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 ROCK1 6093 broad.mit.edu 37 18 18608802 18608802 + Frame_Shift_Del DEL A A - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr18:18608802delA ENST00000399799.2 - 10 2086 c.1146delT c.(1144-1146)cctfs p.P382fs NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 16 Melanoma(1;0.165) CTTTAGGAATAGGGAATGTTT 0.358000 0 SO:0001589 frameshift_variant ENST00000399799.2 1 1 hg19 CCDS11870.2 TCGA-HZ-8005-01A-11D-2201-08 ROCK1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000254641.2 1 0 0 92 585 0 115 1 9.742560e-01 2 37 0 115 2 0 0 0 0 1 1.000000 91 578 0 113 2 0 0 0 0 0 0 -2.364554 0 1 0 0 1 0 0 0 2.033512 0 0.360000 1.820000 0.348269 0.730000 0.600000 0.880000 0.740000 0.745152 0.730000 0 0.660000 0.810000 MAP1LC3A 84557 broad.mit.edu 37 20 33147601 33147604 + Frame_Shift_Del DEL GTGA GTGA - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 GTGA - GTGA GTGA Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr20:33147601_33147604delGTGA ENST00000360668.3 + 4 1026_1029 c.265_268delGTGA c.(265-270)gtgagtfs p.VS91fs MAP1LC3A_ENST00000397709.1_Frame_Shift_Del_p.VS91fs|MAP1LC3A_ENST00000374837.3_Frame_Shift_Del_p.VS95fs|MAP1LC3A_ENST00000476428.1_3'UTR Q9H492 MLP3A_HUMAN microtubule-associated protein 1 light chain 3 alpha 5 GCACAGCATGGTGAGTGTGTCCAC 0.618000 0 SO:0001589 frameshift_variant ENST00000360668.3 1 1 hg19 CCDS13238.1 TCGA-HZ-8005-01A-11D-2201-08 MAP1LC3A-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000078801.2 1 0 0 170 755 0 154 1 1 21 126 0 154 2 0 0 0 0 1 1.000000 236 792 6 160 58 0 0 0 0 0 0 -2.931444 1 1 0 0 1 1 2 3 2.302192 1 0.360000 1.820000 0.436123 0.990000 0.990000 1.000000 1.000000 0.999555 0.990000 1 0.990000 1.000000 MRPS30 10884 broad.mit.edu 37 5 44815246 44815255 + Frame_Shift_Del DEL TAGTTCACTT TAGTTCACTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:44815246_44815255delTAGTTCACTT ENST00000507110.1 + 5 1300_1309 c.1262_1271delTAGTTCACTT c.(1261-1272)atagttcactttfs p.IVHF421fs NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 20 Lung NSC(6;8.08e-07) CTACTTCAGATAGTTCACTTTCTACTGAAT 0.319000 0 SO:0001589 frameshift_variant ENST00000507110.1 0 1 hg19 CCDS3951.1 TCGA-HZ-8005-01A-11D-2201-08 MRPS30-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214033.2 1 0 0 22 216 0 55 0 9.878037e-01 0 72 0 55 2 0 0 0 0 1 0.733022 34 227 2 58 21 0 0 0 0 0 0 -20.000000 1 1 0 0 1 0 0 0 2.013809 0 0.360000 1.820000 0.341021 0.500000 0.320000 0.710000 0.500000 0.512892 0.500000 0 0.400000 0.610000 NCOA2 10499 broad.mit.edu 37 8 71071800 71071803 + Frame_Shift_Del DEL AGTT AGTT - TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:71071800_71071803delAGTT ENST00000452400.2 - 10 1242_1245 c.1061_1064delAACT c.(1060-1065)aaactcfs p.KL354fs NCOA2_ENST00000524223.1_5'Flank NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 PAX3/NCOA2(4)|HEY1/NCOA2(10) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGAACGGATGAGTTTGCTCTTCGT 0.402000 T RUNXBP2, HEY1 AML, Chondrosarcoma Dom yes 8 8q13.1 10499 nuclear receptor coactivator 2 (TIF2) L 0 SO:0001589 frameshift_variant ENST00000452400.2 1 1 hg19 CCDS47872.1 TCGA-HZ-8005-01A-11D-2201-08 NCOA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379696.1 1 0 0 141 853 0 144 1 8.193667e-01 3 18 0 144 2 0 0 0 0 1 1.000000 174 847 1 144 23 0 0 0 0 0 0 -20.000000 1 1 0 0 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.820000 0.690000 1.000000 0.810000 0.846575 0.820000 0 0.750000 0.970000 CDKN2A 1029 broad.mit.edu 37 9 21971143 21971144 + Frame_Shift_Ins INS - - A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 - A - - Valid Somatic Phase_I WXS targeted Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:21971143_21971144insA ENST00000304494.5 - 2 484_485 c.214_215insT c.(214-216)tgcfs p.C72fs CDKN2A_ENST00000530628.2_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000579755.1_Frame_Shift_Ins_p.L86fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.C72fs|CDKN2A_ENST00000361570.3_Frame_Shift_Ins_p.L127fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.C21fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.C72fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.C21fs NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A p.0?(1315)|p.?(44)|p.E61_L94del(1)|p.0(1)|p.C72S(1)|p.C72Y(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.C72G(1)|p.A68fs*3(1)|p.C72fs*71(1) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) GGGGTCGGCGCAGTTGGGCTCC 0.713000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 1368 Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(4)|Substitution - Missense(3)|Deletion - In frame(1) SO:0001589 frameshift_variant ENST00000304494.5 0 1 hg19 CCDS6510.1 TCGA-HZ-8005-01A-11D-2201-08 CDKN2A-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000051915.1 1 0 0 13 88 0 17 1 1 7 516 0 17 2 1 9.998923e-01 28 91 0 68 2 1 0.999718 15 81 0 15 2 0 0 0 0 0 0 -19.994250 1 1 0 0 1 0 2 2 1.889507 1 0.360000 1.820000 0.360000 0.760000 0.420000 1.000000 1.000000 0.771724 0.760000 0 0.570000 1.000000 SEC31B 25956 broad.mit.edu 37 10 102249858 102249858 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:102249858G>A ENST00000370345.3 - 21 2969 c.2872C>T c.(2872-2874)Cct>Tct p.P958S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 36 Colorectal(252;0.117) AAGCTTGCAGGAGGGGCTGGG 0.617000 0 SO:0001583 missense ENST00000370345.3 1 1 hg19 CCDS7495.1 . . . . . . . . . . G 8.072 0.770537 0.15983 . . ENSG00000075826 ENST00000370345 T 0.56275 0.47 5.37 3.44 0.39384 . 0.000000 0.85682 D 0.000000 T 0.47284 0.1437 M 0.70275 2.135 0.80722 D 1 P;P 0.36412 0.472;0.552 B;B 0.33521 0.165;0.064 T 0.51426 -0.8707 10 0.59425 D 0.04 -6.728 7.5146 0.27593 0.0908:0.1658:0.7435:0.0 . 957;958 Q9NQW1-5;Q9NQW1 .;SC31B_HUMAN S 958 ENSP00000359370:P958S ENSP00000359370:P958S P - 1 0 SEC31B 102239848 0.998000 0.40836 0.924000 0.36721 0.048000 0.14542 1.939000 0.40213 1.256000 0.44068 0.561000 0.74099 CCT TCGA-HZ-8005-01A-11D-2201-08 SEC31B-003 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051198.1 1 0 1 102 454 0 99 0 1.581886e-01 0 4 0 99 2 0 0 0 0 0 2 1 1.000000 102 445 0 97 2 0 0 0 0 99 2 -3.225289 1 1 0 0 1 0 1 1 1.904045 0 0.360000 1.820000 0.302224 0.920000 0.770000 1.000000 1.000000 0.925503 0.920000 1 0.840000 1.000000 PSD 5662 broad.mit.edu 37 10 104163099 104163099 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:104163099G>A ENST00000020673.5 - 17 3459 c.2933C>T c.(2932-2934)gCc>gTc p.A978V PSD_ENST00000406432.1_Missense_Mutation_p.A978V NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 34 CCCGGCCTGGGCCAGTGCTGC 0.642000 0 SO:0001583 missense ENST00000020673.5 1 1 hg19 CCDS31272.1 . . . . . . . . . . G 10.44 1.350837 0.24512 . . ENSG00000059915 ENST00000020673;ENST00000541902;ENST00000406432 T;T 0.17854 2.25;2.25 4.62 3.67 0.42095 . 0.179711 0.40554 N 0.001066 T 0.11281 0.0275 L 0.38175 1.15 0.28948 N 0.890587 B;B;B 0.32051 0.354;0.227;0.125 B;B;B 0.32465 0.071;0.146;0.096 T 0.07966 -1.0745 10 0.45353 T 0.12 . 2.9344 0.05810 0.1017:0.1876:0.54:0.1708 . 978;881;599 A5PKW4;Q86YI3;A5PKW4-2 PSD1_HUMAN;.;. V 978;881;978 ENSP00000020673:A978V;ENSP00000384830:A978V ENSP00000020673:A978V A - 2 0 PSD 104153089 0.998000 0.40836 1.000000 0.80357 0.160000 0.22226 1.737000 0.38197 2.403000 0.81681 0.313000 0.20887 GCC TCGA-HZ-8005-01A-11D-2201-08 PSD-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000050041.2 1 0 0 26 363 0 60 1 9.184895e-01 2 60 0 60 2 0 0 0 0 0 2 1 1.000000 26 352 0 60 2 0 0 0 0 60 2 -7.500543 1 1 121410 1 32 1 0 1 1 1.904045 0 0.360000 1.820000 0.302224 0.340000 0.220000 0.480000 0.340000 0.349784 0.340000 0 0.270000 0.410000 PCDH15 65217 broad.mit.edu 37 10 55566772 55566772 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr10:55566772C>A ENST00000373965.2 - 36 5016 c.4622G>T c.(4621-4623)aGt>aTt p.S1541I PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 p.S1538N(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTGATATTACTGTGGATACT 0.453000 HNSCC(58;0.16) 1 Substitution - Missense(1) SO:0001583 missense ENST00000373965.2 1 1 hg19 . . . . . . . . . . C 15.19 2.759997 0.49468 . . ENSG00000150275 ENST00000373965;ENST00000414778;ENST00000455746 T;T 0.65364 -0.15;-0.15 5.6 4.59 0.56863 . . . . . T 0.44644 0.1303 L 0.47716 1.5 0.80722 D 1 P;P 0.39216 0.664;0.664 B;B 0.27500 0.08;0.08 T 0.54886 -0.8226 9 0.87932 D 0 . 3.092 0.06297 0.0:0.5059:0.2678:0.2263 . 1532;1538 C6ZEF7;C9J4F3 .;. I 1541;1538;1534 ENSP00000363076:S1541I;ENSP00000410304:S1538I ENSP00000363076:S1541I S - 2 0 PCDH15 55236778 1.000000 0.71417 0.999000 0.59377 0.969000 0.65631 1.394000 0.34509 2.627000 0.88993 0.655000 0.94253 AGT TCGA-HZ-8005-01A-11D-2201-08 PCDH15-008 NOVEL not_organism_supported|basic protein_coding protein_coding OTTHUMT00000291336.1 0 0 0 23 244 0 64 0 0 0 0 64 2 0 0 0 0 0 2 1 0.999999 23 240 0 64 2 0 0 0 0 64 2 -20.000000 1 1 0 0 1 0 1 1 1.904045 0 0.360000 1.820000 0.302224 0.430000 0.280000 0.620000 0.430000 0.450706 0.430000 0 0.350000 0.530000 PPP2R1B 5519 broad.mit.edu 37 11 111624222 111624222 + Missense_Mutation SNP T T C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:111624222T>C ENST00000527614.1 - 9 1174 c.1109A>G c.(1108-1110)aAa>aGa p.K370R PPP2R1B_ENST00000393055.2_Missense_Mutation_p.K243R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.K209R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.K306R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.K370R|PPP2R1B_ENST00000341980.6_Intron NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) GGTATTTTCTTTGCCCAAAAT 0.338000 0 SO:0001583 missense ENST00000527614.1 1 1 hg19 CCDS8349.1 . . . . . . . . . . T 16.69 3.193625 0.58017 . . ENSG00000137713 ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000393055 T;T;T;T;T 0.32753 1.44;1.44;1.44;1.44;1.44 5.73 5.73 0.89815 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.25791 0.0628 L 0.33137 0.985 0.52501 D 0.999952 B;B;B;B;B 0.18013 0.025;0.0;0.001;0.0;0.003 B;B;B;B;B 0.18871 0.01;0.001;0.006;0.001;0.023 T 0.03095 -1.1073 10 0.39692 T 0.17 -18.4605 13.9672 0.64216 0.0:0.0:0.0:1.0 . 243;209;306;370;370 A8MY67;B7Z1G3;B4DWW5;P30154;P30154-2 .;.;.;2AAB_HUMAN;. R 370;243;306;370;209;243 ENSP00000311344:K370R;ENSP00000410671:K306R;ENSP00000437193:K370R;ENSP00000415759:K209R;ENSP00000376775:K243R ENSP00000311344:K370R K - 2 0 PPP2R1B 111129432 1.000000 0.71417 1.000000 0.80357 0.904000 0.53231 7.509000 0.81698 2.180000 0.69256 0.533000 0.62120 AAA TCGA-HZ-8005-01A-11D-2201-08 PPP2R1B-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000391298.1 1 0 1 39 199 0 53 1 7.315343e-01 5 10 0 53 2 0 0 0 0 0 2 1 1.000000 39 195 0 53 2 0 0 0 0 53 2 -20.000000 1 1 0 0 1 0 0 0 2.060589 0 0.360000 1.820000 0.357688 0.900000 0.660000 1.000000 1.000000 0.893788 0.900000 1 0.770000 1.000000 DSCAML1 57453 broad.mit.edu 37 11 117299205 117299205 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:117299205C>T ENST00000321322.6 - 33 6182 c.6181G>A c.(6181-6183)Gct>Act p.A2061T DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1791T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) GGAGGGGCAGCGCTGGGGGCG 0.731000 0 SO:0001583 missense ENST00000321322.6 0 1 hg19 CCDS8384.1 . . . . . . . . . . C 3.405 -0.121412 0.06838 . . ENSG00000177103 ENST00000527706;ENST00000321322;ENST00000446508 T;T 0.60920 0.19;0.15 4.8 -1.8 0.07907 . . . . . T 0.27900 0.0687 N 0.08118 0 0.22446 N 0.999099 B 0.28880 0.226 B 0.20184 0.028 T 0.16748 -1.0392 9 0.16896 T 0.51 . 6.3973 0.21618 0.0:0.3772:0.1962:0.4265 . 2001 Q8TD84 DSCL1_HUMAN T 1791;2061;1768 ENSP00000434335:A1791T;ENSP00000315465:A2061T ENSP00000315465:A2061T A - 1 0 DSCAML1 116804415 0.004000 0.15560 0.004000 0.12327 0.046000 0.14306 0.286000 0.18902 -0.373000 0.07979 0.313000 0.20887 GCT TCGA-HZ-8005-01A-11D-2201-08 DSCAML1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000392907.2 1 0 0 11 89 0 17 1 1.484866e-02 2 0 0 17 2 0 0 0 0 0 2 1 0.998487 11 87 0 17 2 0 0 0 0 17 2 -18.512830 1 1 115846 5 31 1 0 0 0 2.060589 0 0.360000 1.820000 0.357688 0.610000 0.330000 0.980000 1.000000 0.637149 0.610000 0 0.460000 0.800000 OR10G9 219870 broad.mit.edu 37 11 123894473 123894473 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:123894473G>A ENST00000375024.1 + 1 754 c.754G>A c.(754-756)Gtt>Att p.V252I NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) TTGCTTTTTTGTTCCCTGTGT 0.542000 0 SO:0001583 missense ENST00000375024.1 1 1 hg19 CCDS31703.1 . . . . . . . . . . G 0.013 -1.619019 0.00828 . . ENSG00000236981 ENST00000375024 T 0.37915 1.17 3.35 1.38 0.22167 GPCR, rhodopsin-like superfamily (1); 0.666360 0.12267 N 0.484157 T 0.23611 0.0571 L 0.43152 1.355 0.20307 N 0.999916 B 0.06786 0.001 B 0.15052 0.012 T 0.36187 -0.9758 10 0.02654 T 1 . 7.4128 0.27027 0.1005:0.1691:0.7304:0.0 . 252 Q8NGN4 O10G9_HUMAN I 252 ENSP00000364164:V252I ENSP00000364164:V252I V + 1 0 OR10G9 123399683 0.000000 0.05858 0.733000 0.30861 0.764000 0.43329 0.040000 0.13905 0.234000 0.21139 -1.247000 0.01520 GTT TCGA-HZ-8005-01A-11D-2201-08 OR10G9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000387269.1 1 0 1 119 578 0 114 0 0 0 0 114 2 0 0 0 0 0 2 1 1.000000 118 567 0 110 2 0 0 0 0 114 2 -20.000000 1 1 0 0 1 0 0 0 2.060589 0 0.360000 1.820000 0.357688 0.940000 0.790000 1.000000 1.000000 0.935431 0.940000 1 0.860000 1.000000 OR4S1 256148 broad.mit.edu 37 11 48328426 48328426 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:48328426A>G ENST00000319988.1 + 1 652 c.652A>G c.(652-654)Atc>Gtc p.I218V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 21 TTCCTATGTTATCATCTTACT 0.468000 0 SO:0001583 missense ENST00000319988.1 1 1 hg19 CCDS31488.1 . . . . . . . . . . A 0 -2.812081 0.00073 . . ENSG00000176555 ENST00000319988 T 0.00076 8.76 5.02 -0.0613 0.13785 GPCR, rhodopsin-like superfamily (1); . . . . T 0.00039 0.0001 N 0.00652 -1.29 0.09310 N 1 B 0.02656 0.0 B 0.08055 0.003 T 0.14699 -1.0463 9 0.02654 T 1 . 8.1535 0.31154 0.4876:0.0:0.5124:0.0 . 218 Q8NGB4 OR4S1_HUMAN V 218 ENSP00000321447:I218V ENSP00000321447:I218V I + 1 0 OR4S1 48285002 0.000000 0.05858 0.132000 0.22025 0.008000 0.06430 -0.029000 0.12329 0.061000 0.16311 -0.177000 0.13119 ATC TCGA-HZ-8005-01A-11D-2201-08 OR4S1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000390556.1 1 0 1 73 632 0 134 0 0 0 0 134 2 0 0 0 0 0 2 1 1.000000 71 613 0 134 2 0 0 0 0 134 2 -20.000000 1 1 0 0 1 1 2 3 2.077687 0 0.360000 1.820000 0.362296 0.570000 0.450000 0.730000 0.580000 0.586219 0.570000 0 0.510000 0.650000 OR5I1 10798 broad.mit.edu 37 11 55703122 55703122 + Missense_Mutation SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:55703122A>T ENST00000301532.3 - 1 754 c.755T>A c.(754-756)aTc>aAc p.I252N NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 52 CCCTTGGTAGATCGTCACTGA 0.428000 0 SO:0001583 missense ENST00000301532.3 1 1 hg19 CCDS7949.1 . . . . . . . . . . A 12.20 1.867312 0.32977 . . ENSG00000167825 ENST00000301532 T 0.00211 8.54 5.16 4.02 0.46733 GPCR, rhodopsin-like superfamily (1); 0.000000 0.48286 D 0.000192 T 0.00552 0.0018 M 0.87456 2.885 0.25640 N 0.986215 D 0.76494 0.999 D 0.87578 0.998 T 0.33111 -0.9881 10 0.87932 D 0 . 7.0082 0.24848 0.8205:0.0:0.1795:0.0 . 252 Q13606 OR5I1_HUMAN N 252 ENSP00000301532:I252N ENSP00000301532:I252N I - 2 0 OR5I1 55459698 0.411000 0.25384 0.428000 0.26697 0.111000 0.19643 5.207000 0.65197 0.893000 0.36288 0.523000 0.50628 ATC TCGA-HZ-8005-01A-11D-2201-08 OR5I1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000391528.1 1 0 0 9 163 0 31 0 0 0 0 31 2 0 0 0 0 0 2 1 0.994146 9 160 0 31 2 0 0 0 0 31 2 -12.314750 1 1 0 0 1 0 0 0 2.060589 0 0.360000 1.820000 0.357688 0.290000 0.140000 0.510000 0.280000 0.314834 0.290000 0 0.210000 0.410000 CNGA4 1262 broad.mit.edu 37 11 6265298 6265298 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:6265298A>G ENST00000379936.2 + 6 1502 c.1387A>G c.(1387-1389)Atc>Gtc p.I463V NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) AGCACAGACCATCATGGAGGA 0.552000 0 SO:0001583 missense ENST00000379936.2 1 1 hg19 CCDS31408.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 A 0.009 -1.801041 0.00611 . . ENSG00000132259 ENST00000379936 D 0.96651 -4.08 5.19 2.34 0.29019 Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1); 0.302345 0.31507 N 0.007531 D 0.84101 0.5398 N 0.02751 -0.505 0.20821 N 0.999842 B 0.02656 0.0 B 0.01281 0.0 T 0.73503 -0.3962 10 0.05620 T 0.96 . 4.5823 0.12264 0.3302:0.1519:0.5179:0.0 . 463 Q8IV77 CNGA4_HUMAN V 463 ENSP00000369268:I463V ENSP00000369268:I463V I + 1 0 CNGA4 6221874 0.000000 0.05858 0.384000 0.26145 0.471000 0.32888 0.124000 0.15728 0.369000 0.24510 -0.804000 0.03201 ATC TCGA-HZ-8005-01A-11D-2201-08 CNGA4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000383765.2 1 0 1 150 406 0 94 0 0 0 0 94 2 0 0 0 0 0 2 1 1.000000 140 396 0 92 2 0 0 0 0 94 2 -20.000000 1 1 121412 2 38 1 1 2 3 2.226276 1 0.360000 1.820000 0.404983 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 DENND5A 23258 broad.mit.edu 37 11 9166560 9166560 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 A G A A Inconclusive Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr11:9166560A>G ENST00000328194.3 - 18 3424 c.3104T>C c.(3103-3105)aTc>aCc p.I1035T DENND5A_ENST00000527700.1_Missense_Mutation_p.I378T|DENND5A_ENST00000530044.1_Missense_Mutation_p.I1035T NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 39 ATGTCCTGTGATCTCATTCCT 0.493000 0 SO:0001583 missense ENST00000328194.3 1 1 hg19 CCDS31423.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 23.5|23.5 4.429149|4.429149 0.83776|0.83776 .|. .|. ENSG00000184014|ENSG00000184014 ENST00000328194;ENST00000530044;ENST00000527700|ENST00000525784 T;T;T|. 0.64260|. -0.09;-0.09;-0.09|. 5.59|5.59 5.59|5.59 0.84812|0.84812 Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);|. 0.044753|. 0.85682|. D|. 0.000000|. T|T 0.52208|0.52208 0.1720|0.1720 N|N 0.21373|0.21373 0.66|0.66 0.80722|0.80722 D|D 1|1 P;B|. 0.48503|. 0.911;0.43|. P;P|. 0.56216|. 0.794;0.697|. T|T 0.49428|0.49428 -0.8941|-0.8941 10|5 0.42905|. T|. 0.14|. .|. 14.9507|14.9507 0.71071|0.71071 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 1035;1035|. E9PS91;Q6IQ26|. .;DEN5A_HUMAN|. T|P 1035;1035;378|83 ENSP00000328524:I1035T;ENSP00000435866:I1035T;ENSP00000432549:I378T|. ENSP00000328524:I1035T|. I|S -|- 2|1 0|0 DENND5A|DENND5A 9123136|9123136 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.998000|0.998000 0.95712|0.95712 6.325000|6.325000 0.72901|0.72901 2.122000|2.122000 0.65172|0.65172 0.528000|0.528000 0.53228|0.53228 ATC|TCA TCGA-HZ-8005-01A-11D-2201-08 DENND5A-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000385910.2 0 0 1 142 750 0 143 0 9.994289e-01 1 58 0 143 2 0 0 0 0 0 2 1 1.000000 139 735 0 141 2 0 0 0 0 143 2 -20.000000 1 1 0 0 1 1 2 3 2.226276 1 0.360000 1.820000 0.404983 0.970000 0.810000 1.000000 1.000000 0.955642 0.970000 1 0.880000 1.000000 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 T G T T Valid Somatic Phase_I WXS KRAS_deep Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:25380275T>G ENST00000256078.4 - 3 246 c.183A>C c.(181-183)caA>caC p.Q61H KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H NM_033360.2 NP_203524.1 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog p.Q61H(153) UBE2L3/KRAS(2) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis pancreatic, colorectal, lung, thyroid, AML, others Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) Dom yes 12 12p12.1 3845 v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog L, E, M, O 153 Substitution - Missense(153) SO:0001583 missense Familial Cancer Database Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS ENST00000256078.4 1 1 hg19 CCDS8703.1 . . . . . . . . . . T 21.3 4.133750 0.77662 . . ENSG00000133703 ENST00000311936;ENST00000256078 D;D 0.84146 -1.81;-1.81 5.77 5.77 0.91146 Small GTP-binding protein domain (1); 0.049057 0.85682 D 0.000000 D 0.87265 0.6134 M 0.91140 3.18 0.80722 D 1 B;B 0.33413 0.411;0.09 B;B 0.32724 0.092;0.151 D 0.87829 0.2643 10 0.72032 D 0.01 . 9.9836 0.41828 0.0:0.0752:0.0:0.9248 . 61;61 P01116-2;P01116 .;RASK_HUMAN H 61 ENSP00000308495:Q61H;ENSP00000256078:Q61H ENSP00000256078:Q61H Q - 3 2 KRAS 25271542 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 2.240000 0.43088 2.326000 0.78906 0.533000 0.62120 CAA TCGA-HZ-8005-01A-11D-2201-08 KRAS-004 KNOWN not_organism_supported|basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000412232.1 1 0 1 103 283 0 77 1 9.999519e-01 28 15 0 77 2 1 1 332 1001 0 915 2 1 1.000000 103 282 0 77 2 1 1 2222 5800 0 77 2 -20.000000 1 1 0 0 1 0 1 1 2.016122 0 0.360000 1.820000 0.327307 0.990000 0.990000 1.000000 1.000000 0.999998 0.990000 1 0.990000 1.000000 KRT84 3890 broad.mit.edu 37 12 52779007 52779007 + Silent SNP G G C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:52779007G>C ENST00000257951.3 - 1 429 c.363C>G c.(361-363)ggC>ggG p.G121G RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 27 all_hematologic(5;0.12) TGTAACCAAAGCCAGGGCCAC 0.577000 0 SO:0001819 synonymous_variant ENST00000257951.3 1 1 hg19 CCDS8825.1 TCGA-HZ-8005-01A-11D-2201-08 KRT84-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000405187.1 1 0 0 88 1117 0 204 0 0 0 0 204 2 0 0 0 0 0 2 1 1.000000 88 1094 0 199 2 0 0 0 0 204 2 -16.603180 1 1 0 0 1 0 1 1 2.016122 0 0.360000 1.820000 0.327307 0.380000 0.300000 0.460000 0.380000 0.389071 0.380000 0 0.340000 0.430000 NACA 4666 broad.mit.edu 37 12 57110765 57110765 + Missense_Mutation SNP G G C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr12:57110765G>C ENST00000454682.1 - 3 4830 c.4549C>G c.(4549-4551)Cca>Gca p.P1517A NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron NM_001113203.2 NP_001106674.2 E9PAV3 NACAM_HUMAN nascent polypeptide-associated complex alpha subunit 10 GGGGTAGCTGGGACCTCTTTG 0.587000 T BCL6 NHL Dom yes 12 12q23-q24.1 4666 nascent-polypeptide-associated complex alpha polypeptide L 0 SO:0001583 missense ENST00000454682.1 1 1 hg19 . . . . . . . . . . G 9.906 1.208201 0.22205 . . ENSG00000196531 ENST00000454682 T 0.55234 0.53 2.96 -0.127 0.13510 . . . . . T 0.28699 0.0711 . . . 0.09310 N 1 B 0.22080 0.064 B 0.18263 0.021 T 0.16041 -1.0416 7 . . . . 1.6713 0.02812 0.114:0.1778:0.3461:0.3622 . 1517 E9PAV3 . A 1517 ENSP00000403817:P1517A . P - 1 0 NACA 55397032 0.005000 0.15991 0.000000 0.03702 0.236000 0.25371 0.396000 0.20867 -0.025000 0.13918 0.298000 0.19748 CCA TCGA-HZ-8005-01A-11D-2201-08 NACA-201 KNOWN basic protein_coding protein_coding 0 0 0 36 602 0 86 0 0 1 0 0 86 2 0 0 0 0 0 2 1 1.000000 36 593 0 84 2 0 0 0 0 86 2 -7.045672 1 1 0 0 1 0 1 1 2.016122 0 0.360000 1.820000 0.327307 0.290000 0.210000 0.400000 0.300000 0.304579 0.290000 0 0.250000 0.350000 HSP90AA1 3320 broad.mit.edu 37 14 102552342 102552342 + Silent SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 A T A A Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:102552342A>T ENST00000216281.8 - 3 487 c.282T>A c.(280-282)acT>acA p.T94T HSP90AA1_ENST00000334701.7_Silent_p.T216T|HSP90AA1_ENST00000441629.2_Intron NM_005348.3 NP_005339.3 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 28 Nedocromil(DB00716)|Rifabutin(DB00615) TTCCAATTCCAGTATCCACAA 0.433000 0 SO:0001819 synonymous_variant ENST00000216281.8 1 1 hg19 CCDS9967.1 TCGA-HZ-8005-01A-11D-2201-08 HSP90AA1-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000414952.2 1 0 1 66 396 0 86 1 1 608 523 0 86 2 0 0 0 0 0 2 1 1.000000 62 371 0 90 2 0 0 0 0 86 2 -20.000000 1 1 0 0 1 0 1 1 1.871888 1 0.360000 1.820000 0.298092 0.710000 0.560000 0.880000 0.720000 0.727699 0.710000 0 0.640000 0.810000 DAAM1 23002 broad.mit.edu 37 14 59820665 59820665 + Missense_Mutation SNP T T C TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:59820665T>C ENST00000395125.1 + 19 2392 c.2369T>C c.(2368-2370)gTg>gCg p.V790A DAAM1_ENST00000360909.3_Missense_Mutation_p.V780A|DAAM1_ENST00000351081.1_Missense_Mutation_p.V790A|DAAM1_ENST00000553966.1_Intron NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 37 GTGGCAGAAGTGAAACCTAAA 0.363000 0 SO:0001583 missense ENST00000395125.1 1 1 hg19 CCDS9737.1 . . . . . . . . . . t 14.69 2.610615 0.46527 . . ENSG00000100592 ENST00000360909;ENST00000351081;ENST00000395125 T;T;T 0.18810 2.19;2.19;2.19 6.03 6.03 0.97812 Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3); 0.050329 0.85682 D 0.000000 T 0.19406 0.0466 N 0.20304 0.555 0.51012 D 0.999904 B;B 0.29341 0.242;0.213 B;B 0.37091 0.162;0.241 T 0.09250 -1.0683 10 0.30854 T 0.27 . 16.5808 0.84714 0.0:0.0:0.0:1.0 . 780;790 Q9Y4D1-2;Q9Y4D1 .;DAAM1_HUMAN A 780;790;790 ENSP00000354162:V780A;ENSP00000247170:V790A;ENSP00000378557:V790A ENSP00000247170:V790A V + 2 0 DAAM1 58890418 1.000000 0.71417 1.000000 0.80357 0.994000 0.84299 6.183000 0.72002 2.317000 0.78254 0.524000 0.50904 GTG TCGA-HZ-8005-01A-11D-2201-08 DAAM1-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276942.2 1 0 1 44 169 0 22 1 9.889714e-01 16 14 0 22 2 0 0 0 0 0 2 1 1.000000 44 167 0 22 2 0 0 0 0 22 2 -20.000000 1 1 0 0 1 0 1 1 1.871888 1 0.360000 1.820000 0.298092 0.990000 0.780000 1.000000 1.000000 0.966279 0.990000 1 0.900000 1.000000 EXD2 55218 broad.mit.edu 37 14 69704529 69704529 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:69704529C>T ENST00000409018.3 + 8 1658 c.1530C>T c.(1528-1530)ctC>ctT p.L510L EXD2_ENST00000409014.1_Silent_p.L385L|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.L385L|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409242.1_Silent_p.L385L|EXD2_ENST00000409949.1_Silent_p.L385L|EXD2_ENST00000312994.5_Silent_p.L510L|EXD2_ENST00000409675.1_Silent_p.L385L NM_001193361.1 NP_001180290.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 14 GGGCCCTGCTCAACGCGGAGA 0.612000 0 SO:0001819 synonymous_variant ENST00000409018.3 1 1 hg19 CCDS53902.1 TCGA-HZ-8005-01A-11D-2201-08 EXD2-002 PUTATIVE basic|appris_principal|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000335504.1 1 0 1 11 160 0 31 1 8.350760e-01 8 42 0 31 2 0 0 0 0 0 2 1 0.998404 11 158 0 31 2 0 0 0 0 31 2 -15.298350 1 1 0 0 1 0 1 1 1.871888 1 0.360000 1.820000 0.298092 0.330000 0.170000 0.540000 0.320000 0.346558 0.330000 0 0.240000 0.440000 PRIMA1 145270 broad.mit.edu 37 14 94245551 94245551 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr14:94245551G>A ENST00000393140.1 - 3 302 c.200C>T c.(199-201)cCg>cTg p.P67L PRIMA1_ENST00000316227.3_Missense_Mutation_p.P67L|PRIMA1_ENST00000393143.1_Missense_Mutation_p.P67L NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 7 all_cancers(154;0.127) gggaggtggcgggggtggggg 0.632000 0 SO:0001583 missense ENST00000393140.1 0 1 hg19 CCDS9912.1 . . . . . . . . . . g 10.84 1.462747 0.26248 . . ENSG00000175785 ENST00000393140;ENST00000393143;ENST00000316227 . . . 4.63 4.63 0.57726 . 0.000000 0.64402 D 0.000004 T 0.64283 0.2584 L 0.29908 0.895 0.52501 D 0.999955 D 0.89917 1.0 D 0.79108 0.992 T 0.67894 -0.5552 9 0.72032 D 0.01 -5.5528 13.0054 0.58701 0.0:0.0:1.0:0.0 . 67 Q86XR5 PRIMA_HUMAN L 67 . ENSP00000320948:P67L P - 2 0 PRIMA1 93315304 0.999000 0.42202 0.957000 0.39632 0.086000 0.17979 4.484000 0.60271 2.140000 0.66376 0.556000 0.70494 CCG TCGA-HZ-8005-01A-11D-2201-08 PRIMA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000280658.1 1 0 0 11 86 0 10 0 0 0 1 0 10 2 0 0 0 0 0 2 1 0.996645 12 70 0 9 2 0 0 0 0 10 2 -18.206020 1 1 0 0 1 0 1 1 1.871888 1 0.360000 1.820000 0.298092 0.570000 0.310000 0.920000 0.570000 0.598242 0.570000 0 0.430000 0.750000 GABRA5 2558 broad.mit.edu 37 15 27182336 27182336 + Silent SNP G G A rs149156018 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr15:27182336G>A ENST00000335625.5 + 8 1473 c.585G>A c.(583-585)gcG>gcA p.A195A GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.A195A|GABRA5_ENST00000355395.5_Silent_p.A195A NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198) ATACAGATGCGTACCCTAATT 0.493000 0 SO:0001819 synonymous_variant ENST00000335625.5 1 0 hg19 CCDS45194.1 TCGA-HZ-8005-01A-11D-2201-08 GABRA5-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000415234.1 1 0 1 70 333 0 96 0 0 0 0 96 2 0 0 0 0 0 2 1 1.000000 70 327 0 96 2 0 0 0 0 96 2 -3.082832 1 1 120914 144 55 1 0 1 1 1.703365 1 0.360000 1.820000 0.219512 0.780000 0.620000 0.940000 0.780000 0.789220 0.780000 0 0.700000 0.870000 CDH8 1006 broad.mit.edu 37 16 61935231 61935231 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:61935231G>A ENST00000577390.1 - 3 1353 c.399C>T c.(397-399)acC>acT p.T133T CDH8_ENST00000577730.1_Silent_p.T133T|CDH8_ENST00000299345.6_Silent_p.T133T|CDH8_ENST00000584337.1_Silent_p.T133T NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 112 Ovarian(137;0.0799)|Melanoma(118;0.16) GAGCTGTTAGGGTATACTCAG 0.418000 0 SO:0001819 synonymous_variant ENST00000577390.1 1 1 hg19 CCDS10802.1 TCGA-HZ-8005-01A-11D-2201-08 CDH8-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000268754.3 1 0 1 96 588 0 107 0 0 0 0 107 2 0 0 0 0 0 2 1 1.000000 95 578 0 105 2 0 0 0 0 107 2 -2.690417 1 1 0 0 1 1 2 3 2.398782 1 0.360000 1.820000 0.450927 0.910000 0.740000 1.000000 1.000000 0.912194 0.910000 1 0.820000 1.000000 ZFHX3 463 broad.mit.edu 37 16 72923765 72923765 + Nonsense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr16:72923765G>A ENST00000268489.5 - 4 3985 c.3313C>T c.(3313-3315)Cag>Tag p.Q1105* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.Q191* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 153 Ovarian(137;0.13) CGCACATGCTGGATGAGGTTG 0.592000 0 SO:0001587 stop_gained ENST00000268489.5 0 1 hg19 CCDS10908.1 . . . . . . . . . . G 50 16.503353 0.99865 . . ENSG00000140836 ENST00000268489;ENST00000397992 . . . 5.71 5.71 0.89125 . 0.000000 0.47852 D 0.000219 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.62326 D 0.03 . 19.8299 0.96631 0.0:0.0:1.0:0.0 . . . . X 1105;191 . ENSP00000268489:Q1105X Q - 1 0 ZFHX3 71481266 1.000000 0.71417 1.000000 0.80357 0.990000 0.78478 9.852000 0.99516 2.698000 0.92095 0.511000 0.50034 CAG TCGA-HZ-8005-01A-11D-2201-08 ZFHX3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000269008.1 1 0 1 44 297 0 52 1 4.316719e-01 2 9 0 52 2 0 0 0 0 0 2 1 1.000000 43 291 0 52 2 0 0 0 0 52 2 -2.921007 1 1 0 0 1 1 2 3 2.398782 1 0.360000 1.820000 0.450927 0.840000 0.620000 1.000000 1.000000 0.850469 0.840000 0 0.720000 1.000000 MYH4 4622 broad.mit.edu 37 17 10358056 10358056 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:10358056A>G ENST00000255381.2 - 22 2617 c.2507T>C c.(2506-2508)cTg>cCg p.L836P RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 149 CTTGAAATACAGCTTCATCCA 0.438000 0 SO:0001583 missense ENST00000255381.2 1 1 hg19 CCDS11154.1 . . . . . . . . . . A 20.3 3.966711 0.74131 . . ENSG00000141048 ENST00000255381 D 0.93426 -3.22 5.17 5.17 0.71159 . 0.000000 0.30101 U 0.010414 D 0.98166 0.9394 H 0.98980 4.39 0.80722 D 1 D 0.89917 1.0 D 0.79108 0.992 D 0.99758 1.1020 10 0.87932 D 0 . 15.3039 0.73976 1.0:0.0:0.0:0.0 . 836 Q9Y623 MYH4_HUMAN P 836 ENSP00000255381:L836P ENSP00000255381:L836P L - 2 0 MYH4 10298781 1.000000 0.71417 1.000000 0.80357 0.979000 0.70002 9.182000 0.94881 2.075000 0.62263 0.383000 0.25322 CTG TCGA-HZ-8005-01A-11D-2201-08 MYH4-001 KNOWN NAGNAG_splice_site|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000252731.1 1 0 1 101 427 0 111 0 0 0 0 111 2 0 0 0 0 0 2 1 1.000000 99 421 0 111 2 0 0 0 0 111 2 -20.000000 1 1 0 0 1 0 1 1 1.730727 1 0.360000 1.820000 0.219512 0.850000 0.710000 0.980000 0.870000 0.862012 0.850000 1 0.780000 0.930000 KCNJ12 3768 broad.mit.edu 37 17 21318768 21318768 + Silent SNP G G A rs139060766 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:21318768G>A ENST00000583088.1 + 3 1009 c.114G>A c.(112-114)acG>acA p.T38T KCNJ12_ENST00000331718.5_Silent_p.T38T NM_021012.4 NP_066292.2 Q14500 KCJ12_HUMAN potassium inwardly-rectifying channel, subfamily J, member 12 70 Dofetilide(DB00204)|Yohimbine(DB01392) AGGTGCACACGCGGCGCAGGT 0.622000 Prostate(3;0.18) 0 SO:0001819 synonymous_variant ENST00000583088.1 1 1 hg19 CCDS11219.1 TCGA-HZ-8005-01A-11D-2201-08 KCNJ12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000255060.2 0 0 0 24 294 0 60 0 2.116742e-01 0 11 0 60 2 0 0 0 0 0 2 1 1.000000 24 286 0 60 2 0 0 0 0 60 2 -20.000000 1 1 121412 19 36 1 0 1 1 1.730727 1 0.360000 1.820000 0.219512 0.340000 0.220000 0.480000 0.340000 0.351933 0.340000 0 0.270000 0.420000 WNK4 65266 broad.mit.edu 37 17 40940393 40940393 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:40940393C>T ENST00000246914.5 + 10 2029 c.2008C>T c.(2008-2010)Cgc>Tgc p.R670C WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 35 Breast(137;0.000143) GAATCTCCGGCGCAGACCCCG 0.577000 Esophageal Squamous(6;201 374 4964 23855 42828) 0 SO:0001583 missense ENST00000246914.5 1 1 hg19 CCDS11439.1 . . . . . . . . . . C 23.0 4.358468 0.82243 . . ENSG00000126562 ENST00000246914;ENST00000316085;ENST00000442804 T 0.34072 1.38 5.35 5.35 0.76521 . 0.000000 0.49305 D 0.000150 T 0.59459 0.2195 M 0.61703 1.905 0.49798 D 0.999823 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.85130 0.994;0.997;0.988;0.988 T 0.61959 -0.6955 10 0.87932 D 0 -15.3513 17.8301 0.88679 0.0:1.0:0.0:0.0 . 14;670;670;670 B4DXG4;Q96J92-3;B0LPI0;Q96J92 .;.;.;WNK4_HUMAN C 670;442;14 ENSP00000246914:R670C ENSP00000246914:R670C R + 1 0 WNK4 38193919 1.000000 0.71417 1.000000 0.80357 0.981000 0.71138 3.092000 0.50207 2.520000 0.84964 0.549000 0.68633 CGC TCGA-HZ-8005-01A-11D-2201-08 WNK4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452389.1 1 0 1 55 242 0 43 1 9.304192e-02 2 1 0 43 2 0 0 0 0 0 2 1 1.000000 55 238 0 43 2 0 0 0 0 43 2 -20.000000 1 1 121412 3 31 1 1 2 3 2.106500 0 0.360000 1.820000 0.366838 0.990000 0.800000 1.000000 1.000000 0.971287 0.990000 1 0.910000 1.000000 ACE 1636 broad.mit.edu 37 17 61561229 61561229 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:61561229C>G ENST00000290866.4 + 11 1630 c.1606C>G c.(1606-1608)Ctg>Gtg p.L536V ACE_ENST00000421982.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.L536V|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000413513.3_5'Flank NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 51 Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GAGTTTTGTCCTGCAGTTCCA 0.592000 0 SO:0001583 missense ENST00000290866.4 1 1 hg19 CCDS11637.1 . . . . . . . . . . C 14.40 2.523209 0.44866 . . ENSG00000159640 ENST00000290866;ENST00000428043 T;T 0.37058 1.22;1.22 5.7 5.7 0.88788 . 0.070737 0.64402 D 0.000016 T 0.51329 0.1668 M 0.64404 1.975 0.80722 D 1 B;B 0.33212 0.242;0.402 B;P 0.52481 0.077;0.7 T 0.52881 -0.8516 10 0.49607 T 0.09 -19.1735 8.9337 0.35686 0.1493:0.7772:0.0:0.0736 . 536;536 P12821-2;P12821 .;ACE_HUMAN V 536 ENSP00000290866:L536V;ENSP00000397593:L536V ENSP00000290866:L536V L + 1 2 ACE 58914961 0.937000 0.31787 0.990000 0.47175 0.945000 0.59286 1.512000 0.35812 2.695000 0.91970 0.462000 0.41574 CTG TCGA-HZ-8005-01A-11D-2201-08 ACE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000337675.2 1 0 1 151 592 0 128 1 9.999882e-01 10 55 0 128 2 0 0 0 0 0 2 1 1.000000 149 586 0 127 2 0 0 0 0 128 2 -3.173795 1 1 0 0 1 1 2 3 2.072958 0 0.360000 1.820000 0.361150 0.990000 0.970000 1.000000 1.000000 0.998412 0.990000 1 0.990000 1.000000 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C T rs11575997 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS targeted Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr17:7576852C>T ENST00000269305.4 - 9 1183 c.e9+1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 p.?(24)|p.0?(8)|p.I332fs*49(1) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) Acetylsalicylic acid(DB00945) AGACTTAGTACCTGAAGGGTG 0.458000 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 33 Unknown(24)|Whole gene deletion(8)|Insertion - Frameshift(1) GRCh37 CD002536 TP53 D rs11575997 SO:0001630 splice_region_variant Familial Cancer Database Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma; ENST00000269305.4 1 1 hg19 CCDS11118.1 . . . . . . . . . . C 13.85 2.361474 0.41801 . . ENSG00000141510 ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000419024 . . . 4.41 4.41 0.53225 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 12.6932 0.56988 0.0:1.0:0.0:0.0 . . . . . -1 . . . - . . TP53 7517577 1.000000 0.71417 1.000000 0.80357 0.648000 0.38561 2.315000 0.43752 2.462000 0.83206 0.561000 0.74099 . TCGA-HZ-8005-01A-11D-2201-08 TP53-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000367397.1 1 0 1 57 298 0 55 1 2.537366e-01 6 0 0 55 2 1 1 298 916 0 945 2 1 1.000000 54 293 0 55 2 0 0 0 0 55 2 -20.000000 1 1 0 0 1 0 1 1 1.730727 1 0.360000 1.820000 0.219512 0.720000 0.560000 0.900000 0.720000 0.732052 0.720000 0 0.630000 0.820000 ZNF491 126069 broad.mit.edu 37 19 11917498 11917498 + Nonsense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:11917498G>T ENST00000323169.5 + 3 1061 c.730G>T c.(730-732)Gaa>Taa p.E244* ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 26 AAAACCCTATGAATGTAAACT 0.418000 0 SO:0001587 stop_gained ENST00000323169.5 0 1 hg19 CCDS12267.1 . . . . . . . . . . g 20.5 4.005864 0.74932 . . ENSG00000177599 ENST00000323169;ENST00000455048 . . . 0.981 -0.104 0.13605 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . 0.22706 T 0.39 . 2.8933 0.05682 0.191:0.0:0.5452:0.2638 . . . . X 244;216 . ENSP00000313443:E244X E + 1 0 ZNF491 11778498 0.000000 0.05858 0.031000 0.17742 0.285000 0.27093 -3.284000 0.00527 0.010000 0.14839 0.505000 0.49811 GAA TCGA-HZ-8005-01A-11D-2201-08 ZNF491-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000344518.1 0 0 0 11 321 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 0.998202 11 314 0 45 2 0 0 0 0 45 2 -11.397770 1 1 0 0 1 0 0 0 2.053054 0 0.360000 1.820000 0.355359 0.180000 0.090000 0.310000 0.180000 0.197084 0.180000 0 0.130000 0.250000 PTPRS 5802 broad.mit.edu 37 19 5219432 5219432 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:5219432G>A ENST00000587303.1 - 22 3911 c.3812C>T c.(3811-3813)cCg>cTg p.P1271L PTPRS_ENST00000348075.2_Missense_Mutation_p.P1249L|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1272L|PTPRS_ENST00000592099.1_Missense_Mutation_p.P840L|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1271L|PTPRS_ENST00000353284.2_Missense_Mutation_p.P840L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1249L|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1267L Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 61 Alendronate(DB00630)|Etidronic acid(DB01077) CTGGGGGTCCGGGTTATCCAG 0.592000 0 SO:0001583 missense ENST00000587303.1 1 1 hg19 CCDS45930.1 . . . . . . . . . . G 4.622 0.115594 0.08831 . . ENSG00000105426 ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284 T;T;T;T;T 0.54675 0.67;0.66;0.67;0.56;0.64 3.76 3.76 0.43208 . 0.180124 0.36628 U 0.002495 T 0.25044 0.0608 N 0.02960 -0.455 0.46499 D 0.999074 B;B;B;B;B;B 0.17268 0.003;0.003;0.021;0.004;0.012;0.021 B;B;B;B;B;B 0.20767 0.003;0.003;0.031;0.003;0.008;0.006 T 0.10245 -1.0638 10 0.11485 T 0.65 . 11.0988 0.48161 0.0:0.0:0.815:0.185 . 853;840;844;1249;1271;866 F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6 .;.;.;.;PTPRS_HUMAN;. L 866;1272;1271;1271;1262;1267;1249;853;844;840 ENSP00000361489:P1272L;ENSP00000349932:P1271L;ENSP00000262963:P1267L;ENSP00000269907:P1249L;ENSP00000327313:P840L ENSP00000262963:P1267L P - 2 0 PTPRS 5170432 1.000000 0.71417 0.942000 0.38095 0.861000 0.49209 4.323000 0.59221 1.956000 0.56807 0.557000 0.71058 CCG TCGA-HZ-8005-01A-11D-2201-08 PTPRS-002 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000450762.2 1 0 1 83 394 0 68 1 9.953672e-01 2 39 0 68 2 0 0 0 0 0 2 1 1.000000 82 384 1 67 22 0 0 0 0 68 2 -2.559837 1 1 0 0 1 0 0 0 2.053054 0 0.360000 1.820000 0.355359 0.950000 0.770000 1.000000 1.000000 0.940568 0.950000 1 0.860000 1.000000 RANBP3 8498 broad.mit.edu 37 19 5978075 5978075 + Missense_Mutation SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:5978075C>G ENST00000340578.6 - 1 76 c.19G>C c.(19-21)Gaa>Caa p.E7Q RANBP3_ENST00000034275.8_Missense_Mutation_p.E7Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E7Q|RANBP3_ENST00000541471.1_Missense_Mutation_p.E7Q|RANBP3_ENST00000591124.1_5'UTR|CTC-232P5.1_ENST00000587836.1_RNA|RANBP3_ENST00000591092.1_Missense_Mutation_p.E7Q NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 18 CCCCTACCTTCGTTCGCCAGG 0.701000 0 SO:0001583 missense ENST00000340578.6 1 1 hg19 CCDS42478.1 . . . . . . . . . . C 18.48 3.634073 0.67130 . . ENSG00000031823 ENST00000340578;ENST00000439268;ENST00000034275;ENST00000541471 T;T;T;T 0.36878 1.23;1.24;2.08;1.53 5.02 5.02 0.67125 . 0.634518 0.15243 U 0.272773 T 0.41465 0.1160 N 0.24115 0.695 0.18873 N 0.999988 D;D;D;D;D;D 0.71674 0.998;0.997;0.997;0.998;0.998;0.997 D;D;D;D;D;D 0.79108 0.992;0.983;0.983;0.992;0.992;0.983 T 0.18713 -1.0328 10 0.07030 T 0.85 . 13.8316 0.63384 0.0:1.0:0.0:0.0 . 7;7;7;7;7;7 F5H4C2;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4 .;.;.;.;.;RANB3_HUMAN Q 7 ENSP00000341483:E7Q;ENSP00000404837:E7Q;ENSP00000034275:E7Q;ENSP00000445071:E7Q ENSP00000034275:E7Q E - 1 0 RANBP3 5929075 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 3.697000 0.54764 2.318000 0.78349 0.655000 0.94253 GAA TCGA-HZ-8005-01A-11D-2201-08 RANBP3-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000452304.1 1 0 0 17 223 0 61 1 9.758851e-01 14 69 0 61 2 0 0 0 0 0 2 1 0.999951 17 209 0 60 2 0 0 0 0 61 2 -19.975130 1 1 0 0 1 0 0 0 2.053054 0 0.360000 1.820000 0.355359 0.390000 0.230000 0.590000 0.390000 0.407159 0.390000 0 0.310000 0.500000 AZU1 566 broad.mit.edu 37 19 829611 829611 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:829611C>T ENST00000233997.2 + 3 286 c.265C>T c.(265-267)Cgg>Tgg p.R89W NM_001700.3 NP_001691.1 P20160 CAP7_HUMAN azurocidin 1 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) CCTGAGGCGGCGGGAGAGGCA 0.632000 0 SO:0001583 missense ENST00000233997.2 1 1 hg19 CCDS12044.1 . . . . . . . . . . C 14.89 2.671754 0.47781 0.0 1.16E-4 ENSG00000172232 ENST00000334630;ENST00000233997 D 0.89270 -2.49 1.14 1.14 0.20703 Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3); . . . . D 0.90700 0.7082 L 0.50333 1.59 0.26930 N 0.966493 D 0.89917 1.0 D 0.69142 0.962 T 0.81048 -0.1109 9 0.62326 D 0.03 . 8.1582 0.31183 0.0:1.0:0.0:0.0 . 89 P20160 CAP7_HUMAN W 103;89 ENSP00000233997:R89W ENSP00000233997:R89W R + 1 2 AZU1 780611 0.000000 0.05858 0.212000 0.23672 0.359000 0.29487 0.008000 0.13197 0.941000 0.37499 0.491000 0.48974 CGG TCGA-HZ-8005-01A-11D-2201-08 AZU1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000457472.2 0 0 0 15 596 0 155 0 7.226701e-04 0 2 0 155 2 0 0 0 0 0 2 1 0.999857 15 587 0 153 2 0 0 0 0 155 2 -2.784101 1 1 121408 3 41 1 0 0 0 2.053054 0 0.360000 1.820000 0.355359 0.130000 0.070000 0.220000 0.140000 0.143537 0.130000 0 0.100000 0.180000 ACTL9 284382 broad.mit.edu 37 19 8808115 8808115 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr19:8808115C>T ENST00000324436.3 - 1 1057 c.937G>A c.(937-939)Gtc>Atc p.V313I NM_178525.3 NP_848620.3 Q8TC94 ACTL9_HUMAN actin-like 9 36 GAGAGGCCGACGGGTGACAGC 0.647000 0 SO:0001583 missense ENST00000324436.3 1 1 hg19 CCDS12207.1 . . . . . . . . . . c 1.890 -0.455680 0.04540 . . ENSG00000181786 ENST00000324436 D 0.94650 -3.48 4.63 -2.91 0.05631 . 1.123610 0.06989 N 0.821237 D 0.83575 0.5284 N 0.03608 -0.345 0.09310 N 1 B 0.13594 0.008 B 0.10450 0.005 T 0.73263 -0.4038 10 0.87932 D 0 . 4.8829 0.13688 0.3641:0.4335:0.0:0.2024 . 313 Q8TC94 ACTL9_HUMAN I 313 ENSP00000316674:V313I ENSP00000316674:V313I V - 1 0 ACTL9 8669115 0.000000 0.05858 0.007000 0.13788 0.046000 0.14306 -0.972000 0.03802 -0.140000 0.11394 -0.851000 0.03033 GTC TCGA-HZ-8005-01A-11D-2201-08 ACTL9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000459953.1 1 0 1 82 464 0 69 0 0 0 0 69 2 0 0 0 0 0 2 1 1.000000 79 457 0 69 2 0 0 0 0 69 2 -20.000000 1 1 0 0 1 0 0 0 2.053054 0 0.360000 1.820000 0.355359 0.820000 0.660000 0.990000 0.820000 0.831604 0.820000 0 0.740000 0.910000 MIB2 142678 broad.mit.edu 37 1 1565062 1565062 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:1565062C>T ENST00000357210.4 + 19 2997 c.2781C>T c.(2779-2781)gtC>gtT p.V927V MIB2_ENST00000378712.1_Missense_Mutation_p.R744C|MMP23B_ENST00000356026.5_5'Flank|MIB2_ENST00000520777.1_Silent_p.V980V|MIB2_ENST00000504599.1_Silent_p.V883V|MIB2_ENST00000378708.1_Silent_p.V833V|MIB2_ENST00000378710.3_Silent_p.V891V|MIB2_ENST00000518681.1_Silent_p.V919V|MIB2_ENST00000505820.2_Silent_p.V984V|MIB2_ENST00000360522.4_Silent_p.V892V|MIB2_ENST00000355826.5_Silent_p.V970V|MMP23B_ENST00000378675.3_5'Flank NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) GCCAGGTGGTCGTCAGCAAGA 0.697000 0 SO:0001819 synonymous_variant ENST00000357210.4 1 1 hg19 . . . . . . . . . . c 12.92 2.083742 0.36758 . . ENSG00000197530 ENST00000378712;ENST00000514234 T 0.68624 -0.34 3.31 1.06 0.20224 . . . . . T 0.52885 0.1762 . . . 0.80722 D 1 B 0.33904 0.431 B 0.26969 0.075 T 0.55673 -0.8104 8 0.66056 D 0.02 -3.8927 10.1675 0.42888 0.4171:0.5829:0.0:0.0 . 744 B3KXY1 . C 744;743 ENSP00000367984:R744C ENSP00000367984:R744C R + 1 0 MIB2 1554925 0.438000 0.25602 0.866000 0.34008 0.451000 0.32288 0.089000 0.15002 0.662000 0.31006 0.450000 0.29827 CGT TCGA-HZ-8005-01A-11D-2201-08 MIB2-201 KNOWN basic|appris_candidate protein_coding protein_coding 1 0 0 29 135 0 33 1 9.570284e-01 11 16 0 33 2 0 0 0 0 0 2 1 1.000000 29 133 0 32 2 0 0 0 0 33 2 -20.000000 1 1 0 0 1 0 1 1 1.937435 0 0.360000 1.820000 0.306308 0.900000 0.630000 1.000000 1.000000 0.886058 0.900000 1 0.750000 1.000000 SPTA1 6708 broad.mit.edu 37 1 158618345 158618345 + Missense_Mutation SNP C C T rs148714399 by1000genomes TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:158618345C>T ENST00000368147.4 - 26 3848 c.3668G>A c.(3667-3669)cGa>cAa p.R1223Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 p.R1223Q(1) 307 all_hematologic(112;0.0378) CTCATGCCGTCGCTGAAGAGC 0.507000 1 Substitution - Missense(1) SO:0001583 missense ENST00000368147.4 1 1 hg19 CCDS41423.1 1 4.578754578754579E-4 0 0.0 0 0.0 1 0.0017482517482517483 0 0.0 C 36 5.794612 0.96952 2.56E-4 0.0 ENSG00000163554 ENST00000368148;ENST00000368147 T;T 0.48201 0.82;0.82 5.5 5.5 0.81552 . 0.000000 0.28560 N 0.014914 T 0.68044 0.2958 M 0.84082 2.675 0.58432 D 0.999997 D 0.89917 1.0 D 0.97110 1.0 T 0.70193 -0.4939 10 0.62326 D 0.03 . 18.1469 0.89661 0.0:1.0:0.0:0.0 . 1223 P02549 SPTA1_HUMAN Q 1223 ENSP00000357130:R1223Q;ENSP00000357129:R1223Q ENSP00000357129:R1223Q R - 2 0 SPTA1 156884969 1.000000 0.71417 0.998000 0.56505 0.993000 0.82548 7.130000 0.77235 2.861000 0.98227 0.655000 0.94253 CGA TCGA-HZ-8005-01A-11D-2201-08 SPTA1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000051851.3 1 0 1 65 523 0 105 0 0 0 0 105 2 0 0 0 0 0 2 1 1.000000 64 515 0 105 2 0 0 0 0 105 2 -19.994300 1 1 120874 8 42 1 0 1 1 1.901516 0 0.360000 1.820000 0.304952 0.560000 0.440000 0.700000 0.560000 0.570035 0.560000 0 0.490000 0.630000 ASTN1 460 broad.mit.edu 37 1 177001821 177001821 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:177001821G>A ENST00000367654.3 - 3 847 c.636C>T c.(634-636)caC>caT p.H212H ASTN1_ENST00000367657.3_Silent_p.H212H|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Silent_p.H212H|ASTN1_ENST00000424564.2_Silent_p.H212H NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 153 TCTCCCGTCCGTGCCCGCCGA 0.627000 0 SO:0001819 synonymous_variant ENST00000367654.3 1 1 hg19 TCGA-HZ-8005-01A-11D-2201-08 ASTN1-201 KNOWN basic protein_coding protein_coding 1 0 0 45 402 0 67 0 0 0 0 67 2 0 0 0 0 0 2 1 1.000000 44 388 0 64 2 0 0 0 0 67 2 -20.000000 1 1 0 0 1 0 1 1 1.892748 1 0.360000 1.820000 0.298092 0.500000 0.370000 0.650000 0.510000 0.516239 0.500000 0 0.430000 0.590000 TOR1AIP1 26092 broad.mit.edu 37 1 179887348 179887348 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:179887348G>A ENST00000606911.2 + 10 1917 c.1726G>A c.(1726-1728)Gcc>Acc p.A576T TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.A577T|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.A592T|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.A455T Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 18 ACCTGAAAATGCCCTGAAAAG 0.428000 0 SO:0001583 missense ENST00000606911.2 1 1 hg19 CCDS1335.1 . . . . . . . . . . G 7.262 0.605348 0.14002 . . ENSG00000143337 ENST00000325993;ENST00000271583;ENST00000435319 T;T 0.27720 1.65;1.65 5.85 1.27 0.21489 . 0.561061 0.19308 N 0.117477 T 0.18882 0.0453 L 0.35723 1.085 0.09310 N 1 B 0.25904 0.137 B 0.23018 0.043 T 0.15867 -1.0422 9 . . . -0.0438 5.7073 0.17915 0.2627:0.0:0.5051:0.2322 . 576 Q5JTV8 TOIP1_HUMAN T 371;592;576 ENSP00000271583:A592T;ENSP00000393292:A576T . A + 1 0 TOR1AIP1 178153971 0.983000 0.35010 0.011000 0.14972 0.435000 0.31806 1.398000 0.34554 0.355000 0.24131 -0.140000 0.14226 GCC TCGA-HZ-8005-01A-11D-2201-08 TOR1AIP1-004 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000100313.4 1 0 1 65 271 0 43 1 9.999985e-01 21 62 0 43 2 0 0 0 0 0 2 1 1.000000 63 269 0 41 2 0 0 0 0 43 2 -20.000000 1 1 0 0 1 0 1 1 1.892748 1 0.360000 1.820000 0.298092 0.970000 0.770000 1.000000 1.000000 0.947159 0.970000 1 0.860000 1.000000 LGR6 59352 broad.mit.edu 37 1 202273709 202273709 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:202273709C>T ENST00000367278.3 + 11 1110 c.1021C>T c.(1021-1023)Cgg>Tgg p.R341W LGR6_ENST00000255432.7_Missense_Mutation_p.R289W|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Missense_Mutation_p.R202W NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 36 CGCAGGCATCCGGCTGCTCCC 0.642000 0 SO:0001583 missense ENST00000367278.3 1 1 hg19 CCDS30971.1 . . . . . . . . . . C 24.0 4.486753 0.84854 . . ENSG00000133067 ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764 T;T;T;T 0.59502 0.86;0.86;0.26;0.86 5.22 4.29 0.51040 . 0.382828 0.27052 N 0.021162 T 0.68723 0.3032 M 0.65677 2.01 0.32304 N 0.564591 D;D;D 0.76494 0.999;0.989;0.996 P;P;P 0.58970 0.799;0.764;0.849 T 0.77247 -0.2658 10 0.72032 D 0.01 . 11.9806 0.53117 0.1802:0.8198:0.0:0.0 . 202;289;341 Q9HBX8-1;Q9HBX8-2;Q9HBX8 .;.;LGR6_HUMAN W 341;289;195;195;202 ENSP00000356247:R341W;ENSP00000255432:R289W;ENSP00000402284:R195W;ENSP00000387869:R202W ENSP00000255432:R289W R + 1 2 LGR6 200540332 1.000000 0.71417 1.000000 0.80357 0.997000 0.91878 2.719000 0.47244 1.129000 0.42072 0.655000 0.94253 CGG TCGA-HZ-8005-01A-11D-2201-08 LGR6-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000099143.1 1 0 0 25 323 0 59 1 3.073188e-01 5 10 0 59 2 0 0 0 0 0 2 1 1.000000 25 313 0 58 2 0 0 0 0 59 2 -3.017769 1 1 121412 1 32 1 0 1 1 1.892748 1 0.360000 1.820000 0.298092 0.360000 0.240000 0.510000 0.360000 0.373760 0.360000 0 0.290000 0.440000 KIF17 57576 broad.mit.edu 37 1 21031222 21031222 + Missense_Mutation SNP G G A rs150395335 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:21031222G>A ENST00000247986.2 - 5 1151 c.841C>T c.(841-843)Cgc>Tgc p.R281C KIF17_ENST00000400463.3_Missense_Mutation_p.R281C|KIF17_ENST00000375044.1_Missense_Mutation_p.R181C Q9P2E2 KIF17_HUMAN kinesin family member 17 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) TGCTTACAGCGCCCGTCCACC 0.662000 0 SO:0001583 missense ENST00000247986.2 1 1 hg19 CCDS213.1 . . . . . . . . . . G 18.97 3.735323 0.69189 . . ENSG00000117245 ENST00000375044;ENST00000400463;ENST00000247986 T;T;T 0.73469 -0.75;-0.75;-0.75 5.11 4.13 0.48395 Kinesin, motor domain (3); 0.000000 0.33161 U 0.005212 D 0.83308 0.5226 M 0.71871 2.18 0.53005 D 0.999962 D;D 0.89917 1.0;1.0 D;D 0.81914 0.988;0.995 D 0.84525 0.0630 10 0.87932 D 0 . 11.0585 0.47933 0.0:0.0:0.67:0.33 . 281;281 Q9P2E2-3;Q9P2E2 .;KIF17_HUMAN C 181;281;281 ENSP00000364184:R181C;ENSP00000383311:R281C;ENSP00000247986:R281C ENSP00000247986:R281C R - 1 0 KIF17 20903809 1.000000 0.71417 1.000000 0.80357 0.891000 0.51852 3.315000 0.51951 2.554000 0.86153 0.462000 0.41574 CGC TCGA-HZ-8005-01A-11D-2201-08 KIF17-009 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000276995.1 1 0 1 66 587 0 109 0 1.060324e-02 0 2 0 109 2 0 0 0 0 0 2 1 1.000000 64 573 0 107 2 0 0 0 0 109 2 -3.075755 1 1 121398 3 34 1 0 1 1 1.945867 0 0.360000 1.820000 0.309005 0.510000 0.400000 0.640000 0.520000 0.524540 0.510000 0 0.450000 0.580000 PTCH2 8643 broad.mit.edu 37 1 45294923 45294923 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:45294923C>T ENST00000372192.3 - 10 1407 c.1277G>A c.(1276-1278)gGc>gAc p.G426D PTCH2_ENST00000447098.2_Missense_Mutation_p.G426D NM_003738.4 NP_003729.3 Q9Y6C5 PTC2_HUMAN patched 2 50 Acute lymphoblastic leukemia(166;0.155) CCCGGCAAGGCCCACGGAACC 0.677000 Basal Cell Nevus syndrome 0 SO:0001583 missense Familial Cancer Database Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS ENST00000372192.3 1 1 hg19 CCDS516.1 . . . . . . . . . . C 22.9 4.353281 0.82132 . . ENSG00000117425 ENST00000447098;ENST00000372192 D;D 0.92446 -3.04;-3.04 5.13 4.16 0.48862 Sterol-sensing domain (1); 0.140689 0.45126 D 0.000382 D 0.97164 0.9073 H 0.96015 3.755 0.80722 D 1 D;D 0.89917 1.0;1.0 D;D 0.97110 0.997;1.0 D 0.97955 1.0334 10 0.87932 D 0 -18.3065 14.0316 0.64619 0.1518:0.8482:0.0:0.0 . 426;426 Q9Y6C5-2;Q9Y6C5 .;PTC2_HUMAN D 426 ENSP00000389703:G426D;ENSP00000361266:G426D ENSP00000361266:G426D G - 2 0 PTCH2 45067510 1.000000 0.71417 1.000000 0.80357 0.869000 0.49853 5.634000 0.67833 2.397000 0.81536 0.561000 0.74099 GGC TCGA-HZ-8005-01A-11D-2201-08 PTCH2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000023428.4 1 0 1 64 227 0 43 0 0 0 0 43 2 0 0 0 0 0 2 1 1.000000 62 224 0 43 2 0 0 0 0 43 2 -20.000000 1 1 0 0 1 0 1 1 1.917152 0 0.360000 1.820000 0.303591 0.990000 0.880000 1.000000 1.000000 0.990749 0.990000 1 0.990000 1.000000 ELTD1 64123 broad.mit.edu 37 1 79387314 79387314 + Missense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:79387314G>T ENST00000370742.3 - 9 1304 c.1241C>A c.(1240-1242)tCc>tAc p.S414Y NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 69 AGGACCAGAGGACATCAAAAT 0.383000 0 SO:0001583 missense ENST00000370742.3 1 1 hg19 CCDS41352.1 . . . . . . . . . . G 18.42 3.620175 0.66787 . . ENSG00000162618 ENST00000370742 T 0.38887 1.11 5.32 5.32 0.75619 GPS domain (2); 0.000000 0.85682 D 0.000000 T 0.66117 0.2757 M 0.89030 3 0.80722 D 1 D 0.65815 0.995 D 0.69307 0.963 T 0.71265 -0.4644 9 . . . . 19.3656 0.94460 0.0:0.0:1.0:0.0 . 414 Q9HBW9 ELTD1_HUMAN Y 414 ENSP00000359778:S414Y . S - 2 0 ELTD1 79159902 1.000000 0.71417 0.989000 0.46669 0.372000 0.29890 9.568000 0.98166 2.637000 0.89404 0.585000 0.79938 TCC TCGA-HZ-8005-01A-11D-2201-08 ELTD1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000026859.1 1 0 1 63 536 0 97 0 5.810603e-01 0 18 0 97 2 0 0 0 0 0 2 1 1.000000 62 529 0 96 2 0 0 0 0 97 2 -19.692770 1 1 0 0 1 0 1 1 1.917152 0 0.360000 1.820000 0.303591 0.530000 0.410000 0.660000 0.530000 0.541609 0.530000 0 0.470000 0.600000 TNFRSF9 3604 broad.mit.edu 37 1 8000140 8000140 + Splice_Site SNP T T G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr1:8000140T>G ENST00000377507.3 - 2 83 c.e2-2 NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, member 9 19 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) AATGTCACTCTGCAAAAGATA 0.348000 0 SO:0001630 splice_region_variant ENST00000377507.3 0 1 hg19 CCDS92.1 TCGA-HZ-8005-01A-11D-2201-08 TNFRSF9-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000003622.1 0 0 1 7 48 0 18 0 0 0 0 18 2 0 0 0 0 0 2 1 0.981849 7 47 0 18 2 0 0 0 0 18 2 -14.403200 1 1 0 0 1 0 1 1 1.937435 0 0.360000 1.820000 0.306308 0.660000 0.300000 1.000000 1.000000 0.678007 0.660000 0 0.460000 0.900000 DYRK1A 1859 broad.mit.edu 37 21 38868512 38868512 + Missense_Mutation SNP G G T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr21:38868512G>T ENST00000398960.2 + 8 1266 c.1191G>T c.(1189-1191)aaG>aaT p.K397N DYRK1A_ENST00000339659.4_Missense_Mutation_p.K388N|DYRK1A_ENST00000398956.2_Missense_Mutation_p.K397N|DYRK1A_ENST00000455387.2_Missense_Mutation_p.K169N|DYRK1A_ENST00000338785.3_Missense_Mutation_p.K397N|DYRK1A_ENST00000451934.1_Missense_Mutation_p.K397N|DYRK1A_ENST00000321219.8_Missense_Mutation_p.K397N NM_001396.3|NM_130438.2 NP_001387.2|NP_569122.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 42 TCTTTGAGAAGTTGCCAGATG 0.353000 Melanoma(114;464 1602 31203 43785 45765) 0 SO:0001583 missense ENST00000398960.2 1 1 hg19 CCDS42925.1 . . . . . . . . . . G 21.6 4.170311 0.78452 . . ENSG00000157540 ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387 T;T;T;T;T;T;T 0.20332 2.08;2.08;2.08;2.08;2.08;2.08;2.08 4.97 4.97 0.65823 Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1); 0.000000 0.85682 D 0.000000 T 0.27629 0.0679 N 0.16037 0.36 0.80722 D 1 B;P;D;D;P 0.54772 0.447;0.704;0.968;0.96;0.704 B;B;P;P;B 0.57720 0.235;0.235;0.826;0.734;0.235 T 0.17167 -1.0378 10 0.72032 D 0.01 . 18.614 0.91296 0.0:0.0:1.0:0.0 . 397;397;397;388;397 Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5 .;.;DYR1A_HUMAN;.;. N 397;388;397;397;397;397;169 ENSP00000342690:K397N;ENSP00000340373:K388N;ENSP00000319032:K397N;ENSP00000416089:K397N;ENSP00000381932:K397N;ENSP00000381929:K397N;ENSP00000407854:K169N ENSP00000319032:K397N K + 3 2 DYRK1A 37790382 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 6.700000 0.74619 2.446000 0.82766 0.655000 0.94253 AAG TCGA-HZ-8005-01A-11D-2201-08 DYRK1A-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000194804.1 1 0 1 31 235 0 50 1 7.844275e-01 4 20 0 50 2 0 0 0 0 0 2 1 1.000000 31 232 0 50 2 0 0 0 0 50 2 -20.000000 1 1 0 0 1 0 1 1 1.869517 1 0.360000 1.820000 0.296703 0.580000 0.410000 0.790000 0.580000 0.598281 0.580000 0 0.490000 0.690000 SREBF2 6721 broad.mit.edu 37 22 42300961 42300961 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42300961C>T ENST00000361204.4 + 18 3354 c.3188C>T c.(3187-3189)aCg>aTg p.T1063M SREBF2_ENST00000491541.1_3'UTR NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 38 CGGCGCACCACGCAGAGCACC 0.697000 0 SO:0001583 missense ENST00000361204.4 0 1 hg19 CCDS14023.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 15.37|15.37 2.813359|2.813359 0.50527|0.50527 .|. .|. ENSG00000198911|ENSG00000198911 ENST00000435061|ENST00000361204;ENST00000457567;ENST00000543221 .|T .|0.19806 .|2.12 5.48|5.48 4.46|4.46 0.54185|0.54185 .|. .|0.538200 .|0.22119 .|N .|0.064371 T|T 0.14657|0.14657 0.0354|0.0354 L|L 0.38175|0.38175 1.15|1.15 0.09310|0.09310 N|N 0.999998|0.999998 .|P .|0.40332 .|0.713 .|B .|0.29353 .|0.101 T|T 0.19976|0.19976 -1.0289|-1.0289 5|10 .|0.44086 .|T .|0.13 -3.268|-3.268 13.6689|13.6689 0.62412|0.62412 0.0:0.9258:0.0:0.0742|0.0:0.9258:0.0:0.0742 .|. .|1063 .|Q12772 .|SRBP2_HUMAN C|M 252|1063;1063;137 .|ENSP00000354476:T1063M .|ENSP00000354476:T1063M R|T +|+ 1|2 0|0 SREBF2|SREBF2 40630907|40630907 0.006000|0.006000 0.16342|0.16342 0.006000|0.006000 0.13384|0.13384 0.089000|0.089000 0.18198|0.18198 2.261000|2.261000 0.43276|0.43276 2.572000|2.572000 0.86782|0.86782 0.491000|0.491000 0.48974|0.48974 CGC|ACG TCGA-HZ-8005-01A-11D-2201-08 SREBF2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000321956.1 1 0 0 7 81 0 13 1 9.242609e-01 14 42 0 13 2 0 0 0 0 0 2 1 0.980505 6 80 0 13 2 0 0 0 0 13 2 -12.202200 1 1 120706 2 28 1 0 0 0 2.030572 0 0.360000 1.820000 0.348269 0.450000 0.200000 0.800000 0.420000 0.474487 0.450000 0 0.310000 0.630000 NFAM1 150372 broad.mit.edu 37 22 42781196 42781196 + Missense_Mutation SNP C C T rs145224229 TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr22:42781196C>T ENST00000329021.5 - 6 821 c.784G>A c.(784-786)Gaa>Aaa p.E262K NM_145912.5 NP_666017.1 Q8NET5 NFAM1_HUMAN NFAT activating protein with ITAM motif 1 4 AGGTTAAGTTCGCCATCATCT 0.502000 0 SO:0001583 missense ENST00000329021.5 1 1 hg19 CCDS14034.1 . . . . . . . . . . C 17.08 3.297461 0.60086 0.0 1.16E-4 ENSG00000235568 ENST00000329021 T 0.40476 1.03 4.22 2.1 0.27182 . 0.200535 0.22657 U 0.057244 T 0.33323 0.0859 L 0.56769 1.78 0.09310 N 1 B 0.31989 0.35 B 0.23419 0.046 T 0.29058 -1.0024 10 0.87932 D 0 -8.6668 7.32 0.26521 0.0:0.785:0.0:0.215 . 262 Q8NET5 NFAM1_HUMAN K 262 ENSP00000333680:E262K ENSP00000333680:E262K E - 1 0 NFAM1 41111140 0.194000 0.23325 0.004000 0.12327 0.002000 0.02628 1.355000 0.34068 0.504000 0.28082 -0.254000 0.11334 GAA TCGA-HZ-8005-01A-11D-2201-08 NFAM1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320541.1 1 0 0 75 1563 0 184 0 3.737260e-01 0 28 0 184 2 0 0 0 0 0 2 1 1.000000 75 1545 0 183 2 0 0 0 0 184 2 -3.142395 1 1 121412 2 38 1 2 2 4 2.724429 1 0.360000 1.820000 0.517927 0.330000 0.250000 1.000000 0.340000 0.389474 0.330000 0 0.290000 0.400000 APOB 338 broad.mit.edu 37 2 21238344 21238344 + Nonsense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:21238344C>A ENST00000233242.1 - 22 3533 c.3406G>T c.(3406-3408)Gag>Tag p.E1136* NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGAGGATCTCACTTCTGGCT 0.473000 0 SO:0001587 stop_gained ENST00000233242.1 0 1 hg19 CCDS1703.1 . . . . . . . . . . C 43 9.881007 0.99286 . . ENSG00000084674 ENST00000233242;ENST00000535079 . . . 5.49 5.49 0.81192 . 0.000000 0.64402 D 0.000010 . . . . . . 0.80722 D 1 . . . . . . . . . . 0.56958 D 0.05 . 17.9432 0.89031 0.0:1.0:0.0:0.0 . . . . X 1136 . ENSP00000233242:E1136X E - 1 0 APOB 21091849 1.000000 0.71417 0.999000 0.59377 0.846000 0.48090 4.931000 0.63469 2.767000 0.95098 0.655000 0.94253 GAG TCGA-HZ-8005-01A-11D-2201-08 APOB-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000207571.1 0 0 0 35 484 1 79 0 0 0 1 79 2 0 0 0 0 0 2 1 0.978212 35 478 1 78 21 0 0 0 1 79 2 -7.657893 1 1 0 0 1 0 0 0 2.037542 0 0.360000 1.820000 0.350649 0.360000 0.260000 0.490000 0.370000 0.377002 0.360000 0 0.310000 0.440000 ERBB4 2066 broad.mit.edu 37 2 212578361 212578361 + Missense_Mutation SNP A A T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:212578361A>T ENST00000342788.4 - 8 1206 c.896T>A c.(895-897)gTa>gAa p.V299E ERBB4_ENST00000402597.1_Missense_Mutation_p.V299E|ERBB4_ENST00000436443.1_Missense_Mutation_p.V299E NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 179 Renal(323;0.06)|Lung NSC(271;0.197) Afatinib(DB08916) ACTGGAATCTACCACAAAGTT 0.328000 TSP Lung(8;0.080) 0 SO:0001583 missense ENST00000342788.4 1 1 hg19 CCDS2394.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. A|A 26.9|26.9 4.779881|4.779881 0.90195|0.90195 .|. .|. ENSG00000178568|ENSG00000178568 ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943 T;T;T|. 0.30448|. 1.53;1.53;1.53|. 5.61|5.61 5.61|5.61 0.85477|0.85477 Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|. 0.000000|. 0.85682|. D|. 0.000000|. T|. 0.76328|. 0.3972|. M|M 0.78916|0.78916 2.43|2.43 0.80722|0.80722 D|D 1|1 D;D;D;D;D|. 0.89917|. 1.0;0.983;1.0;1.0;1.0|. D;D;D;D;D|. 0.97110|. 0.999;0.967;0.999;0.999;1.0|. T|. 0.77389|. -0.2606|. 10|. 0.87932|. D|. 0|. .|. 15.7982|15.7982 0.78428|0.78428 1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0 .|. 299;299;158;299;299|. Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|. .;.;.;.;ERBB4_HUMAN|. E|K 299|299 ENSP00000342235:V299E;ENSP00000403204:V299E;ENSP00000385565:V299E|. ENSP00000342235:V299E|. V|X -|- 2|1 0|0 ERBB4|ERBB4 212286606|212286606 1.000000|1.000000 0.71417|0.71417 0.979000|0.979000 0.43373|0.43373 0.987000|0.987000 0.75469|0.75469 9.339000|9.339000 0.96797|0.96797 2.132000|2.132000 0.65825|0.65825 0.533000|0.533000 0.62120|0.62120 GTA|TAG TCGA-HZ-8005-01A-11D-2201-08 ERBB4-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000256597.1 1 0 1 39 213 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 1.000000 39 207 0 35 2 0 0 0 0 35 2 -20.000000 1 1 0 0 1 0 0 0 2.037542 0 0.360000 1.820000 0.350649 0.840000 0.620000 1.000000 1.000000 0.847350 0.840000 0 0.720000 0.970000 CXCR1 3577 broad.mit.edu 37 2 219029412 219029412 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr2:219029412G>A ENST00000295683.2 - 2 643 c.523C>T c.(523-525)Cgc>Tgc p.R175C NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 p.R175C(1) 13 Ketoprofen(DB01009) TAAGCCTGGCGGAAAAGGAAG 0.522000 1 Substitution - Missense(1) SO:0001583 missense ENST00000295683.2 1 1 hg19 CCDS2409.1 . . . . . . . . . . G 13.01 2.109016 0.37242 . . ENSG00000163464 ENST00000295683;ENST00000421691 T 0.38401 1.14 4.94 4.94 0.65067 GPCR, rhodopsin-like superfamily (1); 0.179362 0.45361 D 0.000370 T 0.70945 0.3282 H 0.96861 3.895 0.53688 D 0.999976 D 0.89917 1.0 D 0.75020 0.985 T 0.80587 -0.1316 10 0.72032 D 0.01 . 13.0936 0.59178 0.0:0.1617:0.8382:0.0 . 175 P25024 CXCR1_HUMAN C 175;119 ENSP00000295683:R175C ENSP00000295683:R175C R - 1 0 CXCR1 218737657 0.998000 0.40836 0.144000 0.22314 0.162000 0.22319 2.998000 0.49465 2.432000 0.82394 0.655000 0.94253 CGC TCGA-HZ-8005-01A-11D-2201-08 CXCR1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256773.2 1 0 0 25 291 0 41 0 0 0 0 41 2 0 0 0 0 0 2 1 1.000000 25 286 0 39 2 0 0 0 0 41 2 -2.966612 1 1 121412 34 44 1 0 0 0 2.037542 0 0.360000 1.820000 0.350649 0.430000 0.280000 0.610000 0.430000 0.445071 0.430000 0 0.350000 0.520000 MCM2 4171 broad.mit.edu 37 3 127325137 127325137 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 C T C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:127325137C>T ENST00000265056.7 + 5 1094 c.850C>T c.(850-852)Cgc>Tgc p.R284C NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 6 CATCCATGTCCGCATCTCCCA 0.632000 0 SO:0001583 missense ENST00000265056.7 1 1 hg19 CCDS3043.1 . . . . . . . . . . C 18.12 3.552420 0.65311 . . ENSG00000073111 ENST00000265056;ENST00000539922;ENST00000543142 T 0.15017 2.46 5.1 5.1 0.69264 Nucleic acid-binding, OB-fold-like (1); 0.000000 0.85682 D 0.000000 T 0.55909 0.1950 H 0.94503 3.545 0.80722 D 1 D;D;D 0.89917 1.0;1.0;1.0 D;D;D 0.97110 0.995;1.0;1.0 T 0.70741 -0.4789 10 0.87932 D 0 -27.6015 18.5426 0.91035 0.0:1.0:0.0:0.0 . 265;154;284 F5H1E9;B4DSV5;P49736 .;.;MCM2_HUMAN C 284;188;265 ENSP00000265056:R284C ENSP00000265056:R284C R + 1 0 MCM2 128807827 1.000000 0.71417 0.965000 0.40720 0.262000 0.26303 5.925000 0.70062 2.363000 0.80096 0.591000 0.81541 CGC TCGA-HZ-8005-01A-11D-2201-08 MCM2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000356612.1 1 0 1 315 815 0 157 1 1 60 29 0 157 2 0 0 0 0 0 2 1 1.000000 300 804 0 155 2 0 0 0 0 157 2 -13.038990 1 1 121410 4 36 1 1 2 3 2.382272 1 0.360000 1.820000 0.451773 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 ZIC1 7545 broad.mit.edu 37 3 147128364 147128364 + Silent SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr3:147128364G>A ENST00000282928.4 + 1 1194 c.465G>A c.(463-465)tcG>tcA p.S155S NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 63 GCCACGCGTCGCCTAACGTGG 0.716000 0 SO:0001819 synonymous_variant ENST00000282928.4 1 1 hg19 CCDS3136.1 TCGA-HZ-8005-01A-11D-2201-08 ZIC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000355497.1 1 0 0 56 106 0 27 0 0 0 0 27 2 0 0 0 0 0 2 1 1.000000 55 102 0 26 2 0 0 0 0 27 2 -20.000000 1 1 0 0 1 1 2 3 2.382272 1 0.360000 1.820000 0.451773 0.990000 0.990000 1.000000 1.000000 1.000000 0.990000 1 0.990000 1.000000 NPY5R 4889 broad.mit.edu 37 4 164272416 164272416 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr4:164272416C>A ENST00000515560.1 + 4 2513 c.991C>A c.(991-993)Cca>Aca p.P331T NPY5R_ENST00000506953.1_Missense_Mutation_p.P331T|NPY5R_ENST00000338566.3_Missense_Mutation_p.P331T Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 42 all_hematologic(180;0.166) Prostate(90;0.109) TAAGTTCATACCAGGGGTCCC 0.403000 Melanoma(139;1287 1774 9781 19750 25599) 0 SO:0001583 missense ENST00000515560.1 1 1 hg19 CCDS3804.1 . . . . . . . . . . C 17.17 3.321968 0.60634 . . ENSG00000164129 ENST00000338566;ENST00000515560;ENST00000506953 T;T;T 0.71222 -0.55;-0.55;-0.55 4.49 4.49 0.54785 GPCR, rhodopsin-like superfamily (1); 0.000000 0.40302 N 0.001140 T 0.81522 0.4840 M 0.68952 2.095 0.48696 D 0.999694 D 0.89917 1.0 D 0.81914 0.995 T 0.77571 -0.2538 10 0.18276 T 0.48 . 18.061 0.89377 0.0:1.0:0.0:0.0 . 331 Q15761 NPY5R_HUMAN T 331 ENSP00000339377:P331T;ENSP00000423917:P331T;ENSP00000423474:P331T ENSP00000339377:P331T P + 1 0 NPY5R 164491866 0.995000 0.38212 0.998000 0.56505 0.970000 0.65996 3.986000 0.56937 2.433000 0.82419 0.467000 0.42956 CCA TCGA-HZ-8005-01A-11D-2201-08 NPY5R-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000364633.1 1 0 1 80 245 0 66 0 0 0 0 66 2 0 0 0 0 0 2 1 1.000000 79 238 0 64 2 0 0 0 0 66 2 -20.000000 1 1 0 0 1 0 2 2 2.057327 1 0.360000 1.820000 0.360000 0.990000 0.990000 1.000000 1.000000 0.999965 0.990000 1 0.990000 1.000000 LHFPL2 10184 broad.mit.edu 37 5 77805805 77805805 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr5:77805805G>A ENST00000515007.2 - 2 542 c.232C>T c.(232-234)Cgg>Tgg p.R78W LHFPL2_ENST00000380345.2_Missense_Mutation_p.R78W Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) AGCGTGTCCCGCTGGAAGTGC 0.687000 0 SO:0001583 missense ENST00000515007.2 1 1 hg19 CCDS4042.1 . . . . . . . . . . G 19.77 3.889280 0.72524 . . ENSG00000145685 ENST00000380345;ENST00000515007 T;T 0.72725 -0.68;-0.68 5.52 3.7 0.42460 . 0.175378 0.49305 D 0.000158 T 0.63780 0.2540 L 0.47716 1.5 0.45390 D 0.998379 B 0.11235 0.004 B 0.10450 0.005 T 0.57631 -0.7778 10 0.37606 T 0.19 -26.9083 13.8039 0.63218 0.0:0.0:0.4853:0.5147 . 78 Q6ZUX7 LHPL2_HUMAN W 78 ENSP00000369702:R78W;ENSP00000425906:R78W ENSP00000369702:R78W R - 1 2 LHFPL2 77841561 0.002000 0.14202 0.906000 0.35671 0.907000 0.53573 0.772000 0.26647 0.675000 0.31264 -0.122000 0.15005 CGG TCGA-HZ-8005-01A-11D-2201-08 LHFPL2-001 KNOWN alternative_5_UTR|basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000369098.2 1 0 1 28 129 0 32 1 9.968698e-01 10 35 0 32 2 0 0 0 0 0 2 1 1.000000 26 127 0 32 2 0 0 0 0 32 2 -20.000000 1 1 0 0 1 0 0 0 2.013809 0 0.360000 1.820000 0.341021 0.950000 0.660000 1.000000 1.000000 0.919804 0.950000 1 0.800000 1.000000 RNF182 221687 broad.mit.edu 37 6 13977539 13977539 + Silent SNP C C G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:13977539C>G ENST00000488300.1 + 3 712 c.189C>G c.(187-189)gtC>gtG p.V63V RNF182_ENST00000544682.1_Silent_p.V63V|RNF182_ENST00000537388.1_Silent_p.V63V|RNF182_ENST00000537663.1_Silent_p.V63V NM_152737.3 NP_689950.1 Q8N6D2 RN182_HUMAN ring finger protein 182 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTGTCATTGTCTGTCCTTTCT 0.478000 0 SO:0001819 synonymous_variant ENST00000488300.1 1 1 hg19 CCDS4531.1 TCGA-HZ-8005-01A-11D-2201-08 RNF182-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039911.2 1 0 1 160 808 0 122 0 0 0 1 0 122 2 0 0 0 0 0 2 1 1.000000 160 801 0 121 2 0 0 0 0 122 2 -20.000000 1 1 0 0 1 2 2 4 2.340783 1 0.360000 1.820000 0.435228 0.990000 0.900000 1.000000 1.000000 0.989885 0.990000 1 0.970000 1.000000 DEK 7913 broad.mit.edu 37 6 18264096 18264096 + Missense_Mutation SNP C C G rs147127829 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 C G C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:18264096C>G ENST00000397239.3 - 2 570 c.123G>C c.(121-123)gaG>gaC p.E41D DEK_ENST00000244776.7_Missense_Mutation_p.E41D NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK proto-oncogene 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) cctcctcctcctcgtcgtcct 0.562000 T NUP214 AML Dom yes 6 6p23 7913 DEK oncogene (DNA binding) L 0 SO:0001583 missense ENST00000397239.3 1 0 hg19 CCDS34344.1 1 4.578754578754579E-4 1 0.0020325203252032522 0 0.0 0 0.0 0 0.0 C 6.267 0.417416 0.11870 0.001816 0.0 ENSG00000124795 ENST00000397239;ENST00000244776;ENST00000515742 T;T;T 0.51817 0.76;0.85;0.69 4.57 -3.65 0.04502 . 0.440668 0.20131 N 0.098587 T 0.09598 0.0236 L 0.48642 1.525 0.22880 N 0.998611 B;B 0.02656 0.0;0.0 B;B 0.04013 0.001;0.001 T 0.38585 -0.9654 10 0.12766 T 0.61 -5.206 1.3254 0.02124 0.2162:0.3697:0.1081:0.306 . 41;41 B4DN37;P35659 .;DEK_HUMAN D 41;41;46 ENSP00000380414:E41D;ENSP00000244776:E41D;ENSP00000423553:E46D ENSP00000244776:E41D E - 3 2 DEK 18372075 0.003000 0.15002 0.050000 0.19076 0.529000 0.34654 -2.192000 0.01245 -1.460000 0.01911 -2.294000 0.00264 GAG TCGA-HZ-8005-01A-11D-2201-08 DEK-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000039962.4 1 0 0 20 412 0 56 1 9.991461e-01 7 226 0 56 2 0 0 0 0 0 2 1 0.999996 12 425 0 58 2 0 0 0 0 56 2 -1.187281 0 0 121406 68 45 1 2 2 4 2.340783 1 0.360000 1.820000 0.435228 0.310000 0.180000 1.000000 0.290000 0.460678 0.310000 0 0.240000 1.000000 MAPK13 5603 broad.mit.edu 37 6 36098379 36098379 + Missense_Mutation SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:36098379A>G ENST00000211287.4 + 1 282 c.20A>G c.(19-21)aAg>aGg p.K7R MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373759.1_5'Flank|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 12 ATCCGGAAAAAGGGCTTCTAC 0.697000 0 SO:0001583 missense ENST00000211287.4 1 0 hg19 CCDS4818.1 . . . . . . . . . . A 6.131 0.392389 0.11638 . . ENSG00000156711 ENST00000373761;ENST00000211287;ENST00000373770;ENST00000373766 T;T;T 0.70869 -0.34;-0.52;-0.18 4.3 -1.34 0.09143 Protein kinase-like domain (1); 0.667620 0.13434 N 0.388180 T 0.26268 0.0641 N 0.12182 0.205 0.09310 N 1 B 0.02656 0.0 B 0.01281 0.0 T 0.29366 -1.0014 10 0.26408 T 0.33 -6.0464 10.1854 0.42995 0.3399:0.0:0.6601:0.0 . 7 O15264 MK13_HUMAN R 7 ENSP00000362866:K7R;ENSP00000211287:K7R;ENSP00000362871:K7R ENSP00000211287:K7R K + 2 0 MAPK13 36206357 0.996000 0.38824 0.761000 0.31378 0.527000 0.34593 0.909000 0.28558 -0.146000 0.11274 -0.415000 0.06103 AAG TCGA-HZ-8005-01A-11D-2201-08 MAPK13-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040328.1 1 0 0 3 104 0 26 0 9.388648e-01 0 188 0 26 2 0 0 0 0 0 2 1 0.803465 3 101 0 25 2 0 0 0 0 26 2 -5.646289 1 0 120424 10 17 1 2 2 4 2.348148 1 0.360000 1.820000 0.437016 0.250000 0.060000 1.000000 0.170000 0.404741 0.250000 0 0.120000 1.000000 PPIL1 51645 broad.mit.edu 37 6 36824364 36824364 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:36824364G>A ENST00000373699.5 - 3 529 c.278C>T c.(277-279)aCg>aTg p.T93M PPIL1_ENST00000483552.1_5'UTR NM_016059.4 NP_057143.1 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase (cyclophilin)-like 1 2 ACACTTACCCGTGAATTTCAA 0.463000 0 SO:0001583 missense ENST00000373699.5 1 1 hg19 CCDS4826.1 . . . . . . . . . . G 31 5.079101 0.94050 . . ENSG00000137168 ENST00000373699 T 0.22539 1.95 5.73 5.73 0.89815 Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1); 0.000000 0.85682 D 0.000000 T 0.44623 0.1302 M 0.84846 2.72 0.80722 D 1 D 0.67145 0.996 D 0.68765 0.96 T 0.47394 -0.9121 10 0.66056 D 0.02 . 17.4578 0.87612 0.0:0.0:1.0:0.0 . 93 Q9Y3C6 PPIL1_HUMAN M 93 ENSP00000362803:T93M ENSP00000362803:T93M T - 2 0 PPIL1 36932342 1.000000 0.71417 0.982000 0.44146 0.989000 0.77384 9.640000 0.98453 2.719000 0.93026 0.650000 0.86243 ACG TCGA-HZ-8005-01A-11D-2201-08 PPIL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040382.1 1 0 1 71 247 0 37 1 1 39 71 0 37 2 0 0 0 0 0 2 1 1.000000 70 245 0 37 2 0 0 0 0 37 2 -3.993573 1 1 121412 1 30 1 2 2 4 2.348148 1 0.360000 1.820000 0.437016 0.990000 0.990000 1.000000 1.000000 0.999969 0.990000 1 0.990000 1.000000 TCTE1 202500 broad.mit.edu 37 6 44255545 44255545 + Silent SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr6:44255545C>A ENST00000371505.4 - 2 140 c.18G>T c.(16-18)acG>acT p.T6T RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_5'Flank NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATGCTGATGTCGTTACGGTAT 0.562000 0 SO:0001819 synonymous_variant ENST00000371505.4 0 1 hg19 CCDS4910.1 TCGA-HZ-8005-01A-11D-2201-08 TCTE1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040736.1 0 0 0 10 254 0 45 0 0 0 0 45 2 0 0 0 0 0 2 1 0.996468 10 245 0 42 2 0 0 0 0 45 2 -3.772004 1 1 0 0 1 2 2 4 2.348148 1 0.360000 1.820000 0.437016 0.270000 0.120000 1.000000 0.240000 0.428610 0.270000 0 0.190000 1.000000 AHR 196 broad.mit.edu 37 7 17378954 17378954 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 C A C C Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:17378954C>A ENST00000242057.4 + 10 2148 c.1505C>A c.(1504-1506)cCg>cAg p.P502Q AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor p.P502L(1) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393) AATACTGCACCGATGGGAAAT 0.403000 1 Substitution - Missense(1) SO:0001583 missense ENST00000242057.4 1 1 hg19 CCDS5366.1 . . . . . . . . . . C 11.02 1.514694 0.27123 . . ENSG00000106546 ENST00000242057 T 0.05786 3.39 5.7 4.82 0.62117 . 0.398744 0.27836 N 0.017645 T 0.25901 0.0631 M 0.86953 2.85 0.19575 N 0.999967 P 0.42556 0.783 P 0.55577 0.779 T 0.05241 -1.0897 10 0.54805 T 0.06 . 15.2134 0.73244 0.0:0.9322:0.0:0.0678 . 502 P35869 AHR_HUMAN Q 502 ENSP00000242057:P502Q ENSP00000242057:P502Q P + 2 0 AHR 17345479 0.480000 0.25933 0.002000 0.10522 0.004000 0.04260 6.452000 0.73485 1.548000 0.49413 0.650000 0.86243 CCG TCGA-HZ-8005-01A-11D-2201-08 AHR-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000314620.2 1 0 1 153 640 1 101 1 9.999977e-01 41 82 1 101 6 0 0 0 0 0 2 1 1.000000 150 633 1 101 24 0 0 0 1 101 2 -2.612242 1 1 0 0 1 2 4 6 2.491136 1 0.360000 1.820000 0.473684 0.990000 0.990000 1.000000 1.000000 0.999995 0.990000 1 0.990000 1.000000 CALN1 83698 broad.mit.edu 37 7 71252834 71252834 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:71252834C>T ENST00000329008.5 - 6 884 c.586G>A c.(586-588)Gcc>Acc p.A196T CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000395275.2_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T NM_001017440.2 NP_001017440.1 Q9BXU9 CABP8_HUMAN calneuron 1 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATAGCAAAGGCGCATATGAGG 0.567000 0 SO:0001583 missense ENST00000329008.5 1 1 hg19 CCDS5541.1 . . . . . . . . . . C 32 5.176133 0.94846 . . ENSG00000183166 ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452 T;T;T;T;T;T 0.80123 -1.1;-1.34;-1.1;-1.1;-1.34;-1.1 5.12 5.12 0.69794 . 0.000000 0.85682 D 0.000000 D 0.84800 0.5552 L 0.29908 0.895 0.58432 D 0.999998 D;D 0.89917 1.0;1.0 D;D 0.87578 0.998;0.998 D 0.86975 0.2100 10 0.87932 D 0 -25.7589 17.5493 0.87872 0.0:1.0:0.0:0.0 . 196;196 A4D1Z1;Q9BXU9 .;CABP8_HUMAN T 196;238;196;196;238;196 ENSP00000332498:A196T;ENSP00000378690:A238T;ENSP00000378691:A196T;ENSP00000410704:A196T;ENSP00000391882:A238T;ENSP00000384354:A196T ENSP00000332498:A196T A - 1 0 CALN1 70890770 1.000000 0.71417 1.000000 0.80357 0.985000 0.73830 7.724000 0.84798 2.372000 0.80975 0.561000 0.74099 GCC TCGA-HZ-8005-01A-11D-2201-08 CALN1-004 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000320044.2 1 0 0 27 442 0 55 0 0 0 0 55 2 0 0 0 0 0 2 1 1.000000 26 432 0 55 2 0 0 0 0 55 2 -6.464724 1 1 0 0 1 0 3 3 2.227974 1 0.360000 1.820000 0.413812 0.370000 0.240000 1.000000 0.350000 0.514755 0.370000 0 0.290000 1.000000 GJC3 349149 broad.mit.edu 37 7 99527179 99527179 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr7:99527179C>T ENST00000312891.2 - 1 64 c.65G>A c.(64-66)cGc>cAc p.R22H RP4-604G5.1_ENST00000456499.1_RNA NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAGCAAGAGGCGCCCCACGGG 0.622000 0 SO:0001583 missense ENST00000312891.2 1 1 hg19 CCDS34697.1 . . . . . . . . . . C 13.24 2.179225 0.38511 0.0 5.91E-4 ENSG00000176402 ENST00000312891 D 0.99252 -5.63 4.63 0.835 0.18886 Connexin, N-terminal (1); 0.744172 0.11452 N 0.562693 D 0.97648 0.9229 M 0.64080 1.96 0.28916 N 0.892435 B 0.26081 0.141 B 0.20184 0.028 D 0.96749 0.9552 10 0.66056 D 0.02 . 6.7104 0.23274 0.0:0.5183:0.0:0.4817 . 22 Q8NFK1 CXG3_HUMAN H 22 ENSP00000325775:R22H ENSP00000325775:R22H R - 2 0 GJC3 99365115 1.000000 0.71417 0.885000 0.34714 0.163000 0.22366 2.491000 0.45303 0.298000 0.22638 0.655000 0.94253 CGC TCGA-HZ-8005-01A-11D-2201-08 GJC3-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000345052.1 0 0 0 14 224 0 33 0 0 0 0 33 2 0 0 0 0 0 2 1 0.999737 13 219 0 31 2 0 0 0 0 33 2 -12.248010 1 1 120252 69 47 1 0 3 3 2.260329 1 0.360000 1.820000 0.420500 0.400000 0.210000 1.000000 0.360000 0.527307 0.400000 0 0.290000 1.000000 ODF1 4956 broad.mit.edu 37 8 103564103 103564103 + Missense_Mutation SNP C C A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:103564103C>A ENST00000285402.3 + 1 304 c.148C>A c.(148-150)Cac>Aac p.H50N NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CTGTGACTTGCACCCATATCC 0.493000 0 SO:0001583 missense ENST00000285402.3 1 1 hg19 CCDS6293.1 . . . . . . . . . . C 22.3 4.275978 0.80580 . . ENSG00000155087 ENST00000285402 T 0.39406 1.08 5.83 5.83 0.93111 . 0.000000 0.56097 D 0.000022 T 0.44052 0.1275 N 0.08118 0 0.80722 D 1 D 0.57899 0.981 D 0.65140 0.932 T 0.53464 -0.8435 10 0.87932 D 0 -42.5575 15.6153 0.76760 0.0:1.0:0.0:0.0 . 50 Q14990 ODFP1_HUMAN N 50 ENSP00000285402:H50N ENSP00000285402:H50N H + 1 0 ODF1 103633279 1.000000 0.71417 1.000000 0.80357 0.908000 0.53690 3.754000 0.55189 2.750000 0.94351 0.655000 0.94253 CAC TCGA-HZ-8005-01A-11D-2201-08 ODF1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379884.1 1 0 0 117 1529 0 225 0 0 0 0 225 2 0 0 0 0 0 2 1 1.000000 115 1507 0 220 2 0 0 0 0 225 2 -19.273470 1 1 0 0 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.410000 0.330000 1.000000 0.410000 0.500891 0.410000 0 0.370000 0.500000 ENY2 56943 broad.mit.edu 37 8 110348356 110348356 + Splice_Site SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:110348356G>A ENST00000520147.1 + 2 63 c.e2-1 ENY2_ENST00000521662.1_Splice_Site|ENY2_ENST00000522407.1_Intron|NUDCD1_ENST00000239690.4_5'Flank|ENY2_ENST00000521688.1_Splice_Site enhancer of yellow 2 homolog (Drosophila) 4 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) TTGATGTCCAGGTTAGCAAGA 0.363000 0 SO:0001630 splice_region_variant ENST00000520147.1 1 1 hg19 . . . . . . . . . . G 17.48 3.400636 0.62177 . . ENSG00000120533 ENST00000521688 . . . 5.34 4.41 0.53225 . . . . . . . . . . . 0.80722 D 1 . . . . . . . . . . . . . . 14.2373 0.65934 0.0:0.15:0.85:0.0 . . . . . -1 . . . + . . ENY2 110417532 0.999000 0.42202 1.000000 0.80357 0.976000 0.68499 0.882000 0.28186 2.473000 0.83533 0.655000 0.94253 . TCGA-HZ-8005-01A-11D-2201-08 ENY2-012 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000381006.1 1 0 1 31 169 0 18 1 7.642597e-01 12 5 0 18 2 0 0 0 0 0 2 1 1.000000 31 168 0 18 2 0 0 0 0 18 2 -20.000000 1 1 0 0 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.920000 0.630000 1.000000 1.000000 0.898633 0.920000 1 0.760000 1.000000 ZFAT 57623 broad.mit.edu 37 8 135545161 135545161 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:135545161G>A ENST00000377838.3 - 12 3205 c.3031C>T c.(3031-3033)Cgg>Tgg p.R1011W ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.R999W|ZFAT_ENST00000429442.2_Missense_Mutation_p.R999W|ZFAT_ENST00000523399.1_Missense_Mutation_p.R949W|ZFAT_ENST00000520356.1_Missense_Mutation_p.R999W|ZFAT_ENST00000520727.1_Missense_Mutation_p.R999W NM_001174157.1|NM_020863.3 NP_001167628.1|NP_065914.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TTGTAGTGCCGCTTCAGAGAG 0.592000 0 SO:0001583 missense ENST00000377838.3 0 1 hg19 CCDS47924.1 . . . . . . . . . . G 19.44 3.827545 0.71143 . . ENSG00000066827 ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399 T;T;T;T;T;T 0.31510 1.49;1.49;1.49;1.49;1.49;1.49 5.38 0.744 0.18353 Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2); 0.000000 0.85682 D 0.000000 T 0.55289 0.1911 M 0.80847 2.515 0.51233 D 0.999912 D;D;D;D 0.89917 1.0;1.0;1.0;1.0 D;D;D;D 0.97110 0.998;0.999;1.0;1.0 T 0.63014 -0.6731 10 0.72032 D 0.01 -26.6419 14.7157 0.69265 0.0:0.0:0.3889:0.6111 . 130;949;999;1011 B7Z741;E9PER3;E9PBN4;Q9P243 .;.;.;ZFAT_HUMAN W 999;999;999;1011;999;898;949 ENSP00000427879:R999W;ENSP00000427831:R999W;ENSP00000394501:R999W;ENSP00000367069:R1011W;ENSP00000428483:R999W;ENSP00000429091:R949W ENSP00000326997:R898W R - 1 2 ZFAT 135614343 1.000000 0.71417 0.997000 0.53966 0.994000 0.84299 1.461000 0.35255 0.203000 0.20529 0.585000 0.79938 CGG TCGA-HZ-8005-01A-11D-2201-08 ZFAT-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378272.1 0 0 0 3 58 0 18 0 1.388047e-01 0 10 0 18 2 0 0 0 0 0 2 1 0.807313 3 57 0 18 2 0 0 0 0 18 2 -4.012111 1 0 120956 2 24 1 0 1 1 1.700728 1 0.360000 1.820000 0.219512 0.240000 0.070000 0.550000 0.210000 0.272615 0.240000 0 0.140000 0.390000 DLGAP2 9228 broad.mit.edu 37 8 1497636 1497636 + Silent SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:1497636C>T ENST00000421627.2 + 2 911 c.777C>T c.(775-777)tcC>tcT p.S259S NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) GGGACCTGTCCCTCAAGACCT 0.662000 0 SO:0001819 synonymous_variant ENST00000421627.2 0 1 hg19 CCDS47760.1 . . . . . . . . . . C 6.784 0.513698 0.12944 2.37E-4 9.41E-4 ENSG00000198010 ENST00000520901 . . . 5.3 -8.73 0.00841 . . . . . T 0.51890 0.1701 . . . 0.80722 D 1 . . . . . . T 0.61720 -0.7005 4 . . . -9.8398 12.3303 0.55035 0.6041:0.1817:0.2142:0.0 . . . . L 276 . . P + 2 0 DLGAP2 1485043 0.000000 0.05858 0.113000 0.21522 0.613000 0.37349 -1.696000 0.01912 -1.352000 0.02194 -0.152000 0.13540 CCC TCGA-HZ-8005-01A-11D-2201-08 DLGAP2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374478.1 0 0 0 13 505 0 107 0 0 0 0 107 2 0 0 0 0 0 2 1 0.999512 14 499 0 106 2 0 0 0 0 107 2 -2.974017 1 1 121092 33 49 1 0 1 1 1.705796 1 0.360000 1.820000 0.221222 0.110000 0.060000 0.190000 0.110000 0.122081 0.110000 0 0.080000 0.150000 RP1 6101 broad.mit.edu 37 8 55541791 55541791 + Silent SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:55541791A>G ENST00000220676.1 + 4 5497 c.5349A>G c.(5347-5349)gtA>gtG p.V1783V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCAGTGAGGTACCATATTCAC 0.443000 Colon(91;1014 1389 7634 14542 40420) 0 SO:0001819 synonymous_variant ENST00000220676.1 1 1 hg19 CCDS6160.1 TCGA-HZ-8005-01A-11D-2201-08 RP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000378532.2 1 0 0 12 263 0 35 0 0 0 0 35 2 0 0 0 0 0 2 1 0.999054 12 257 0 35 2 0 0 0 0 35 2 -13.861650 1 1 0 0 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.270000 0.140000 1.000000 0.250000 0.379424 0.270000 0 0.190000 0.470000 STAU2 27067 broad.mit.edu 37 8 74516052 74516052 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 G A G G Valid Somatic Phase_I WXS RNA Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:74516052G>A ENST00000521451.1 - 5 654 c.278C>T c.(277-279)gCg>gTg p.A93V STAU2_ENST00000355780.5_Missense_Mutation_p.A281V|STAU2_ENST00000523558.1_Missense_Mutation_p.A141V|STAU2_ENST00000522695.1_Missense_Mutation_p.A281V|STAU2_ENST00000524300.1_Missense_Mutation_p.A313V|STAU2_ENST00000519961.1_Missense_Mutation_p.A313V|STAU2_ENST00000517542.1_Missense_Mutation_p.A275V|STAU2_ENST00000521210.1_Missense_Mutation_p.A209V|STAU2_ENST00000522509.1_Missense_Mutation_p.A281V|STAU2_ENST00000521727.1_Missense_Mutation_p.A293V Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTGAATTTGCGCCAGGCGGCT 0.403000 0 SO:0001583 missense ENST00000521451.1 1 1 hg19 . . . . . . . . . . G 26.4 4.732859 0.89482 . . ENSG00000040341 ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767 T;T;T;T;T;T;T;T;T;T;T 0.76839 -1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05 5.73 5.73 0.89815 . 0.000000 0.85682 D 0.000000 T 0.80757 0.4684 N 0.17674 0.51 0.80722 D 1 P;D;D;D;P;D;D;D 0.89917 0.951;0.968;1.0;0.968;0.842;0.999;1.0;0.995 B;P;D;P;B;D;D;D 0.91635 0.32;0.63;0.999;0.503;0.214;0.995;0.996;0.932 T 0.76694 -0.2865 10 0.20519 T 0.43 -21.0875 19.8791 0.96888 0.0:0.0:1.0:0.0 . 293;209;141;209;281;313;281;313 E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26 .;.;.;.;.;.;.;. V 281;313;141;209;281;313;293;93;281;275;141 ENSP00000428456:A281V;ENSP00000428756:A313V;ENSP00000428741:A141V;ENSP00000429173:A209V;ENSP00000348026:A281V;ENSP00000430907:A313V;ENSP00000429973:A293V;ENSP00000428476:A93V;ENSP00000427977:A281V;ENSP00000431111:A275V;ENSP00000429005:A141V ENSP00000344030:A141V A - 2 0 STAU2 74678606 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 9.218000 0.95166 2.706000 0.92434 0.585000 0.79938 GCG TCGA-HZ-8005-01A-11D-2201-08 STAU2-006 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000379006.4 1 0 1 87 272 0 57 1 9.999992e-01 24 43 0 57 2 0 0 0 0 0 2 1 1.000000 85 271 0 57 2 0 0 0 0 57 2 -4.790735 1 1 121412 3 36 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.990000 0.990000 1.000000 1.000000 0.999987 0.990000 1 0.990000 1.000000 FABP12 646486 broad.mit.edu 37 8 82439272 82439272 + Missense_Mutation SNP C C T TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:82439272C>T ENST00000360464.4 - 3 393 c.331G>A c.(331-333)Gat>Aat p.D111N RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 4 ATTTTCCCATCCACCAGCTTT 0.413000 0 SO:0001583 missense ENST00000360464.4 1 1 hg19 CCDS47882.1 . . . . . . . . . . C 17.42 3.385251 0.61956 . . ENSG00000197416 ENST00000360464 T 0.08282 3.11 5.18 5.18 0.71444 Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1); 0.154736 0.56097 D 0.000026 T 0.11495 0.0280 L 0.52823 1.66 0.50467 D 0.999878 B 0.10296 0.003 B 0.17979 0.02 T 0.02417 -1.1162 10 0.54805 T 0.06 . 14.592 0.68373 0.1464:0.8536:0.0:0.0 . 111 A6NFH5 FBP12_HUMAN N 111 ENSP00000353650:D111N ENSP00000353650:D111N D - 1 0 FABP12 82601827 1.000000 0.71417 1.000000 0.80357 0.946000 0.59487 5.114000 0.64648 2.679000 0.91253 0.655000 0.94253 GAT TCGA-HZ-8005-01A-11D-2201-08 FABP12-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000379720.1 1 0 0 8 102 0 26 0 0 0 0 26 2 0 0 0 0 0 2 1 0.989069 8 99 0 26 2 0 0 0 0 26 2 -5.416659 1 1 0 0 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.460000 0.210000 1.000000 0.410000 0.538200 0.460000 0 0.320000 0.850000 LRRCC1 85444 broad.mit.edu 37 8 86038981 86038981 + Missense_Mutation SNP G G A TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr8:86038981G>A ENST00000360375.3 + 9 1479 c.1330G>A c.(1330-1332)Gaa>Aaa p.E444K LRRCC1_ENST00000414626.2_Missense_Mutation_p.E424K NM_033402.4 NP_208325.3 Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 43 TGAGCAAGCCGAAAATAAACT 0.373000 0 SO:0001583 missense ENST00000360375.3 1 0 hg19 CCDS43750.1 3 0.0013736263736263737 3 0.006097560975609756 0 0.0 0 0.0 0 0.0 G 26.0 4.693391 0.88735 0.005914 2.44E-4 ENSG00000133739 ENST00000360375;ENST00000414626 T;T 0.32272 1.46;1.47 5.56 5.56 0.83823 . 0.000000 0.36893 N 0.002360 T 0.41026 0.1141 M 0.66939 2.045 0.43003 D 0.994525 D;D;D;D 0.89917 0.999;0.999;1.0;0.99 D;D;D;P 0.65010 0.915;0.931;0.915;0.596 T 0.39742 -0.9599 10 0.05721 T 0.95 -23.8999 19.1212 0.93364 0.0:0.0:1.0:0.0 . 351;424;351;444 B4DV06;Q9C099-2;E9PE41;Q9C099 .;.;.;LRCC1_HUMAN K 444;424 ENSP00000353538:E444K;ENSP00000394695:E424K ENSP00000353538:E444K E + 1 0 LRRCC1 86226233 1.000000 0.71417 1.000000 0.80357 0.932000 0.56968 5.892000 0.69790 2.632000 0.89209 0.655000 0.94253 GAA TCGA-HZ-8005-01A-11D-2201-08 LRRCC1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000380267.1 1 0 1 61 294 0 76 1 9.818066e-01 8 25 0 76 2 0 0 0 0 0 2 1 1.000000 58 278 0 76 2 0 0 0 0 76 2 -3.065198 1 1 120822 112 51 1 1 2 3 2.149319 0 0.360000 1.820000 0.382239 0.990000 0.780000 1.000000 1.000000 0.958901 0.990000 1 0.880000 1.000000 TLR4 7099 broad.mit.edu 37 9 120475078 120475078 + Silent SNP A A G TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chr9:120475078A>G ENST00000355622.6 + 3 773 c.672A>G c.(670-672)aaA>aaG p.K224K TLR4_ENST00000394487.4_Silent_p.K184K|TLR4_ENST00000472304.1_3'UTR NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 103 Naloxone(DB01183) GTGCATTTAAAGAAATTAGGC 0.373000 0 SO:0001819 synonymous_variant ENST00000355622.6 1 1 hg19 CCDS6818.1 TCGA-HZ-8005-01A-11D-2201-08 TLR4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000055549.3 1 0 0 37 342 0 81 0 4.454561e-01 0 15 0 81 2 0 0 0 0 0 2 1 1.000000 37 337 0 81 2 0 0 0 0 81 2 -20.000000 1 1 0 0 1 0 1 1 1.683078 1 0.360000 1.820000 0.219512 0.440000 0.310000 0.580000 0.440000 0.450108 0.440000 0 0.370000 0.520000 GPRASP1 9737 broad.mit.edu 37 X 101910080 101910080 + Silent SNP C C T rs144058687 byFrequency TCGA-HZ-8005-01A-11D-2201-08 TCGA-HZ-8005-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5e58f9b-f9f5-4dea-a34a-bb940edba3cc fe7724ac-a5b6-4031-85fb-6ae0cde16caf g.chrX:101910080C>T ENST00000361600.5 + 5 2040 c.1239C>T c.(1237-1239)gaC>gaT p.D413D GPRASP1_ENST00000415986.1_Silent_p.D413D|GPRASP1_ENST00000444152.1_Silent_p.D413D|GPRASP1_ENST00000537097.1_Silent_p.D413D|RP4-769N13.7_ENST00000602441.1_RNA NM_014710.4 NP_055525.3 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 60 GGGCTACAGACGAGTCCAGCA 0.542000 0 SO:0001819 synonymous_variant ENST00000361600.5 1 1 hg19 CCDS35352.1 TCGA-HZ-8005-01A-11D-2201-08 GPRASP1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000057634.2 1 0 1 112 238 0 53 0 7.107674e-01 0 7 0 53 2 0 0 0 0 0 2 1 1.000000 111 234 0 52 2 0 0 0 0 53 2 -20.000000 1 1 121410 6 38 1 0 1 1 0.360000 1.820000 0.360000 0.870000 0.740000 0.990000 0.880000 0.879308 0.870000 1 0.810000 0.940000