208 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 G A G G Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr10:29822208G>A ENST00000355867.4 - 8 1840 c.1088C>T c.(1087-1089)cCa>cTa p.P363L SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.P363L NM_021738.2 NP_068506.2 O95425 SVIL_HUMAN supervillin 112 Breast(68;0.103) GCCACGGATTGGCTGTCGTGT 0.557000 0 SO:0001583 missense ENST00000355867.4 1 1 hg19 CCDS7164.1 . . . . . . . . . . G 16.80 3.222354 0.58560 . . ENSG00000197321 ENST00000375398;ENST00000355867 T;T 0.50277 0.75;0.75 5.85 4.01 0.46588 . 0.127449 0.51477 N 0.000083 T 0.50394 0.1613 M 0.71581 2.175 0.80722 D 1 P 0.51933 0.949 P 0.45310 0.476 T 0.51710 -0.8671 9 . . . -7.9583 12.1685 0.54144 0.137:0.0:0.863:0.0 . 363 O95425 SVIL_HUMAN L 363 ENSP00000364547:P363L;ENSP00000348128:P363L . P - 2 0 SVIL 29862214 0.999000 0.42202 0.113000 0.21522 0.654000 0.38779 2.965000 0.49200 0.823000 0.34589 0.655000 0.94253 CCA TCGA-HZ-A77P-01A-11D-A33T-08 SVIL-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000047395.1 1 0 0 39 343 0 60 0 1 0 285 0 60 2 0 0 0 0 0 2 1 1.000000 39 343 0 58 2 0 0 0 0 60 2 -3.221884 1 1 0 0 1 1 2 3 2.006060 0 0.220000 1.990000 0.221712 0.930000 0.670000 1.000000 1.000000 0.909164 0.930000 1 7.900000e-01 1 CUL2 8453 broad.mit.edu 37 10 35317808 35317808 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr10:35317808G>A ENST00000374748.1 - 17 1860 c.1547C>T c.(1546-1548)gCg>gTg p.A516V CUL2_ENST00000602371.1_Missense_Mutation_p.A459V|CUL2_ENST00000374751.3_Missense_Mutation_p.A516V|CUL2_ENST00000374742.1_Missense_Mutation_p.A516V|CUL2_ENST00000374749.3_Missense_Mutation_p.A516V|CUL2_ENST00000374746.1_Missense_Mutation_p.A516V|CUL2_ENST00000537177.1_Missense_Mutation_p.A535V Q13617 CUL2_HUMAN cullin 2 31 AAGAGGCCACGCACCAGCCTA 0.318000 0 SO:0001583 missense ENST00000374748.1 1 1 hg19 CCDS7179.1 . . . . . . . . . . G 35 5.511389 0.96386 . . ENSG00000108094 ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177 T;T;T;T;T;T 0.73681 -0.77;-0.77;-0.77;-0.77;-0.77;-0.77 5.77 5.77 0.91146 Cullin, N-terminal (1);Cullin homology (3); 0.000000 0.85682 D 0.000000 D 0.84745 0.5540 L 0.56280 1.765 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.85130 0.997;0.992;0.995 D 0.84150 0.0422 10 0.59425 D 0.04 -21.1493 20.3626 0.98863 0.0:0.0:1.0:0.0 . 516;535;516 Q5T2B5;G3V1S2;Q13617 .;.;CUL2_HUMAN V 516;516;516;516;459;516;535 ENSP00000363883:A516V;ENSP00000363880:A516V;ENSP00000363878:A516V;ENSP00000363881:A516V;ENSP00000363874:A516V;ENSP00000444856:A535V ENSP00000363874:A516V A - 2 0 CUL2 35357814 1.000000 0.71417 0.975000 0.42487 0.987000 0.75469 9.864000 0.99589 2.885000 0.99019 0.655000 0.94253 GCG TCGA-HZ-A77P-01A-11D-A33T-08 CUL2-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000047538.1 1 0 1 25 201 0 36 1 9.895377e-01 2 59 0 36 2 0 0 0 0 0 2 1 1.000000 25 200 0 36 2 0 0 0 0 36 2 -11.057850 1 1 0 0 1 1 2 3 2.006060 0 0.220000 1.990000 0.221712 0.990000 0.670000 1.000000 1.000000 0.937111 0.990000 1 8.300000e-01 1 ARNTL 406 broad.mit.edu 37 11 13408297 13408297 + Silent SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr11:13408297G>T ENST00000403290.1 + 20 2230 c.1875G>T c.(1873-1875)ccG>ccT p.P625P ARNTL_ENST00000403510.3_Silent_p.P581P|ARNTL_ENST00000401424.1_Silent_p.P582P|ARNTL_ENST00000403482.3_Silent_p.P623P|ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000361003.4_Silent_p.P507P|ARNTL_ENST00000396441.3_Silent_p.P624P|ARNTL_ENST00000389707.4_Silent_p.P624P O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear translocator-like 20 TGCCATGGCCGCTGTAAACAC 0.468000 0 SO:0001819 synonymous_variant ENST00000403290.1 1 1 hg19 TCGA-HZ-A77P-01A-11D-A33T-08 ARNTL-004 KNOWN basic|appris_candidate_longest protein_coding protein_coding OTTHUMT00000319173.1 1 0 0 40 450 0 52 1 7.617485e-01 3 30 0 52 2 0 0 0 0 0 2 1 1.000000 40 448 0 52 2 0 0 0 0 52 2 -3.221883 1 1 0 0 1 1 2 3 2.008733 0 0.220000 1.990000 0.223417 0.740000 0.540000 1.000000 0.730000 0.761516 0.740000 0 6.400000e-01 8.800000e-01 PAX6 5080 broad.mit.edu 37 11 31823124 31823124 + Silent SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr11:31823124G>A ENST00000379132.3 - 5 622 c.342C>T c.(340-342)aaC>aaT p.N114N PAX6_ENST00000419022.1_Silent_p.N128N|PAX6_ENST00000379107.2_Silent_p.N128N|PAX6_ENST00000379115.4_Silent_p.N128N|PAX6_ENST00000241001.8_Silent_p.N114N|PAX6_ENST00000379129.2_Silent_p.N128N|PAX6_ENST00000379123.5_Silent_p.N114N|PAX6_ENST00000379111.2_Silent_p.N114N|PAX6_ENST00000533156.1_5'Flank P26367 PAX6_HUMAN paired box 6 35 Lung SC(675;0.225) GTATGTTATCGTTGGTACAGA 0.512000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 0 SO:0001819 synonymous_variant Familial Cancer Database WAGR syndrome ENST00000379132.3 1 1 hg19 CCDS31451.1 TCGA-HZ-A77P-01A-11D-A33T-08 PAX6-008 KNOWN not_organism_supported|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000099293.4 1 0 1 46 371 0 48 0 2.679514e-01 0 9 0 48 2 0 0 0 0 0 2 1 1.000000 46 368 0 48 2 0 0 0 0 48 2 -20.000000 1 1 0 0 1 1 2 3 2.008733 0 0.220000 1.990000 0.223417 0.990000 0.750000 1.000000 1.000000 0.953550 0.990000 1 8.700000e-01 1 HSD17B12 51144 broad.mit.edu 37 11 43852525 43852525 + Splice_Site SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr11:43852525G>T ENST00000278353.4 + 7 620 c.e7-1 RP11-613D13.5_ENST00000524643.1_RNA|HSD17B12_ENST00000529261.1_Splice_Site|RP11-613D13.5_ENST00000499066.2_RNA|RP11-613D13.5_ENST00000530450.1_RNA NM_016142.2 NP_057226.1 Q53GQ0 DHB12_HUMAN hydroxysteroid (17-beta) dehydrogenase 12 10 CTCTCTTGCAGATGACACAAT 0.428000 Ovarian(58;548 1143 13948 16572 34258) 0 SO:0001630 splice_region_variant ENST00000278353.4 1 1 hg19 CCDS7905.1 . . . . . . . . . . G 21.2 4.108041 0.77096 . . ENSG00000149084 ENST00000531185;ENST00000278353 . . . 6.16 6.16 0.99307 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 20.8598 0.99761 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . HSD17B12 43809101 1.000000 0.71417 1.000000 0.80357 0.978000 0.69477 7.590000 0.82653 2.937000 0.99478 0.650000 0.86243 . TCGA-HZ-A77P-01A-11D-A33T-08 HSD17B12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000389594.1 1 0 0 35 416 0 64 0 2.769610e-01 1 12 0 64 2 0 0 0 0 0 2 1 1.000000 35 411 0 64 2 0 0 0 0 64 2 -3.221883 1 1 0 0 1 1 2 3 2.008733 0 0.220000 1.990000 0.223417 0.710000 0.500000 1.000000 0.700000 0.727512 0.710000 0 6.000000e-01 8.500000e-01 OR4A47 403253 broad.mit.edu 37 11 48510911 48510911 + Missense_Mutation SNP C C A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr11:48510911C>A ENST00000446524.1 + 1 643 c.567C>A c.(565-567)gaC>gaA p.D189E NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 29 TCTGCACTGACACCCATGCTA 0.438000 0 SO:0001583 missense ENST00000446524.1 1 1 hg19 CCDS31490.1 . . . . . . . . . . N 8.025 0.760507 0.15914 . . ENSG00000237388 ENST00000446524 T 0.00227 8.5 4.59 1.62 0.23740 GPCR, rhodopsin-like superfamily (1); 0.222293 0.31415 N 0.007693 T 0.00300 0.0009 M 0.88105 2.93 0.18873 N 0.999985 B 0.23442 0.085 B 0.28784 0.094 T 0.31308 -0.9948 10 0.72032 D 0.01 . 8.1997 0.31417 0.0:0.728:0.0:0.272 . 189 Q6IF82 O4A47_HUMAN E 189 ENSP00000412752:D189E ENSP00000412752:D189E D + 3 2 OR4A47 48467487 0.229000 0.23729 0.652000 0.29579 0.089000 0.18198 -0.085000 0.11250 0.911000 0.36747 0.205000 0.17691 GAC TCGA-HZ-A77P-01A-11D-A33T-08 OR4A47-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390559.1 1 0 0 71 706 0 91 0 0 0 0 91 2 0 0 0 0 0 2 1 1.000000 71 698 0 91 2 0 0 0 0 91 2 -18.922180 1 1 0 0 1 1 2 3 2.008733 0 0.220000 1.990000 0.223417 0.830000 0.650000 1.000000 1.000000 0.842556 0.830000 0 7.400000e-01 9.400000e-01 SIPA1 6494 broad.mit.edu 37 11 65408965 65408965 + Silent SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr11:65408965C>T ENST00000394224.3 + 2 869 c.573C>T c.(571-573)aaC>aaT p.N191N SIPA1_ENST00000394227.3_Silent_p.N191N|SIPA1_ENST00000534313.1_Silent_p.N191N|SIPA1_ENST00000527525.1_Silent_p.N191N NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 10 CACTGCCCAACGCGGCCGTGT 0.637000 0 SO:0001819 synonymous_variant ENST00000394224.3 1 1 hg19 CCDS8108.1 TCGA-HZ-A77P-01A-11D-A33T-08 SIPA1-003 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390356.1 1 0 0 34 389 0 52 0 9.439446e-01 0 57 0 52 2 0 0 0 0 0 2 1 1.000000 34 386 0 52 2 0 0 0 0 52 2 -20.000000 1 1 121338 6 36 1 1 4 5 2.665389 1 0.220000 1.990000 0.413534 0.970000 0.690000 1.000000 1.000000 0.931520 0.970000 1 8.200000e-01 1 PDE3A 5139 broad.mit.edu 37 12 20801641 20801641 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:20801641G>A ENST00000359062.3 + 13 2625 c.2585G>A c.(2584-2586)cGt>cAt p.R862H PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811) TATAACGATCGTTCAGTTTTG 0.363000 0 SO:0001583 missense ENST00000359062.3 1 1 hg19 CCDS31754.1 . . . . . . . . . . G 29.6 5.017327 0.93404 . . ENSG00000172572 ENST00000359062 D 0.81908 -1.55 5.76 5.76 0.90799 Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2); 0.097634 0.64402 D 0.000001 D 0.91988 0.7462 M 0.79926 2.475 0.80722 D 1 D 0.89917 1.0 D 0.97110 1.0 D 0.92298 0.5847 10 0.87932 D 0 . 19.9617 0.97254 0.0:0.0:1.0:0.0 . 862 Q14432 PDE3A_HUMAN H 862 ENSP00000351957:R862H ENSP00000351957:R862H R + 2 0 PDE3A 20692908 1.000000 0.71417 0.999000 0.59377 0.956000 0.61745 9.412000 0.97347 2.722000 0.93159 0.650000 0.86243 CGT TCGA-HZ-A77P-01A-11D-A33T-08 PDE3A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000401756.2 1 0 1 59 537 0 91 0 9.583613e-01 0 48 0 91 2 0 0 0 0 0 2 1 1.000000 58 533 0 91 2 0 0 0 0 91 2 -18.046600 1 1 0 0 1 0 1 1 1.999210 0 0.220000 1.990000 0.218280 0.890000 0.690000 1.000000 1.000000 0.891801 0.890000 1 7.800000e-01 1 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 C A C C Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:25398284C>A ENST00000256078.4 - 2 98 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 15813 Substitution - Missense(15812)|Deletion - Frameshift(1) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 0 1 hg19 CCDS8703.1 . . . . . . . . . . C 27.2 4.808637 0.90707 . . ENSG00000133703 ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131 T;T;T;T 0.78707 -1.2;-1.2;-1.2;-1.2 5.68 5.68 0.88126 Small GTP-binding protein domain (1); 0.000000 0.85682 D 0.000000 D 0.90373 0.6987 M 0.90650 3.135 0.80722 D 1 D;D 0.76494 0.997;0.999 D;D 0.72625 0.969;0.978 D 0.91773 0.5429 10 0.72032 D 0.01 . 18.3719 0.90409 0.0:1.0:0.0:0.0 . 12;12 P01116-2;P01116 .;RASK_HUMAN V 12 ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V ENSP00000256078:G12V 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-HZ-A77P-01A-11D-A33T-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 0 9 116 0 18 1 3.854232e-01 3 14 0 18 2 1 9.999993e-01 38 470 0 438 2 1 0.994774 9 116 0 18 2 1 1 1231 6779 0 18 2 -5.633668 1 1 0 0 1 0 1 1 1.999210 0 0.220000 1.990000 0.218280 0.660000 0.330000 1.000000 1.000000 0.683693 0.660000 0 4.800000e-01 8.900000e-01 ADAMTS20 80070 broad.mit.edu 37 12 43847747 43847747 + Missense_Mutation SNP C C T rs150619594 TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:43847747C>T ENST00000389420.3 - 12 1722 c.1723G>A c.(1723-1725)Gga>Aga p.G575R ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G575R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) CTTTCGATTCCGCCTCCACAT 0.418000 0 SO:0001583 missense ENST00000389420.3 0 1 hg19 CCDS31778.2 . . . . . . . . . . C 26.8 4.774087 0.90108 2.27E-4 0.0 ENSG00000173157 ENST00000389420;ENST00000553158;ENST00000389417 D;D 0.83673 -1.75;-1.75 4.77 4.77 0.60923 . 0.279795 0.24949 N 0.034312 D 0.94847 0.8335 H 0.98199 4.17 0.80722 D 1 D 0.89917 1.0 D 0.85130 0.997 D 0.96742 0.9547 10 0.87932 D 0 . 18.6648 0.91485 0.0:1.0:0.0:0.0 . 575 P59510 ATS20_HUMAN R 575 ENSP00000374071:G575R;ENSP00000448341:G575R ENSP00000374068:G575R G - 1 0 ADAMTS20 42134014 1.000000 0.71417 1.000000 0.80357 0.912000 0.54170 7.196000 0.77805 2.586000 0.87340 0.585000 0.79938 GGA TCGA-HZ-A77P-01A-11D-A33T-08 ADAMTS20-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000403643.1 0 0 0 7 83 0 21 0 0 0 0 21 2 0 0 0 0 0 2 1 0.980503 7 81 0 21 2 0 0 0 0 21 2 -11.690400 1 1 121388 3 33 1 0 1 1 1.999210 0 0.220000 1.990000 0.218280 0.720000 0.330000 1.000000 1.000000 0.729536 0.720000 0 5.000000e-01 1 FGF23 8074 broad.mit.edu 37 12 4479899 4479899 + Silent SNP G G A rs145147639 TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:4479899G>A ENST00000237837.1 - 3 511 c.366C>T c.(364-366)aaC>aaT p.N122N NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) CGTCGTACCCGTTTTCCAGCG 0.607000 0 SO:0001819 synonymous_variant ENST00000237837.1 1 1 hg19 CCDS8526.1 TCGA-HZ-A77P-01A-11D-A33T-08 FGF23-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000398936.1 1 0 1 78 665 0 112 0 0 0 0 112 2 0 0 0 0 0 2 1 1.000000 78 654 0 110 2 0 0 0 0 112 2 -19.999930 1 1 121410 2 34 1 0 1 1 1.991977 0 0.220000 1.990000 0.215686 0.940000 0.750000 1.000000 1.000000 0.931910 0.940000 1 8.400000e-01 1 COL2A1 1280 broad.mit.edu 37 12 48367243 48367243 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:48367243C>T ENST00000380518.3 - 54 4575 c.4411G>A c.(4411-4413)Gga>Aga p.G1471R COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1402R NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) TCGGGCCCTCCTATGTCCATG 0.527000 0 SO:0001583 missense ENST00000380518.3 1 1 hg19 CCDS41778.1 . . . . . . . . . . C 20.1 3.940351 0.73557 . . ENSG00000139219 ENST00000380518;ENST00000395281;ENST00000337299 T;T 0.78126 -1.15;-1.15 4.65 4.65 0.58169 Fibrillar collagen, C-terminal (4); 0.000000 0.85682 D 0.000000 D 0.91112 0.7202 M 0.93462 3.42 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.998;1.0 D 0.93677 0.6995 10 0.87932 D 0 . 17.4825 0.87677 0.0:1.0:0.0:0.0 . 1402;1471 P02458-1;P02458 .;CO2A1_HUMAN R 1471;1402;1402 ENSP00000369889:G1471R;ENSP00000338213:G1402R ENSP00000338213:G1402R G - 1 0 COL2A1 46653510 1.000000 0.71417 0.998000 0.56505 0.997000 0.91878 7.725000 0.84808 2.274000 0.75844 0.561000 0.74099 GGA TCGA-HZ-A77P-01A-11D-A33T-08 COL2A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000313810.2 1 0 1 64 542 0 78 0 0 0 0 78 2 0 0 0 0 0 2 1 1.000000 62 539 0 78 2 0 0 0 0 78 2 -2.774725 1 1 0 0 1 0 1 1 1.999210 0 0.220000 1.990000 0.218280 0.950000 0.740000 1.000000 1.000000 0.934226 0.950000 1 8.400000e-01 1 KRT86 3892 broad.mit.edu 37 12 52695732 52695732 + Missense_Mutation SNP C C A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr12:52695732C>A ENST00000423955.2 + 3 210 c.32C>A c.(31-33)gCc>gAc p.A11D KRT86_ENST00000293525.5_Missense_Mutation_p.A11D|KRT86_ENST00000544024.1_Missense_Mutation_p.A11D O43790 KRT86_HUMAN keratin 86 10 GGTGGCCGCGCCTTCAGCTGC 0.667000 0 SO:0001583 missense ENST00000423955.2 0 1 hg19 CCDS41785.1 . . . . . . . . . . C 13.40 2.225010 0.39300 . . ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832 ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310 T;T;T 0.81330 -1.48;-1.48;-1.48 5.01 5.01 0.66863 . 1.824800 0.03602 U 0.233611 T 0.75064 0.3799 L 0.27053 0.805 0.34929 D 0.749164 B 0.06786 0.001 B 0.04013 0.001 T 0.58411 -0.7641 10 0.56958 D 0.05 . 11.9409 0.52901 0.0:0.8097:0.1903:0.0 . 11 O43790 KRT86_HUMAN D 11 ENSP00000443169:A11D;ENSP00000444533:A11D;ENSP00000293525:A11D ENSP00000293525:A11D A + 2 0 AC021066.1;KRT86 50981999 0.630000 0.27155 0.988000 0.46212 0.777000 0.43975 0.609000 0.24238 2.320000 0.78422 0.643000 0.83706 GCC TCGA-HZ-A77P-01A-11D-A33T-08 KRT86-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000404911.1 0 0 0 12 576 0 68 0 5.219536e-04 0 2 0 68 2 0 0 0 0 0 2 1 0.999080 12 571 0 67 2 0 0 0 0 68 2 -3.365024 1 1 121260 1 32 1 0 1 1 1.999210 0 0.220000 1.990000 0.218280 0.180000 0.090000 0.310000 0.180000 0.198654 0.180000 0 1.300000e-01 2.500000e-01 FRY 10129 broad.mit.edu 37 13 32783787 32783787 + Missense_Mutation SNP A A T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr13:32783787A>T ENST00000380250.3 + 33 4837 c.4341A>T c.(4339-4341)aaA>aaT p.K1447N NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 132 Lung SC(185;0.0271) ACAATGAGAAATGGAGCAACA 0.463000 0 SO:0001583 missense ENST00000380250.3 1 1 hg19 CCDS41875.1 . . . . . . . . . . A 15.42 2.827518 0.50845 . . ENSG00000073910 ENST00000380250;ENST00000380257 T 0.23754 1.89 5.48 -6.97 0.01616 . 0.048340 0.85682 D 0.000000 T 0.15609 0.0376 N 0.22421 0.69 0.58432 D 0.999997 B 0.33345 0.409 B 0.38755 0.281 T 0.03335 -1.1047 10 0.18710 T 0.47 . 16.3704 0.83355 0.4617:0.0:0.5383:0.0 . 1447 Q5TBA9 FRY_HUMAN N 1447;284 ENSP00000369600:K1447N ENSP00000369600:K1447N K + 3 2 FRY 31681787 0.173000 0.23056 0.847000 0.33407 0.862000 0.49288 -0.307000 0.08167 -1.244000 0.02516 -0.379000 0.06801 AAA TCGA-HZ-A77P-01A-11D-A33T-08 FRY-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044405.1 0 0 1 93 464 0 70 0 4.603075e-01 1 8 0 70 2 0 0 0 0 0 2 1 1.000000 91 460 0 70 2 0 0 0 0 70 2 -20.000000 1 1 0 0 1 1 2 3 2.223144 1 0.220000 1.990000 0.297297 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 ESR2 2100 broad.mit.edu 37 14 64727336 64727336 + Silent SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr14:64727336G>A ENST00000341099.4 - 5 1200 c.783C>T c.(781-783)gaC>gaT p.D261D ESR2_ENST00000357782.2_Silent_p.D261D|ESR2_ENST00000557772.1_Silent_p.D261D|ESR2_ENST00000267525.6_Silent_p.D261D|ESR2_ENST00000353772.3_Silent_p.D261D|ESR2_ENST00000542956.1_Silent_p.D261D|ESR2_ENST00000555278.1_Silent_p.D261D|ESR2_ENST00000553796.1_Silent_p.D261D|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.D261D|ESR2_ENST00000554572.1_Silent_p.D261D NM_001437.2 NP_001428.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) p.D261D(2) 23 Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GGCTCAGGGCGTCCAGCAGCA 0.682000 2 Substitution - coding silent(2) SO:0001819 synonymous_variant ENST00000341099.4 1 1 hg19 CCDS9762.1 TCGA-HZ-A77P-01A-11D-A33T-08 ESR2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280621.1 1 0 1 78 272 0 63 0 0 0 1 0 63 2 0 0 0 0 0 2 1 1.000000 75 268 0 63 2 0 0 0 0 63 2 -4.189801 1 1 121288 3 34 1 0 1 1 1.989380 1 0.220000 1.990000 0.123596 0.980000 0.910000 1.000000 0.990000 0.980654 0.980000 1 9.500000e-01 1 MKL2 57496 broad.mit.edu 37 16 14280893 14280893 + Splice_Site SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr16:14280893G>T ENST00000341243.5 + 1 121 c.e1+1 MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_Splice_Site|MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 42 CTCAAGGAAGGTCAGTCTGTC 0.478000 0 SO:0001630 splice_region_variant ENST00000341243.5 0 1 hg19 . . . . . . . . . . G 18.48 3.633236 0.67015 . . ENSG00000186260 ENST00000389126;ENST00000341243 . . . 5.34 5.34 0.76211 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 18.9209 0.92525 0.0:0.0:1.0:0.0 . . . . . -1 . . . + . . MKL2 14188394 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.420000 0.73349 2.884000 0.98904 0.655000 0.94253 . TCGA-HZ-A77P-01A-11D-A33T-08 MKL2-202 KNOWN basic protein_coding protein_coding 0 0 0 10 95 0 20 0 0 0 0 20 2 0 0 0 0 0 2 1 0.997345 10 95 0 19 2 0 0 0 0 20 2 -16.563630 1 1 0 0 1 1 2 3 2.004797 0 0.220000 1.990000 0.221712 0.880000 0.460000 1.000000 1.000000 0.842927 0.880000 1 6.400000e-01 1 WWP2 11060 broad.mit.edu 37 16 69951707 69951707 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 G A G G Valid Somatic Phase_I WXS targeted Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr16:69951707G>A ENST00000359154.2 + 10 1201 c.1100G>A c.(1099-1101)cGc>cAc p.R367H WWP2_ENST00000542271.1_Missense_Mutation_p.R251H|WWP2_ENST00000356003.2_Missense_Mutation_p.R367H|WWP2_ENST00000448661.1_Missense_Mutation_p.R367H|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 42 GAGTACGTGCGCAACTATGAG 0.592000 0 SO:0001583 missense ENST00000359154.2 0 1 hg19 CCDS10885.1 . . . . . . . . . . G 33 5.217011 0.95104 . . ENSG00000198373 ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271 T;T;T;T 0.34072 1.4;1.4;1.4;1.38 5.72 4.77 0.60923 . 0.102760 0.64402 D 0.000006 T 0.55641 0.1933 M 0.76328 2.33 0.80722 D 1 D 0.76494 0.999 P 0.59825 0.864 T 0.59177 -0.7503 9 . . . . 14.8283 0.70130 0.0689:0.0:0.9311:0.0 . 367 O00308 WWP2_HUMAN H 367;367;367;254;251 ENSP00000352069:R367H;ENSP00000396871:R367H;ENSP00000348283:R367H;ENSP00000445616:R251H . R + 2 0 WWP2 68509208 1.000000 0.71417 0.931000 0.37212 0.958000 0.62258 9.869000 0.99810 1.417000 0.47077 0.655000 0.94253 CGC TCGA-HZ-A77P-01A-11D-A33T-08 WWP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268954.1 0 0 0 5 308 0 24 0 2.673187e-01 0 53 0 24 2 1 9.986635e-01 2 934 0 700 2 1 0.936974 5 306 0 24 2 0 0 0 0 24 2 -4.333833 1 0 121410 3 36 1 1 2 3 2.004797 0 0.220000 1.990000 0.221712 0.150000 0.050000 0.350000 0.140000 0.179715 0.150000 0 9.000000e-02 2.400000e-01 UBB 7314 broad.mit.edu 37 17 16285438 16285438 + Missense_Mutation SNP C C G TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr17:16285438C>G ENST00000395837.1 + 2 398 c.217C>G c.(217-219)Ctg>Gtg p.L73V UBB_ENST00000395839.1_Missense_Mutation_p.L73V|UBB_ENST00000535788.1_Missense_Mutation_p.L73V|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000302182.3_Missense_Mutation_p.L73V NM_001281718.1|NM_001281720.1 NP_001268647.1|NP_001268649.1 P0CG47 UBB_HUMAN ubiquitin B 16 GGTCCTGCGTCTGAGAGGTGG 0.547000 Melanoma(163;1126 3406 34901) 0 SO:0001583 missense ENST00000395837.1 1 1 hg19 CCDS11177.1 . . . . . . . . . . C 12.64 1.999368 0.35226 . . ENSG00000170315 ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837 T;T;T;T 0.74526 -0.85;-0.85;-0.85;-0.85 4.05 4.05 0.47172 Ubiquitin supergroup (1);Ubiquitin (1); 0.000000 0.42420 U 0.000711 T 0.79347 0.4430 M 0.88181 2.935 0.80722 D 1 B 0.10296 0.003 B 0.20955 0.032 T 0.81180 -0.1050 10 0.87932 D 0 . 15.641 0.77001 0.0:1.0:0.0:0.0 . 73 P0CG47 UBB_HUMAN V 73 ENSP00000304697:L73V;ENSP00000437475:L73V;ENSP00000379180:L73V;ENSP00000379178:L73V ENSP00000304697:L73V L + 1 2 UBB 16226163 1.000000 0.71417 0.926000 0.36857 0.847000 0.48162 4.164000 0.58190 1.989000 0.58080 0.644000 0.83932 CTG TCGA-HZ-A77P-01A-11D-A33T-08 UBB-002 NOVEL alternative_5_UTR|basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000130459.1 1 0 0 52 385 0 87 1 1 734 5595 0 87 2 0 0 0 0 0 2 1 1.000000 46 311 0 97 2 0 0 0 0 87 2 -20.000000 1 1 0 0 1 0 1 1 1.787065 1 0.220000 1.990000 0.123596 0.890000 0.700000 1.000000 0.950000 0.889295 0.890000 1 8.000000e-01 9.700000e-01 LRRC45 201255 broad.mit.edu 37 17 79983019 79983019 + Missense_Mutation SNP T T G TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr17:79983019T>G ENST00000306688.3 + 4 839 c.497T>G c.(496-498)cTa>cGa p.L166R STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000584347.1_5'Flank NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GAGCTGGCCCTAGCCCTGAAG 0.687000 0 SO:0001583 missense ENST00000306688.3 0 1 hg19 CCDS11797.1 . . . . . . . . . . T 16.31 3.085981 0.55861 . . ENSG00000169683 ENST00000306688 T 0.51817 0.69 3.85 2.75 0.32379 . 0.387055 0.24833 N 0.035239 T 0.36248 0.0960 N 0.04373 -0.215 0.36634 D 0.876484 D 0.53462 0.96 P 0.59424 0.857 T 0.32107 -0.9919 9 . . . -12.8284 8.6719 0.34156 0.0:0.0939:0.0:0.9061 . 166 Q96CN5 LRC45_HUMAN R 166 ENSP00000306760:L166R . L + 2 0 LRRC45 77576308 1.000000 0.71417 0.999000 0.59377 0.468000 0.32798 3.635000 0.54309 1.530000 0.49136 0.460000 0.39030 CTA TCGA-HZ-A77P-01A-11D-A33T-08 LRRC45-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000442058.1 1 0 1 13 106 0 16 1 8.692702e-01 9 23 0 16 2 0 0 0 0 0 2 1 0.999614 13 105 0 16 2 0 0 0 0 16 2 -19.890940 1 1 0 0 1 1 2 3 2.013756 0 0.220000 1.990000 0.224267 0.990000 0.570000 1.000000 1.000000 0.915341 0.990000 1 7.700000e-01 1 TCF4 6925 broad.mit.edu 37 18 53017618 53017618 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr18:53017618C>T ENST00000356073.4 - 8 1132 c.521G>A c.(520-522)cGa>cAa p.R174Q TCF4_ENST00000398339.1_Missense_Mutation_p.R276Q|TCF4_ENST00000564999.1_Missense_Mutation_p.R174Q|TCF4_ENST00000564403.2_Missense_Mutation_p.R174Q|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Missense_Mutation_p.R149Q|TCF4_ENST00000566286.1_Missense_Mutation_p.R172Q|TCF4_ENST00000561992.1_Missense_Mutation_p.R44Q|TCF4_ENST00000537578.1_Missense_Mutation_p.R150Q|TCF4_ENST00000565018.2_Missense_Mutation_p.R174Q|TCF4_ENST00000540999.1_Missense_Mutation_p.R150Q|TCF4_ENST00000570177.2_Missense_Mutation_p.R44Q|TCF4_ENST00000543082.1_Missense_Mutation_p.R132Q|TCF4_ENST00000537856.3_Missense_Mutation_p.R44Q|TCF4_ENST00000568673.1_Missense_Mutation_p.R150Q|TCF4_ENST00000544241.2_Missense_Mutation_p.R103Q|TCF4_ENST00000564228.1_Missense_Mutation_p.R103Q|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000354452.3_Missense_Mutation_p.R174Q NM_003199.2 NP_003190.1 P15884 ITF2_HUMAN transcription factor 4 41 AGGAACTTTTCGAACTTTCTT 0.368000 0 SO:0001583 missense ENST00000356073.4 1 1 hg19 CCDS11960.1 . . . . . . . . . . C 22.9 4.347222 0.82022 . . ENSG00000196628 ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339 T;T;T;T;T;T;T;T 0.64260 -0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09 5.48 5.48 0.80851 . 0.105285 0.42172 D 0.000742 T 0.69269 0.3092 M 0.71036 2.16 0.35708 D 0.816131 D;P;D;D;P;D;D 0.62365 0.991;0.938;0.991;0.984;0.88;0.973;0.973 P;B;P;P;B;P;B 0.47376 0.545;0.346;0.545;0.465;0.115;0.545;0.406 T 0.79983 -0.1573 10 0.87932 D 0 -15.0974 18.1047 0.89516 0.0:1.0:0.0:0.0 . 150;174;150;276;174;132;103 B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62 .;.;.;.;ITF2_HUMAN;.;. Q 174;174;132;150;150;103;44;276 ENSP00000346440:R174Q;ENSP00000348374:R174Q;ENSP00000439656:R132Q;ENSP00000445202:R150Q;ENSP00000440731:R150Q;ENSP00000441562:R103Q;ENSP00000439827:R44Q;ENSP00000381382:R276Q ENSP00000346440:R174Q R - 2 0 TCF4 51168616 1.000000 0.71417 1.000000 0.80357 0.976000 0.68499 5.985000 0.70556 2.582000 0.87167 0.491000 0.48974 CGA TCGA-HZ-A77P-01A-11D-A33T-08 TCF4-002 KNOWN upstream_uORF|basic|CCDS protein_coding protein_coding OTTHUMT00000256014.1 1 0 1 36 218 0 49 0 8.348268e-01 0 22 0 49 2 0 0 0 0 0 2 1 1.000000 36 214 0 49 2 0 0 0 0 49 2 -3.322927 1 1 0 0 1 0 1 1 1.759170 1 0.220000 1.990000 0.123596 0.920000 0.730000 1.000000 0.990000 0.915927 0.920000 1 8.400000e-01 9.800000e-01 EPB41L3 23136 broad.mit.edu 37 18 5419762 5419762 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 C T C C Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr18:5419762C>T ENST00000341928.2 - 12 1794 c.1454G>A c.(1453-1455)cGg>cAg p.R485Q EPB41L3_ENST00000540638.2_Missense_Mutation_p.R503Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R503Q|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R485Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R503Q NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 105 ccccttcctccgtttgtcctc 0.552000 0 SO:0001583 missense ENST00000341928.2 1 1 hg19 CCDS11838.1 . . . . . . . . . . C 11.66 1.703468 0.30232 . . ENSG00000082397 ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111 T;D;T;D 0.82255 -1.37;-1.56;-1.37;-1.59 5.61 4.73 0.59995 . 1.452490 0.04085 N 0.310269 T 0.76723 0.4027 L 0.49126 1.545 0.30694 N 0.751003 P;D;B;P;P 0.54601 0.938;0.967;0.357;0.709;0.535 B;B;B;B;B 0.37267 0.245;0.124;0.038;0.131;0.023 T 0.69209 -0.5205 10 0.40728 T 0.16 . 4.881 0.13679 0.18:0.644:0.0:0.1761 . 503;64;394;503;485 F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2 .;.;.;.;E41L3_HUMAN Q 485;394;503;394;485;503 ENSP00000343158:R485Q;ENSP00000441174:R503Q;ENSP00000341138:R485Q;ENSP00000382981:R503Q ENSP00000343158:R485Q R - 2 0 EPB41L3 5409762 0.999000 0.42202 0.059000 0.19551 0.335000 0.28730 2.452000 0.44961 1.469000 0.48083 0.655000 0.94253 CGG TCGA-HZ-A77P-01A-11D-A33T-08 EPB41L3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000254424.1 1 0 1 47 321 0 47 0 9.961116e-01 0 60 0 47 2 0 0 0 0 0 2 1 1.000000 46 314 0 46 2 0 0 0 0 47 2 -2.966682 1 1 121412 2 40 1 1 2 3 2.029318 0 0.220000 1.990000 0.227646 0.990000 0.880000 1.000000 1.000000 0.991972 0.990000 1 9.900000e-01 1 ANKRD24 170961 broad.mit.edu 37 19 4219626 4219626 + Silent SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr19:4219626C>T ENST00000600132.1 + 19 3318 c.3042C>T c.(3040-3042)caC>caT p.H1014H ANKRD24_ENST00000318934.4_Silent_p.H1014H|ANKRD24_ENST00000262970.5_Silent_p.H1104H NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 21 GTGAGCGACACGCAGCCGAGG 0.652000 0 SO:0001819 synonymous_variant ENST00000600132.1 1 1 hg19 CCDS45925.1 TCGA-HZ-A77P-01A-11D-A33T-08 ANKRD24-003 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000458188.1 1 0 1 60 497 0 68 0 6.209867e-02 0 4 0 68 2 0 0 0 0 0 2 1 1.000000 60 490 0 67 2 0 0 0 0 68 2 -19.825400 1 1 121320 2 34 1 1 2 3 2.015827 0 0.220000 1.990000 0.225114 0.990000 0.760000 1.000000 1.000000 0.950621 0.990000 1 8.700000e-01 1 MZF1 7593 broad.mit.edu 37 19 59073841 59073841 + Missense_Mutation SNP C C G TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr19:59073841C>G ENST00000215057.2 - 6 2363 c.1803G>C c.(1801-1803)gaG>gaC p.E601D MZF1_ENST00000599369.1_Missense_Mutation_p.E601D|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) GCTGGCCACACTCGGGGCAGG 0.662000 0 SO:0001583 missense ENST00000215057.2 0 1 hg19 CCDS12988.1 . . . . . . . . . . C 13.65 2.300340 0.40694 . . ENSG00000099326 ENST00000215057 T 0.32988 1.43 3.21 0.896 0.19253 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1); 0.231155 0.22357 N 0.061125 T 0.15869 0.0382 N 0.17594 0.5 0.31431 N 0.673168 B 0.06786 0.001 B 0.09377 0.004 T 0.09509 -1.0671 10 0.37606 T 0.19 -7.1772 7.2841 0.26328 0.1919:0.6218:0.1863:0.0 . 601 P28698 MZF1_HUMAN D 601 ENSP00000215057:E601D ENSP00000215057:E601D E - 3 2 MZF1 63765653 0.000000 0.05858 0.985000 0.45067 0.990000 0.78478 -1.097000 0.03349 0.320000 0.23234 0.462000 0.41574 GAG TCGA-HZ-A77P-01A-11D-A33T-08 MZF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000467112.1 1 0 1 11 75 0 9 1 9.799199e-01 9 40 0 9 2 0 0 0 0 0 2 1 0.998616 11 74 0 9 2 0 0 0 0 9 2 -18.919900 1 1 121282 1 26 1 1 2 3 2.022047 0 0.220000 1.990000 0.225960 0.990000 0.640000 1.000000 1.000000 0.956591 0.990000 1 8.800000e-01 1 ATP1A2 477 broad.mit.edu 37 1 160098814 160098814 + Nonsense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:160098814C>T ENST00000361216.3 + 10 1350 c.1261C>T c.(1261-1263)Cga>Tga p.R421* ATP1A2_ENST00000392233.3_Nonsense_Mutation_p.R421* NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCCCTGTCTCGAATTGCTGG 0.562000 0 SO:0001587 stop_gained ENST00000361216.3 0 1 hg19 CCDS1196.1 . . . . . . . . . . C 37 6.313929 0.97467 . . ENSG00000018625 ENST00000361216;ENST00000392233;ENST00000435866 . . . 4.13 2.17 0.27698 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 11.6931 0.51527 0.322:0.678:0.0:0.0 . . . . X 421;421;124 . ENSP00000354490:R421X R + 1 2 ATP1A2 158365438 0.565000 0.26610 0.987000 0.45799 0.612000 0.37316 1.260000 0.32968 0.472000 0.27344 0.561000 0.74099 CGA TCGA-HZ-A77P-01A-11D-A33T-08 ATP1A2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000060642.2 1 0 0 10 109 0 14 0 9.610789e-01 0 64 0 14 2 0 0 0 0 0 2 1 0.997286 10 109 0 14 2 0 0 0 0 14 2 -15.275600 1 1 0 0 1 1 2 3 2.022475 0 0.220000 1.990000 0.225960 0.800000 0.410000 1.000000 1.000000 0.790910 0.800000 0 5.800000e-01 1 CEP350 9857 broad.mit.edu 37 1 179989235 179989235 + Nonsense_Mutation SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:179989235G>T ENST00000367607.3 + 12 2744 c.2326G>T c.(2326-2328)Gaa>Taa p.E776* NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 66 TAAGGATTTTGAATCTATTTT 0.403000 0 SO:0001587 stop_gained ENST00000367607.3 0 1 hg19 CCDS1336.1 . . . . . . . . . . G 42 9.531776 0.99196 . . ENSG00000135837 ENST00000367607 . . . 6.02 6.02 0.97574 . 0.258735 0.26812 N 0.022367 . . . . . . 0.80722 A 1 . . . . . . . . . . . . . . 18.3137 0.90210 0.0:0.0:1.0:0.0 . . . . X 776 . . E + 1 0 CEP350 178255858 1.000000 0.71417 0.991000 0.47740 0.696000 0.40369 6.394000 0.73223 2.865000 0.98341 0.655000 0.94253 GAA TCGA-HZ-A77P-01A-11D-A33T-08 CEP350-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085315.2 1 0 1 61 500 0 88 0 3.411656e-02 1 2 0 88 2 0 0 0 0 0 2 1 1.000000 60 498 0 88 2 0 0 0 0 88 2 -19.806210 1 1 0 0 1 1 2 3 2.016180 0 0.220000 1.990000 0.225114 0.990000 0.770000 1.000000 1.000000 0.955165 0.990000 1 8.800000e-01 1 CEP350 9857 broad.mit.edu 37 1 179989793 179989793 + Missense_Mutation SNP G G C TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:179989793G>C ENST00000367607.3 + 12 3302 c.2884G>C c.(2884-2886)Gat>Cat p.D962H NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 66 TTCTAGCTCTGATATGCAAGC 0.468000 0 SO:0001583 missense ENST00000367607.3 1 1 hg19 CCDS1336.1 . . . . . . . . . . G 14.63 2.593039 0.46214 . . ENSG00000135837 ENST00000367607 T 0.14022 2.54 6.02 6.02 0.97574 . 0.124193 0.35585 N 0.003120 T 0.19565 0.0470 L 0.29908 0.895 0.39682 D 0.970914 D;B 0.54397 0.966;0.303 P;B 0.52710 0.707;0.095 T 0.00756 -1.1579 9 . . . . 17.26 0.87067 0.0:0.0:1.0:0.0 . 962;962 E7EU22;Q5VT06 .;CE350_HUMAN H 962 ENSP00000356579:D962H . D + 1 0 CEP350 178256416 1.000000 0.71417 0.998000 0.56505 0.988000 0.76386 7.938000 0.87678 2.865000 0.98341 0.655000 0.94253 GAT TCGA-HZ-A77P-01A-11D-A33T-08 CEP350-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000085315.2 1 0 1 86 532 0 66 0 2.015626e-01 1 5 0 66 2 0 0 0 0 0 2 1 1.000000 85 524 0 66 2 0 0 0 0 66 2 -3.221904 1 1 0 0 1 0.220000 1.990000 0 0 ZNF648 127665 broad.mit.edu 37 1 182027016 182027016 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:182027016C>T ENST00000339948.3 - 2 337 c.130G>A c.(130-132)Gaa>Aaa p.E44K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 40 CCCTCTTTTTCGGCCTCCCCA 0.577000 NSCLC(71;908 1374 5429 20458 35642) 0 SO:0001583 missense ENST00000339948.3 1 1 hg19 CCDS30952.1 . . . . . . . . . . C 5.419 0.262519 0.10294 . . ENSG00000179930 ENST00000339948 T 0.07114 3.22 2.76 0.83 0.18854 . . . . . T 0.03695 0.0105 N 0.08118 0 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.46638 -0.9177 9 0.07813 T 0.8 . 9.5485 0.39295 0.0:0.782:0.0:0.218 . 44 Q5T619 ZN648_HUMAN K 44 ENSP00000344129:E44K ENSP00000344129:E44K E - 1 0 ZNF648 180293639 0.000000 0.05858 0.000000 0.03702 0.000000 0.00434 -0.124000 0.10595 -0.031000 0.13781 -1.814000 0.00607 GAA TCGA-HZ-A77P-01A-11D-A33T-08 ZNF648-001 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000090794.1 1 0 1 48 407 0 65 0 0 0 0 65 2 0 0 0 0 0 2 1 1.000000 48 404 0 65 2 0 0 0 0 65 2 -15.995280 1 1 121412 1 33 1 1 2 3 2.015766 0 0.220000 1.990000 0.225114 0.970000 0.720000 1.000000 1.000000 0.936225 0.970000 1 8.400000e-01 1 FOXD3 27022 broad.mit.edu 37 1 63789346 63789346 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr1:63789346C>T ENST00000371116.2 + 1 617 c.617C>T c.(616-618)cCg>cTg p.P206L RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA NM_012183.2 NP_036315.1 Q9UJU5 FOXD3_HUMAN forkhead box D3 5 CCCCGCGAGCCGGGCAACCCG 0.632000 Pancreas(68;276 1750 11966 31252) 0 SO:0001583 missense ENST00000371116.2 1 1 hg19 CCDS624.1 . . . . . . . . . . C 20.7 4.038446 0.75617 . . ENSG00000187140 ENST00000371116 D 0.95412 -3.7 2.6 2.6 0.31112 Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3); 0.000000 0.85682 U 0.000000 D 0.96288 0.8789 M 0.72353 2.195 0.80722 D 1 D 0.60160 0.987 D 0.65010 0.931 D 0.96508 0.9376 10 0.87932 D 0 . 13.9222 0.63940 0.0:1.0:0.0:0.0 . 206 Q9UJU5 FOXD3_HUMAN L 206 ENSP00000360157:P206L ENSP00000360157:P206L P + 2 0 FOXD3 63561934 1.000000 0.71417 1.000000 0.80357 0.996000 0.88848 2.344000 0.44010 1.759000 0.51996 0.460000 0.39030 CCG TCGA-HZ-A77P-01A-11D-A33T-08 FOXD3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000025331.1 1 0 0 95 779 0 123 0 3.842954e-01 0 12 0 123 2 0 0 0 0 0 2 1 1.000000 92 749 0 116 2 0 0 0 0 123 2 -20.000000 1 1 0 0 1 1 2 3 2.030203 0 0.220000 1.990000 0.227646 0.990000 0.810000 1.000000 1.000000 0.965276 0.990000 1 9.000000e-01 1 DEFB119 245932 broad.mit.edu 37 20 29978252 29978252 + Missense_Mutation SNP A A G TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr20:29978252A>G ENST00000376321.3 - 1 154 c.35T>C c.(34-36)cTg>cCg p.L12P DEFB119_ENST00000492344.1_5'UTR|DEFB119_ENST00000339144.3_Missense_Mutation_p.L12P|DEFB119_ENST00000376315.2_Missense_Mutation_p.L12P NM_153289.3 NP_695021.2 Q8N690 DB119_HUMAN defensin, beta 119 4 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TTCTATGGCCAGAAGGATGGC 0.547000 0 SO:0001583 missense ENST00000376321.3 1 1 hg19 CCDS13178.1 . . . . . . . . . . A 8.498 0.863675 0.17250 . . ENSG00000180483 ENST00000339144;ENST00000376321;ENST00000376315 T;T 0.50277 0.9;0.75 3.56 3.56 0.40772 . 0.251087 0.21123 N 0.079786 T 0.64103 0.2568 . . . 0.45066 D 0.998088 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.73380 0.98;0.952;0.98 T 0.66976 -0.5787 9 0.87932 D 0 -10.6634 8.8245 0.35047 1.0:0.0:0.0:0.0 . 12;12;12 Q8N690-2;Q8N690;Q5TH42 .;DB119_HUMAN;. P 12 ENSP00000365499:L12P;ENSP00000365492:L12P ENSP00000345768:L12P L - 2 0 DEFB119 29441913 0.995000 0.38212 0.957000 0.39632 0.058000 0.15608 3.346000 0.52190 1.865000 0.54081 0.374000 0.22700 CTG TCGA-HZ-A77P-01A-11D-A33T-08 DEFB119-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078514.1 1 0 1 124 571 0 82 0 0 0 0 82 2 0 0 0 0 0 2 1 1.000000 124 564 0 81 2 0 0 0 0 82 2 -20.000000 1 1 0 0 1 2 2 4 2.293173 1 0.220000 1.990000 0.320202 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 9.900000e-01 1 SON 6651 broad.mit.edu 37 21 34922087 34922087 + Missense_Mutation SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 G T G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr21:34922087G>T ENST00000356577.4 + 3 1025 c.550G>T c.(550-552)Gca>Tca p.A184S SON_ENST00000290239.6_Missense_Mutation_p.A184S|SON_ENST00000381679.4_Missense_Mutation_p.A184S|SON_ENST00000300278.4_Missense_Mutation_p.A184S|SON_ENST00000381692.2_Intron NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 72 TGAATCCCCTGCAGTTGTGCT 0.448000 OREG0003564 type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 SO:0001583 missense ENST00000356577.4 1 1 hg19 CCDS13629.1 . . . . . . . . . . G 13.26 2.185090 0.38609 . . ENSG00000159140 ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679 T;T;T;T 0.14144 2.72;2.71;2.71;2.53 5.77 -1.16 0.09678 . 0.483837 0.19324 N 0.117068 T 0.07324 0.0185 N 0.24115 0.695 0.09310 N 1 P;P;P 0.46859 0.817;0.885;0.794 B;B;B 0.43052 0.23;0.406;0.406 T 0.23119 -1.0197 10 0.62326 D 0.03 . 1.2414 0.01964 0.1591:0.2573:0.3049:0.2787 . 184;184;184 P18583;P18583-3;P18583-6 SON_HUMAN;.;. S 184 ENSP00000348984:A184S;ENSP00000290239:A184S;ENSP00000300278:A184S;ENSP00000371095:A184S ENSP00000290239:A184S A + 1 0 SON 33843957 0.268000 0.24133 0.147000 0.22382 0.381000 0.30169 0.044000 0.13992 -0.100000 0.12241 0.655000 0.94253 GCA TCGA-HZ-A77P-01A-11D-A33T-08 SON-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000140978.2 1 0 1 55 416 0 75 1 9.909461e-01 7 50 0 75 2 0 0 0 0 0 2 1 1.000000 55 415 0 75 2 0 0 0 0 75 2 -19.855490 1 1 0 0 1 1 2 3 2.005489 0 0.220000 1.990000 0.221712 0.990000 0.810000 1.000000 1.000000 0.975696 0.990000 1 9.300000e-01 1 SEZ6L 23544 broad.mit.edu 37 22 26743709 26743709 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr22:26743709C>T ENST00000248933.6 + 11 2332 c.2237C>T c.(2236-2238)tCg>tTg p.S746L SEZ6L_ENST00000403121.1_Missense_Mutation_p.S519L|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000360929.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.S746L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.S746L|SEZ6L_ENST00000529632.2_Missense_Mutation_p.S746L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.S519L Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 80 GACTCCTGCTCGGATTTACCC 0.517000 0 SO:0001583 missense ENST00000248933.6 1 1 hg19 CCDS13833.1 . . . . . . . . . . C 18.29 3.592053 0.66219 . . ENSG00000100095 ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979 T;T;T;T;T;T;T 0.64991 -0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13 4.88 3.84 0.44239 Complement control module (2);Sushi/SCR/CCP (3); 0.161209 0.29100 N 0.013144 T 0.47764 0.1463 L 0.35487 1.065 0.80722 D 1 B;B;B;P;B;B;B 0.35208 0.429;0.192;0.083;0.49;0.228;0.115;0.115 B;B;B;B;B;B;B 0.28305 0.088;0.08;0.016;0.081;0.081;0.08;0.08 T 0.57136 -0.7863 10 0.72032 D 0.01 . 12.7022 0.57041 0.0:0.9192:0.0:0.0808 . 746;746;519;746;746;746;746 B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1 .;.;.;.;.;.;SE6L1_HUMAN L 746;746;746;746;746;519;519 ENSP00000384772:S746L;ENSP00000437037:S746L;ENSP00000354185:S746L;ENSP00000248933:S746L;ENSP00000342661:S746L;ENSP00000384838:S519L;ENSP00000384733:S519L ENSP00000248933:S746L S + 2 0 SEZ6L 25073709 1.000000 0.71417 0.963000 0.40424 0.901000 0.52897 5.529000 0.67135 2.543000 0.85770 0.655000 0.94253 TCG TCGA-HZ-A77P-01A-11D-A33T-08 SEZ6L-005 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000320359.3 1 0 1 43 330 0 38 0 0 0 1 0 38 2 0 0 0 0 0 2 1 1.000000 42 325 0 36 2 0 0 0 0 38 2 -2.966615 1 1 121412 4 37 1 1 2 3 2.015543 0 0.220000 1.990000 0.225114 0.990000 0.780000 1.000000 1.000000 0.969113 0.990000 1 9.100000e-01 1 UGP2 7360 broad.mit.edu 37 2 64117237 64117237 + Missense_Mutation SNP T T C TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 T C T T Valid Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr2:64117237T>C ENST00000337130.5 + 9 1813 c.1337T>C c.(1336-1338)tTt>tCt p.F446S UGP2_ENST00000394417.2_Missense_Mutation_p.F435S|UGP2_ENST00000467648.2_Missense_Mutation_p.F435S|UGP2_ENST00000445915.2_Missense_Mutation_p.F455S NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 18 CTAAGAAGATTTGAAAGTATA 0.303000 0 SO:0001583 missense ENST00000337130.5 1 1 hg19 CCDS1875.1 . . . . . . . . . . T 28.0 4.881893 0.91740 . . ENSG00000169764 ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915 T;T;T;T 0.19394 2.15;2.15;2.15;2.15 5.82 5.82 0.92795 . 0.044427 0.85682 D 0.000000 T 0.59514 0.2199 H 0.94183 3.505 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 1.0;1.0 T 0.72127 -0.4384 10 0.87932 D 0 -9.7442 16.1814 0.81903 0.0:0.0:0.0:1.0 . 455;446 E7EUC7;Q16851 .;UGPA_HUMAN S 435;435;446;455 ENSP00000377939:F435S;ENSP00000420793:F435S;ENSP00000338703:F446S;ENSP00000411803:F455S ENSP00000338703:F446S F + 2 0 UGP2 63970741 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 8.040000 0.89188 2.234000 0.73211 0.533000 0.62120 TTT TCGA-HZ-A77P-01A-11D-A33T-08 UGP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251688.1 1 0 0 28 278 0 34 1 1 30 374 0 34 2 0 0 0 0 0 2 1 1.000000 27 276 0 34 2 0 0 0 0 34 2 -20.000000 1 1 0 0 1 0 1 1 1.995445 0 0.220000 1.990000 0.216553 0.820000 0.560000 1.000000 1.000000 0.829437 0.820000 0 6.800000e-01 9.800000e-01 NFKBIZ 64332 broad.mit.edu 37 3 101574269 101574269 + Missense_Mutation SNP C C A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr3:101574269C>A ENST00000326172.5 + 8 1736 c.1621C>A c.(1621-1623)Cag>Aag p.Q541K NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q441K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q419K NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 24 GGGAAGTAATCAGTTTGTGGA 0.413000 0 SO:0001583 missense ENST00000326172.5 1 1 hg19 CCDS2946.1 . . . . . . . . . . C 22.5 4.294456 0.81025 . . ENSG00000144802 ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172 T;T;T;T 0.35236 1.32;1.32;1.32;1.32 5.66 5.66 0.87406 Ankyrin repeat-containing domain (3); 0.000000 0.64402 D 0.000002 T 0.43919 0.1269 N 0.16708 0.43 0.54753 D 0.99998 P;D 0.53885 0.907;0.963 P;P 0.60682 0.568;0.878 T 0.36065 -0.9763 10 0.42905 T 0.14 -20.6546 19.7324 0.96188 0.0:1.0:0.0:0.0 . 419;541 Q9BYH8-3;Q9BYH8 .;IKBZ_HUMAN K 441;441;419;541 ENSP00000419800:Q441K;ENSP00000377618:Q441K;ENSP00000325593:Q419K;ENSP00000325663:Q541K ENSP00000325593:Q419K Q + 1 0 NFKBIZ 103056959 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 4.654000 0.61469 2.663000 0.90544 0.655000 0.94253 CAG TCGA-HZ-A77P-01A-11D-A33T-08 NFKBIZ-003 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000353793.1 1 0 1 59 458 0 68 1 9.176416e-01 6 28 0 68 2 0 0 0 0 0 2 1 1.000000 59 452 0 68 2 0 0 0 0 68 2 -3.142702 1 1 0 0 1 1 2 3 2.007888 0 0.220000 1.990000 0.223417 0.990000 0.800000 1.000000 1.000000 0.971361 0.990000 1 9.100000e-01 1 MYH15 22989 broad.mit.edu 37 3 108110745 108110745 + Missense_Mutation SNP C C A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr3:108110745C>A ENST00000273353.3 - 38 5408 c.5352G>T c.(5350-5352)aaG>aaT p.K1784N NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 105 TGGTGTCTTGCTTCTTCTTCA 0.428000 0 SO:0001583 missense ENST00000273353.3 1 1 hg19 CCDS43127.1 . . . . . . . . . . C 16.36 3.101562 0.56183 . . ENSG00000144821 ENST00000273353 T 0.77489 -1.1 5.62 0.606 0.17559 Myosin tail (1); . . . . T 0.65709 0.2717 N 0.19112 0.55 0.34830 D 0.739586 B 0.29671 0.254 B 0.39465 0.3 T 0.65212 -0.6223 9 0.87932 D 0 . 5.9578 0.19283 0.121:0.6092:0.0:0.2698 . 1784 Q9Y2K3 MYH15_HUMAN N 1784 ENSP00000273353:K1784N ENSP00000273353:K1784N K - 3 2 MYH15 109593435 1.000000 0.71417 0.823000 0.32752 0.870000 0.49936 1.227000 0.32576 0.040000 0.15660 0.655000 0.94253 AAG TCGA-HZ-A77P-01A-11D-A33T-08 MYH15-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000353935.1 0 0 1 88 755 1 114 0 0 0 1 114 2 0 0 0 0 0 2 1 1.000000 89 750 0 114 2 0 0 0 1 114 2 -20.000000 1 1 0 0 1 1 2 3 2.007888 0 0.220000 1.990000 0.223417 0.950000 0.770000 1.000000 1.000000 0.938259 0.950000 1 8.500000e-01 1 SPSB4 92369 broad.mit.edu 37 3 140866041 140866041 + Missense_Mutation SNP G G A rs79933965 TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr3:140866041G>A ENST00000310546.2 + 3 1496 c.752G>A c.(751-753)cGc>cAc p.R251H SPSB4_ENST00000507895.1_3'UTR NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 4 GCCCTGGGCCGCCAGCGCCTG 0.617000 0 SO:0001583 missense ENST00000310546.2 1 1 hg19 CCDS3115.1 . . . . . . . . . . G 28.1 4.892680 0.91889 0.0 1.16E-4 ENSG00000175093 ENST00000310546 T 0.47528 0.84 5.67 5.67 0.87782 SOCS protein, C-terminal (3); 0.000000 0.85682 D 0.000000 T 0.49029 0.1533 M 0.72353 2.195 0.47621 D 0.999479 B 0.31655 0.334 B 0.28011 0.085 T 0.45789 -0.9237 10 0.34782 T 0.22 -25.8085 17.2564 0.87057 0.0:0.0:1.0:0.0 . 251 Q96A44 SPSB4_HUMAN H 251 ENSP00000311609:R251H ENSP00000311609:R251H R + 2 0 SPSB4 142348731 1.000000 0.71417 1.000000 0.80357 0.982000 0.71751 7.577000 0.82486 2.676000 0.91093 0.561000 0.74099 CGC TCGA-HZ-A77P-01A-11D-A33T-08 SPSB4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000359727.1 1 0 0 27 257 0 48 0 5.078390e-02 0 4 0 48 2 0 0 0 0 0 2 1 1.000000 25 254 0 47 2 0 0 0 0 48 2 -2.774726 1 1 121412 1 32 1 1 2 3 2.007888 0 0.220000 1.990000 0.223417 0.870000 0.590000 1.000000 1.000000 0.864220 0.870000 1 7.200000e-01 1 SCN5A 6331 broad.mit.edu 37 3 38622673 38622673 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr3:38622673C>T ENST00000333535.4 - 17 3126 c.2977G>A c.(2977-2979)Gca>Aca p.A993T SCN5A_ENST00000450102.2_Missense_Mutation_p.A993T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A993T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A993T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A993T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A993T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A993T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A993T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A993T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A993T Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 107 Medulloblastoma(35;0.163) Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909) GCAAGGGCTGCGGGCTTCTGA 0.692000 0 SO:0001583 missense ENST00000333535.4 0 1 hg19 CCDS46796.1 . . . . . . . . . . C 2.132 -0.398935 0.04865 . . ENSG00000183873 ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557 D;D;D;D;D;D;D;D;D;D 0.83755 -1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76 5.38 2.53 0.30540 Sodium ion transport-associated (1); 1.066670 0.07154 N 0.849551 T 0.76104 0.3941 L 0.42245 1.32 0.09310 N 1 B;B;B;B;B;B;B 0.10296 0.001;0.002;0.003;0.001;0.001;0.002;0.001 B;B;B;B;B;B;B 0.08055 0.003;0.003;0.002;0.003;0.003;0.003;0.002 T 0.54925 -0.8220 10 0.13853 T 0.58 . 9.7536 0.40490 0.0:0.7672:0.0:0.2328 . 993;993;993;993;993;993;993 E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2 .;.;.;.;SCN5A_HUMAN;.;. T 993 ENSP00000398962:A993T;ENSP00000398266:A993T;ENSP00000410257:A993T;ENSP00000388797:A993T;ENSP00000397915:A993T;ENSP00000416634:A993T;ENSP00000328968:A993T;ENSP00000399524:A993T;ENSP00000403355:A993T;ENSP00000413996:A993T ENSP00000328968:A993T A - 1 0 SCN5A 38597677 0.014000 0.17966 0.000000 0.03702 0.045000 0.14185 0.343000 0.19944 0.221000 0.20879 0.561000 0.74099 GCA TCGA-HZ-A77P-01A-11D-A33T-08 SCN5A-014 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000377958.1 1 0 1 15 100 0 21 0 1.970158e-02 0 2 0 21 2 0 0 0 0 0 2 1 0.999910 15 100 0 20 2 0 0 0 0 21 2 -3.332992 1 1 120716 2 26 1 1 2 3 2.007888 0 0.220000 1.990000 0.223417 0.990000 0.710000 1.000000 1.000000 0.969221 0.990000 1 9.300000e-01 1 LETM1 3954 broad.mit.edu 37 4 1838239 1838239 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr4:1838239G>A ENST00000302787.2 - 4 951 c.655C>T c.(655-657)Ccg>Tcg p.P219S NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TCCATGAACGGCACCACCACG 0.557000 0 SO:0001583 missense ENST00000302787.2 0 1 hg19 CCDS3355.1 . . . . . . . . . . G 27.5 4.839614 0.91117 . . ENSG00000168924 ENST00000302787;ENST00000417150 T 0.79033 -1.23 4.01 4.01 0.46588 LETM1-like (1); 0.000000 0.85682 D 0.000000 D 0.90099 0.6907 M 0.92412 3.305 0.80722 D 1 D;D 0.76494 0.999;0.998 D;D 0.69479 0.964;0.948 D 0.93036 0.6453 10 0.87932 D 0 -35.3303 16.3116 0.82873 0.0:0.0:1.0:0.0 . 219;219 O95202-3;O95202 .;LETM1_HUMAN S 219;179 ENSP00000305653:P219S ENSP00000305653:P219S P - 1 0 LETM1 1808037 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 9.506000 0.97992 2.077000 0.62373 0.563000 0.77884 CCG TCGA-HZ-A77P-01A-11D-A33T-08 LETM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000241634.1 0 0 0 8 543 0 64 0 1.587078e-01 0 43 0 64 2 0 0 0 0 0 2 1 0.988974 8 537 0 63 2 0 0 0 0 64 2 -2.626279 1 1 0 0 1 1 2 3 2.013189 0 0.220000 1.990000 0.224267 0.140000 0.060000 1.000000 0.130000 0.180194 0.140000 0 9.000000e-02 2.100000e-01 SNX2 6643 broad.mit.edu 37 5 122163297 122163297 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:122163297G>A ENST00000379516.2 + 14 1573 c.1465G>A c.(1465-1467)Gtt>Att p.V489I SNX2_ENST00000514949.1_Missense_Mutation_p.V372I|SNX2_ENST00000510372.1_3'UTR NM_003100.2 NP_003091.2 O60749 SNX2_HUMAN sorting nexin 2 p.V489I(1) 19 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) TTTTAAAACCGTTATCATCAA 0.299000 1 Substitution - Missense(1) SO:0001583 missense ENST00000379516.2 1 1 hg19 CCDS34217.1 . . . . . . . . . . G 11.10 1.539584 0.27563 . . ENSG00000205302 ENST00000379516;ENST00000514949 T;T 0.57907 0.37;0.37 5.72 4.85 0.62838 Vps5 C-terminal (1); 0.118494 0.64402 D 0.000018 T 0.32823 0.0842 N 0.11255 0.115 0.41069 D 0.985434 B 0.02656 0.0 B 0.06405 0.002 T 0.12268 -1.0554 10 0.14252 T 0.57 -0.4711 15.1561 0.72743 0.068:0.0:0.932:0.0 . 489 O60749 SNX2_HUMAN I 489;372 ENSP00000368831:V489I;ENSP00000421663:V372I ENSP00000368831:V489I V + 1 0 SNX2 122191196 1.000000 0.71417 1.000000 0.80357 0.987000 0.75469 4.406000 0.59748 1.551000 0.49450 0.650000 0.86243 GTT TCGA-HZ-A77P-01A-11D-A33T-08 SNX2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000371392.1 1 0 0 23 230 0 41 1 1 12 308 0 41 2 0 0 0 0 0 2 1 1.000000 23 230 0 41 2 0 0 0 0 41 2 -8.892238 1 1 121404 1 31 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.830000 0.550000 1.000000 1.000000 0.834756 0.830000 0 6.800000e-01 1 ADAMTS19 171019 broad.mit.edu 37 5 129037148 129037148 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:129037148G>A ENST00000274487.4 + 20 3149 c.3004G>A c.(3004-3006)Gcc>Acc p.A1002T ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGACAAGTGGCCTGTACCCA 0.532000 0 SO:0001583 missense ENST00000274487.4 1 1 hg19 CCDS4146.1 . . . . . . . . . . G 10.92 1.487084 0.26686 . . ENSG00000145808 ENST00000274487 T 0.50813 0.73 4.0 3.13 0.36017 . 0.088465 0.44902 D 0.000406 T 0.15478 0.0373 N 0.00869 -1.13 0.38121 D 0.93784 B 0.14012 0.009 B 0.15052 0.012 T 0.09037 -1.0693 9 . . . . 9.1005 0.36664 0.1723:0.0:0.8277:0.0 . 1002 Q8TE59 ATS19_HUMAN T 1002 ENSP00000274487:A1002T . A + 1 0 ADAMTS19 129065047 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 3.694000 0.54742 1.273000 0.44346 0.650000 0.86243 GCC TCGA-HZ-A77P-01A-11D-A33T-08 ADAMTS19-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000250979.2 1 0 1 47 398 0 78 0 1.169265e-02 0 2 0 78 2 0 0 0 0 0 2 1 1.000000 47 392 0 78 2 0 0 0 0 78 2 -16.446480 1 0 0 0 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.960000 0.720000 1.000000 1.000000 0.934026 0.960000 1 8.300000e-01 1 PCDHGA3 56112 broad.mit.edu 37 5 140725483 140725483 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:140725483C>T ENST00000253812.6 + 1 1883 c.1883C>T c.(1882-1884)aCg>aTg p.T628M PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGTGCGCACGGCGCGAGCC 0.697000 0 SO:0001583 missense ENST00000253812.6 0 1 hg19 CCDS47290.1 . . . . . . . . . . . 22.0 4.230592 0.79688 . . ENSG00000254245 ENST00000253812 T 0.56941 0.43 5.27 5.27 0.74061 Cadherin (4);Cadherin-like (1); 0.000000 0.34110 U 0.004248 T 0.80586 0.4651 H 0.95402 3.665 0.40444 D 0.980074 D;D 0.89917 1.0;0.998 D;D 0.64776 0.928;0.929 D 0.86843 0.2018 10 0.72032 D 0.01 . 18.9241 0.92537 0.0:1.0:0.0:0.0 . 628;628 Q9Y5H0-2;Q9Y5H0 .;PCDG3_HUMAN M 628 ENSP00000253812:T628M ENSP00000253812:T628M T + 2 0 PCDHGA3 140705667 1.000000 0.71417 0.994000 0.49952 0.987000 0.75469 7.478000 0.81082 2.636000 0.89361 0.558000 0.71614 ACG TCGA-HZ-A77P-01A-11D-A33T-08 PCDHGA3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000377017.1 1 0 0 46 386 0 76 0 0 0 0 76 2 0 0 0 0 0 2 1 0.999998 18 147 0 130 2 0 0 0 0 76 2 -20.000000 1 1 0 0 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.970000 0.720000 1.000000 1.000000 0.937655 0.970000 1 8.400000e-01 1 PCDHGB1 56104 broad.mit.edu 37 5 140729951 140729951 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:140729951G>A ENST00000523390.1 + 1 124 c.124G>A c.(124-126)Ggc>Agc p.G42S PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTAGCCAACGGCTCACGGGT 0.527000 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000523390.1 0 1 hg19 CCDS54923.1 . . . . . . . . . . . 27.1 4.796737 0.90453 . . ENSG00000254221 ENST00000523390 T 0.51574 0.7 5.52 5.52 0.82312 Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1); . . . . T 0.78923 0.4360 H 0.95260 3.645 0.39854 D 0.97328 D;D 0.76494 0.998;0.999 D;D 0.71870 0.947;0.975 D 0.85452 0.1161 9 0.72032 D 0.01 . 19.4222 0.94726 0.0:0.0:1.0:0.0 . 42;42 Q9Y5G3-2;Q9Y5G3 .;PCDGD_HUMAN S 42 ENSP00000429273:G42S ENSP00000429273:G42S G + 1 0 PCDHGB1 140710135 1.000000 0.71417 0.999000 0.59377 0.840000 0.47671 6.223000 0.72257 2.756000 0.94617 0.563000 0.77884 GGC TCGA-HZ-A77P-01A-11D-A33T-08 PCDHGB1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374740.1 1 0 0 13 145 0 19 0 8.152174e-03 0 2 0 19 2 0 0 0 0 0 2 1 0.999553 13 142 0 19 2 0 0 0 0 19 2 -6.687618 1 1 0 0 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.760000 0.430000 1.000000 1.000000 0.771383 0.760000 0 5.800000e-01 1 PCDHGC3 5098 broad.mit.edu 37 5 140856777 140856777 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:140856777C>T ENST00000308177.3 + 1 1198 c.1094C>T c.(1093-1095)gCc>gTc p.A365V PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCGAGGATGCCCCTCTGGGG 0.582000 0 SO:0001583 missense ENST00000308177.3 0 1 hg19 CCDS4261.1 . . . . . . . . . . C 26.1 4.706593 0.89018 . . ENSG00000240184 ENST00000308177 T 0.55588 0.51 5.49 5.49 0.81192 Cadherin (3);Cadherin-like (1); . . . . T 0.69450 0.3112 L 0.54965 1.715 0.39337 D 0.965512 D;D 0.89917 0.999;1.0 D;D 0.75020 0.985;0.984 T 0.68375 -0.5425 9 0.48119 T 0.1 . 19.5755 0.95441 0.0:1.0:0.0:0.0 . 365;365 Q9UN70;Q9UN70-2 PCDGK_HUMAN;. V 365 ENSP00000312070:A365V ENSP00000312070:A365V A + 2 0 PCDHGC3 140836961 1.000000 0.71417 0.981000 0.43875 0.990000 0.78478 5.915000 0.69973 2.865000 0.98341 0.655000 0.94253 GCC TCGA-HZ-A77P-01A-11D-A33T-08 PCDHGC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251808.2 0 0 0 5 259 0 36 0 3.301946e-01 1 52 0 36 2 0 0 0 0 0 2 1 0.938126 5 259 0 36 2 0 0 0 0 36 2 -4.029790 1 0 0 0 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.190000 0.060000 1.000000 0.170000 0.226192 0.190000 0 1.100000e-01 2.900000e-01 ARAP3 64411 broad.mit.edu 37 5 141044614 141044614 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:141044614G>A ENST00000239440.4 - 19 2740 c.2675C>T c.(2674-2676)aCg>aTg p.T892M ARAP3_ENST00000508305.1_Missense_Mutation_p.T794M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T554M|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 53 GTTCCATGCCGTGAAGTCCAG 0.657000 OREG0016871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 SO:0001583 missense ENST00000239440.4 0 1 hg19 CCDS4266.1 . . . . . . . . . . G 11.60 1.687765 0.29962 . . ENSG00000120318 ENST00000508305;ENST00000239440;ENST00000513878 T;T;T 0.29655 1.56;1.56;1.56 4.83 4.83 0.62350 Pleckstrin homology domain (1); 0.555087 0.17874 N 0.159088 T 0.19127 0.0459 N 0.24115 0.695 0.24003 N 0.996205 B;B;B 0.27498 0.155;0.18;0.113 B;B;B 0.23574 0.047;0.01;0.005 T 0.12142 -1.0559 10 0.16896 T 0.51 . 11.2395 0.48962 0.0843:0.0:0.9157:0.0 . 554;794;892 B4DIT1;G5E9Y3;Q8WWN8 .;.;ARAP3_HUMAN M 794;892;554 ENSP00000421826:T794M;ENSP00000239440:T892M;ENSP00000421468:T554M ENSP00000239440:T892M T - 2 0 ARAP3 141024798 0.979000 0.34478 0.993000 0.49108 0.395000 0.30598 4.406000 0.59748 2.518000 0.84900 0.650000 0.86243 ACG TCGA-HZ-A77P-01A-11D-A33T-08 ARAP3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000251805.1 0 0 0 5 189 0 28 1 3.199931e-01 2 36 0 28 2 0 0 0 0 0 2 1 0.935778 5 186 0 27 2 0 0 0 0 28 2 -3.551343 1 0 121408 1 30 1 1 2 3 2.009179 0 0.220000 1.990000 0.223417 0.250000 0.090000 1.000000 0.240000 0.295417 0.250000 0 1.600000e-01 4.000000e-01 AHRR 57491 broad.mit.edu 37 5 434517 434517 + Missense_Mutation SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr5:434517G>T ENST00000505113.1 + 11 1718 c.1674G>T c.(1672-1674)tgG>tgT p.W558C AHRR_ENST00000316418.5_Missense_Mutation_p.W576C|AHRR_ENST00000512529.1_Missense_Mutation_p.W404C|AHRR_ENST00000506456.1_Missense_Mutation_p.W414C NM_001242412.1 NP_001229341.1 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GCCAGGTGTGGCTGGGGGCCA 0.607000 0 SO:0001583 missense ENST00000505113.1 1 1 hg19 CCDS56355.1 . . . . . . . . . . G 11.24 1.580075 0.28180 . . ENSG00000063438 ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487 T;T;T;T;T 0.73152 0.77;0.82;0.59;0.58;-0.72 4.74 2.94 0.34122 . 0.201899 0.46758 N 0.000278 T 0.74512 0.3726 L 0.36672 1.1 0.54753 D 0.999981 B;D;D 0.89917 0.023;1.0;1.0 B;D;D 0.91635 0.024;0.998;0.999 T 0.72903 -0.4151 10 0.56958 D 0.05 . 9.5858 0.39514 0.0:0.1544:0.6854:0.1602 . 414;558;576 D6RE68;A9YTQ3;A9YTQ3-2 .;AHRR_HUMAN;. C 558;576;404;414;213 ENSP00000424601:W558C;ENSP00000323816:W576C;ENSP00000424880:W404C;ENSP00000426932:W414C;ENSP00000426076:W213C ENSP00000323816:W576C W + 3 0 AHRR 487517 1.000000 0.71417 0.841000 0.33234 0.040000 0.13550 3.498000 0.53302 0.523000 0.28482 0.555000 0.69702 TGG TCGA-HZ-A77P-01A-11D-A33T-08 AHRR-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000367720.1 1 0 0 18 201 0 39 0 0 0 0 39 2 0 0 0 0 0 2 1 0.999975 17 189 0 38 2 0 0 0 0 39 2 -19.999940 1 1 0 0 1 0 0 0 1.989587 0 0.220000 1.990000 0.213075 0.740000 0.460000 1.000000 1.000000 0.753867 0.740000 0 5.900000e-01 9.200000e-01 BTN3A1 11119 broad.mit.edu 37 6 26406286 26406286 + Missense_Mutation SNP T T C TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr6:26406286T>C ENST00000289361.6 + 3 603 c.235T>C c.(235-237)Tat>Cat p.Y79H BTN3A1_ENST00000425234.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000414912.2_Missense_Mutation_p.Y79H|BTN3A1_ENST00000476549.2_Missense_Mutation_p.Y79H NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 28 GGTGAACGTGTATGCAGATGG 0.562000 0 SO:0001583 missense ENST00000289361.6 1 1 hg19 CCDS4608.1 . . . . . . . . . . . 13.89 2.371832 0.42003 . . ENSG00000026950 ENST00000476549;ENST00000289361;ENST00000450085;ENST00000425234;ENST00000506698;ENST00000414912 T;T;T;T;T;T 0.64803 -0.12;-0.12;-0.12;-0.12;4.1;-0.12 2.21 -3.57 0.04612 Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1); . . . . T 0.56217 0.1970 M 0.67625 2.065 0.09310 N 1 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.91635 0.999;0.999;0.999;0.999 T 0.50725 -0.8794 9 0.54805 T 0.06 . 4.3804 0.11291 0.0:0.3702:0.1798:0.4499 . 79;79;79;79 E9PGB4;O00481-3;O00481-2;O00481 .;.;.;BT3A1_HUMAN H 79 ENSP00000420010:Y79H;ENSP00000289361:Y79H;ENSP00000394937:Y79H;ENSP00000396684:Y79H;ENSP00000427013:Y79H;ENSP00000406667:Y79H ENSP00000289361:Y79H Y + 1 0 BTN3A1 26514265 0.000000 0.05858 0.000000 0.03702 0.336000 0.28762 -0.501000 0.06398 -0.918000 0.03808 0.454000 0.30748 TAT TCGA-HZ-A77P-01A-11D-A33T-08 BTN3A1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040112.3 0 0 0 63 575 0 105 0 4.141757e-01 1 13 0 105 2 0 0 0 0 0 2 1 1.000000 52 528 0 151 2 0 0 0 0 105 2 -20.000000 1 1 0 0 1 0 0 0 1.977284 0 0.220000 1.990000 0.207800 0.870000 0.680000 1.000000 1.000000 0.880828 0.870000 1 7.700000e-01 9.900000e-01 GPX5 2880 broad.mit.edu 37 6 28501886 28501886 + Missense_Mutation SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr6:28501886C>T ENST00000412168.2 + 5 697 c.608C>T c.(607-609)aCg>aTg p.T203M GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 16 Glutathione(DB00143) CACCGGGCTACGGTCAGCTCA 0.522000 0 SO:0001583 missense ENST00000412168.2 1 1 hg19 CCDS4652.1 . . . . . . . . . . C 7.568 0.666106 0.14710 0.0 1.16E-4 ENSG00000224586 ENST00000412168 T 0.04194 3.68 4.52 2.7 0.31948 Thioredoxin-like fold (2); 0.659654 0.15691 N 0.249449 T 0.02727 0.0082 M 0.63843 1.955 0.09310 N 1 D 0.59767 0.986 P 0.44772 0.46 T 0.40117 -0.9580 10 0.48119 T 0.1 -14.0316 7.4322 0.27134 0.1803:0.73:0.0:0.0897 . 203 O75715 GPX5_HUMAN M 203 ENSP00000392398:T203M ENSP00000392398:T203M T + 2 0 GPX5 28609865 0.001000 0.12720 0.001000 0.08648 0.010000 0.07245 1.329000 0.33770 0.793000 0.33875 -0.119000 0.15052 ACG TCGA-HZ-A77P-01A-11D-A33T-08 GPX5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043672.2 1 0 1 50 403 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 1.000000 50 398 0 67 2 0 0 0 0 67 2 -20.000000 1 1 121412 2 34 1 0 0 0 1.977284 0 0.220000 1.990000 0.207800 0.980000 0.740000 1.000000 1.000000 0.945063 0.980000 1 8.500000e-01 1 TAF2 6873 broad.mit.edu 37 8 120770369 120770369 + Silent SNP A A G TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr8:120770369A>G ENST00000378164.2 - 21 3010 c.2712T>C c.(2710-2712)taT>taC p.Y904Y TAF2_ENST00000519355.1_5'UTR NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GCAGTTCTTCATAACTTCTGT 0.289000 0 SO:0001819 synonymous_variant ENST00000378164.2 1 1 hg19 CCDS34937.1 TCGA-HZ-A77P-01A-11D-A33T-08 TAF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000381436.1 1 0 0 63 616 0 80 1 9.419205e-01 5 43 0 80 2 0 0 0 0 0 2 1 1.000000 62 614 0 80 2 0 0 0 0 80 2 -20.000000 1 1 0 0 1 0 1 1 1.991446 0 0.220000 1.990000 0.215686 0.830000 0.650000 1.000000 1.000000 0.841758 0.830000 0 7.300000e-01 9.400000e-01 XPO7 23039 broad.mit.edu 37 8 21846540 21846540 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr8:21846540G>A ENST00000252512.9 + 16 1914 c.1814G>A c.(1813-1815)cGt>cAt p.R605H XPO7_ENST00000433566.4_Missense_Mutation_p.R606H|XPO7_ENST00000434536.1_Missense_Mutation_p.R614H NM_015024.4 NP_055839.3 Q9UIA9 XPO7_HUMAN exportin 7 36 TACTGGGGCCGTTGTGAACCA 0.448000 0 SO:0001583 missense ENST00000252512.9 1 1 hg19 CCDS47818.1 . . . . . . . . . . G 13.95 2.390951 0.42410 . . ENSG00000130227 ENST00000434536;ENST00000252512;ENST00000433566 T;T;T 0.65916 -0.18;-0.18;-0.18 5.89 5.89 0.94794 Armadillo-type fold (1); 0.052693 0.85682 D 0.000000 T 0.50240 0.1604 N 0.16656 0.425 0.80722 D 1 B;B;B 0.12630 0.006;0.0;0.0 B;B;B 0.08055 0.003;0.001;0.001 T 0.36359 -0.9751 10 0.37606 T 0.19 -10.0541 19.8455 0.96706 0.0:0.0:1.0:0.0 . 606;614;605 E7ESC6;E9PEN8;Q9UIA9 .;.;XPO7_HUMAN H 614;605;606 ENSP00000404853:R614H;ENSP00000252512:R605H;ENSP00000410249:R606H ENSP00000252512:R605H R + 2 0 XPO7 21902486 1.000000 0.71417 0.997000 0.53966 0.999000 0.98932 7.327000 0.79147 2.800000 0.96347 0.650000 0.86243 CGT TCGA-HZ-A77P-01A-11D-A33T-08 XPO7-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375494.1 1 0 0 17 148 0 27 1 9.690950e-01 11 42 0 27 2 0 0 0 0 0 2 1 0.999971 16 147 0 27 2 0 0 0 0 27 2 -19.999960 1 1 120856 3 31 1 0 1 1 1.793560 1 0.220000 1.990000 0.127907 0.790000 0.500000 1.000000 1.000000 0.789070 0.790000 0 6.300000e-01 9.400000e-01 CNBD1 168975 broad.mit.edu 37 8 88365930 88365930 + Missense_Mutation SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr8:88365930G>A ENST00000518476.1 + 10 1270 c.1219G>A c.(1219-1221)Gtc>Atc p.V407I NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 p.V407I(1) 32 TGAGATTAGCGTCCTTCTTCA 0.323000 1 Substitution - Missense(1) SO:0001583 missense ENST00000518476.1 1 1 hg19 CCDS55259.1 . . . . . . . . . . G 10.57 1.388099 0.25118 2.72E-4 2.45E-4 ENSG00000176571 ENST00000518476 D 0.92397 -3.03 4.98 2.73 0.32206 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2); 0.322185 0.21804 N 0.068869 T 0.75273 0.3827 N 0.11560 0.145 0.09310 N 1 P 0.36647 0.563 B 0.28011 0.085 T 0.69789 -0.5050 10 0.05351 T 0.99 -13.7869 6.2957 0.21085 0.2887:0.0:0.7113:0.0 . 407 Q8NA66 CNBD1_HUMAN I 407 ENSP00000430073:V407I ENSP00000430073:V407I V + 1 0 CNBD1 88435046 0.171000 0.23029 0.437000 0.26809 0.931000 0.56810 -0.057000 0.11768 0.288000 0.22398 0.555000 0.69702 GTC TCGA-HZ-A77P-01A-11D-A33T-08 CNBD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000375113.2 1 0 1 32 221 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 1.000000 32 218 0 31 2 0 0 0 0 31 2 -6.203033 1 1 120800 12 42 1 0 1 1 1.991446 0 0.220000 1.990000 0.215686 0.990000 0.800000 1.000000 1.000000 0.980532 0.990000 1 9.600000e-01 1 MATN2 4147 broad.mit.edu 37 8 99045355 99045355 + Silent SNP C C T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chr8:99045355C>T ENST00000520016.1 + 16 2791 c.2667C>T c.(2665-2667)gaC>gaT p.D889D MATN2_ENST00000522025.2_Silent_p.D605D|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Silent_p.D870D|MATN2_ENST00000524308.1_Silent_p.D848D|MATN2_ENST00000254898.5_Silent_p.D889D O00339 MATN2_HUMAN matrilin 2 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TTGAAGAAGACAATCTTTTAC 0.358000 0 SO:0001819 synonymous_variant ENST00000520016.1 0 1 hg19 CCDS55264.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 8.191|8.191 0.795925|0.795925 0.16327|0.16327 .|. .|. ENSG00000132561|ENSG00000132561 ENST00000518154|ENST00000519582;ENST00000522135 .|. .|. .|. 5.76|5.76 1.72|1.72 0.24424|0.24424 .|. .|. .|. .|. .|. .|T .|0.51736 .|0.1692 .|. .|. .|. 0.80722|0.80722 D|D 1|1 .|. .|. .|. .|. .|. .|. .|T .|0.42899 .|-0.9424 .|4 .|. .|. .|. -37.6152|-37.6152 5.185|5.185 0.15180|0.15180 0.0:0.5998:0.1496:0.2506|0.0:0.5998:0.1496:0.2506 .|. .|. .|. .|. X|I 653|126;52 .|. .|. Q|T +|+ 1|2 0|0 MATN2|MATN2 99114531|99114531 0.064000|0.064000 0.20934|0.20934 0.989000|0.989000 0.46669|0.46669 0.981000|0.981000 0.71138|0.71138 -0.162000|-0.162000 0.10012|0.10012 0.790000|0.790000 0.33803|0.33803 -0.137000|-0.137000 0.14449|0.14449 CAA|ACA TCGA-HZ-A77P-01A-11D-A33T-08 MATN2-004 KNOWN non_canonical_conserved|basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000380332.1 1 0 0 6 81 0 14 1 9.998933e-01 14 312 0 14 2 0 0 0 0 0 2 1 0.962897 5 79 0 14 2 0 0 0 0 14 2 -10.722830 1 1 0 0 1 0 1 1 1.991446 0 0.220000 1.990000 0.215686 0.640000 0.270000 1.000000 1.000000 0.665287 0.640000 0 4.300000e-01 9.100000e-01 PPP2R3B 28227 broad.mit.edu 37 X 299380 299380 + Silent SNP G G T TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chrX:299380G>T ENST00000390665.3 - 12 1554 c.1536C>A c.(1534-1536)atC>atA p.I512I NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCCACCAGGATGTCGTACT 0.692000 0 SO:0001819 synonymous_variant ENST00000390665.3 1 1 hg19 CCDS14104.1 TCGA-HZ-A77P-01A-11D-A33T-08 PPP2R3B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055577.2 1 0 0 13 155 0 25 1 6.725906e-01 5 24 0 25 2 0 0 0 0 0 2 1 0.999550 13 153 0 25 2 0 0 0 0 25 2 -8.393803 1 1 0 0 1 0 1 1 0.220000 1.990000 0.220000 0.350000 0.190000 0.550000 0.340000 0.366476 0.350000 0 2.600000e-01 4.600000e-01 CXorf36 79742 broad.mit.edu 37 X 45011191 45011191 + Silent SNP G G A TCGA-HZ-A77P-01A-11D-A33T-08 TCGA-HZ-A77P-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx d2c1de61-378f-4a8c-b062-44c00d0a4cfd cd18be6d-031e-446d-a3ed-4ca43606c221 g.chrX:45011191G>A ENST00000398000.2 - 5 1082 c.1008C>T c.(1006-1008)agC>agT p.S336S CXorf36_ENST00000477281.1_5'UTR NM_176819.3 NP_789789.2 Q9H7Y0 DIA1R_HUMAN chromosome X open reading frame 36 7 AAACCAGGCAGCTAAAAATGT 0.542000 0 SO:0001819 synonymous_variant ENST00000398000.2 0 1 hg19 CCDS48096.1 TCGA-HZ-A77P-01A-11D-A33T-08 CXorf36-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000056333.2 1 0 1 8 24 0 10 0 9.678263e-01 0 22 0 10 2 0 0 0 0 0 2 1 0.990223 8 22 0 10 2 0 0 0 0 10 2 -17.704660 1 1 118268 2 29 1 0 1 1 0.220000 1.990000 0.220000 0.820000 0.470000 0.990000 0.990000 0.807820 0.820000 0 6.500000e-01 9.500000e-01