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 UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ANO6 196527 broad.mit.edu 37 12 45803201 45803201 + Nonsense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:45803201C>T ENST00000320560.8 + 16 2144 c.1942C>T c.(1942-1944)Cga>Tga p.R648* ANO6_ENST00000435642.1_Nonsense_Mutation_p.R648*|ANO6_ENST00000441606.2_Nonsense_Mutation_p.R630*|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Nonsense_Mutation_p.R648*|ANO6_ENST00000423947.3_Nonsense_Mutation_p.R669* NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 648 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GATAACCCCACGATGGGAACA 0.353000 160 332 0 0 0.870114 0 0 SLC9A3R2 9351 broad.mit.edu 37 16 2086466 2086466 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:2086466G>A ENST00000424542.2 + 3 694 c.556G>A c.(556-558)Gcc>Acc p.A186T SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A186T|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A75T|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A80T NM_001130012.2|NM_004785.5 NP_001123484.1|NP_004776.3 Q15599 NHRF2_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 186 PDZ 2. protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1)|endometrium(1) 2 CTCACCTGCCGCCCGCTCTGG 0.697000 20 71 0 0 0.608945 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172204 207172204 + Silent SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:207172204G>A ENST00000374423.3 + 5 3338 c.2952G>A c.(2950-2952)aaG>aaA p.K984K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 984 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AAAGAGAAAAGCACGCTGAAT 0.398000 77 254 0 0 0.870114 0 0 PC 5091 broad.mit.edu 37 11 66637839 66637839 + Silent SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:66637839G>A ENST00000393960.1 - 9 1118 c.837C>T c.(835-837)ccC>ccT p.P279P PC_ENST00000393958.2_Silent_p.P279P|PC_ENST00000355677.3_Silent_p.P279P|PC_ENST00000393955.2_Silent_p.P279P|PC_ENST00000524491.1_Silent_p.P239P NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 279 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGTGGGCGGCGGGGGCAATCT 0.637000 79 435 0 0 0.870114 0 0 PCDHGA11 0 broad.mit.edu 37 5 140800914 140800914 + Silent SNP C C T rs147068995 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:140800914C>T ENST00000398587.2 + 1 153 c.120C>T c.(118-120)acC>acT p.T40T PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.T40T|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAAGAGACCGAAAAGGGCT 0.652000 119 200 0 0 0.870114 0 0 XIRP2 129446 broad.mit.edu 37 2 168099977 168099977 + Missense_Mutation SNP T T C TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:168099977T>C ENST00000409195.1 + 9 2164 c.2075T>C c.(2074-2076)gTg>gCg p.V692A XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V692A|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V470A|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 517 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTCAAGACTGTGAGATACATG 0.403000 70 250 0 0 0.870114 0 0 SLC22A11 55867 broad.mit.edu 37 11 64323727 64323727 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:64323727C>T ENST00000301891.4 + 1 630 c.256C>T c.(256-258)Cgc>Tgc p.R86C SLC22A11_ENST00000377585.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R86C|SLC22A11_ENST00000490834.1_3'UTR NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 86 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) CCACCAGTGCCGCCGCTTCCG 0.652000 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 271 696 0 0 0.870114 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077157 34077157 + Missense_Mutation SNP T T G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:34077157T>G ENST00000254466.6 - 2 593 c.566A>C c.(565-567)gAc>gCc p.D189A GAS2L2_ENST00000587565.1_Intron NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 189 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CGGCGAGGGGTCGGGCGGGGG 0.741000 23 363 0 0 0.796494 0 0 CR2 1380 broad.mit.edu 37 1 207643052 207643052 + Missense_Mutation SNP C C T rs115418682 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr1:207643052C>T ENST00000367057.3 + 6 1019 c.830C>T c.(829-831)cCa>cTa p.P277L CR2_ENST00000458541.2_Missense_Mutation_p.P277L|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.P277L|CR2_ENST00000367058.3_Missense_Mutation_p.P277L NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 277 Sushi 5. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATTTTTTGCCCATCACCTCCC 0.428000 87 455 0 0 0.870114 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 125 0 0 0.184627 0 0 LRFN4 78999 broad.mit.edu 37 11 66625342 66625342 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:66625342C>T ENST00000309602.4 + 1 370 c.127C>T c.(127-129)Ccg>Tcg p.P43S PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.P43S|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 43 LRRNT. integral to membrane breast(1)|lung(1)|prostate(1) 3 GCTGTTTGTGCCGCCCAACGT 0.687000 5 276 0 0 0.184627 0 0 MPP6 51678 broad.mit.edu 37 7 24690147 24690147 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr7:24690147G>A ENST00000396475.2 + 6 766 c.467G>A c.(466-468)cGa>cAa p.R156Q MPP6_ENST00000409761.1_Missense_Mutation_p.R44Q|MPP6_ENST00000222644.4_Missense_Mutation_p.R156Q NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 156 PDZ. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GTAATTGCCCGAATCCTCCAT 0.353000 7 400 0 0 0.278610 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103022865 103022865 + Splice_Site SNP A A T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:103022865A>T ENST00000375735.2 + 21 3091 c.2946_splice c.e21-1 p.I983_splice DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.I983_splice NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 983 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAACCTTTAGATTTTGCCCTT 0.269000 11 107 0 0 0.457914 0 0 WDR36 134430 broad.mit.edu 37 5 110428198 110428198 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:110428198C>T ENST00000506538.2 + 1 785 c.212C>T c.(211-213)gCg>gTg p.A71V WDR36_ENST00000513710.2_Missense_Mutation_p.A71V|WDR36_ENST00000505303.1_Missense_Mutation_p.A15V NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 71 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GCGCTTTTTGCGGGGTTCCGG 0.612000 7 357 0 0 0.248553 0 0 DHTKD1 55526 broad.mit.edu 37 10 12142180 12142180 + Missense_Mutation SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:12142180A>G ENST00000263035.4 + 9 1737 c.1675A>G c.(1675-1677)Aga>Gga p.R559G NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 559 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTTACAGTCCAGAATGGAGAA 0.413000 259 802 0 0 0.870114 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098962 178098962 + Missense_Mutation SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:178098962A>G ENST00000397062.3 - 2 637 c.83T>C c.(82-84)aTa>aCa p.I28T NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 28 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.I28T(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCCAAGATCTATATCTTGCCT 0.358000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 62 207 0 0 0.870114 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 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) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 19 138 0 0 0.624587 0 0 OLFML2A 169611 broad.mit.edu 37 9 127549437 127549437 + Missense_Mutation SNP G G A rs147454300 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr9:127549437G>A ENST00000373580.3 + 2 274 c.274G>A c.(274-276)Gca>Aca p.A92T NM_182487.2 NP_872293.2 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A 92 endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 25 CTCCTGTACCGCACCTCCCTC 0.617000 88 189 0 0 0.870114 0 0 CROCCP3 0 broad.mit.edu 37 1 16812982 16812982 + RNA SNP A A C rs139388756 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr1:16812982A>C ENST00000263511.4 - 0 1329 NR_023386.1 AGGTCCTTCTAGTGGAGCACC 0.667000 4 25 0 0 0.150653 0 0 KLHL40 131377 broad.mit.edu 37 3 42728164 42728164 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr3:42728164G>A ENST00000287777.4 + 1 1154 c.1054G>A c.(1054-1056)Gtc>Atc p.V352I NM_152393.2 NP_689606.2 kelch-like family member 40 CAAGAACCACGTCAGCCTGGT 0.557000 84 225 0 0 0.870114 0 0 EBF3 253738 broad.mit.edu 37 10 131639152 131639152 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:131639152G>A ENST00000368648.3 - 14 1562 c.1490C>T c.(1489-1491)tCg>tTg p.S497L EBF3_ENST00000355311.5_Missense_Mutation_p.S506L NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 506 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) AAATCCAGGCGAGCCAGGGAC 0.522000 162 519 0 0 0.870114 0 0 ANKRD26 22852 broad.mit.edu 37 10 27324226 27324226 + Silent SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:27324226A>G ENST00000376087.4 - 24 3318 c.3153T>C c.(3151-3153)gaT>gaC p.D1051D ANKRD26_ENST00000436985.2_Silent_p.D1067D|ANKRD26_ENST00000376070.3_Silent_p.D608D NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1050 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GGTTAGACACATCAAAATTCA 0.343000 128 332 0 0 0.870114 0 0 CHRD 8646 broad.mit.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr3:184104344T>G ENST00000204604.1 + 16 2243 c.1997T>G c.(1996-1998)gTg>gGg p.V666G CHRD_ENST00000450923.1_Missense_Mutation_p.V666G|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|EIF2B5_ENST00000444495.1_Intron NM_003741.2 NP_003732.2 Q9H2X0 CHRD_HUMAN chordin 666 BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCCGAGGGGGTGCGGGCGCTG 0.726000 10 39 0 0 0.667858 0 0 BRF1 2972 broad.mit.edu 37 14 105707720 105707720 + Missense_Mutation SNP G G T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr14:105707720G>T ENST00000546474.1 - 6 15535 c.576C>A c.(574-576)caC>caA p.H192Q BRF1_ENST00000379937.2_Missense_Mutation_p.H165Q|BRF1_ENST00000446501.2_Intron|BRF1_ENST00000379932.4_5'UTR|BRF1_ENST00000440513.3_Missense_Mutation_p.H77Q|BRF1_ENST00000392557.4_5'UTR|BRF1_ENST00000551787.1_5'UTR|BRF1_ENST00000327359.3_Missense_Mutation_p.H77Q NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 192 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) ATTCCAGCAGGTGCGCAAAGC 0.632000 58 231 7.50695e-29 8.07814e-29 0.870114 1 0 PXDN 7837 broad.mit.edu 37 2 1668825 1668825 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:1668825G>A ENST00000252804.4 - 11 1363 c.1313C>T c.(1312-1314)aCg>aTg p.T438M NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 438 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GTCCTGAGGCGTCACAGTGAA 0.532000 22 69 0 0 0.608945 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212459533 212459533 + Silent SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr1:212459533A>G ENST00000261461.2 + 1 655 c.81A>G c.(79-81)aaA>aaG p.K27K NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 27 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) TCACCCGGAAATCGGTCCGCA 0.701000 48 80 0 0 0.870114 0 0 SPTB 6710 broad.mit.edu 37 14 65266502 65266502 + Missense_Mutation SNP C C T rs149837193 byFrequency TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr14:65266502C>T ENST00000389722.3 - 8 1080 c.1027G>A c.(1027-1029)Gcc>Acc p.A343T SPTB_ENST00000389720.3_Missense_Mutation_p.A343T|SPTB_ENST00000542895.1_Missense_Mutation_p.A343T|SPTB_ENST00000389721.5_Missense_Mutation_p.A343T|SPTB_ENST00000556626.1_Missense_Mutation_p.A343T NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 343 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTGCTGAAGGCCTGCAGCTGC 0.617000 105 299 0 0 0.870114 0 0 B3GAT1 27087 broad.mit.edu 37 11 134254062 134254062 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:134254062G>A ENST00000524765.1 - 3 4677 c.133C>T c.(133-135)Cgc>Tgc p.R45C B3GAT1_ENST00000537389.1_Missense_Mutation_p.R58C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R45C|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R45C|B3GAT1_ENST00000531510.1_5'UTR Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 45 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GGCGTTTCGCGTCGGGGGTCA 0.711000 51 135 0 0 0.870114 0 0 SNAP25 6616 broad.mit.edu 37 20 10273541 10273541 + Missense_Mutation SNP C C T rs146976467 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr20:10273541C>T ENST00000304886.2 + 5 383 c.175C>T c.(175-177)Cgt>Tgt p.R59C SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron NM_003081.3 NP_003072.2 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 59 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.R59C(1) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) ACAACTCGATCGTGTCGAAGA 0.403000 94 344 0 0 0.870114 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41101367 41101367 + Silent SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:41101367C>T ENST00000355341.4 + 2 831 c.330C>T c.(328-330)ttC>ttT p.F110F ZFYVE19_ENST00000563530.1_3'UTR|ZFYVE19_ENST00000336455.5_Silent_p.F100F|ZFYVE19_ENST00000299173.10_Silent_p.F110F|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000570108.1_Silent_p.F87F NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 110 zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCCTAAGCTTCAGTGCAGCAG 0.562000 9 476 0 0 0.307466 0 0 MYEOV 26579 broad.mit.edu 37 11 69063185 69063185 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:69063185G>A ENST00000535407.1 + 2 737 c.94G>A c.(94-96)Gtg>Atg p.V32M MYEOV_ENST00000308946.3_Missense_Mutation_p.V90M|MYEOV_ENST00000441339.2_Missense_Mutation_p.V90M Q96EZ4 MYEOV_HUMAN myeloma overexpressed 90 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) GCGTGTTGCGGTGAGAGGAGC 0.632000 83 578 0 0 0.870114 0 0 TAF5 6877 broad.mit.edu 37 10 105128042 105128042 + Missense_Mutation SNP C C A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:105128042C>A ENST00000369839.3 + 1 319 c.296C>A c.(295-297)gCc>gAc p.A99D TAF5_ENST00000351396.4_Missense_Mutation_p.A99D NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 99 LisH. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTCTACTGGCCGTGCTGCAG 0.756000 3 52 6.4e-05 6.66947e-05 0.115264 1 0 GPT2 84706 broad.mit.edu 37 16 46956249 46956249 + Missense_Mutation SNP C C A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:46956249C>A ENST00000440783.2 + 9 1498 c.833C>A c.(832-834)cCa>cAa p.P278Q GPT2_ENST00000340124.4_Missense_Mutation_p.P378Q NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 378 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGTGCCCCCCAGTGTCTGGG 0.607000 160 491 3.12418e-63 3.47521e-63 0.870114 1 0 ARNT2 9915 broad.mit.edu 37 15 80800573 80800573 + Silent SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:80800573G>A ENST00000533983.1 + 7 1005 c.666G>A c.(664-666)tcG>tcA p.S222S ARNT2_ENST00000303329.4_Silent_p.S233S|ARNT2_ENST00000527771.1_Silent_p.S222S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 233 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GCATGGGCTCGCGGCGGTCTT 0.537000 79 320 0 0 0.870114 0 0 DYRK1B 9149 broad.mit.edu 37 19 40316442 40316442 + Silent SNP T T G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:40316442T>G ENST00000593685.1 - 11 2271 c.1803A>C c.(1801-1803)ccA>ccC p.P601P DYRK1B_ENST00000597639.1_Silent_p.P573P|DYRK1B_ENST00000430012.2_Silent_p.P561P|DYRK1B_ENST00000348817.3_Silent_p.P573P|DYRK1B_ENST00000323039.5_Silent_p.P601P Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 601 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GCGGGAGGGGTGGACGACCTC 0.716000 8 78 0 0 0.592651 0 0 SUZ12 23512 broad.mit.edu 37 17 30303572 30303572 + Nonsense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:30303572C>T ENST00000322652.5 + 8 1085 c.856C>T c.(856-858)Cga>Tga p.R286* SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263* NM_015355.2 NP_056170.2 Q15022 SUZ12_HUMAN SUZ12 polycomb repressive complex 2 subunit 286 negative regulation of cell differentiation|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|methylated histone residue binding|zinc ion binding p.R286*(1) SSH2/SUZ12(2)|JAZF1/SUZ12(133) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1) 21 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231) CAGAAGAAAACGAAATCGTGA 0.343000 T JAZF1 endometrial stromal tumours 5 186 0 0 0.217242 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 67 156 0 0 0.870114 0 0 C2orf71 388939 broad.mit.edu 37 2 29295775 29295775 + Silent SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:29295775C>T ENST00000331664.5 - 1 1352 c.1353G>A c.(1351-1353)ggG>ggA p.G451G NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 451 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 GGGTGCTTGTCCCCAGCTTCA 0.542000 127 389 0 0 0.870114 0 0 AACSP1 0 broad.mit.edu 37 5 178194331 178194331 + RNA SNP C C T rs112953089 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:178194331C>T ENST00000503486.2 - 0 1306 NR_024035.1 TGCCACTGAGCGTGTACTGCG 0.527000 23 70 0 0 0.624587 0 0 KRT39 390792 broad.mit.edu 37 17 39122914 39122914 + Silent SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:39122914A>G ENST00000355612.2 - 1 230 c.195T>C c.(193-195)ttT>ttC p.F65F AC004231.2_ENST00000418393.1_RNA NM_213656.3 NP_998821.3 Q6A163 K1C39_HUMAN keratin 39 65 Head. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 17 Breast(137;0.00043)|Ovarian(249;0.15) GCTTGCGACAAAAGCGAGGAG 0.522000 214 753 0 0 0.870114 0 0 CACNA1C 775 broad.mit.edu 37 12 2702421 2702421 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:2702421G>A ENST00000399655.1 + 19 2838 c.2573G>A c.(2572-2574)cGc>cAc p.R858H CACNA1C_ENST00000402845.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R883H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R858H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R858H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R858H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R858H NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 858 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GTCGGCCCTCGCCCACGACCA 0.512000 40 181 0 0 0.819951 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520323 33520323 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:33520323C>T ENST00000297307.5 - 1 1089 c.1004G>A c.(1003-1005)aGg>aAg p.R335K NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 335 integral to membrane p.R335K(4) CTCCTCCACCCTCCCTGTCCT 0.557000 5 296 0 0 0.184627 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 6 457 0 0 0.217242 0 0 SLC35A2 7355 broad.mit.edu 37 X 48761886 48761886 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chrX:48761886G>A ENST00000445167.2 - 4 729 c.710C>T c.(709-711)tCt>tTt p.S237F SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000247138.5_Intron|SLC35A2_ENST00000376521.1_3'UTR|SLC35A2_ENST00000376515.3_Missense_Mutation_p.S213F|SLC35A2_ENST00000376529.3_Intron NM_001032289.1 NP_001027460.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 36 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 TGGGAGAAAAGACCATCTCCC 0.642000 27 19 0 0 0.706142 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 6 321 0 0 0.278610 0 0 MMP16 4325 broad.mit.edu 37 8 89086968 89086968 + Nonsense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr8:89086968G>A ENST00000286614.6 - 7 1368 c.1087C>T c.(1087-1089)Cag>Tag p.Q363* MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 363 Hemopexin-like 1. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 CAAAACCACTGGTCCTGCAAA 0.498000 99 329 0 0 0.870114 0 0 FZD10 11211 broad.mit.edu 37 12 130647817 130647817 + Nonsense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:130647817C>T ENST00000539839.1 + 1 814 c.232C>T c.(232-234)Cga>Tga p.R78* FZD10_ENST00000229030.4_Silent_p.C110C NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GGGTCATGTGCGAGCAGGCCC 0.642000 31 584 0 0 0.740014 0 0 DYTN 391475 broad.mit.edu 37 2 207572064 207572064 + Silent SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:207572064C>T ENST00000452335.2 - 3 374 c.258G>A c.(256-258)ccG>ccA p.P86P NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 86 plasma membrane zinc ion binding p.P86P(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GAGTGAGTTCCGGAGCTCTGG 0.522000 13 64 0 0 0.435327 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702139 27702139 + Silent SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:27702139G>A ENST00000438700.3 - 1 1158 c.1041C>T c.(1039-1041)ctC>ctT p.L347L NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 347 spermatid development integral to membrane hedgehog receptor activity p.L347L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TAAATTGATCGAGCAAATGGG 0.517000 346 1057 0 0 0.870114 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 150 0 0 0.335167 0 0 TERT 0 broad.mit.edu 37 5 1268676 1268676 + Nonsense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:1268676G>A ENST00000296820.5 - 7 2416 c.2359C>T c.(2359-2361)Cga>Tga p.R787* TERT_ENST00000334602.6_Silent_p.G847G|TERT_ENST00000310581.5_Silent_p.G847G|TERT_ENST00000508104.2_Nonsense_Mutation_p.R787* O14746 TERT_HUMAN telomerase reverse transcriptase 0 Reverse transcriptase. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCTCCATGTCGCCGTAGCACA 0.627000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 68 264 0 0 0.870114 0 0 IL31RA 133396 broad.mit.edu 37 5 55206448 55206448 + Silent SNP C C A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:55206448C>A ENST00000396834.1 + 14 2029 c.1533C>A c.(1531-1533)acC>acA p.T511T IL31RA_ENST00000359040.5_Silent_p.T530T|IL31RA_ENST00000490985.1_Silent_p.T388T|IL31RA_ENST00000447346.2_Silent_p.T530T|IL31RA_ENST00000354961.4_Silent_p.T511T NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 498 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TGGCCAGCACCAGTGCTGGGG 0.473000 134 584 4.28411e-51 4.66074e-51 0.870114 1 0 PLCE1 51196 broad.mit.edu 37 10 96005755 96005755 + Missense_Mutation SNP A A G TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:96005755A>G ENST00000260766.3 + 8 3107 c.2473A>G c.(2473-2475)Aaa>Gaa p.K825E PLCE1_ENST00000371375.1_Missense_Mutation_p.K517E|PLCE1_ENST00000371385.3_Missense_Mutation_p.K517E|PLCE1_ENST00000371380.2_Missense_Mutation_p.K825E NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 825 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGAGCAATCCAAAGAATACGA 0.433000 110 295 0 0 0.870114 0 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 8 42 0 0 0.411799 0 0 COL6A1 1291 broad.mit.edu 37 21 47422162 47422162 + Silent SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr21:47422162C>T ENST00000361866.3 + 32 2211 c.2097C>T c.(2095-2097)ggC>ggT p.G699G COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 699 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GGATGGCGGGCGGCACCTTCA 0.697000 21 54 0 0 0.592651 0 0 SHC4 399694 broad.mit.edu 37 15 49255053 49255053 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:49255053C>T ENST00000332408.4 - 1 588 c.160G>A c.(160-162)Ggc>Agc p.G54S NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 54 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TGCGGCGAGCCCTTGTTCCCG 0.662000 150 418 0 0 0.870114 0 0 HRC 3270 broad.mit.edu 37 19 49658442 49658442 + Missense_Mutation SNP G G T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:49658442G>T ENST00000252825.4 - 1 239 c.53C>A c.(52-54)gCc>gAc p.A18D HRC_ENST00000595625.1_Missense_Mutation_p.A18D NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 18 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GAGCAGGCTGGCCACCCCAGC 0.667000 107 313 4.22592e-57 4.64852e-57 0.870114 1 0 PLXDC2 84898 broad.mit.edu 37 10 20534299 20534299 + Missense_Mutation SNP G G C TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr10:20534299G>C ENST00000377252.3 + 13 2179 c.1338G>C c.(1336-1338)gaG>gaC p.E446D PLXDC2_ENST00000377242.3_Missense_Mutation_p.E397D|PLXDC2_ENST00000377238.2_3'UTR NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 446 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 GTGCAGCTGAGAAGAAAGGGG 0.468000 84 329 0 0 0.870114 0 0 TAF2 6873 broad.mit.edu 37 8 120843973 120843973 + Splice_Site SNP T T C TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr8:120843973T>C ENST00000378164.2 - 2 382 c.e2-2 NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGATGGGTTGtatattaataa 0.244000 60 158 0 0 0.870114 0 0 MTMR4 9110 broad.mit.edu 37 17 56582201 56582201 + Missense_Mutation SNP C C T TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:56582201C>T ENST00000323456.5 - 12 1362 c.1238G>A c.(1237-1239)cGc>cAc p.R413H MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 413 Myotubularin phosphatase.|Substrate binding (By similarity). cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGCGGTGTGCGGTCCCAGCC 0.532000 9 761 0 0 0.307466 0 0 COL6A5 256076 broad.mit.edu 37 3 130095344 130095344 + Missense_Mutation SNP G G C TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr3:130095344G>C ENST00000265379.6 + 3 826 c.332G>C c.(331-333)gGa>gCa p.G111A COL6A5_ENST00000432398.2_Missense_Mutation_p.G111A A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 111 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CTGCAGATAGGAAAGGCTCTT 0.502000 15 42 0 0 0.457914 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 6 270 0 0 0.217242 0 0 RP11-86H7.1 0 broad.mit.edu 37 1 95215655 95215656 + RNA INS - - AG TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr1:95215655_95215656insAG ENST00000452922.1 - 0 326 gaaagaaagaaagaaagaaaga 0.312 2 4 --- --- --- --- GS1-204I12.1 0 broad.mit.edu 37 1 185588813 185588814 + RNA DEL AC AC - rs113755277 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr1:185588813_185588814delAC ENST00000436955.1 - 0 424 TATATTacagacacacacacac 0.381 2 4 --- --- --- --- AC096559.1 0 broad.mit.edu 37 2 12607546 12607549 + RNA DEL CTAT CTAT - rs7568368 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:12607546_12607549delCTAT ENST00000412294.1 + 0 412 tccttccttcctatcttccttcct 0.471 8 5 --- --- --- --- AC018730.1 0 broad.mit.edu 37 2 105440965 105440966 + RNA INS - - TGG rs150937258 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:105440965_105440966insTGG ENST00000458253.1 - 0 147 AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA gatggtggtgatggtggtggtg 0.569 6 7 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 --- --- --- --- HOXD-AS2 0 broad.mit.edu 37 2 177000879 177000882 + RNA DEL ACAC ACAC - rs72244756 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr2:177000879_177000882delACAC ENST00000440016.2 - 0 393 HOXD-AS2_ENST00000426965.1_RNA AAAGAAAAGAacacacacacacac 0.500 3 3 --- --- --- --- RP11-48F14.1 0 broad.mit.edu 37 3 186173679 186173680 + RNA DEL AC AC - rs72278665 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr3:186173679_186173680delAC ENST00000427914.1 - 0 1763 NR_033844.1 CACCCCAAAGacacacacacac 0.416 2 4 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 212236 212236 + RNA DEL A A - rs80061878 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr4:212236delA ENST00000356347.3 + 0 172 NR_027481.1 ctaaaaatacaaaaaaaaaaa 0.493 3 5 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 8 87 --- --- --- --- RP11-125O18.1 0 broad.mit.edu 37 4 128018839 128018840 + RNA INS - - GT rs4000742 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr4:128018839_128018840insGT ENST00000504050.1 - 0 483 AATGCGTGCACgtgtgtgtgtg 0.391 4 2 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 7 1315 --- --- --- --- NR2F1-AS1 0 broad.mit.edu 37 5 92791549 92791550 + RNA INS - - CA rs148016646 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:92791549_92791550insCA ENST00000607797.1 - 0 1229 NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA NR_015369.1 acacacacacgcacacacacac 0.322 3 4 --- --- --- --- UNC5A 90249 broad.mit.edu 37 5 176301302 176301304 + In_Frame_Del DEL CAC CAC - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr5:176301302_176301304delCAC ENST00000329542.4 + 8 1387_1389 c.1113_1115delCAC c.(1111-1116)agc>ag p.ST371del UNC5A_ENST00000261961.3_In_Frame_Del_p.ST331del NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 371 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGGACCTCAGCACCACCACCACC 0.645 7 823 --- --- --- --- RP11-446F17.3 0 broad.mit.edu 37 6 46652103 46652104 + RNA DEL TG TG - rs71830540 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr6:46652103_46652104delTG ENST00000434329.2 - 0 232 RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA agcacacatttgtgtgtgtgtg 0.381 4 4 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100281686 100281688 + In_Frame_Del DEL GCT GCT - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr7:100281686_100281688delGCT ENST00000275732.5 - 15 3032_3034 c.1823_1825delAGC c.(1822-1827)ctc>c p.QL608del NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 608 Gln-rich.|Poly-Gln. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) AATGCCGTGAGCTGCTGCTGCTG 0.690 7 187 --- --- --- --- RP5-921G16.1 0 broad.mit.edu 37 7 123674369 123674370 + RNA INS - - TCCT rs142512049 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr7:123674369_123674370insTCCT ENST00000484322.1 + 0 75 ccctctttATCtccttccttcc 0.550 5 5 --- --- --- --- RP11-587H10.2 0 broad.mit.edu 37 8 93644950 93644951 + RNA INS - - TGTG rs138735990 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr8:93644950_93644951insTGTG ENST00000523284.1 - 0 272 GGTAGGCTGCAtgtgtgtgtgt 0.366 4 3 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 8 209 --- --- --- --- RP11-531H8.1 0 broad.mit.edu 37 11 15607493 15607494 + RNA INS - - AC rs141728428 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr11:15607493_15607494insAC ENST00000527770.1 + 0 550 RP11-531H8.2_ENST00000533082.1_lincRNA tgagtATTCAAacacacacaca 0.366 4 2 --- --- --- --- DCP1B 196513 broad.mit.edu 37 12 2064701 2064701 + Frame_Shift_Del DEL T T - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:2064701delT ENST00000280665.6 - 6 627 c.548delA c.(547-549)agfs p.K183fs DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 183 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) ACTGGTTATCTTTTTTGGCTC 0.378 9 1014 --- --- --- --- RP11-654D12.2 0 broad.mit.edu 37 12 90305779 90305782 + RNA DEL ATGT ATGT - rs9308288 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr12:90305779_90305782delATGT ENST00000547370.1 + 0 227 AAGTAAgtgcatgtgtgtgtgtgt 0.387 3 3 --- --- --- --- LINC00566 0 broad.mit.edu 37 13 24906734 24906735 + RNA INS - - TGTG rs141391870 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr13:24906734_24906735insTGTG ENST00000561557.1 + 0 87 attccataatatgtgtgtgtgt 0.396 3 3 --- --- --- --- LINC00519 0 broad.mit.edu 37 14 51783551 51783552 + RNA DEL CA CA - rs72286703 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr14:51783551_51783552delCA ENST00000557518.1 - 0 257 ATTTGGGATGcacacacacaca 0.356 2 4 --- --- --- --- SNORA11 0 broad.mit.edu 37 14 70270922 70270922 + RNA DEL T T - rs11429169 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr14:70270922delT ENST00000408133.1 - 0 126 ATGGATTCTCTTTTTTTTTTT 0.353 10 52 --- --- --- --- CTD-2341M24.1 0 broad.mit.edu 37 14 86538163 86538164 + RNA INS - - GAGAGAGAGAAA rs140881841 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr14:86538163_86538164insGAGAGAGAGAAA ENST00000553668.1 + 0 182 aggaagaaagggagagagagaa 0.416 8 57 --- --- --- --- RP11-253M7.1 0 broad.mit.edu 37 15 69701563 69701564 + RNA DEL AC AC - rs62007330 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:69701563_69701564delAC ENST00000558617.1 - 0 878 RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558107.1_RNA caactccccaacacacacacac 0.356 3 5 --- --- --- --- RP11-255M2.2 0 broad.mit.edu 37 15 95641967 95641968 + RNA DEL AC AC - rs72171488 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr15:95641967_95641968delAC ENST00000554787.1 - 0 266 gcaaaactgtacacacacacac 0.307 2 4 --- --- --- --- PRRT2 112476 broad.mit.edu 37 16 29825016 29825016 + Frame_Shift_Del DEL C C - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:29825016delC ENST00000300797.6 + 2 815 c.641delC c.(640-642)gcfs p.A214fs AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Frame_Shift_Del_p.A214fs|PRRT2_ENST00000567551.1_3'UTR|PRRT2_ENST00000358758.7_Frame_Shift_Del_p.A214fs Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 214 Pro-rich. A -> AP (in Ref. 3; CAD38881). response to biotic stimulus integral to membrane p.R217fs*12(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 8 GCCAATGGGGCCCCCCCCCGA 0.652 9 143 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 16 189 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64519146 64519147 + RNA DEL AC AC - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:64519146_64519147delAC ENST00000564046.1 + 0 354 GCGTGCATGGacacacacacac 0.396 2 4 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183626 + RNA DEL TT TT - rs11296516 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr16:81183625_81183626delTT ENST00000525539.1 - 0 4553 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttt 0.465 8 10 --- --- --- --- HCRT 3060 broad.mit.edu 37 17 40336501 40336503 + In_Frame_Del DEL GCA GCA - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr17:40336501_40336503delGCA ENST00000293330.1 - 2 151_153 c.65_67delTGC c.(64-69)ccg>c p.LP22del NM_001524.1 NP_001515.1 O43612 OREX_HUMAN hypocretin (orexin) neuropeptide precursor 22 neuropeptide signaling pathway cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle p.L22delL(1) breast(1)|central_nervous_system(1) 2 all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069) BRCA - Breast invasive adenocarcinoma(366;0.124) AGCGCGGgcggcagcagcagcag 0.704 7 112 --- --- --- --- RP11-408H20.2 0 broad.mit.edu 37 18 28696726 28696727 + RNA INS - - AAGG rs71175759 TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr18:28696726_28696727insAAGG ENST00000581836.1 + 0 208 aggaaggaaggaagaaagaaag 0.426 2 4 --- --- --- --- WBP7 0 broad.mit.edu 37 19 36214865 36214866 + Frame_Shift_Ins INS - - G rs34014681 by1000genomes TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:36214865_36214866insG ENST00000420124.1 + 8 3291_3292 c.3291_3292insG c.(3289-3294)ccggggfs p.PG1097fs WBP7_ENST00000222270.7_Frame_Shift_Ins_p.PG1097fs|KMT2B_ENST00000607650.1_RNA ACTCGGAGCCCGGGGGCCCCCC 0.574 13 374 --- --- --- --- ZNF428 126299 broad.mit.edu 37 19 44111875 44111877 + In_Frame_Del DEL TCC TCC - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:44111875_44111877delTCC ENST00000300811.3 - 3 905_907 c.459_461delGGA c.(457-462)gaa>ga p.EE157del SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron NM_182498.3 NP_872304.2 Q96B54 ZN428_HUMAN zinc finger protein 428 157 Glu-rich. intracellular zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 5 Prostate(69;0.0153) ctcctcctcttcctcctcctcct 0.660 7 189 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935504 47935507 + Frame_Shift_Del DEL GCGA GCGA - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:47935504_47935507delGCGA ENST00000236877.6 - 9 2701_2704 c.2306_2309delTCGC c.(2305-2310)ccfs p.LA769fs SLC8A2_ENST00000542837.1_Frame_Shift_Del_p.LA525fs|SLC8A2_ENST00000539381.1_Frame_Shift_Del_p.LA232fs NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 769 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GAAGTGGGAGGCGAGGTCCCCAAT 0.623 97 337 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 8 724 --- --- --- --- RP11-545D19.1 0 broad.mit.edu 37 X 34332105 34332112 + RNA DEL GTGTGTGT GTGTGTGT - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chrX:34332105_34332112delGTGTGTGT ENST00000412652.1 - 0 357 TGACTGAGTGgtgtgtgtgtgtgtgtgt 0.385 3 4 --- --- --- --- RBM10 8241 broad.mit.edu 37 X 47030561 47030563 + In_Frame_Del DEL GGA GGA - TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chrX:47030561_47030563delGGA ENST00000377604.3 + 4 1078_1080 c.336_338delGGA c.(334-339)ggg>gg p.GE112del RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 112 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CCGAGCAAGGggaggaggaggag 0.660 7 97 --- --- --- --- ZMYM3 9203 broad.mit.edu 37 X 70472554 70472555 + Frame_Shift_Ins INS - - A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 Untested Somatic Phase_I WXS none Illumina GAIIx d8a9adaa-884a-4fe3-addf-a9e689c276d0 00935704-940c-4cb0-a0f6-03682d465c6a g.chrX:70472554_70472555insA ENST00000373998.1 - 2 1248_1249 c.551_552insT c.(550-552)ccafs p.P184fs ZMYM3_ENST00000373978.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.P184fs|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.P184fs NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 184 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TTGGGCTCTGTGGCTGCCCTTG 0.604 114 137 --- --- --- ---