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 THAP11 57215 broad.mit.edu 37 16 67877191 67877191 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:67877191C>T ENST00000303596.1 + 1 979 c.734C>T c.(733-735)tCg>tTg p.S245L CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) TCCGACCATTCGTACTCCTTG 0.607000 84 807 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92970781 92970781 + Missense_Mutation SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:92970781G>C ENST00000544910.1 + 24 2231 c.2011G>C c.(2011-2013)Gaa>Caa p.E671Q CCDC132_ENST00000535481.1_Missense_Mutation_p.E421Q|CCDC132_ENST00000541136.1_Missense_Mutation_p.E512Q|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.E701Q NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 701 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AGCAGCAGAAGAAAGAAAGGA 0.448000 11 45 0 0 1 0 0 EGLN2 112398 broad.mit.edu 37 19 41306707 41306707 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:41306707G>A ENST00000593726.1 + 1 1258 c.230G>A c.(229-231)cGg>cAg p.R77Q RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R77Q|EGLN2_ENST00000303961.4_Missense_Mutation_p.R77Q Q96KS0 EGLN2_HUMAN egl-9 family hypoxia-inducible factor 2 77 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) AGCCCTCTTCGGGACGGTTTT 0.672000 13 42 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020908 156020908 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:156020908G>A ENST00000368309.3 - 3 563 c.471C>T c.(469-471)tcC>tcT p.S157S UBQLN4_ENST00000472638.1_5'UTR NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 157 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TACAGAGTATGGACGCAGTAG 0.612000 5 51 0 0 1 0 0 WRNIP1 56897 broad.mit.edu 37 6 2785457 2785457 + Missense_Mutation SNP C C G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:2785457C>G ENST00000380769.4 + 7 1510 c.1279C>G c.(1279-1281)Cag>Gag p.Q427E WRNIP1_ENST00000380764.1_Missense_Mutation_p.Q263E|WRNIP1_ENST00000380773.4_Missense_Mutation_p.Q647E|WRNIP1_ENST00000380771.4_Missense_Mutation_p.Q622E Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 647 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) GCCTGTGGATCAGGAGTACCT 0.542000 37 143 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27441071 27441071 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr17:27441071A>G ENST00000527372.1 - 15 2736 c.2556T>C c.(2554-2556)gaT>gaC p.D852D MYO18A_ENST00000531253.1_Silent_p.D852D|MYO18A_ENST00000354329.4_Silent_p.D852D|MYO18A_ENST00000533112.1_Silent_p.D852D NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 852 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCACAGAGTCATCCGTCGGGG 0.612000 8 15 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525441 248525441 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:248525441G>A ENST00000366475.1 + 1 559 c.559G>A c.(559-561)Gat>Aat p.D187N NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGCTCAGTGGATGGCTTCAC 0.532000 47 141 0 0 1 0 0 LYG1 129530 broad.mit.edu 37 2 99912095 99912095 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:99912095C>T ENST00000409448.1 - 4 355 c.39G>A c.(37-39)ctG>ctA p.L13L LYG1_ENST00000308528.4_Silent_p.L13L Q8N1E2 LYG1_HUMAN lysozyme G-like 1 13 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 ACTCACCCATCAGGGCAAGGA 0.428000 36 100 0 0 1 0 0 ZNF525 170958 broad.mit.edu 37 19 53884325 53884325 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:53884325G>A ENST00000467003.1 + 4 586 c.385G>A c.(385-387)Gag>Aag p.E129K ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.E165K|ZNF525_ENST00000593918.1_Intron zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TAATCAAGTGGAGAAGTCTAT 0.373000 35 123 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52777487 52777487 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:52777487G>A ENST00000257951.3 - 2 708 c.642C>T c.(640-642)ttC>ttT p.F214F RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 214 Coil 1B.|Rod. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGTAGCTCTCGAAGAGTGGCT 0.547000 17 52 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450437 158450437 + Missense_Mutation SNP C C T rs149832721 byFrequency TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:158450437C>T ENST00000368152.1 + 1 770 c.770C>T c.(769-771)gCg>gTg p.A257V RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) AGACGGAAAGCGTTTTCCACC 0.458000 16 43 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113704128 113704128 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:113704128C>T ENST00000550785.1 + 5 766 c.597C>T c.(595-597)gcC>gcT p.A199A TPCN1_ENST00000541517.1_Silent_p.A199A|TPCN1_ENST00000392569.4_Silent_p.A59A|TPCN1_ENST00000335509.6_Silent_p.A127A NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 127 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TGTGCGAGGCCCCCGCCGTCC 0.652000 104 392 0 0 1 0 0 LSG1 55341 broad.mit.edu 37 3 194365441 194365441 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:194365441C>T ENST00000265245.5 - 13 1972 c.1658G>A c.(1657-1659)aGa>aAa p.R553K AC046143.3_ENST00000447139.1_RNA NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 553 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) TACAGGATCTCTTCCAGGAGG 0.448000 8 36 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80747683 80747683 + Splice_Site SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:80747683G>A ENST00000509894.1 + 18 2875 c.e18-1 TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000369798.2_Splice_Site P33981 TTK_HUMAN TTK protein kinase mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTGGCATATAGGTTGGCACAG 0.269000 7 12 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132198210 132198210 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:132198210C>T ENST00000360971.2 + 18 1822 c.1802C>T c.(1801-1803)aCg>aTg p.T601M NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 601 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCTGTTTATACGCCAAAGCAT 0.448000 11 17 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 153 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322472 31322472 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr17:31322472G>A ENST00000269053.3 + 2 150 c.80G>A c.(79-81)cGg>cAg p.R27Q SPACA3_ENST00000580599.1_5'UTR|SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR NM_173847.3 NP_776246.1 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 27 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) AGTGGACCACGGAGGCTGGTG 0.627000 24 109 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54167098 54167098 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:54167098G>A ENST00000404125.1 - 4 595 c.540C>T c.(538-540)tgC>tgT p.C180C PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CTTACGGTCGGCAGCTTTTCA 0.343000 4 160 0 0 1 0 0 CBFA2T3 863 broad.mit.edu 37 16 88958761 88958761 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:88958761G>A ENST00000268679.4 - 4 908 c.512C>T c.(511-513)gCc>gTc p.A171V CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A85V|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A146V|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A95V|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A85V NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 171 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) GAGCTGCCGGGCCCCGCAGGC 0.647000 T RUNX1 AML 7 27 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123470829 123470829 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:123470829G>A ENST00000280562.5 - 25 3982 c.3777C>T c.(3775-3777)cgC>cgT p.R1259R PITPNM2_ENST00000320201.4_Silent_p.R1265R|PITPNM2_ENST00000542749.1_Silent_p.R1265R|PITPNM2_ENST00000392428.1_Silent_p.R986R Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGGCCGTGTTGCGAGCGGGCC 0.701000 3 18 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173996910 173996910 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:173996910G>A ENST00000457714.1 + 6 1548 c.1119G>A c.(1117-1119)atG>atA p.M373I NLGN1_ENST00000361589.4_Missense_Mutation_p.M373I|NLGN1_ENST00000401917.3_Missense_Mutation_p.M413I|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.M373I NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 390 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGATATTGATGGAGCAAGGAG 0.393000 69 140 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271816 22271816 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:22271816A>G ENST00000594947.1 + 4 1408 c.1264A>G c.(1264-1266)Aag>Gag p.K422E NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) TACTCAGCATAAGATAATTCA 0.373000 13 29 0 0 1 0 0 KLC2 64837 broad.mit.edu 37 11 66029374 66029374 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:66029374C>T ENST00000417856.1 + 3 633 c.390C>T c.(388-390)ctC>ctT p.L130L KLC2_ENST00000421552.1_Intron|KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000316924.5_Silent_p.L130L|KLC2_ENST00000394067.2_Silent_p.L130L|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394078.1_Silent_p.L130L NM_001134775.1 NP_001128247.1 Q9H0B6 KLC2_HUMAN kinesin light chain 2 130 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TGGCCCAGCTCGAGGAGGAGA 0.627000 22 59 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272427 52272427 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:52272427G>A ENST00000598776.1 + 2 1288 c.516G>A c.(514-516)ggG>ggA p.G172G FPR2_ENST00000340023.6_Silent_p.G172G|FPR2_ENST00000598953.1_Silent_p.G172G NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 172 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 TTCCAAATGGGGACACATACT 0.498000 33 83 0 0 1 0 0 C1QL4 338761 broad.mit.edu 37 12 49729943 49729943 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:49729943G>A ENST00000334221.3 - 1 1028 c.318C>T c.(316-318)taC>taT p.Y106Y NM_001008223.1 NP_001008224.1 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 106 C1q. collagen large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 TGCGAGGCACGTAGCCGGCAG 0.731000 6 26 0 0 1 0 0 CWF19L1 55280 broad.mit.edu 37 10 101997810 101997810 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:101997810C>T ENST00000354105.4 - 11 1309 c.1223G>A c.(1222-1224)aGa>aAa p.R408K CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R163K NM_018294.4 NP_060764.3 Q69YN2 C19L1_HUMAN CWF19-like 1, cell cycle control (S. pombe) 408 catalytic activity p.R408I(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2) 17 Colorectal(252;0.117) Epithelial(162;3.78e-10)|all cancers(201;3.1e-08) CTTATAATTTCTCTCAAATAC 0.438000 23 97 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52838906 52838906 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:52838906C>T ENST00000371568.3 - 17 2751 c.2533G>A c.(2533-2535)Gtg>Atg p.V845M ORC1_ENST00000371566.1_Missense_Mutation_p.V845M NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 845 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTGAGCCGCACCCGAAGGAGC 0.562000 6 253 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2818994 2818994 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr20:2818994C>T ENST00000360652.2 - 6 1227 c.725G>A c.(724-726)cGt>cAt p.R242H PCED1A_ENST00000356872.3_Missense_Mutation_p.R191H NM_022760.4 NP_073597.2 PC-esterase domain containing 1A ATCCCGATGACGGTGCTGTAC 0.597000 61 53 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99912180 99912180 + Silent SNP G G A rs858635 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:99912180G>A ENST00000332397.6 + 6 1192 c.1008G>A c.(1006-1008)ccG>ccA p.P336P SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 336 p.P336P(10) endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 CCAGCCCCCCGCGTAGGTCCC 0.577000 3 28 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44919402 44919402 + Splice_Site SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chrX:44919402G>A ENST00000377967.4 + 13 1370 c.e13+1 KDM6A_ENST00000382899.4_Intron|KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000536777.1_Intron NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 AGCACAGCAGGTGAGAAGTTG 0.458000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 6 14 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26213118 26213118 + Silent SNP T T A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chrX:26213118T>A ENST00000379034.1 + 2 1304 c.1155T>A c.(1153-1155)ggT>ggA p.G385G NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 385 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCAGTCCCGGTTTATACCCAC 0.517000 89 39 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165340 139165340 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr8:139165340G>T ENST00000395297.1 - 13 1548 c.1378C>A c.(1378-1380)Ctt>Att p.L460I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 460 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GACAAGACAAGGTCTTCCCTA 0.373000 HNSCC(54;0.14) 27 27 1.42536e-11 1.54045e-11 1 1 0 WDFY3 23001 broad.mit.edu 37 4 85701312 85701312 + Silent SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:85701312G>C ENST00000322366.6 - 26 4721 c.4314C>G c.(4312-4314)gtC>gtG p.V1438V WDFY3_ENST00000295888.4_Silent_p.V1438V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1438 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGTTACTCTTGACCACACAAA 0.502000 33 183 0 0 1 0 0 GLCCI1 113263 broad.mit.edu 37 7 8110747 8110747 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:8110747A>G ENST00000223145.5 + 6 1720 c.1163A>G c.(1162-1164)tAt>tGt p.Y388C NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 388 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GATTTGCTCTATGATCGTGAT 0.448000 19 91 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54666459 54666459 + Silent SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:54666459G>C ENST00000376591.4 - 10 1598 c.1467C>G c.(1465-1467)ctC>ctG p.L489L TMC4_ENST00000301187.4_Silent_p.L483L|TMC4_ENST00000416963.1_Silent_p.L71L NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 489 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) GCAGATCAAAGAGCAGAAGTT 0.572000 10 48 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45630089 45630089 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr20:45630089G>A ENST00000327619.5 + 3 506 c.132G>A c.(130-132)ctG>ctA p.L44L EYA2_ENST00000357410.3_Silent_p.L44L|EYA2_ENST00000317304.6_Silent_p.L44L NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 44 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CGGCCCCCCTGAGAGTGTCCC 0.493000 24 87 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32012859 32012859 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:32012859G>T ENST00000375244.3 - 32 11052 c.10851C>A c.(10849-10851)agC>agA p.S3617R TNXB_ENST00000375247.2_Missense_Mutation_p.S3615R|TNXB_ENST00000451343.1_Missense_Mutation_p.S46R P22105 TENX_HUMAN tenascin XB 3662 Fibronectin type-III 28. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGTAGGGGGTGCTGGGCTCCA 0.642000 9 56 1.76689e-08 1.87463e-08 1 1 0 PCDH15 65217 broad.mit.edu 37 10 55569261 55569261 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:55569261G>A ENST00000395445.1 - 36 4943 c.4549C>T c.(4549-4551)Cct>Tct p.P1517S PCDH15_ENST00000409834.1_Silent_p.S1144S|PCDH15_ENST00000395440.1_Missense_Mutation_p.P451S|PCDH15_ENST00000395438.1_Silent_p.S1533S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P382S|PCDH15_ENST00000395446.1_Missense_Mutation_p.P713S NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCCTCACTAGGCTCTCTAATT 0.388000 HNSCC(58;0.16) 67 117 0 0 1 0 0 CALY 50632 broad.mit.edu 37 10 135139539 135139539 + Missense_Mutation SNP C C A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:135139539C>A ENST00000252939.4 - 5 539 c.446G>T c.(445-447)gGg>gTg p.G149V CALY_ENST00000467611.1_5'UTR|CALY_ENST00000368558.1_3'UTR|ZNF511_ENST00000368554.4_Intron NM_015722.3 NP_056537.1 Q9NYX4 CALY_HUMAN calcyon neuron-specific vesicular protein 149 clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis cytoplasmic vesicle membrane|integral to plasma membrane clathrin light chain binding|dopamine receptor binding kidney(1)|lung(2) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06) Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831) CGGGTAGGCCCCGATGGCCGC 0.721000 9 14 1.58986e-06 1.67658e-06 1 1 0 SLC25A38 54977 broad.mit.edu 37 3 39437967 39437967 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:39437967A>G ENST00000273158.4 + 7 1248 c.871A>G c.(871-873)Acg>Gcg p.T291A NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 291 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AATGGCGTGGACGGTGTATGA 0.532000 90 152 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766761 57766761 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr20:57766761G>A ENST00000371030.2 + 1 687 c.687G>A c.(685-687)agG>agA p.R229R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 229 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CAGAGGGCAGGGGCGAGAGCA 0.682000 64 76 0 0 1 0 0 KCNK15 60598 broad.mit.edu 37 20 43378795 43378795 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr20:43378795G>A ENST00000372861.3 + 2 440 c.309G>A c.(307-309)acG>acA p.T103T NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 103 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CGCCGGGTACGGACTCCGGCA 0.677000 21 56 0 0 1 0 0 HCG9 10255 broad.mit.edu 37 6 29943099 29943099 + RNA SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:29943099G>A ENST00000376800.3 + 0 211 GGCCCGCCCTGGAGCTGAGAA 0.647000 11 14 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553912 140553912 + Missense_Mutation SNP C C A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr5:140553912C>A ENST00000231137.3 + 1 1670 c.1496C>A c.(1495-1497)cCc>cAc p.P499H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 499 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCACCTGCCCCTCGCCTCC 0.682000 114 91 1.81606e-51 2.05191e-51 1 1 0 RBM25 58517 broad.mit.edu 37 14 73578313 73578313 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr14:73578313G>A ENST00000261973.7 + 16 2380 c.2095G>A c.(2095-2097)Gag>Aag p.E699K RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.E699K NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 699 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TAACAAATTTGAGGATGAAGA 0.398000 26 58 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9324416 9324416 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:9324416C>T ENST00000377403.2 + 5 2166 c.1864C>T c.(1864-1866)Cgc>Tgc p.R622C H6PD_ENST00000602477.1_Missense_Mutation_p.R633C NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 622 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGTTGACGAGCGCTGCGTCCC 0.677000 4 79 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119042820 119042820 + Missense_Mutation SNP T T G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:119042820T>G ENST00000334464.5 - 5 3663 c.3424A>C c.(3424-3426)Agc>Cgc p.S1142R NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 1142 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCTGATATGCTGCTGAATGGC 0.388000 17 64 0 0 1 0 0 PTPN11 5781 broad.mit.edu 37 12 112915503 112915503 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:112915503T>C ENST00000351677.2 + 8 1100 c.902T>C c.(901-903)gTt>gCt p.V301A PTPN11_ENST00000392597.1_Missense_Mutation_p.V301A NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 301 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 AATGAGCCTGTTTCAGATTAC 0.388000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 13 47 0 0 1 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14183662 14183662 + RNA SNP A A T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr18:14183662A>T ENST00000581935.1 + 0 513 lung(3) 3 ACTGCTCTACATTTGGCCTGT 0.378000 10 226 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3670740 3670740 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:3670740G>A ENST00000294600.2 + 2 461 c.377G>A c.(376-378)aGg>aAg p.R126K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 126 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GAACTTCGAAGGGTCTTCCCC 0.597000 54 283 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155757608 155757608 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:155757608C>T ENST00000159060.2 - 7 844 c.742G>A c.(742-744)Gaa>Aaa p.E248K NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 248 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) GTCTGCCATTCTGCATAGCGG 0.458000 26 57 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718512 103718512 + Missense_Mutation SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr13:103718512G>C ENST00000245312.3 - 1 684 c.88C>G c.(88-90)Cta>Gta p.L30V NM_000452.2 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 30 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACCACACTTAGGATGTTATTG 0.468000 39 113 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42187803 42187803 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:42187803T>C ENST00000006724.3 - 3 820 c.619A>G c.(619-621)Aca>Gca p.T207A CEACAM7_ENST00000401731.1_Missense_Mutation_p.T207A|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 207 Ig-like C2-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TCATTCTTTGTGGCGCTGAGT 0.532000 69 171 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245775210 245775210 + Missense_Mutation SNP G G A rs149649213 by1000genomes TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:245775210G>A ENST00000366518.4 + 6 991 c.887G>A c.(886-888)cGc>cAc p.R296H KIF26B_ENST00000407071.2_Missense_Mutation_p.R677H Q2KJY2 KI26B_HUMAN kinesin family member 26B 677 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GACGACCACCGCAACTCACAC 0.607000 15 44 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164739119 164739119 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:164739119G>A ENST00000264382.3 - 27 3214 c.3152C>T c.(3151-3153)cCa>cTa p.P1051L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1051 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGGGGTGGTTGGAATGTTTAA 0.378000 HNSCC(35;0.089) 73 151 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41560068 41560068 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr22:41560068G>T ENST00000263253.7 + 22 4959 c.3740G>T c.(3739-3741)tGt>tTt p.C1247F NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1247 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTTGTTGAATGTACAGAGTGC 0.413000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 57 63 2.25088e-17 2.49461e-17 1 1 0 OR52N5 390075 broad.mit.edu 37 11 5799436 5799436 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:5799436G>A ENST00000317093.2 - 1 461 c.429C>T c.(427-429)acC>acT p.T143T TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGGTGAGTGTGGTAGCATAAC 0.498000 44 13 0 0 1 0 0 C7orf43 55262 broad.mit.edu 37 7 99753296 99753296 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:99753296C>T ENST00000316937.3 - 9 1578 c.1393G>A c.(1393-1395)Gag>Aag p.E465K C7orf43_ENST00000457641.1_Missense_Mutation_p.E196K|C7orf43_ENST00000394035.2_Missense_Mutation_p.E41K|C7orf43_ENST00000419841.1_Missense_Mutation_p.E233K NM_018275.3 NP_060745.3 Q8WVR3 CG043_HUMAN chromosome 7 open reading frame 43 465 breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1) 10 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCCCACCTCGAAGAGCCCC 0.602000 68 159 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249212530 249212530 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:249212530G>T ENST00000355360.4 + 3 1264 c.994G>T c.(994-996)Gcc>Tcc p.A332S PGBD2_ENST00000539153.1_Missense_Mutation_p.A580S|PGBD2_ENST00000329291.5_Missense_Mutation_p.A583S NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 583 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGGTGTCCATGCCAAATGCTT 0.493000 17 76 3.52763e-06 3.69764e-06 1 1 0 FGA 2243 broad.mit.edu 37 4 155505608 155505608 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:155505608A>G ENST00000302053.3 - 6 2347 c.2269T>C c.(2269-2271)Tcc>Ccc p.S757P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 757 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTCATAGGAGGAGACTTGG 0.517000 87 125 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647158 57647158 + Missense_Mutation SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:57647158G>C ENST00000269834.1 - 5 932 c.547C>G c.(547-549)Caa>Gaa p.Q183E NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGTGACTTTGAAGGCGTGAC 0.403000 31 121 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51968530 51968530 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:51968530C>T ENST00000232888.6 - 13 1291 c.1218G>A c.(1216-1218)ggG>ggA p.G406G NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 406 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) GGAAGCCTTCCCCACACTGCC 0.642000 38 81 0 0 1 0 0 FBXL8 55336 broad.mit.edu 37 16 67197480 67197480 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:67197480C>T ENST00000258200.3 + 3 1059 c.882C>T c.(880-882)ttC>ttT p.F294F HSF4_ENST00000264009.8_5'UTR|FBXL8_ENST00000519917.1_Silent_p.F294F|HSF4_ENST00000421453.1_5'UTR Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 294 protein binding endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) CAGTGCGCTTCGCAGCACACC 0.736000 63 16 0 0 1 0 0 ELMOD2 255520 broad.mit.edu 37 4 141463727 141463727 + Splice_Site SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:141463727G>A ENST00000323570.3 + 7 665 c.e7-1 NM_153702.3 NP_714913.1 Q8IZ81 ELMD2_HUMAN ELMO/CED-12 domain containing 2 phagocytosis|regulation of defense response to virus|response to virus cytoskeleton GTPase activator activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 all_hematologic(180;0.162) AAACTTTTTAGGTATTTCAGT 0.318000 9 16 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2928653 2928653 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr18:2928653T>C ENST00000261596.4 - 11 1794 c.1556A>G c.(1555-1557)tAt>tGt p.Y519C NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 519 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AGCCCAGTTATAGTAACTGTG 0.493000 12 40 0 0 1 0 0 SLC39A1 27173 broad.mit.edu 37 1 153932653 153932653 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:153932653G>A ENST00000368623.3 - 3 1655 c.896C>T c.(895-897)tCt>tTt p.S299F SLC39A1_ENST00000310483.6_Missense_Mutation_p.S299F|SLC39A1_ENST00000356205.4_Missense_Mutation_p.S299F|SLC39A1_ENST00000368621.1_Missense_Mutation_p.S299F|SLC39A1_ENST00000537590.1_Missense_Mutation_p.S197F Q9NY26 S39A1_HUMAN solute carrier family 39 (zinc transporter), member 1 299 endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane zinc ion transmembrane transporter activity kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1) 12 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Colorectal(1306;0.019) CCTTTGCTCAGAACTGGCCAG 0.567000 28 257 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48953769 48953769 + Nonsense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr13:48953769G>T ENST00000267163.4 + 14 1510 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 458 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGAGTAATGGAATCCATGCT 0.393000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 9 8 6.40141e-05 6.63003e-05 1 1 0 CFLAR 8837 broad.mit.edu 37 2 202014558 202014558 + Splice_Site SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:202014558G>A ENST00000309955.3 + 8 1308 c.793G>A c.(793-795)Gag>Aag p.E265K CFLAR_ENST00000423241.2_Splice_Site_p.E265K|CFLAR_ENST00000340870.5_Splice_Site_p.E265K|CFLAR-AS1_ENST00000598453.1_RNA|CFLAR-AS1_ENST00000598509.1_RNA|CFLAR_ENST00000355558.4_Splice_Site_p.E265K|CFLAR-AS1_ENST00000415011.2_RNA|CFLAR_ENST00000341582.6_Splice_Site_p.E230K|CFLAR-AS1_ENST00000595372.1_RNA|CFLAR_ENST00000457277.1_Splice_Site_p.E265K|CFLAR_ENST00000443227.1_Splice_Site_p.E169K|CFLAR_ENST00000479953.2_Splice_Site_p.E169K|CFLAR_ENST00000342795.5_Splice_Site_p.G265S|CFLAR-AS1_ENST00000594911.1_RNA NM_001202515.1|NM_003879.5 NP_001189444.1|NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 CAATGAGACAGGTAGGTGTGG 0.478000 14 18 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38888526 38888526 + Missense_Mutation SNP G G T rs143537709 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:38888526G>T ENST00000450244.1 - 26 5233 c.5035C>A c.(5035-5037)Cgc>Agc p.R1679S SCN11A_ENST00000456224.3_Missense_Mutation_p.R1641S|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1679S Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1679 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1679C(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CAGTGGAGGCGATCTTCACTC 0.463000 19 114 1.67942e-08 1.79275e-08 1 1 0 SMG5 23381 broad.mit.edu 37 1 156228953 156228953 + Splice_Site SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:156228953G>A ENST00000361813.5 - 16 2429 c.2285C>T c.(2284-2286)tCa>tTa p.S762L SMG5_ENST00000368267.5_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 762 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GCGCACCACTGACTGTGGGGA 0.632000 24 61 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72423620 72423620 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:72423620C>T ENST00000393605.3 - 1 576 c.21G>A c.(19-21)cgG>cgA p.R7R ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 0 SAM. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCTCCTGCCCCCGAGACCCAC 0.692000 148 98 0 0 1 0 0 SERPINB11 89778 broad.mit.edu 37 18 61390746 61390746 + RNA SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr18:61390746G>A ENST00000544088.1 + 0 1354 SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) gcctcagtttgctcatctgca 0.448000 4 15 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67328014 67328014 + Missense_Mutation SNP C C G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:67328014C>G ENST00000304372.5 - 12 1706 c.1651G>C c.(1651-1653)Gct>Cct p.A551P NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 551 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) TTTCCCTTAGCCTTGTTCCAT 0.567000 544 186 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127255074 127255074 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:127255074C>T ENST00000341640.2 - 2 401 c.196G>A c.(196-198)Gga>Aga p.G66R PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 74 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GGCTTGCTTCCCCCAATGCCC 0.577000 61 54 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937838 178937838 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:178937838A>G ENST00000263967.3 + 13 2170 c.2013A>G c.(2011-2013)ttA>ttG p.L671L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 671 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTGGCATTTAAAGTAAGTCT 0.254000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 28 50 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813555 106813555 + Missense_Mutation SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr8:106813555G>C ENST00000407775.2 + 8 1495 c.1245G>C c.(1243-1245)ttG>ttC p.L415F ZFPM2_ENST00000520492.1_Missense_Mutation_p.L283F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L146F|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L283F|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 415 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CAGACTTATTGACCAGAAGCG 0.502000 60 39 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15284912 15284912 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:15284912C>T ENST00000263388.2 - 25 4778 c.4703G>A c.(4702-4704)cGg>cAg p.R1568Q NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1568 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCGACGGGCCCGGGGTTCGGA 0.677000 19 75 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67225948 67225948 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:67225948G>T ENST00000438189.2 + 6 787 c.443G>T c.(442-444)cGa>cTa p.R148L CABP4_ENST00000325656.5_Missense_Mutation_p.R253L P57796 CABP4_HUMAN calcium binding protein 4 253 EF-hand 1. visual perception cytoplasm|extracellular region|terminal button calcium ion binding central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GAGATGCTCCGAGAAGTGGAC 0.647000 27 73 1.2476e-16 1.37394e-16 1 1 0 VCAN 1462 broad.mit.edu 37 5 82832829 82832829 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr5:82832829G>A ENST00000265077.3 + 8 4572 c.4007G>A c.(4006-4008)cGa>cAa p.R1336Q VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R349Q|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1336 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.R1336L(1)|p.R1336Q(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTTCAGGTCGAATGAGTGAT 0.368000 16 16 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10432223 10432223 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:10432223G>A ENST00000293677.6 - 7 1377 c.1296C>T c.(1294-1296)ctC>ctT p.L432L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 415 Pro-rich. cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCAGCTCCCCGAGGAGGGGGT 0.672000 20 66 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189063602 189063602 + Missense_Mutation SNP C C T rs113311676 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:189063602C>T ENST00000332517.3 + 3 841 c.701C>T c.(700-702)tCc>tTc p.S234F RP11-366H4.3_ENST00000501322.2_RNA NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 234 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CAGATTGAGTCCTCAAGTCAA 0.408000 10 89 0 0 1 0 0 ACADS 35 broad.mit.edu 37 12 121176974 121176974 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:121176974A>G ENST00000242592.4 + 9 1212 c.1061A>G c.(1060-1062)gAg>gGg p.E354G ACADS_ENST00000411593.2_Missense_Mutation_p.E350G NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 354 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GCCGCCTCGGAGGCCGCGACC 0.667000 32 62 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170072776 170072776 + Missense_Mutation SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:170072776G>C ENST00000263816.3 - 35 6098 c.5813C>G c.(5812-5814)aCt>aGt p.T1938S NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1938 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCTCTTCCAGTGACTGCCCA 0.488000 34 59 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29038474 29038474 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr18:29038474C>T ENST00000257189.4 + 4 366 c.283C>T c.(283-285)Ccg>Tcg p.P95S NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 95 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATCGATCAGCCGCCTTTTGG 0.443000 35 35 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47201080 47201080 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:47201080T>C ENST00000539589.1 - 7 1003 c.661A>G c.(661-663)Atg>Gtg p.M221V PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 221 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 ATGTCCTCCATGTAGCGTGGA 0.577000 OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 69 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47155453 47155453 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:47155453C>T ENST00000409792.3 - 5 4670 c.4628G>A c.(4627-4629)cGg>cAg p.R1543Q NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1543 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCTCTGAAACCGTCTATTGGA 0.398000 """N, F, S, Mis""" clear cell renal carcinoma 41 72 0 0 1 0 0 TSEN2 80746 broad.mit.edu 37 3 12545187 12545187 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:12545187C>T ENST00000444864.1 + 5 1122 c.735C>T c.(733-735)ctC>ctT p.L245L TSEN2_ENST00000415684.1_Silent_p.L245L|TSEN2_ENST00000383797.5_Silent_p.L245L|TSEN2_ENST00000402228.3_Silent_p.L245L|TSEN2_ENST00000454502.2_Silent_p.L186L|TSEN2_ENST00000284995.6_Silent_p.L245L|TSEN2_ENST00000314571.7_Silent_p.L245L NM_001145395.1 NP_001138867.1 Q8NCE0 SEN2_HUMAN TSEN2 tRNA splicing endonuclease subunit 245 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7) 19 ACATCGGCCTCCTGCATCCTG 0.587000 12 44 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88870441 88870441 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:88870441G>A ENST00000303236.3 - 14 3237 c.2936C>T c.(2935-2937)gCc>gTc p.A979V EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A828V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 979 Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TGTGTGTCTGGCATAAGCTGG 0.488000 4 135 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29105666 29105666 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:29105666A>G ENST00000409850.1 - 14 1582 c.936T>C c.(934-936)agT>agC p.S312S CPVL_ENST00000265394.5_Silent_p.S312S|CPVL_ENST00000396276.3_Silent_p.S312S Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 312 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TATAGTAATTACTACATCCTG 0.363000 46 47 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262533 45262533 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr5:45262533G>A ENST00000303230.4 - 8 2220 c.2163C>T c.(2161-2163)tcC>tcT p.S721S NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 721 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AGGCGGTGGGGGAGGCATAGT 0.662000 29 39 0 0 1 0 0 TPGS2 25941 broad.mit.edu 37 18 34376984 34376984 + Silent SNP G G C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr18:34376984G>C ENST00000334295.4 - 7 1114 c.687C>G c.(685-687)acC>acG p.T229T TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000383056.3_Silent_p.T186T|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000593035.1_Silent_p.T194T NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 229 cytoplasm|microtubule TTGTGTTGTAGGTGATAGGTT 0.408000 38 131 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646981 57646981 + Nonsense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:57646981G>A ENST00000269834.1 - 5 1109 c.724C>T c.(724-726)Cag>Tag p.Q242* NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCATTTTCTGATGTTGAAAG 0.378000 26 84 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802802 24802802 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:24802802A>G ENST00000395799.3 + 6 2968 c.2839A>G c.(2839-2841)Aac>Gac p.N947D TNRC6A_ENST00000315183.7_Missense_Mutation_p.N947D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 947 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCCAGACTGGAACAAGCAACA 0.532000 36 46 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 26029163 26029163 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:26029163T>C ENST00000435504.4 - 4 480 c.187A>G c.(187-189)Aac>Gac p.N63D ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.N35D Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCTCTGGAGTTTGTGTGAAGC 0.388000 9 18 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155254513 155254513 + Silent SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:155254513C>T ENST00000357232.4 - 9 1349 c.1350G>A c.(1348-1350)acG>acA p.T450T DCHS2_ENST00000339452.1_Silent_p.T949T|DCHS2_ENST00000507542.1_5'UTR NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCGCCTGCACCGTGAGCACAA 0.622000 36 140 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38163977 38163977 + Nonsense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:38163977C>T ENST00000346219.3 + 36 5239 c.5218C>T c.(5218-5220)Cag>Tag p.Q1740* DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR NM_007337.2 NP_031363.2 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 0 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) AGCAGCTCTTCAGCACAAAGA 0.582000 22 41 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1018310 1018310 + Silent SNP C C T rs142743042 byFrequency TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:1018310C>T ENST00000398484.2 + 7 1510 c.930C>T c.(928-930)gaC>gaT p.D310D FGFRL1_ENST00000264748.6_Silent_p.D310D|FGFRL1_ENST00000504138.1_Silent_p.D310D|FGFRL1_ENST00000510644.1_Silent_p.D310D Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 310 Ig-like C2-type 3. 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) CCACGGGTGACGTGTGGTCGC 0.647000 41 73 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108724143 108724143 + Missense_Mutation SNP T T A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:108724143T>A ENST00000232603.5 - 19 1869 c.1787A>T c.(1786-1788)aAa>aTa p.K596I MORC1_ENST00000483760.1_Missense_Mutation_p.K575I NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 596 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 AAGCCTGATTTTCTGGGTTTT 0.358000 11 24 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72141432 72141432 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:72141432G>A ENST00000268482.3 + 20 3303 c.2794G>A c.(2794-2796)Gcc>Acc p.A932T DHX38_ENST00000536867.1_Missense_Mutation_p.A244T NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 932 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) GATCCTCGGGGCCCTGGACAA 0.602000 185 61 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397678 57397678 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:57397678C>T ENST00000300101.2 - 2 1109 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 CAGGGCATGGCCTTATTCTCC 0.527000 93 125 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51261251 51261251 + Missense_Mutation SNP A A T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:51261251A>T ENST00000395542.2 - 3 465 c.281T>A c.(280-282)cTt>cAt p.L94H COBL_ENST00000395540.2_Missense_Mutation_p.L94H|COBL_ENST00000441453.1_Missense_Mutation_p.L94H|COBL_ENST00000265136.7_Missense_Mutation_p.L94H O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 94 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GTGGTTCTGAAGGCAAAGTTC 0.428000 12 44 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779246 156779246 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:156779246C>T ENST00000392306.2 - 7 920 c.781G>A c.(781-783)Gcc>Acc p.A261T SH2D2A_ENST00000368199.3_Missense_Mutation_p.A251T|SH2D2A_ENST00000368198.3_Missense_Mutation_p.A233T NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 251 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGAGGTTTGGCGGGGATGGGA 0.637000 4 124 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128978 68128978 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr17:68128978G>A ENST00000585558.1 + 4 1243 c.855G>A c.(853-855)ccG>ccA p.P285P KCNJ16_ENST00000283936.1_Silent_p.P250P|KCNJ16_ENST00000586462.1_Silent_p.P289P|KCNJ16_ENST00000392671.1_Silent_p.P250P|KCNJ16_ENST00000392670.1_Silent_p.P250P|KCNJ16_ENST00000589377.1_Silent_p.P250P Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 250 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) TGGTCACCCCGGTAACTATTG 0.448000 40 122 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225669796 225669796 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:225669796G>T ENST00000409592.3 - 37 4192 c.4079C>A c.(4078-4080)tCc>tAc p.S1360Y DOCK10_ENST00000258390.7_Missense_Mutation_p.S1366Y Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1366 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) GAAGAAGTCGGACACCTCTGG 0.388000 5 15 0.000602214 0.000620031 1 1 0 CBWD1 55871 broad.mit.edu 37 9 121973 121973 + Missense_Mutation SNP A A T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr9:121973A>T ENST00000356521.4 - 14 1157 c.1069T>A c.(1069-1071)Ttg>Atg p.L357M CBWD1_ENST00000475411.1_5'UTR|CBWD1_ENST00000382447.4_Missense_Mutation_p.L338M|CBWD1_ENST00000377400.4_Missense_Mutation_p.L309M|CBWD1_ENST00000314367.10_Missense_Mutation_p.L321M NM_018491.3 NP_060961.3 Q9BRT8 CBWD1_HUMAN COBW domain containing 1 357 CobW C-terminal. ATP binding|protein binding kidney(1)|lung(2)|ovary(1)|skin(1) 5 all_lung(41;0.218) all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) AGGAGGACCAATCGATTTGTT 0.398000 45 55 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152420146 152420146 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:152420146G>T ENST00000397345.3 - 119 18869 c.18667C>A c.(18667-18669)Ctg>Atg p.L6223M NEB_ENST00000172853.10_Missense_Mutation_p.L4522M|NEB_ENST00000604864.1_Missense_Mutation_p.L6223M|NEB_ENST00000409198.1_Missense_Mutation_p.L4522M|NEB_ENST00000603639.1_Missense_Mutation_p.L6223M|NEB_ENST00000427231.2_Missense_Mutation_p.L6223M NM_001164508.1 NP_001157980 P20929 NEBU_HUMAN nebulin 6205 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGGAAATCCAGACAGTGAACC 0.448000 47 176 1.51926e-22 1.69455e-22 1 1 0 PNMA2 10687 broad.mit.edu 37 8 26365424 26365424 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr8:26365424C>T ENST00000522362.2 - 3 1742 c.848G>A c.(847-849)cGc>cAc p.R283H NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 283 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) agggatggcgcgtttctccac 0.597000 11 28 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45548231 45548231 + Silent SNP C C T rs146819096 byFrequency TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr21:45548231C>T ENST00000291576.7 + 19 2590 c.2463C>T c.(2461-2463)ctC>ctT p.L821L PWP2_ENST00000494310.1_3'UTR NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 821 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) TCTACCTCCTCTGGACTCACA 0.532000 10 239 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164393315 164393315 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:164393315G>A ENST00000280605.3 - 1 1732 c.1572C>T c.(1570-1572)gaC>gaT p.D524D NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 524 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGAAAGATGGTCAGCAGCTT 0.502000 42 189 0 0 1 0 0 LRIT1 26103 broad.mit.edu 37 10 85992290 85992290 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:85992290C>T ENST00000372105.3 - 4 1286 c.1265G>A c.(1264-1266)cGg>cAg p.R422Q NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 422 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GGGTCCTGCCCGCCCATCAGA 0.617000 29 117 0 0 1 0 0 FAM74A3 728495 broad.mit.edu 37 9 40715921 40715921 + RNA SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr9:40715921G>A ENST00000604146.1 + 0 260 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAGAAGACGTGGAAAGAGCTC 0.567000 12 15 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97917967 97917967 + RNA SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr10:97917967G>A ENST00000534948.1 + 0 2745 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GTTACCTGTTGAATCCTCCAA 0.358000 16 38 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20449544 20449544 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr7:20449544G>T ENST00000222573.4 + 14 2918 c.2234G>T c.(2233-2235)cGa>cTa p.R745L ITGB8_ENST00000537992.1_Missense_Mutation_p.R610L NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GTCACCTACCGACGTGAGAAG 0.323000 17 56 5.01169e-05 5.22177e-05 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32069697 32069697 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr5:32069697A>G ENST00000438447.1 + 15 2862 c.2474A>G c.(2473-2475)gAa>gGa p.E825G PDZD2_ENST00000282493.3_Missense_Mutation_p.E825G O15018 PDZD2_HUMAN PDZ domain containing 2 825 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GAAATGGATGAAGTCATAGCA 0.403000 5 38 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12318022 12318022 + Nonsense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:12318022G>A ENST00000261349.4 - 8 1829 c.1753C>T c.(1753-1755)Cga>Tga p.R585* LRP6_ENST00000543091.1_Nonsense_Mutation_p.R585* NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 585 Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CCAATCACTCGATGAACATTT 0.423000 23 62 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3716787 3716787 + Silent SNP T T A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:3716787T>A ENST00000324932.7 - 26 4479 c.4059A>T c.(4057-4059)tcA>tcT p.S1353S NUP98_ENST00000355260.3_Silent_p.S1353S|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000359171.4_Silent_p.S1353S NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1370 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GCTCCCGGACTGACTGGCTAC 0.478000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 83 54 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109753534 109753534 + Splice_Site SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:109753534A>G ENST00000399132.1 - 32 2241 c.e32+1 COL25A1_ENST00000399126.1_Splice_Site|COL25A1_ENST00000399127.1_Splice_Site NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GCAACAACTTACTCTTTCTCC 0.383000 14 57 0 0 1 0 0 ZFYVE19 84936 broad.mit.edu 37 15 41099847 41099847 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr15:41099847A>G ENST00000355341.4 + 1 561 c.60A>G c.(58-60)agA>agG p.R20R ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000336455.5_Intron|ZFYVE19_ENST00000564258.1_5'UTR|ZFYVE19_ENST00000299173.10_Silent_p.R20R NM_001077268.1 NP_001070736.1 Q96K21 ZFY19_HUMAN zinc finger, FYVE domain containing 19 20 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) GCTGCAGGAGAGCGTCCGGAT 0.692000 11 36 0 0 1 0 0 NCS1 23413 broad.mit.edu 37 9 132982045 132982045 + Silent SNP G G A rs11552457 byFrequency TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr9:132982045G>A ENST00000372398.3 + 4 356 c.270G>A c.(268-270)tcG>tcA p.S90S NCS1_ENST00000458469.1_Silent_p.S72S NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 90 EF-hand 2. S -> P (in Ref. 4; AAF01804). negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding p.S90S(1) large_intestine(1)|lung(4)|stomach(1) 6 AGGCGCTGTCGGTGACCTCAC 0.642000 16 51 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559642 228559642 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:228559642C>T ENST00000570156.2 + 105 24108 c.24034C>T c.(24034-24036)Cca>Tca p.P8012S OBSCN_ENST00000366707.4_Missense_Mutation_p.P4689S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P7055S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7055 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCAGTTGCCCCATGCCCTCC 0.687000 17 67 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21176199 21176199 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:21176199G>A ENST00000381541.3 + 6 770 c.705G>A c.(703-705)gtG>gtA p.V235V SLCO1B7_ENST00000554957.1_Silent_p.V235V|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.V188V AAATGTATGTGGATATCGGAT 0.368000 5 12 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220099664 220099664 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:220099664A>G ENST00000323348.5 + 10 1495 c.1321A>G c.(1321-1323)Agg>Ggg p.R441G ANKZF1_ENST00000409849.1_Missense_Mutation_p.R231G|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R441G NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 441 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGAGAAAAAGGAATAAGAA 0.517000 3 56 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13792275 13792275 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr5:13792275A>G ENST00000265104.4 - 50 8380 c.8276T>C c.(8275-8277)gTg>gCg p.V2759A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2759 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAATCTCTCACTTCTTCTGA 0.423000 Kartagener syndrome 22 42 0 0 1 0 0 TMEM260 54916 broad.mit.edu 37 14 57085377 57085377 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr14:57085377A>G ENST00000261556.6 + 10 1244 c.1122A>G c.(1120-1122)gcA>gcG p.A374A TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Silent_p.A374A NM_017799.3 NP_060269.3 transmembrane protein 260 GTTTGGCTGCAGTTGTGTCTG 0.468000 21 47 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128523 68128523 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr17:68128523C>T ENST00000585558.1 + 4 788 c.400C>T c.(400-402)Cat>Tat p.H134Y KCNJ16_ENST00000283936.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000586462.1_Missense_Mutation_p.H138Y|KCNJ16_ENST00000392671.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000392670.1_Missense_Mutation_p.H99Y|KCNJ16_ENST00000589377.1_Missense_Mutation_p.H99Y Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 99 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) AGCCTTTCATCATGGCGATCT 0.423000 11 47 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55497551 55497551 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:55497551G>A ENST00000543010.1 + 8 2377 c.2234G>A c.(2233-2235)cGg>cAg p.R745Q NLRP2_ENST00000263437.6_Missense_Mutation_p.R742Q|NLRP2_ENST00000537859.1_Missense_Mutation_p.R723Q|NLRP2_ENST00000339757.7_Missense_Mutation_p.R723Q|NLRP2_ENST00000448584.2_Missense_Mutation_p.R745Q|NLRP2_ENST00000427260.2_Missense_Mutation_p.R722Q|NLRP2_ENST00000391721.4_Missense_Mutation_p.R721Q|NLRP2_ENST00000538819.1_Missense_Mutation_p.R721Q NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 745 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GATGCTCATCGGAACCTCTGC 0.448000 13 42 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51064427 51064427 + Silent SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr22:51064427G>T ENST00000547307.1 - 6 1443 c.1038C>A c.(1036-1038)gcC>gcA p.A346A ARSA_ENST00000395619.3_Silent_p.A348A|ARSA_ENST00000453344.2_Silent_p.A262A|ARSA_ENST00000356098.5_Silent_p.A348A|ARSA_ENST00000216124.5_Silent_p.A348A|ARSA_ENST00000547805.1_Silent_p.A346A|ARSA_ENST00000395621.3_Silent_p.A348A P15289 ARSA_HUMAN arylsulfatase A 346 lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) TGGGCAGTGGGGCCCCAGCCA 0.677000 3 13 0.004672 0.00475396 1 1 0 PLCH1 23007 broad.mit.edu 37 3 155199507 155199507 + Silent SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:155199507A>G ENST00000460012.1 - 23 4575 c.4218T>C c.(4216-4218)caT>caC p.H1406H PLCH1_ENST00000334686.6_Silent_p.H1406H|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.H1444H|PLCH1_ENST00000414191.1_Silent_p.H1406H|PLCH1_ENST00000447496.2_3'UTR Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1444 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGAAATGATTATGCACAAAGC 0.438000 29 92 0 0 1 0 0 SPCS3 60559 broad.mit.edu 37 4 177248364 177248364 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:177248364C>T ENST00000503362.1 + 4 459 c.346C>T c.(346-348)Ccg>Tcg p.P116S SPCS3_ENST00000507001.1_3'UTR NM_021928.3 NP_068747.1 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 homolog (S. cerevisiae) 116 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity ovary(2) 2 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) AGGTGATAATCCGAAGCTGCT 0.313000 3 10 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713407 142713407 + RNA SNP C C T rs142431664 by1000genomes TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:142713407C>T ENST00000610091.1 - 0 2251 CAGTAAGAAACTCATTCTTAT 0.318000 4 35 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10163264 10163264 + RNA SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:10163264G>A ENST00000495140.1 + 0 1523 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 ACCCGACACGGAGGCGGAAGT 0.562000 16 78 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79635503 79635503 + Missense_Mutation SNP C C A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr9:79635503C>A ENST00000376708.1 + 1 933 c.933C>A c.(931-933)agC>agA p.S311R NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 311 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 ACGTCGTCAGCTCCGTGTGGC 0.716000 3 28 1 1 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2185891 2185891 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:2185891A>G ENST00000398665.3 + 3 199 c.163A>G c.(163-165)Atg>Gtg p.M55V NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 55 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAAGCTCGCTATGGAGAATTA 0.473000 114 378 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219619033 219619033 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:219619033G>T ENST00000392102.1 + 20 3861 c.3521G>T c.(3520-3522)tGc>tTc p.C1174F TTLL4_ENST00000457313.1_3'UTR|TTLL4_ENST00000258398.4_Missense_Mutation_p.C1174F|TTLL4_ENST00000442769.1_Missense_Mutation_p.C1110F NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1174 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GTGATCAAGTGCTCTGGGCAG 0.532000 110 69 3.10586e-51 3.48658e-51 1 1 0 AKAP7 9465 broad.mit.edu 37 6 131486247 131486247 + Silent SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:131486247G>A ENST00000431975.2 + 4 416 c.318G>A c.(316-318)caG>caA p.Q106Q AKAP7_ENST00000368123.4_Silent_p.Q84Q|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Silent_p.Q105Q NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) AGATCCTGCAGAATGCAATAA 0.323000 7 16 0 0 1 0 0 MUSK 4593 broad.mit.edu 37 9 113538208 113538208 + Nonsense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr9:113538208G>A ENST00000416899.2 + 9 1451 c.1325G>A c.(1324-1326)tGg>tAg p.W442* MUSK_ENST00000189978.5_Nonsense_Mutation_p.W442*|MUSK_ENST00000374438.1_Silent_p.L33L|MUSK_ENST00000374448.4_Nonsense_Mutation_p.W442* O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 442 FZ. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 AGCATGCATTGGGACCCCACG 0.488000 49 152 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983198 983198 + Missense_Mutation SNP G G A rs35467258 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:983198G>A ENST00000379370.2 + 22 3724 c.3674G>A c.(3673-3675)cGg>cAg p.R1225Q NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1225 SEA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GCCCTGCTCCGGCAGATCCAG 0.692000 12 20 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120270585 120270585 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:120270585G>A ENST00000392521.2 - 7 798 c.743C>T c.(742-744)tCa>tTa p.S248L CIT_ENST00000261833.7_Missense_Mutation_p.S248L NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 248 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CATCTTGTTTGAATTCATTTT 0.383000 23 95 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156395838 156395838 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:156395838G>A ENST00000461166.1 + 2 940 c.352G>A c.(352-354)Ggg>Agg p.G118R TIPARP_ENST00000542783.1_Missense_Mutation_p.G118R|TIPARP_ENST00000295924.7_Missense_Mutation_p.G118R|TIPARP_ENST00000486483.1_Missense_Mutation_p.G118R NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 118 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GACAAATGTTGGGGACCAGAT 0.458000 55 99 0 0 1 0 0 OLIG2 10215 broad.mit.edu 37 21 34399267 34399267 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr21:34399267G>A ENST00000333337.3 + 1 1025 c.97G>A c.(97-99)Gcc>Acc p.A33T AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.A33T Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 33 cytoplasm|nucleus|plasma membrane DNA binding breast(1)|central_nervous_system(2) 3 CAGCGGCAGCGCCTTCACTGG 0.721000 T TRA@ T-ALL 21 31 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25264609 25264609 + Splice_Site SNP G G A rs12866274 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr13:25264609G>A ENST00000218548.6 + 6 1013 c.680G>A c.(679-681)cGg>cAg p.R227Q ATP12A_ENST00000381946.3_Splice_Site_p.R227Q NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 227 Missing (in Ref. 7; CAA49477). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CAGGGGTGTCGGGTAAGCGGC 0.572000 52 65 0 0 1 0 0 KIAA1586 57691 broad.mit.edu 37 6 56917776 56917776 + Missense_Mutation SNP G G T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr6:56917776G>T ENST00000370733.4 + 4 686 c.479G>T c.(478-480)gGa>gTa p.G160V KIAA1586_ENST00000545356.1_Missense_Mutation_p.G133V|KIAA1586_ENST00000488682.1_3'UTR NM_020931.2 NP_065982.1 Q9HCI6 K1586_HUMAN KIAA1586 160 nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1) 18 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GGTAAATTAGGATGTAAGGAT 0.363000 32 36 1.62565e-12 1.77901e-12 1 1 0 C1orf65 164127 broad.mit.edu 37 1 223568378 223568378 + Missense_Mutation SNP G G A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:223568378G>A ENST00000366875.3 + 1 1664 c.1561G>A c.(1561-1563)Gtg>Atg p.V521M NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 521 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) CAGGAGTCACGTGCACAAGAC 0.577000 33 76 0 0 1 0 0 ZNF140 7699 broad.mit.edu 37 12 133682915 133682915 + Missense_Mutation SNP A A G TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:133682915A>G ENST00000355557.2 + 5 2335 c.1052A>G c.(1051-1053)cAt>cGt p.H351R ZNF140_ENST00000544426.1_Missense_Mutation_p.H248R|ZNF140_ENST00000440550.2_3'UTR NM_003440.2 NP_003431.2 P52738 ZN140_HUMAN zinc finger protein 140 351 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CAGAGAATTCATGCTGGAGAA 0.403000 29 87 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8375110 8375110 + Missense_Mutation SNP C C T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr12:8375110C>T ENST00000538603.1 - 7 1261 c.703G>A c.(703-705)Ggt>Agt p.G235S FAM90A1_ENST00000307435.6_Missense_Mutation_p.G235S NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 235 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CGACAGCCACCCGCAGGGCTG 0.657000 34 151 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202801 28202801 + Missense_Mutation SNP G G A rs140556122 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr15:28202801G>A ENST00000354638.3 - 16 1872 c.1717C>T c.(1717-1719)Cgc>Tgc p.R573C OCA2_ENST00000353809.5_Missense_Mutation_p.R549C|OCA2_ENST00000382996.2_Missense_Mutation_p.R573C NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 573 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGCAGCAGGCGGCGCACAGCT 0.657000 Oculocutaneous Albinism 15 38 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11536975 11536975 + Missense_Mutation SNP T T C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:11536975T>C ENST00000356392.4 - 7 1039 c.952A>G c.(952-954)Atg>Gtg p.M318V CCDC151_ENST00000591179.1_Missense_Mutation_p.M258V|CCDC151_ENST00000545100.1_Missense_Mutation_p.M264V|CCDC151_ENST00000586836.1_Missense_Mutation_p.M127V NM_145045.4 NP_659482.3 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 318 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TTGCGCTCCATGCGCTCGTTC 0.617000 15 16 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156814395 156814396 + Frame_Shift_Del DEL AC AC - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr1:156814395_156814396delAC ENST00000368195.3 - 14 2991_2992 c.2595_2596delGT c.(2593-2598)gtgtccfs p.S866fs NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 866 Fibronectin type-III 3. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGAAGACGGGACACACACAGCA 0.619 16 46 --- --- --- --- STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898813 48898825 + Splice_Site DEL TGATAAGGTACTG TGATAAGGTACTG - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:48898813_48898825delTGATAAGGTACTG ENST00000394754.1 + 10 3549_3555 c.3435_3441delTGATAAGGTACTG c.(3433-3441)tatgataag>ta p.YDK1145fs GTF2A1L_ENST00000430487.2_Splice_Site_p.YDK407fs|STON1-GTF2A1L_ENST00000309827.2_Splice_Site_p.YDK1145fs|STON1-GTF2A1L_ENST00000402114.2_Splice_Site_p.YDK1145fs|STON1-GTF2A1L_ENST00000394751.3_Splice_Site_p.YDK1098fs|STON1-GTF2A1L_ENST00000405008.1_Splice_Site_p.YDK1145fs|GTF2A1L_ENST00000403751.3_Splice_Site_p.YDK441fs NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1098 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCTGTCAGTATGATAAGGTACTGTATTTACCTT 0.347 13 77 --- --- --- --- TTN 7273 broad.mit.edu 37 2 179467293 179467294 + Frame_Shift_Del DEL GG GG - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:179467293_179467294delGG ENST00000589042.1 - 283 55059_55060 c.54835_54836delCC c.(54835-54837)ccafs p.P18279fs TTN_ENST00000342992.6_Frame_Shift_Del_p.P15711fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.P16638fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P9406fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.P9339fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.P9214fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16638 Fibronectin type-III 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTAACTTCTGGGCAAGAAGGT 0.406 2 4 --- --- --- --- TTLL4 9654 broad.mit.edu 37 2 219603241 219603241 + Frame_Shift_Del DEL C C - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr2:219603241delC ENST00000392102.1 + 3 1182 c.842delC c.(841-843)gccfs p.A281fs TTLL4_ENST00000457313.1_Frame_Shift_Del_p.A116fs|TTLL4_ENST00000258398.4_Frame_Shift_Del_p.A281fs|TTLL4_ENST00000442769.1_Frame_Shift_Del_p.A281fs NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 281 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CCAGCTGATGCCAGTGCCCAT 0.557 94 81 --- --- --- --- COL7A1 1294 broad.mit.edu 37 3 48602245 48602245 + Frame_Shift_Del DEL G G - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr3:48602245delG ENST00000328333.8 - 117 8896 c.8789delC c.(8788-8790)ccafs p.P2931fs COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Frame_Shift_Del_p.P2899fs NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2931 BPTI/Kunitz inhibitor.|Nonhelical region (NC2). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCCGGGGTGGGCAGCGGCG 0.662 22 93 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556474 85556475 + Frame_Shift_Ins INS - - T TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:85556474_85556475insT ENST00000295887.5 + 8 1203_1204 c.780_781insT c.(781-783)tttfs p.F261fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 261 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity p.G260G(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ACCTTTTTGGATTTTTTTTTGG 0.307 7 124 --- --- --- --- FAT4 79633 broad.mit.edu 37 4 126372619 126372619 + Frame_Shift_Del DEL T T - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr4:126372619delT ENST00000394329.3 + 9 10461 c.10448delT c.(10447-10449)gttfs p.V3483fs FAT4_ENST00000335110.5_Frame_Shift_Del_p.V1781fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3483 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTTTTGGCTGTTGATTCAGGG 0.453 31 179 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)accagc>agc p.T290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 8 155 --- --- --- --- CASP5 838 broad.mit.edu 37 11 104866565 104866565 + Frame_Shift_Del DEL T T - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr11:104866565delT ENST00000393141.2 - 9 1281 c.1250delA c.(1249-1251)cagfs p.Q417fs CASP5_ENST00000531367.1_Frame_Shift_Del_p.Q262fs|CASP5_ENST00000418434.1_Frame_Shift_Del_p.Q262fs|CASP5_ENST00000260315.3_Frame_Shift_Del_p.Q404fs|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000444749.2_Frame_Shift_Del_p.Q346fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.Q417fs NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 404 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AAATGATTTCTGTACCTAAAA 0.408 19 19 --- --- --- --- CDH16 1014 broad.mit.edu 37 16 66943235 66943235 + Frame_Shift_Del DEL C C - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:66943235delC ENST00000299752.4 - 17 2520 c.2327delG c.(2326-2328)cgcfs p.R776fs CDH16_ENST00000568632.1_Frame_Shift_Del_p.R679fs|CDH16_ENST00000565796.1_Frame_Shift_Del_p.R737fs|CDH16_ENST00000394055.3_Frame_Shift_Del_p.R754fs|CDH16_ENST00000570262.1_Frame_Shift_Del_p.R696fs NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 776 Ectodomain G. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GCCCTTCATGCGGCCCACCTT 0.627 13 16 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)cccagc>ccc p.S617del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 617 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 11 341 --- --- --- --- ESRP2 80004 broad.mit.edu 37 16 68264751 68264752 + Frame_Shift_Del DEL AG AG - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:68264751_68264752delAG ENST00000473183.2 - 13 2428_2429 c.1890_1891delCT c.(1888-1893)tactacfs p.YY630fs ESRP2_ENST00000565858.1_Frame_Shift_Del_p.YY640fs Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 640 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 TACCTTGGGTAGTAGGCTGTGT 0.574 416 151 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)gaadel p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 7 210 --- --- --- --- ZNF844 284391 broad.mit.edu 37 19 12186674 12186675 + Frame_Shift_Ins INS - - A TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr19:12186674_12186675insA ENST00000439326.3 + 4 914_915 c.739_740insA c.(739-741)cacfs p.H247fs ZNF844_ENST00000441304.2_3'UTR NM_001136501.1 NP_001129973.1 Q08AG5 ZN844_HUMAN zinc finger protein 844 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 TGAAAGAACTCACACTGGAGAG 0.386 5 11 --- --- --- --- MYH7B 57644 broad.mit.edu 37 20 33575993 33576005 + Frame_Shift_Del DEL GCGGGAGGGCATC GCGGGAGGGCATC - TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr20:33575993_33576005delGCGGGAGGGCATC ENST00000262873.7 + 17 1733_1745 c.1641_1653delGCGGGAGGGCATC c.(1639-1653)aagcgggagggcatcfs p.KREGI547fs NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 505 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGGAGTACAAGCGGGAGGGCATCGACTGGGTCT 0.545 17 72 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- --- CABIN1 23523 broad.mit.edu 37 22 24491903 24491904 + Frame_Shift_Ins INS - - GGCTCCAT TCGA-FD-A5C0-01A-11D-A289-08 TCGA-FD-A5C0-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0fb04c1-6f04-4d07-b29e-37da75cd7dc9 5bd833d0-edb5-4268-bff2-85705ea3654f g.chr22:24491903_24491904insGGCTCCAT ENST00000398319.2 + 25 4181_4182 c.3796_3797insGGCTCCAT c.(3796-3798)cggfs p.-1268fs CABIN1_ENST00000405822.2_Frame_Shift_Ins_p.-1218fs|CABIN1_ENST00000263119.5_Frame_Shift_Ins_p.-1268fs NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GGTGTACTTTCGGCTCCATGCT 0.545 29 188 --- --- --- ---