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 APOB 338 broad.mit.edu 37 2 21250797 21250797 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:21250797C>A ENST00000233242.1 - 14 2097 c.1970G>T c.(1969-1971)gGg>gTg p.G657V APOB_ENST00000399256.4_Missense_Mutation_p.G657V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 657 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATAAGATTCCCTTCTATTTT 0.413000 12 110 0.00185496 0.00193098 0.435327 1 0 TTC37 9652 broad.mit.edu 37 5 94860190 94860190 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:94860190C>T ENST00000358746.2 - 16 1729 c.1431G>A c.(1429-1431)aaG>aaA p.K477K NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 477 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GGGTAAGAGCCTTTGTTTTAT 0.333000 12 51 0 0 0.387290 0 0 CLDN25 644672 broad.mit.edu 37 11 113650992 113650992 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:113650992C>A ENST00000453129.2 + 1 524 c.475C>A c.(475-477)Cgg>Agg p.R159R NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 159 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 CATCATACCTCGGTGGGAGTT 0.577000 9 37 3.09899e-07 3.61074e-07 0.307466 1 0 MYOC 4653 broad.mit.edu 37 1 171605171 171605171 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:171605171C>T ENST00000037502.5 - 3 1468 c.1409G>A c.(1408-1410)cGc>cAc p.R470H NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 470 Olfactomedin-like. R -> C (in GLC1A).|R -> H. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GTACTTATAGCGGTTCTTGAA 0.488000 6 114 0 0 0.217242 0 0 TRPM5 29850 broad.mit.edu 37 11 2432639 2432639 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:2432639C>T ENST00000452833.1 - 18 2739 c.2731G>A c.(2731-2733)Gtg>Atg p.V911M TRPM5_ENST00000533060.1_Missense_Mutation_p.V909M|TRPM5_ENST00000528453.1_Missense_Mutation_p.V909M|TRPM5_ENST00000155858.6_Missense_Mutation_p.V909M Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 909 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CGGTAGAGCACCCGGCGGAAG 0.632000 15 30 0 0 0.457914 0 0 SI 6476 broad.mit.edu 37 3 164766974 164766974 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:164766974C>A ENST00000264382.3 - 15 1718 c.1656G>T c.(1654-1656)tgG>tgT p.W552C NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 552 Isomaltase. 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 p.W552C(1) 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) ACTGTTTACCCCAGTTCTGCA 0.338000 HNSCC(35;0.089) 14 55 1.3612e-06 1.56446e-06 0.479597 1 0 LILRB2 10288 broad.mit.edu 37 19 54780767 54780767 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:54780767C>A ENST00000391748.1 - 10 1501 c.1374G>T c.(1372-1374)ctG>ctT p.L458L LILRB2_ENST00000314446.5_Silent_p.L458L|LILRB2_ENST00000391746.1_Silent_p.L459L|LILRB2_ENST00000391749.4_Silent_p.L459L|LILRB2_ENST00000434421.1_Silent_p.L343L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 459 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCACAACCCCCAGGTGCCTTC 0.572000 18 33 3.52763e-06 3.96468e-06 0.520397 1 0 FRG1B 284802 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 7 99 0 0 0.361761 0 0 MYCBP2 23077 broad.mit.edu 37 13 77670506 77670506 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:77670506C>A ENST00000407578.2 - 57 10161 c.9895G>T c.(9895-9897)Gta>Tta p.V3299L MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.V3261L|MYCBP2_ENST00000544440.2_Missense_Mutation_p.V3261L NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CGATCACATACCAGATACCAA 0.438000 44 132 2.13384e-23 3.04492e-23 0.870114 1 0 JAKMIP1 152789 broad.mit.edu 37 4 6107526 6107526 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:6107526C>A ENST00000409021.3 - 3 747 c.298G>T c.(298-300)Gcg>Tcg p.A100S JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A100S|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A100S NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 100 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCGGTGCGCGCCGCCTCCTGC 0.682000 14 31 0.000151284 0.000160779 0.435327 1 0 HIST1H3G 8355 broad.mit.edu 37 6 26271216 26271216 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr6:26271216C>A ENST00000305910.3 - 1 396 c.397G>T c.(397-399)Ggg>Tgg p.G133W NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 133 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GCTCTCTCCCCACGAATGCGG 0.493000 17 69 5.03518e-11 6.39468e-11 0.557998 1 0 SHANK1 50944 broad.mit.edu 37 19 51217099 51217099 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:51217099C>T ENST00000293441.1 - 5 766 c.748G>A c.(748-750)Gca>Aca p.A250T SHANK1_ENST00000391814.1_Missense_Mutation_p.A250T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A250T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 250 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TTATGCAGTGCGGTCATGCCA 0.657000 8 69 0 0 0.307466 0 0 DTNA 1837 broad.mit.edu 37 18 32407563 32407563 + Silent SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr18:32407563C>G ENST00000283365.9 + 12 1368 c.1017C>G c.(1015-1017)ccC>ccG p.P339P DTNA_ENST00000348997.5_Silent_p.P336P|DTNA_ENST00000595022.1_Silent_p.P336P|DTNA_ENST00000599844.1_Silent_p.P18P|DTNA_ENST00000269192.7_Silent_p.P18P|DTNA_ENST00000598774.1_Silent_p.P339P|DTNA_ENST00000269190.7_Silent_p.P340P|DTNA_ENST00000597674.1_Silent_p.P18P|DTNA_ENST00000601125.1_Silent_p.P18P|DTNA_ENST00000598142.1_Silent_p.P339P|DTNA_ENST00000598334.1_Silent_p.P336P|DTNA_ENST00000444659.1_Silent_p.P339P|DTNA_ENST00000554864.3_Silent_p.P336P|DTNA_ENST00000591182.1_Silent_p.P18P|DTNA_ENST00000315456.6_Silent_p.P339P|DTNA_ENST00000399121.5_Silent_p.P336P|DTNA_ENST00000399097.3_Silent_p.P18P|DTNA_ENST00000556414.3_Silent_p.P18P|DTNA_ENST00000269191.6_Silent_p.P339P|DTNA_ENST00000597599.1_Silent_p.P336P|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399113.3_Silent_p.P339P NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 339 neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 TTAGGCCTCCCAGACCTGTAA 0.438000 21 109 0 0 0.639603 0 0 ZNF217 7764 broad.mit.edu 37 20 52199100 52199100 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:52199100C>A ENST00000371471.2 - 2 691 c.266G>T c.(265-267)cGg>cTg p.R89L ZNF217_ENST00000302342.3_Missense_Mutation_p.R89L O75362 ZN217_HUMAN zinc finger protein 217 89 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GAGGGTAGGCCGGTGTTGCAT 0.463000 40 127 4.32679e-17 5.94057e-17 0.827153 1 0 PITPNM1 9600 broad.mit.edu 37 11 67263770 67263770 + Silent SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:67263770C>G ENST00000356404.3 - 15 2421 c.2196G>C c.(2194-2196)gcG>gcC p.A732A PITPNM1_ENST00000534749.1_Silent_p.A732A|PITPNM1_ENST00000436757.2_Silent_p.A731A NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 732 DDHD. brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGGGGTCAGCCGCGTGGAAGA 0.642000 17 51 0 0 0.520397 0 0 OR2M4 26245 broad.mit.edu 37 1 248403107 248403107 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:248403107C>G ENST00000306687.1 + 1 877 c.877C>G c.(877-879)Cgc>Ggc p.R293G NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R293C(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) TTATAGCCTCCGCAACAAAGA 0.438000 13 83 0 0 0.479597 0 0 ZNF251 90987 broad.mit.edu 37 8 145948540 145948540 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:145948540T>A ENST00000292562.7 - 5 780 c.505A>T c.(505-507)Acc>Tcc p.T169S ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CTGCCCACGGTAGCTTCTGTT 0.448000 26 95 0 0 0.693898 0 0 HERC2 8924 broad.mit.edu 37 15 28460848 28460848 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:28460848G>A ENST00000261609.7 - 39 6237 c.6129C>T c.(6127-6129)ctC>ctT p.L2043L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2043 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCGGGGAGCTGAGGGCGCCGC 0.632000 13 26 0 0 0.435327 0 0 MPPED1 758 broad.mit.edu 37 22 43898607 43898607 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr22:43898607C>T ENST00000417669.1 + 6 1276 c.832C>T c.(832-834)Cgg>Tgg p.R278W MPPED1_ENST00000443721.1_Missense_Mutation_p.R278W|MPPED1_ENST00000439548.1_Missense_Mutation_p.R120W|MPPED1_ENST00000414469.2_Missense_Mutation_p.R172W|MPPED1_ENST00000538182.1_Missense_Mutation_p.R311W|MPPED1_ENST00000542779.1_Missense_Mutation_p.R278W O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 278 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CGTCCAGCCGCGGTTACATGT 0.627000 34 73 0 0 0.812448 0 0 SLC9A2 6549 broad.mit.edu 37 2 103317539 103317539 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:103317539T>C ENST00000233969.2 + 8 1739 c.1597T>C c.(1597-1599)Ttt>Ctt p.F533L SLC9A2_ENST00000469286.1_3'UTR NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 533 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GTTTAAGAAGTTTGATGATAA 0.294000 9 47 0 0 0.307466 0 0 UBB 7314 broad.mit.edu 37 17 16285719 16285719 + Silent SNP T T C rs1060763 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:16285719T>C ENST00000302182.3 + 2 890 c.498T>C c.(496-498)acT>acC p.T166T UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395837.1_Silent_p.T166T|UBB_ENST00000395839.1_Silent_p.T166T|UBB_ENST00000535788.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 166 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AGACCATCACTCTGGAGGTGG 0.552000 3 48 0 0 0.150653 0 0 ZIK1 284307 broad.mit.edu 37 19 58101399 58101399 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:58101399G>T ENST00000597850.1 + 4 435 c.220G>T c.(220-222)Gat>Tat p.D74Y ZIK1_ENST00000536878.2_Missense_Mutation_p.D61Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.D19Y|ZIK1_ENST00000307468.4_Missense_Mutation_p.R18S NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGAACAGAGGATGAAGAGAC 0.463000 5 45 0.184627 0.185357 0.184627 1 0 SCP2D1 140856 broad.mit.edu 37 20 18794596 18794596 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:18794596C>A ENST00000377428.2 + 1 227 c.137C>A c.(136-138)cCa>cAa p.P46Q C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 GAGAGCTTCCCAGTGTTTCAG 0.507000 23 38 2.89027e-11 3.68909e-11 0.624587 1 0 GPR112 139378 broad.mit.edu 37 X 135432398 135432398 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chrX:135432398T>C ENST00000394143.1 + 6 6824 c.6533T>C c.(6532-6534)cTt>cCt p.L2178P GPR112_ENST00000412101.1_Missense_Mutation_p.L1973P|GPR112_ENST00000394141.1_Missense_Mutation_p.L1973P|GPR112_ENST00000287534.4_Missense_Mutation_p.L2115P|GPR112_ENST00000370652.1_Missense_Mutation_p.L2178P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2178 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGGACTCCCTTCTAAATATA 0.428000 52 87 0 0 0.870114 0 0 NRG2 9542 broad.mit.edu 37 5 139260463 139260463 + Silent SNP C C A rs111392314 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:139260463C>A ENST00000541337.1 - 3 1198 c.969G>T c.(967-969)cgG>cgT p.R323R NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000394770.1_Silent_p.R323R|NRG2_ENST00000358522.3_Silent_p.R323R|NRG2_ENST00000361474.1_Silent_p.R323R|NRG2_ENST00000545385.1_Silent_p.R323R|NRG2_ENST00000289422.7_Silent_p.R323R|NRG2_ENST00000340391.3_Silent_p.R120R|NRG2_ENST00000289409.4_Silent_p.R323R NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 374 Ig-like C2-type. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGCCGGCCCCGGACGGTGT 0.637000 26 55 1.66031e-10 2.0981e-10 0.667858 1 0 ZAN 7455 broad.mit.edu 37 7 100348417 100348417 + RNA SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:100348417G>C ENST00000542585.1 + 0 1567 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GAAGTCCTGCGGGGAGTCCCC 0.622000 8 19 0 0 0.335167 0 0 PRPSAP1 5635 broad.mit.edu 37 17 74328494 74328494 + Nonsense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:74328494C>A ENST00000446526.3 - 4 758 c.313G>T c.(313-315)Gag>Tag p.E105* PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E2* NM_002766.2 NP_002757.2 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 1 76 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 ATGAGCAACTCCATCACAGCT 0.428000 22 79 1.28384e-07 1.52381e-07 0.608945 1 0 CIT 11113 broad.mit.edu 37 12 120156087 120156087 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:120156087C>T ENST00000392521.2 - 32 4186 c.4131G>A c.(4129-4131)ccG>ccA p.P1377P CIT_ENST00000261833.7_Silent_p.P1335P|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1335 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) GGCTGGATGGCGGGGCCAGCA 0.572000 3 45 0 0 0.115264 0 0 ASGR2 433 broad.mit.edu 37 17 7012167 7012167 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:7012167G>A ENST00000380952.2 - 3 429 c.165C>T c.(163-165)tcC>tcT p.S55S ASGR2_ENST00000446679.2_Silent_p.S36S|ASGR2_ENST00000254850.7_Silent_p.S36S|ASGR2_ENST00000355035.5_Silent_p.S55S NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 55 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) AGCAGACCATGGAGCAGAGAC 0.647000 6 3 0 0 0.217242 0 0 ELP5 23587 broad.mit.edu 37 17 7155866 7155866 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:7155866G>A ENST00000574993.1 + 1 262 c.45G>A c.(43-45)ttG>ttA p.L15L ELP5_ENST00000396627.2_Silent_p.L15L|ELP5_ENST00000396628.2_Silent_p.L15L|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574255.1_Silent_p.L15L|ELP5_ENST00000573657.1_Silent_p.L15L|ELP5_ENST00000354429.2_Silent_p.L15L|ELP5_ENST00000356683.2_Silent_p.L15L elongator acetyltransferase complex subunit 5 GACGCGAGTTGGAGATGTTGG 0.701000 7 15 0 0 0.278610 0 0 KLHL9 55958 broad.mit.edu 37 9 21334009 21334009 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr9:21334009G>C ENST00000359039.4 - 1 1370 c.850C>G c.(850-852)Cca>Gca p.P284A KLHL9_ENST00000537938.1_Missense_Mutation_p.P216A Q9P2J3 KLHL9_HUMAN kelch-like family member 9 284 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) TGCATCACTGGCTGCATATAT 0.423000 29 68 0 0 0.717897 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580839 234580839 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:234580839G>C ENST00000354728.4 + 1 341 c.259G>C c.(259-261)Gac>Cac p.D87H UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) GGAGGATCTGGACCGGGAGTT 0.418000 40 55 0 0 0.819951 0 0 BAZ2B 29994 broad.mit.edu 37 2 160189181 160189181 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:160189181C>T ENST00000392783.2 - 34 6308 c.5813G>A c.(5812-5814)cGa>cAa p.R1938Q BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1902Q|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1904Q|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R1838Q NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1938 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 ATCTCCCTTTCGACAGATTTG 0.368000 23 66 0 0 0.667858 0 0 PDE9A 5152 broad.mit.edu 37 21 44182290 44182290 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr21:44182290G>A ENST00000291539.6 + 14 1243 c.1183G>A c.(1183-1185)Gag>Aag p.E395K PDE9A_ENST00000328862.6_Missense_Mutation_p.E369K|PDE9A_ENST00000398236.3_Missense_Mutation_p.E309K|PDE9A_ENST00000335512.4_Missense_Mutation_p.E335K|PDE9A_ENST00000398225.3_Missense_Mutation_p.E354K|PDE9A_ENST00000398232.3_Missense_Mutation_p.E328K|PDE9A_ENST00000398234.3_Missense_Mutation_p.E294K|PDE9A_ENST00000349112.3_Missense_Mutation_p.E267K|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398227.3_Missense_Mutation_p.E235K|PDE9A_ENST00000398229.3_Missense_Mutation_p.E261K|PDE9A_ENST00000539837.1_Missense_Mutation_p.E267K|PDE9A_ENST00000380328.2_Missense_Mutation_p.E342K|PDE9A_ENST00000398224.3_Missense_Mutation_p.E268K|PDE9A_ENST00000335440.6_Missense_Mutation_p.E293K NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 395 Catalytic (By similarity). platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding p.E395K(1) breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GATCCTCGCCGAGCCTGAGTG 0.612000 18 89 0 0 0.520397 0 0 PCNT 5116 broad.mit.edu 37 21 47769710 47769710 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr21:47769710G>C ENST00000359568.5 + 8 1427 c.1320G>C c.(1318-1320)gaG>gaC p.E440D PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 440 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGTTCAAAGAGAGCGAGAAAG 0.443000 18 132 0 0 0.520397 0 0 IL16 3603 broad.mit.edu 37 15 81575082 81575082 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:81575082T>A ENST00000394660.2 + 9 1544 c.1184T>A c.(1183-1185)cTg>cAg p.L395Q IL16_ENST00000302987.4_Missense_Mutation_p.L395Q NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 395 Interaction with GRIN2A.|PDZ 2. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 GTGGCGCACCTGGACGGACGT 0.547000 43 207 0 0 0.870114 0 0 C10orf2 56652 broad.mit.edu 37 10 102753043 102753043 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:102753043G>T ENST00000311916.2 + 5 2016 c.1831G>T c.(1831-1833)Gat>Tat p.D611Y C10orf2_ENST00000370228.1_3'UTR|C10orf2_ENST00000473656.1_3'UTR NM_001163813.1|NM_021830.4 NP_001157285.1|NP_068602.2 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 611 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GAACCGCTTTGATGGAGATGT 0.527000 48 140 6.4308e-24 9.22838e-24 0.870114 1 0 FBXW7 55294 broad.mit.edu 37 4 153332619 153332619 + Nonsense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:153332619C>A ENST00000281708.4 - 2 1566 c.337G>T c.(337-339)Gag>Tag p.E113* FBXW7_ENST00000603548.1_Nonsense_Mutation_p.E113*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.E113*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.E113* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 113 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) tcctcctcctcatcctcctcA 0.423000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 20 70 4.96729e-08 6.00806e-08 0.575678 1 0 ZNF676 163223 broad.mit.edu 37 19 22363587 22363587 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:22363587C>G ENST00000397121.2 - 3 1249 c.932G>C c.(931-933)tGt>tCt p.C311S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ACATTCTTCACACTTGTAGGG 0.443000 5 99 0 0 0.278610 0 0 KRT74 121391 broad.mit.edu 37 12 52962144 52962144 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:52962144G>A ENST00000549343.1 - 8 1244 c.1206C>T c.(1204-1206)gaC>gaT p.D402D KRT74_ENST00000305620.2_Silent_p.D388D Q7RTS7 K2C74_HUMAN keratin 74 388 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCTGCTCAGCGTCAGCGATGG 0.577000 5 34 0 0 0.184627 0 0 PPP1R17 10842 broad.mit.edu 37 7 31732113 31732113 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:31732113C>A ENST00000342032.3 + 2 686 c.58C>A c.(58-60)Cta>Ata p.L20I PPP1R17_ENST00000409146.3_Missense_Mutation_p.L20I NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 20 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction ACTGGACAAGCTAGACCCTCG 0.488000 18 37 9.16793e-09 1.12495e-08 0.520397 1 0 CHRFAM7A 89832 broad.mit.edu 37 15 30664536 30664536 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:30664536C>A ENST00000397827.3 - 6 838 c.64G>T c.(64-66)Ggc>Tgc p.G22C CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.G113C|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.G22C NM_148911.1 NP_683709.1 Q494W8 CRFM7_HUMAN CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 113 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity large_intestine(3)|lung(1)|skin(2) 6 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTCCTCTTGCCGGGGATTCCT 0.488000 5 11 2.74318e-10 3.44934e-10 0.335167 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117417623 117417623 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:117417623T>A ENST00000160373.3 - 8 2811 c.2720A>T c.(2719-2721)aAc>aTc p.N907I NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 907 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTTGGCGTGGTTAATGAGGTC 0.498000 16 57 0 0 0.592651 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318595 30318595 + Missense_Mutation SNP T T G rs146919048 by1000genomes TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:30318595T>G ENST00000375377.1 - 3 583 c.482A>C c.(481-483)gAg>gCg p.E161A NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 161 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CATCACATGCTCTGACCTTCC 0.567000 11 310 0 0 0.361761 0 0 SFXN5 94097 broad.mit.edu 37 2 73172187 73172187 + Silent SNP C C A rs147845998 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:73172187C>A ENST00000272433.2 - 14 1117 c.987G>T c.(985-987)acG>acT p.T329T SFXN5_ENST00000410065.1_3'UTR|SFXN5_ENST00000474528.1_5'UTR NM_144579.2 NP_653180.1 Q8TD22 SFXN5_HUMAN sideroflexin 5 329 iron ion homeostasis integral to membrane cation transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1) 9 TCCGGCTGCTCGTGGCCTGGG 0.602000 8 22 3.09899e-07 3.61074e-07 0.307466 1 0 LRRC8E 80131 broad.mit.edu 37 19 7963879 7963879 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:7963879G>A ENST00000306708.6 + 3 573 c.472G>A c.(472-474)Gac>Aac p.D158N AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 158 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 CAAGTGTTTCGACTCTCCATG 0.577000 6 121 0 0 0.217242 0 0 PCNX 22990 broad.mit.edu 37 14 71485796 71485796 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:71485796C>G ENST00000304743.2 + 12 3513 c.3067C>G c.(3067-3069)Ctt>Gtt p.L1023V PCNX_ENST00000439984.3_Missense_Mutation_p.L912V|PCNX_ENST00000238570.5_Missense_Mutation_p.L1023V NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1023 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) GGGATCTATTCTTCTCATACA 0.433000 41 121 0 0 0.834066 0 0 GON4L 54856 broad.mit.edu 37 1 155735478 155735478 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:155735478G>A ENST00000437809.1 - 21 3908 c.3786C>T c.(3784-3786)ttC>ttT p.F1262F GON4L_ENST00000368331.1_Silent_p.F1262F|GON4L_ENST00000361040.5_Silent_p.F1262F|GON4L_ENST00000271883.5_Silent_p.F1262F|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1262 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCACTTTCGGGAAAACAGTAG 0.512000 9 110 0 0 0.307466 0 0 PCSK7 9159 broad.mit.edu 37 11 117100519 117100519 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:117100519G>A ENST00000320934.3 - 3 672 c.42C>T c.(40-42)ccC>ccT p.P14P NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 14 peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GCAGGCCCAGGGGGGCATCCA 0.587000 T IGH@ MLCLS 3 21 0 0 0.115264 0 0 NKAIN3 286183 broad.mit.edu 37 8 63492112 63492112 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:63492112G>C ENST00000523211.1 + 2 201 c.69G>C c.(67-69)gaG>gaC p.E23D NKAIN3_ENST00000328472.5_Missense_Mutation_p.E23D|NKAIN3_ENST00000519049.1_3'UTR NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 23 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CAGCATTAGAGAGGCAGATCT 0.383000 6 162 0 0 0.248553 0 0 TSR1 55720 broad.mit.edu 37 17 2239378 2239378 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:2239378C>A ENST00000301364.4 - 2 1233 c.154G>T c.(154-156)Gac>Tac p.D52Y NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 52 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGCCTCTGGTCGACTCTGCTG 0.567000 31 87 7.63091e-17 1.04207e-16 0.834066 1 0 ZNF532 55205 broad.mit.edu 37 18 56651465 56651465 + Missense_Mutation SNP G G A rs142104041 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr18:56651465G>A ENST00000336078.4 + 11 4449 c.3673G>A c.(3673-3675)Gta>Ata p.V1225I ZNF532_ENST00000591808.1_Missense_Mutation_p.V1225I|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000589288.1_Missense_Mutation_p.V1225I|ZNF532_ENST00000591230.1_Missense_Mutation_p.V1225I|ZNF532_ENST00000591083.1_Missense_Mutation_p.V1225I NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CCTCTTCATCGTACACAAGTT 0.532000 11 38 0 0 0.411799 0 0 ZNF382 84911 broad.mit.edu 37 19 37100919 37100919 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:37100919G>T ENST00000435416.1 + 1 1598 c.103G>T c.(103-105)Gtg>Ttg p.V35L ZNF382_ENST00000423582.1_Intron|ZNF382_ENST00000292928.2_Missense_Mutation_p.V35L|ZNF382_ENST00000439428.1_Missense_Mutation_p.V34L Q96SR6 ZN382_HUMAN zinc finger protein 382 35 KRAB.|Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTACAGGGATGTGATGTTGGA 0.463000 16 72 2.31682e-05 2.49353e-05 0.479597 1 0 EYA1 2138 broad.mit.edu 37 8 72127907 72127907 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:72127907C>A ENST00000340726.3 - 15 2056 c.1417G>T c.(1417-1419)Gcc>Tcc p.A473S EYA1_ENST00000388742.4_Missense_Mutation_p.A473S|EYA1_ENST00000388740.3_Missense_Mutation_p.A440S|EYA1_ENST00000388741.2_Missense_Mutation_p.A439S|EYA1_ENST00000303824.7_Missense_Mutation_p.A467S|EYA1_ENST00000419131.1_Missense_Mutation_p.A438S|EYA1_ENST00000388743.2_Missense_Mutation_p.A472S NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 473 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) TCGGTCAGGGCTTCAATTTCG 0.542000 22 79 1.50039e-11 1.92474e-11 0.608945 1 0 SHC4 399694 broad.mit.edu 37 15 49255125 49255125 + Missense_Mutation SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:49255125A>G ENST00000332408.4 - 1 516 c.88T>C c.(88-90)Tac>Cac p.Y30H NM_203349.3 NP_976224.3 Q6S5L8 SHC4_HUMAN SHC (Src homology 2 domain containing) family, member 4 30 CH2. intracellular signal transduction cell junction|postsynaptic membrane breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 29 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) AAGCGGCTGTACTTGGCCCTG 0.652000 36 86 0 0 0.834066 0 0 LGR5 8549 broad.mit.edu 37 12 71946940 71946940 + Missense_Mutation SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:71946940T>G ENST00000266674.5 + 5 827 c.516T>G c.(514-516)aaT>aaG p.N172K LGR5_ENST00000540815.2_Missense_Mutation_p.N172K|LGR5_ENST00000536515.1_Intron O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 172 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TGGATGACAATGCGTTAACAG 0.507000 14 89 0 0 0.457914 0 0 ASXL3 80816 broad.mit.edu 37 18 31318469 31318469 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr18:31318469G>T ENST00000269197.5 + 11 1101 c.1101G>T c.(1099-1101)gaG>gaT p.E367D NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TGTCAAGAGAGGAATCTGTGA 0.433000 7 11 0.00307968 0.00317983 0.278610 1 0 DPY19L3 147991 broad.mit.edu 37 19 32923654 32923654 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:32923654G>C ENST00000342179.5 + 4 485 c.270G>C c.(268-270)gaG>gaC p.E90D DPY19L3_ENST00000392250.2_Missense_Mutation_p.E90D|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E90D NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 90 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) TCAGAACAGAGTGTGGCCTGT 0.408000 15 60 0 0 0.557998 0 0 CPQ 10404 broad.mit.edu 37 8 97797153 97797153 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:97797153G>T ENST00000220763.5 + 2 238 c.28G>T c.(28-30)Ggt>Tgt p.G10C NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 10 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity CGCATTTTTCGGTGGTGTTCA 0.338000 20 127 2.4624e-09 3.05097e-09 0.575678 1 0 CDH22 64405 broad.mit.edu 37 20 44839089 44839089 + Silent SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:44839089C>G ENST00000372262.3 - 6 1543 c.1143G>C c.(1141-1143)gtG>gtC p.V381V CDH22_ENST00000537909.1_Silent_p.V381V|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 381 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CGGCCACGCGCACGATCGCCT 0.716000 3 14 0 0 0.115264 0 0 DNAH5 1767 broad.mit.edu 37 5 13701495 13701495 + Silent SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:13701495T>C ENST00000265104.4 - 77 13493 c.13389A>G c.(13387-13389)gaA>gaG p.E4463E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4463 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) GGCTGTTTCTTTCTATAAGTT 0.398000 Kartagener syndrome 12 113 0 0 0.557998 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175434 143175434 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:143175434C>G ENST00000408916.1 + 1 469 c.469C>G c.(469-471)Caa>Gaa p.Q157E EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 157 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCCTGTATATCAAGAATTTTT 0.443000 12 46 0 0 0.435327 0 0 ABCC2 1244 broad.mit.edu 37 10 101564028 101564028 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:101564028C>G ENST00000370449.4 + 10 1575 c.1462C>G c.(1462-1464)Cag>Gag p.Q488E NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 488 ABC transmembrane type-1 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TAAGACCATTCAGGTAAAGAA 0.418000 26 59 0 0 0.667858 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 12 2.17888e-05 2.35504e-05 0.335167 1 0 KIR3DX1 90011 broad.mit.edu 37 19 55044043 55044043 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:55044043G>T ENST00000335056.3 + 1 67 c.29G>T c.(28-30)tGt>tTt p.C10F endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) ACCGTCCTGTGTCTGGGTAAG 0.537000 36 124 9.8876e-21 1.40304e-20 0.804634 1 0 OR5I1 10798 broad.mit.edu 37 11 55703583 55703583 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:55703583C>A ENST00000301532.3 - 1 293 c.294G>T c.(292-294)ggG>ggT p.G98G NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G98G(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GCAGGGCACACCCATAATAGG 0.418000 7 35 5.18039e-06 5.79656e-06 0.278610 1 0 FRMPD2 143162 broad.mit.edu 37 10 49448431 49448431 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:49448431C>A ENST00000374201.3 - 6 974 c.672G>T c.(670-672)caG>caT p.Q224H FRMPD2_ENST00000407470.4_Missense_Mutation_p.Q193H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.Q200H NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 224 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ACTCCGGGGCCTGTGCCGCTG 0.577000 7 49 0.000157383 0.000166564 0.278610 1 0 PYHIN1 149628 broad.mit.edu 37 1 158909030 158909030 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:158909030C>T ENST00000368140.1 + 4 817 c.572C>T c.(571-573)tCa>tTa p.S191L PYHIN1_ENST00000392252.3_Missense_Mutation_p.S182L|PYHIN1_ENST00000368138.3_Missense_Mutation_p.S182L|PYHIN1_ENST00000368135.4_Missense_Mutation_p.S191L|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S191L NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 191 cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) AACACTTCCTCAACTGAGGTA 0.498000 18 97 0 0 0.608945 0 0 EXOC1 55763 broad.mit.edu 37 4 56770652 56770652 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:56770652G>T ENST00000381295.2 + 19 3024 c.2676G>T c.(2674-2676)caG>caT p.Q892H EXOC1_ENST00000346134.7_Missense_Mutation_p.Q892H|EXOC1_ENST00000349598.6_Missense_Mutation_p.Q877H NM_001024924.1 NP_001020095.1 Q9NV70 EXOC1_HUMAN exocyst complex component 1 892 exocytosis|protein transport exocyst protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 35 Glioma(25;0.08)|all_neural(26;0.101) GCATTGCACAGTCCCACTAAA 0.388000 22 72 1.10513e-12 1.44693e-12 0.624587 1 0 CD200R1 131450 broad.mit.edu 37 3 112643993 112643993 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:112643993G>T ENST00000471858.1 - 5 980 c.748C>A c.(748-750)Ctt>Att p.L250I CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.L273I NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 250 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 ATAATAGTAAGGATGATATAT 0.308000 10 38 2.17888e-05 2.35504e-05 0.335167 1 0 GPRIN3 285513 broad.mit.edu 37 4 90170093 90170093 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:90170093G>A ENST00000333209.3 - 2 1687 c.1169C>T c.(1168-1170)cCa>cTa p.P390L NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 390 P -> S (in dbSNP:rs11733183). breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GTGCACCTGTGGCATGATGCC 0.567000 38 86 0 0 0.812448 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64694295 64694295 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:64694295G>C ENST00000164133.2 + 3 933 c.311G>C c.(310-312)cGg>cCg p.R104P NM_006244.3 NP_006235.1 Q15173 2A5B_HUMAN protein phosphatase 2, regulatory subunit B', beta 104 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 GAGGTGAAGCGGGCAGCCCTC 0.632000 19 74 0 0 0.557998 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857007 19857007 + RNA SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:19857007G>T ENST00000548109.1 + 0 72 TCTGTCATGCGTATTATACTC 0.378000 13 39 3.62473e-10 4.53538e-10 0.608945 1 0 FAM86FP 653113 broad.mit.edu 37 12 8386955 8386955 + RNA SNP T T C rs75997195 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:8386955T>C ENST00000427893.2 - 0 811 CTTGTGCTCCTGGCAGGCAGC 0.612000 5 59 0 0 0.248553 0 0 TEX26 122046 broad.mit.edu 37 13 31513847 31513847 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:31513847G>T ENST00000380473.3 + 2 91 c.78G>T c.(76-78)tgG>tgT p.W26C NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 26 ACCCCAACTGGGATTCCTATG 0.358000 12 50 0.000151284 0.000160779 0.435327 1 0 SCO2 9997 broad.mit.edu 37 22 50962824 50962824 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr22:50962824C>G ENST00000543927.1 - 2 223 c.17G>C c.(16-18)cGg>cCg p.R6P SCO2_ENST00000535425.1_Missense_Mutation_p.R6P|SCO2_ENST00000395693.3_Missense_Mutation_p.R6P|SCO2_ENST00000252785.3_Missense_Mutation_p.R6P NM_001169109.1 NP_001162580.1 O43819 SCO2_HUMAN SCO2 cytochrome c oxidase assembly protein 6 cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding endometrium(1)|lung(1) 2 all_cancers(38;4.58e-14)|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) TGTGGGGCTCCGAGTCAGCAG 0.637000 3 42 0 0 0.115264 0 0 SOX8 30812 broad.mit.edu 37 16 1035178 1035178 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr16:1035178G>A ENST00000293894.3 + 3 1248 c.1133G>A c.(1132-1134)gGc>gAc p.G378D NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 378 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) cccTTCGCCGGCTCACAGGGC 0.726000 3 28 0 0 0.115264 0 0 KIAA0930 23313 broad.mit.edu 37 22 45599789 45599789 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr22:45599789G>A ENST00000336156.4 - 6 659 c.594C>T c.(592-594)ttC>ttT p.F198F KIAA0930_ENST00000251993.7_Silent_p.F203F|KIAA0930_ENST00000391627.2_Silent_p.F164F|KIAA0930_ENST00000443310.3_Silent_p.F180F NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 198 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 TGACCCCCTGGAACGTGTTGG 0.587000 16 41 0 0 0.500413 0 0 GLRA1 2741 broad.mit.edu 37 5 151208514 151208514 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:151208514G>T ENST00000274576.4 - 8 1319 c.1027C>A c.(1027-1029)Ctc>Atc p.L343I GLRA1_ENST00000545569.1_Missense_Mutation_p.L260I|GLRA1_ENST00000455880.2_Missense_Mutation_p.L343I NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 343 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTGAATCGGAGCAGCTCCTTA 0.473000 62 147 8.81991e-31 1.27287e-30 0.870114 1 0 SERPINB11 89778 broad.mit.edu 37 18 61377489 61377489 + RNA SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr18:61377489G>T ENST00000544088.1 + 0 124 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_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) GAGCTGAACAGTAACAACATA 0.438000 15 17 3.27435e-08 3.97936e-08 0.457914 1 0 MTUS2 23281 broad.mit.edu 37 13 29598883 29598883 + Silent SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:29598883G>T ENST00000431530.3 + 1 136 c.78G>T c.(76-78)cgG>cgT p.R26R NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 16 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CTCAGTTGCGGGACAACAGAA 0.458000 24 58 9.95505e-16 1.34499e-15 0.624587 1 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 6 157 0 0 0.217242 0 0 LIMCH1 22998 broad.mit.edu 37 4 41694357 41694357 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:41694357G>A ENST00000313860.7 + 26 3236 c.3182G>A c.(3181-3183)cGa>cAa p.R1061Q LIMCH1_ENST00000508501.1_Missense_Mutation_p.R1034Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R888Q|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R894Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R958Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R868Q|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R1445Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R1035Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R880Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R875Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R1047Q NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 1061 LIM zinc-binding. actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 GTTAGGATTCGAAATGGTCTC 0.428000 16 64 0 0 0.520397 0 0 FREM1 158326 broad.mit.edu 37 9 14776076 14776076 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr9:14776076C>A ENST00000380881.4 - 26 5386 c.4571G>T c.(4570-4572)gGc>gTc p.G1524V FREM1_ENST00000380894.1_Missense_Mutation_p.G59V|FREM1_ENST00000422223.2_Missense_Mutation_p.G1523V|FREM1_ENST00000380880.3_Missense_Mutation_p.G1523V Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1523 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GGAAAGCAGGCCCACGGCCCC 0.607000 38 120 8.16277e-20 1.14549e-19 0.827153 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460224 107460224 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:107460224C>A ENST00000409382.3 - 2 820 c.210G>T c.(208-210)ccG>ccT p.P70P ST6GAL2_ENST00000409087.3_Silent_p.P70P|ST6GAL2_ENST00000361686.4_Silent_p.P70P NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 70 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GGCCCCCAGGCGGGGAGGGCT 0.706000 16 34 1.52009e-12 1.98002e-12 0.479597 1 0 PLEKHF1 79156 broad.mit.edu 37 19 30165102 30165102 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:30165102G>A ENST00000436066.3 + 2 822 c.356G>A c.(355-357)cGc>cAc p.R119H PLEKHF1_ENST00000592810.1_Missense_Mutation_p.R119H NM_024310.4 NP_077286.3 Q96S99 PKHF1_HUMAN pleckstrin homology domain containing, family F (with FYVE domain) member 1 119 PH. apoptosis lysosome|nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|lung(3)|ovary(1)|prostate(1) 6 Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225) GCTACGGAGCGCCAGGAATGG 0.667000 4 41 0 0 0.150653 0 0 PEPD 5184 broad.mit.edu 37 19 33980911 33980911 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:33980911C>A ENST00000244137.6 - 6 527 c.494G>T c.(493-495)gGc>gTc p.G165V PEPD_ENST00000397032.4_Missense_Mutation_p.G165V|PEPD_ENST00000436370.3_Missense_Mutation_p.G101V NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 165 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) CTTGCTGATGCCGTCAAAGGA 0.612000 5 18 5.9392e-07 6.85708e-07 0.217242 1 0 TRAV26-2 28656 broad.mit.edu 37 14 22671163 22671163 + RNA SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:22671163G>T ENST00000390460.1 + 0 228 ACAACAGAATGGCCTCTCTGG 0.488000 12 41 3.07112e-06 3.48243e-06 0.387290 1 0 POLR3G 10622 broad.mit.edu 37 5 89783891 89783891 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:89783891G>C ENST00000399107.1 + 3 392 c.192G>C c.(190-192)ttG>ttC p.L64F POLR3G_ENST00000504930.1_Missense_Mutation_p.L64F|POLR3G_ENST00000514483.1_Missense_Mutation_p.L64F NM_006467.2 NP_006458.2 O15318 RPC7_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD) 64 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA-directed RNA polymerase activity cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1) 9 all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22) AACAGGAGTTGAGAGAAACAA 0.338000 15 72 0 0 0.500413 0 0 CPQ 10404 broad.mit.edu 37 8 97847327 97847327 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:97847327G>A ENST00000220763.5 + 3 770 c.560G>A c.(559-561)cGa>cAa p.R187Q NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 187 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GTGCAATACCGAACGCAGGGG 0.502000 15 74 0 0 0.500413 0 0 OR8J3 81168 broad.mit.edu 37 11 55905192 55905192 + Translation_Start_Site SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:55905192C>T ENST00000301529.1 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTTCAGGAGCCATGTCAGAGT 0.428000 27 53 0 0 0.681144 0 0 CNTN4 152330 broad.mit.edu 37 3 2944582 2944582 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:2944582G>T ENST00000397461.1 + 11 1484 c.1100G>T c.(1099-1101)gGa>gTa p.G367V CNTN4_ENST00000418658.1_Missense_Mutation_p.G367V|CNTN4_ENST00000358480.3_Missense_Mutation_p.G148V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.G367V|CNTN4_ENST00000397459.2_Missense_Mutation_p.G39V|CNTN4_ENST00000448906.2_Missense_Mutation_p.G39V NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 367 Ig-like C2-type 4. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTGAGCAAGGAACACTCAAC 0.363000 6 15 0.00116845 0.00122638 0.217242 1 0 NLRP11 204801 broad.mit.edu 37 19 56307481 56307481 + Silent SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:56307481G>T ENST00000443188.1 - 8 3017 c.2307C>A c.(2305-2307)gcC>gcA p.A769A NLRP11_ENST00000589824.2_Silent_p.A715A|NLRP11_ENST00000360133.3_Silent_p.A715A|NLRP11_ENST00000589093.1_Silent_p.A769A|NLRP11_ENST00000592953.1_Silent_p.A670A NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 769 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GATGAAGCAAGGCATCACACA 0.483000 72 257 1.37693e-34 2.01001e-34 0.870114 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188457 140188457 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:140188457C>T ENST00000530339.1 + 1 1685 c.1685C>T c.(1684-1686)gCg>gTg p.A562V PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A562V|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A562V NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACAACGCGCCAGCACTG 0.672000 27 62 0 0 0.681144 0 0 OR8K5 219453 broad.mit.edu 37 11 55927495 55927495 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:55927495T>A ENST00000313447.1 - 1 298 c.299A>T c.(298-300)cAg>cTg p.Q100L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GAATGCCAGCTGTGCAGCACA 0.408000 24 104 0 0 0.654019 0 0 FRMPD2 143162 broad.mit.edu 37 10 49448430 49448430 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:49448430C>T ENST00000374201.3 - 6 975 c.673G>A c.(673-675)Gcc>Acc p.A225T FRMPD2_ENST00000407470.4_Missense_Mutation_p.A194T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.A201T NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 225 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CACTCCGGGGCCTGTGCCGCT 0.582000 7 49 0 0 0.278610 0 0 TEX26 122046 broad.mit.edu 37 13 31513846 31513846 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:31513846G>T ENST00000380473.3 + 2 90 c.77G>T c.(76-78)tGg>tTg p.W26L NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 26 GACCCCAACTGGGATTCCTAT 0.358000 11 49 0.00136819 0.00143013 0.411799 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768313 77768313 + Silent SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:77768313G>C ENST00000521891.2 + 10 9604 c.9156G>C c.(9154-9156)ccG>ccC p.P3052P ZFHX4_ENST00000050961.6_Silent_p.P3007P|ZFHX4_ENST00000455469.2_Silent_p.P3007P|ZFHX4_ENST00000518282.1_Silent_p.P3026P NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3007 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3036P(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTGGCTCCGACCACGGTTC 0.507000 HNSCC(33;0.089) 12 149 0 0 0.457914 0 0 RPS6KB1 6198 broad.mit.edu 37 17 58018242 58018242 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:58018242C>G ENST00000225577.4 + 13 1186 c.1165C>G c.(1165-1167)Cag>Gag p.Q389E RPS6KB1_ENST00000393021.3_Missense_Mutation_p.Q336E|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.Q389E|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.Q366E NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2 NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1 P23443 KS6B1_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 1 389 AGC-kinase C-terminal. apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome ATP binding|protein binding|protein kinase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.57e-12)|all cancers(12;6.41e-11) GTTTACACGTCAGACACCTGT 0.358000 20 85 0 0 0.654019 0 0 CD200R1 131450 broad.mit.edu 37 3 112643994 112643994 + Silent SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:112643994G>T ENST00000471858.1 - 5 979 c.747C>A c.(745-747)atC>atA p.I249I CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Silent_p.I272I NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 249 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 TAATAGTAAGGATGATATATG 0.308000 10 34 2.17888e-05 2.35504e-05 0.335167 1 0 ZNF536 9745 broad.mit.edu 37 19 30935517 30935517 + Missense_Mutation SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:30935517T>G ENST00000355537.3 + 2 1195 c.1048T>G c.(1048-1050)Tgc>Ggc p.C350G NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTGCGAGGTGTGCGGTCAGGT 0.652000 56 150 0 0 0.870114 0 0 SAG 6295 broad.mit.edu 37 2 234238223 234238223 + Splice_Site SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:234238223G>T ENST00000409110.1 + 9 963 c.733_splice c.e9+1 p.V245_splice SAG_ENST00000449594.2_Splice_Site_p.V111_splice NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 245 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TAAAGCATTCGGTAGGACCTT 0.468000 16 19 6.31663e-08 7.6039e-08 0.479597 1 0 VPS13B 157680 broad.mit.edu 37 8 100866425 100866425 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:100866425C>T ENST00000358544.2 + 56 10994 c.10883C>T c.(10882-10884)gCg>gTg p.A3628V VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A3603V NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3628 protein transport p.A3628V(1)|p.A3603V(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCACCACTGCGAGGCAGCTT 0.557000 14 59 0 0 0.435327 0 0 ZDHHC1 29800 broad.mit.edu 37 16 67428917 67428917 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr16:67428917C>A ENST00000348579.2 - 10 1559 c.1218G>T c.(1216-1218)cgG>cgT p.R406R ZDHHC1_ENST00000566075.1_5'UTR NM_013304.2 NP_037436.1 Q8WTX9 ZDHC1_HUMAN zinc finger, DHHC-type containing 1 406 integral to membrane DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1) 10 Ovarian(137;0.223) UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022) GACGCCGGATCCGAGGTCTCA 0.632000 4 20 0.00909568 0.00924121 0.150653 1 0 TRBV6-6 28601 broad.mit.edu 37 7 142162211 142162211 + RNA SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:142162211C>T ENST00000390371.3 - 0 107 TGAGTGACACCAGCATTCACT 0.527000 21 62 0 0 0.575678 0 0 MUC16 94025 broad.mit.edu 37 19 9011464 9011464 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:9011464C>T ENST00000397910.4 - 36 38972 c.38769G>A c.(38767-38769)atG>atA p.M12923I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12925 SEA 6. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGATGGCATCCATTCCAGTGG 0.537000 15 130 0 0 0.539581 0 0 CA5B 11238 broad.mit.edu 37 X 15800702 15800702 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chrX:15800702G>T ENST00000318636.3 + 8 1005 c.869G>T c.(868-870)cGc>cTc p.R290L CA5B_ENST00000454127.2_Missense_Mutation_p.R290L NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 290 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) CTGATGAATCGCACTGTTCGT 0.493000 8 26 1.06961e-07 1.28152e-07 0.278610 1 0 NSUN5 55695 broad.mit.edu 37 7 72718748 72718748 + Nonsense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:72718748G>A ENST00000428206.1 - 6 650 c.637C>T c.(637-639)Caa>Taa p.Q213* NSUN5_ENST00000310326.8_Nonsense_Mutation_p.Q251*|NSUN5_ENST00000438747.2_Nonsense_Mutation_p.Q251*|NSUN5_ENST00000252594.6_Nonsense_Mutation_p.Q251* NM_001168348.1 NP_001161820.1 Q96P11 NSUN5_HUMAN NOP2/Sun domain family, member 5 251 methyltransferase activity breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Lung NSC(55;0.163) ACTCACCCTTGGTTCTTCAGA 0.557000 10 33 0 0 0.457914 0 0 OR1C1 26188 broad.mit.edu 37 1 247921189 247921189 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:247921189T>C ENST00000408896.2 - 1 793 c.520A>G c.(520-522)Atc>Gtc p.I174V NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAATGATGGATGATATTGGAG 0.478000 15 18 0 0 0.500413 0 0 MTRF1 9617 broad.mit.edu 37 13 41827091 41827091 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:41827091T>C ENST00000379480.4 - 4 683 c.583A>G c.(583-585)Act>Gct p.T195A MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.T208A|MTRF1_ENST00000379477.1_Missense_Mutation_p.T195A NM_004294.2 NP_004285.2 O75570 RF1M_HUMAN mitochondrial translational release factor 1 195 regulation of translational termination mitochondrion translation release factor activity, codon specific breast(1)|endometrium(4)|large_intestine(3)|lung(6) 14 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TGACCTCCAGTAGTCCTTCCA 0.313000 18 36 0 0 0.539581 0 0 EXOC6B 23233 broad.mit.edu 37 2 72562091 72562091 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:72562091G>T ENST00000272427.6 - 20 2311 c.2181C>A c.(2179-2181)ttC>ttA p.F727L EXOC6B_ENST00000490919.1_5'UTR NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 727 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TCAAGTCGATGAAGGCCAACT 0.458000 27 78 2.14196e-07 2.5305e-07 0.717897 1 0 PRDM10 56980 broad.mit.edu 37 11 129814722 129814722 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:129814722C>T ENST00000358825.5 - 6 937 c.706G>A c.(706-708)Gtg>Atg p.V236M PRDM10_ENST00000423662.2_Missense_Mutation_p.V150M|PRDM10_ENST00000304538.6_Missense_Mutation_p.V150M|PRDM10_ENST00000360871.3_Missense_Mutation_p.V236M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V150M|PRDM10_ENST00000528746.1_Missense_Mutation_p.V210M NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 236 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGCCCCTCCACGGGGCCAAAC 0.592000 16 117 0 0 0.479597 0 0 KRT32 3882 broad.mit.edu 37 17 39619225 39619225 + Silent SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:39619225G>T ENST00000225899.3 - 6 1177 c.1074C>A c.(1072-1074)atC>atA p.I358I NM_002278.3 NP_002269.3 Q14532 K1H2_HUMAN keratin 32 358 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(137;0.000812) CAACGTTGGTGATCATGCACT 0.632000 31 80 1.55811e-20 2.19867e-20 0.729181 1 0 YEATS2 55689 broad.mit.edu 37 3 183521783 183521783 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:183521783A>T ENST00000305135.5 + 27 3786 c.3591A>T c.(3589-3591)agA>agT p.R1197S NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1197 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGTGGCAAAGAGCAATGACAA 0.403000 29 63 0 0 0.729181 0 0 CLDND1 56650 broad.mit.edu 37 3 98235667 98235667 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:98235667G>C ENST00000503004.1 - 5 1477 c.598C>G c.(598-600)Cag>Gag p.Q200E CLDND1_ENST00000437922.1_Missense_Mutation_p.Q223E|CLDND1_ENST00000394185.2_Missense_Mutation_p.Q200E|CLDND1_ENST00000341181.6_Missense_Mutation_p.Q200E|CLDND1_ENST00000394181.2_Missense_Mutation_p.Q200E|CLDND1_ENST00000513287.1_Missense_Mutation_p.Q200E|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000511081.1_Missense_Mutation_p.Q105E|CLDND1_ENST00000510545.1_Missense_Mutation_p.Q200E|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000394180.2_Missense_Mutation_p.Q200E|CLDND1_ENST00000507874.1_Intron Q9NY35 CLDN1_HUMAN claudin domain containing 1 200 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 TCTAGTTTCTGGTGGAGTAGT 0.448000 17 35 0 0 0.539581 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180910 142180910 + RNA SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:142180910A>T ENST00000390368.2 - 0 106 ACCTGCCCACAGGAGAGACAA 0.582000 14 51 0 0 0.479597 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681304 125681304 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr9:125681304C>A ENST00000373656.3 - 2 983 c.910G>T c.(910-912)Ggc>Tgc p.G304C ZBTB26_ENST00000373654.1_Missense_Mutation_p.G304C NM_020924.2 NP_065975.1 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 AAAGTCTTGCCGCAGAGTAGA 0.458000 36 50 1.06647e-15 1.43325e-15 0.788014 1 0 OCA2 4948 broad.mit.edu 37 15 28263576 28263576 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:28263576G>T ENST00000354638.3 - 7 929 c.774C>A c.(772-774)gaC>gaA p.D258E OCA2_ENST00000382996.2_Missense_Mutation_p.D258E|OCA2_ENST00000353809.5_Missense_Mutation_p.D258E NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 258 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) AGCCCAAAGCGTCAGCCTGGG 0.547000 Oculocutaneous Albinism 7 39 0.0581538 0.0586153 0.335167 1 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 60 0 0 0.184627 0 0 GPR133 283383 broad.mit.edu 37 12 131498749 131498749 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:131498749C>T ENST00000261654.5 + 13 1896 c.1337C>T c.(1336-1338)gCg>gTg p.A446V GPR133_ENST00000376682.4_Missense_Mutation_p.A132V|GPR133_ENST00000535015.1_Missense_Mutation_p.A478V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 446 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCAAGGATCGCGGAGGCCATG 0.587000 9 51 0 0 0.361761 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17696895 17696895 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:17696895G>C ENST00000399080.2 - 1 2811 c.2788C>G c.(2788-2790)Caa>Gaa p.Q930E NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 930 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTTTCAAATTGATGATTAATA 0.313000 20 45 0 0 0.557998 0 0 TNFSF11 8600 broad.mit.edu 37 13 43155388 43155388 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:43155388T>A ENST00000398795.2 + 2 495 c.127T>A c.(127-129)Tgt>Agt p.C43S TNFSF11_ENST00000239849.6_Missense_Mutation_p.C116S|TNFSF11_ENST00000544862.1_Missense_Mutation_p.C43S|TNFSF11_ENST00000405262.2_Missense_Mutation_p.C43S|TNFSF11_ENST00000358545.2_Missense_Mutation_p.C43S NM_003701.3 NP_003692.1 O14788 TNF11_HUMAN tumor necrosis factor (ligand) superfamily, member 11 116 immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation cytoplasm|extracellular space|integral to plasma membrane cytokine activity|receptor activity|tumor necrosis factor receptor binding kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 10 Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073) ACCTGATTCATGTAGGAGAAT 0.403000 18 64 0 0 0.557998 0 0 FMO1 2326 broad.mit.edu 37 1 171251200 171251200 + Missense_Mutation SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:171251200A>G ENST00000354841.4 + 6 1042 c.911A>G c.(910-912)aAa>aGa p.K304R FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.K304R|FMO1_ENST00000402921.2_Missense_Mutation_p.K241R Q01740 FMO1_HUMAN flavin containing monooxygenase 1 304 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCAAGCATAAAAGAGGTAAAG 0.403000 20 77 0 0 0.557998 0 0 SLC41A2 84102 broad.mit.edu 37 12 105198953 105198953 + Nonsense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:105198953G>A ENST00000258538.3 - 10 1826 c.1699C>T c.(1699-1701)Cga>Tga p.R567* SLC41A2_ENST00000549713.1_5'UTR NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 567 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 TCTCCATCTCGATCTCCAATA 0.418000 24 294 0 0 0.667858 0 0 OR1D2 4991 broad.mit.edu 37 17 2995442 2995442 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:2995442C>T ENST00000331459.1 - 1 848 c.849G>A c.(847-849)atG>atA p.M283I NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 283 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 AGGGATTCATCATGGGTGTCA 0.473000 23 69 0 0 0.608945 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 45 0 0 0.150653 0 0 PLXNB2 23654 broad.mit.edu 37 22 50721182 50721182 + Missense_Mutation SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr22:50721182T>G ENST00000449103.1 - 18 3085 c.2945A>C c.(2944-2946)aAc>aCc p.N982T PLXNB2_ENST00000359337.4_Missense_Mutation_p.N982T O15031 PLXB2_HUMAN plexin B2 982 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CAGTACGGGGTTTTCGCGGTA 0.677000 5 14 0 0 0.278610 0 0 ADD3 120 broad.mit.edu 37 10 111878980 111878980 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:111878980G>T ENST00000277900.8 + 7 1094 c.729G>T c.(727-729)atG>atT p.M243I ADD3_ENST00000356080.4_Missense_Mutation_p.M243I|ADD3_ENST00000360162.3_Missense_Mutation_p.M243I NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 243 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TATCCTCCATGAAATGTGGGA 0.408000 18 53 1.45105e-14 1.93983e-14 0.539581 1 0 PPP1R12A 4659 broad.mit.edu 37 12 80266692 80266692 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:80266692C>A ENST00000450142.2 - 2 530 c.264G>T c.(262-264)atG>atT p.M88I PPP1R12A_ENST00000437004.2_Missense_Mutation_p.M88I|PPP1R12A_ENST00000546369.1_Start_Codon_SNP_p.M1I|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.M88I|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.M88I NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 88 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 GAAACTTCACCATATCAACAT 0.333000 12 21 3.07112e-06 3.48243e-06 0.387290 1 0 CAMKV 79012 broad.mit.edu 37 3 49897103 49897103 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:49897103C>T ENST00000477224.1 - 11 1632 c.1154G>A c.(1153-1155)aGt>aAt p.S385N CAMKV_ENST00000296471.7_Missense_Mutation_p.S357N|CAMKV_ENST00000463537.1_Missense_Mutation_p.V317M|CAMKV_ENST00000488336.1_Missense_Mutation_p.S354N|CAMKV_ENST00000467248.1_Missense_Mutation_p.S310N|CAMKV_ENST00000466940.1_Missense_Mutation_p.S311N Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 385 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGGGGTGGCACTACGGTCTGC 0.627000 39 62 0 0 0.819951 0 0 GPR83 10888 broad.mit.edu 37 11 94129565 94129565 + Splice_Site SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:94129565C>A ENST00000243673.2 - 2 684 c.513_splice c.e2+1 p.Q171_splice GPR83_ENST00000539203.2_Intron NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 171 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GTGCCCTCACCTGGTGGCGAT 0.547000 23 59 1.96895e-08 2.40439e-08 0.639603 1 0 PAPPA2 60676 broad.mit.edu 37 1 176709310 176709310 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:176709310G>T ENST00000367662.3 + 14 5293 c.4129G>T c.(4129-4131)Ggg>Tgg p.G1377W NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1377 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G1377W(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGAGGACGAGGGGCAGAATCA 0.478000 18 34 6.94344e-10 8.64527e-10 0.539581 1 0 ARID1A 8289 broad.mit.edu 37 1 27106648 27106648 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:27106648G>A ENST00000324856.7 + 20 6630 c.6259G>A c.(6259-6261)Gga>Aga p.G2087R ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R|ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2087 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G2087R(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGTCCTGGACGGACTCCTACA 0.592000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 32 38 0 0 0.740014 0 0 MYLK 4638 broad.mit.edu 37 3 123452802 123452802 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:123452802C>T ENST00000360772.3 - 11 1419 c.1041G>A c.(1039-1041)ctG>ctA p.L347L MYLK_ENST00000360304.3_Silent_p.L347L|MYLK_ENST00000359169.1_Silent_p.L347L|MYLK_ENST00000346322.5_Silent_p.L347L|MYLK_ENST00000475616.1_Silent_p.L347L Q15746 MYLK_HUMAN myosin light chain kinase 347 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TTGCGGCCTGCAGGGTGATGG 0.632000 36 111 0 0 0.870114 0 0 SULT1C3 442038 broad.mit.edu 37 2 108863744 108863744 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:108863744T>C ENST00000329106.2 + 1 94 c.94T>C c.(94-96)Tca>Cca p.S32P SULT1C3_ENST00000376700.1_Missense_Mutation_p.S32P NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 32 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GTTGATATTATCAAAAGAATG 0.393000 31 108 0 0 0.740014 0 0 PUM2 23369 broad.mit.edu 37 2 20483205 20483205 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:20483205C>A ENST00000361078.2 - 10 1356 c.1334G>T c.(1333-1335)gGt>gTt p.G445V PUM2_ENST00000536417.1_Missense_Mutation_p.G389V|PUM2_ENST00000319801.5_Missense_Mutation_p.G445V|PUM2_ENST00000403432.1_Missense_Mutation_p.G445V|PUM2_ENST00000338086.5_Missense_Mutation_p.G445V Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 445 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTAAGGCACCAGTCTGATC 0.418000 24 60 1.75199e-13 2.31773e-13 0.717897 1 0 SARM1 23098 broad.mit.edu 37 17 26712168 26712168 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:26712168A>T ENST00000457710.3 + 5 1873 c.1402A>T c.(1402-1404)Acc>Tcc p.T468S SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 502 SAM 1. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) CCGCCAGTACACCTACGGCCT 0.672000 7 29 0 0 0.248553 0 0 CHSY3 337876 broad.mit.edu 37 5 129520888 129520888 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:129520888G>A ENST00000305031.4 + 3 2411 c.2053G>A c.(2053-2055)Gaa>Aaa p.E685K NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 685 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) CCCCAAAGCAGAAATGACCCT 0.438000 20 53 0 0 0.557998 0 0 SGSM2 9905 broad.mit.edu 37 17 2274591 2274591 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:2274591C>T ENST00000268989.3 + 13 1636 c.1459C>T c.(1459-1461)Ccc>Tcc p.P487S SGSM2_ENST00000426855.2_Missense_Mutation_p.P442S|SGSM2_ENST00000574563.1_Missense_Mutation_p.P442S NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 442 intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GGGCTTTGGGCCCAGCCTGCC 0.662000 15 25 0 0 0.479597 0 0 APAF1 317 broad.mit.edu 37 12 99042414 99042414 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:99042414A>T ENST00000357310.1 + 3 726 c.149A>T c.(148-150)cAg>cTg p.Q50L APAF1_ENST00000547045.1_Missense_Mutation_p.Q50L|APAF1_ENST00000547743.1_Missense_Mutation_p.Q50L|APAF1_ENST00000550527.1_Missense_Mutation_p.Q50L|APAF1_ENST00000551964.1_Missense_Mutation_p.Q50L|APAF1_ENST00000549007.1_Missense_Mutation_p.Q50L|APAF1_ENST00000339433.3_Missense_Mutation_p.Q50L|APAF1_ENST00000552268.1_Missense_Mutation_p.Q50L|APAF1_ENST00000359972.2_Missense_Mutation_p.Q50L|APAF1_ENST00000333991.1_Missense_Mutation_p.Q50L NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 50 CARD. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CCCACTCAACAGCAAAGAGCA 0.303000 22 53 0 0 0.608945 0 0 CLIP1 6249 broad.mit.edu 37 12 122826024 122826024 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:122826024T>C ENST00000358808.2 - 10 1848 c.1694A>G c.(1693-1695)cAt>cGt p.H565R CLIP1_ENST00000545889.1_Missense_Mutation_p.H266R|CLIP1_ENST00000540338.1_Missense_Mutation_p.H576R|CLIP1_ENST00000537178.1_Missense_Mutation_p.H530R|CLIP1_ENST00000361654.4_Missense_Mutation_p.H530R|CLIP1_ENST00000302528.7_Missense_Mutation_p.H565R NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 576 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GGCTCCAAAATGCTCCTTCAG 0.443000 51 270 0 0 0.870114 0 0 APOH 350 broad.mit.edu 37 17 64208278 64208278 + Silent SNP A A C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:64208278A>C ENST00000205948.6 - 8 1048 c.1011T>G c.(1009-1011)acT>acG p.T337T NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 337 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) CGGATGCATCAGTTTTCCAAA 0.358000 9 65 0 0 0.307466 0 0 FN3KRP 79672 broad.mit.edu 37 17 80676808 80676808 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:80676808G>T ENST00000269373.6 + 2 241 c.168G>T c.(166-168)atG>atT p.M56I FN3KRP_ENST00000535965.1_Missense_Mutation_p.M6I NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 56 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) AAGGTGAGATGGCAAGTTTAA 0.502000 51 88 2.59344e-38 3.80772e-38 0.870114 1 0 PCDHGC4 56098 broad.mit.edu 37 5 140865903 140865903 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:140865903G>A ENST00000306593.1 + 1 1163 c.1163G>A c.(1162-1164)cGc>cAc p.R388H PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCCTCCGCATTCCTGAC 0.557000 15 46 0 0 0.479597 0 0 TTN 7273 broad.mit.edu 37 2 179451529 179451529 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:179451529G>T ENST00000589042.1 - 308 64323 c.64099C>A c.(64099-64101)Ccg>Acg p.P21367T TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12494T|TTN_ENST00000460472.2_Missense_Mutation_p.P12302T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18799T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12427T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19726T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19726 Ig-like 113. 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) GGGGGATCCGGCTCACCTAGA 0.413000 24 83 4.4004e-07 5.10366e-07 0.654019 1 0 CCDC148 130940 broad.mit.edu 37 2 159170350 159170350 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:159170350T>C ENST00000283233.5 - 8 1134 c.821A>G c.(820-822)tAc>tGc p.Y274C CCDC148_ENST00000536771.1_Missense_Mutation_p.Y188C|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y283C NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 274 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ATCTCCAGGGTACTGATCCAA 0.393000 24 52 0 0 0.667858 0 0 OR5D13 390142 broad.mit.edu 37 11 55541676 55541676 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:55541676G>C ENST00000361760.1 + 1 763 c.763G>C c.(763-765)Gga>Cga p.G255R NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TATCTTCCATGGAACTATCCT 0.443000 23 52 0 0 0.624587 0 0 DSTN 11034 broad.mit.edu 37 20 17581671 17581671 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:17581671G>C ENST00000246069.6 + 2 638 c.292G>C c.(292-294)Gag>Cag p.E98Q DSTN_ENST00000543261.1_Missense_Mutation_p.E81Q|DSTN_ENST00000474024.1_3'UTR NM_006870.3 NP_006861.1 P60981 DEST_HUMAN destrin (actin depolymerizing factor) 98 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding endometrium(1)|large_intestine(5)|lung(8)|skin(1) 15 CAGAAAAGAAGAGTTGATGTT 0.368000 17 78 0 0 0.520397 0 0 IMPDH1 3614 broad.mit.edu 37 7 128040196 128040196 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:128040196C>A ENST00000338791.6 - 9 1177 c.827G>T c.(826-828)gGt>gTt p.G276V IMPDH1_ENST00000343214.4_Missense_Mutation_p.G166V|IMPDH1_ENST00000480861.1_Missense_Mutation_p.G186V|IMPDH1_ENST00000419067.2_Missense_Mutation_p.G243V|IMPDH1_ENST00000378717.4_Missense_Mutation_p.G207V|IMPDH1_ENST00000354269.5_Missense_Mutation_p.G266V|IMPDH1_ENST00000496200.1_Missense_Mutation_p.G166V|IMPDH1_ENST00000348127.6_Missense_Mutation_p.G240V|IMPDH1_ENST00000470772.1_Missense_Mutation_p.G190V NM_000883.3 NP_000874.2 P20839 IMDH1_HUMAN IMP (inosine 5'-monophosphate) dehydrogenase 1 191 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3) 22 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CAACGTCACACCTGCTGGAGC 0.562000 44 179 4.64027e-19 6.44059e-19 0.870114 1 0 LHCGR 3973 broad.mit.edu 37 2 48950765 48950765 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:48950765T>C ENST00000294954.7 - 5 475 c.454A>G c.(454-456)Att>Gtt p.I152V STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.I152V|LHCGR_ENST00000401907.1_Missense_Mutation_p.I152V|LHCGR_ENST00000344775.3_Missense_Mutation_p.I152V|LHCGR_ENST00000403273.1_Missense_Mutation_p.I152V NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 152 I -> T (in LHR; reveals a marked impairment of human chorionic gonadotropin binding and signal transduction). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ACTTACAGAATGAAATTTGAT 0.383000 28 81 0 0 0.740014 0 0 TRIM27 5987 broad.mit.edu 37 6 28872087 28872087 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr6:28872087C>A ENST00000377199.3 - 8 1658 c.1302G>T c.(1300-1302)caG>caT p.Q434H TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 434 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TCCCCACCCGCTGGAGCGGGG 0.532000 T RET papillary thyroid 44 112 5.37117e-13 7.0688e-13 0.870114 1 0 PCDHB13 56123 broad.mit.edu 37 5 140594323 140594323 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:140594323A>T ENST00000341948.4 + 1 815 c.628A>T c.(628-630)Agg>Tgg p.R210W NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 210 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTGAGCTCAGGTTAACACT 0.547000 7 57 0 0 0.278610 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713288 70713288 + RNA SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:70713288T>A ENST00000530196.1 - 0 1230 NR_003951.1 GTATTCATGATGCAACCTCTT 0.428000 45 208 0 0 0.864702 0 0 SSTR1 6751 broad.mit.edu 37 14 38679155 38679155 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:38679155C>T ENST00000267377.2 + 3 1178 c.561C>T c.(559-561)ctC>ctT p.L187L NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 187 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TATCGCTGCTCGTCATCCTGC 0.662000 10 38 0 0 0.387290 0 0 DDHD1 80821 broad.mit.edu 37 14 53529739 53529739 + Missense_Mutation SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:53529739T>G ENST00000357758.3 - 7 1871 c.1688A>C c.(1687-1689)gAa>gCa p.E563A DDHD1_ENST00000323669.5_Missense_Mutation_p.E563A|DDHD1_ENST00000395606.1_Missense_Mutation_p.E570A NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 563 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) CAACTCTTCTTCCTTTTGCAG 0.383000 48 114 0 0 0.870114 0 0 PIGS 94005 broad.mit.edu 37 17 26888589 26888589 + Missense_Mutation SNP C C T rs138187632 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:26888589C>T ENST00000308360.7 - 6 902 c.527G>A c.(526-528)cGg>cAg p.R176Q PIGS_ENST00000395346.2_Missense_Mutation_p.R168Q|PIGS_ENST00000543734.1_Missense_Mutation_p.R115Q|PIGS_ENST00000465444.1_5'UTR NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 176 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) AAAGGCCTCCCGGTGCATTAT 0.572000 11 17 0 0 0.387290 0 0 NAV2 89797 broad.mit.edu 37 11 20113762 20113762 + Missense_Mutation SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:20113762A>G ENST00000396085.1 + 29 6033 c.5672A>G c.(5671-5673)gAg>gGg p.E1891G NAV2_ENST00000396087.3_Missense_Mutation_p.E1947G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1824G|NAV2_ENST00000349880.4_Missense_Mutation_p.E1888G|NAV2_ENST00000540292.1_Missense_Mutation_p.E1878G|NAV2_ENST00000311043.8_Missense_Mutation_p.E952G|NAV2_ENST00000533917.1_Missense_Mutation_p.E952G|NAV2_ENST00000527559.2_Missense_Mutation_p.E1876G NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1947 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGTGAAATAGAGAAGCTGAAA 0.498000 33 69 0 0 0.779181 0 0 ROCK2 9475 broad.mit.edu 37 2 11355773 11355773 + Splice_Site SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:11355773T>G ENST00000315872.6 - 14 1910 c.e14-2 ROCK2_ENST00000401753.1_Splice_Site NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TAAGGTAATCTGAAATAATGC 0.299000 11 30 0 0 0.361761 0 0 TBX3 6926 broad.mit.edu 37 12 115114207 115114207 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:115114207T>C ENST00000349155.2 - 5 1913 c.950A>G c.(949-951)gAt>gGt p.D317G TBX3_ENST00000257566.3_Missense_Mutation_p.D337G NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 337 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) GGAGGACTCATCAGAGGTCCC 0.512000 35 67 0 0 0.804634 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634960 70634960 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:70634960C>A ENST00000381269.2 - 2 933 c.180G>T c.(178-180)ctG>ctT p.L60L SLC8A3_ENST00000528359.1_Silent_p.L60L|SLC8A3_ENST00000534137.1_Silent_p.L60L|SLC8A3_ENST00000356921.2_Silent_p.L60L|SLC8A3_ENST00000357887.3_Silent_p.L60L NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 60 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ACCAGATTGGCAGGATGACAC 0.552000 13 24 0.000151284 0.000160779 0.435327 1 0 CROT 54677 broad.mit.edu 37 7 87022269 87022269 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:87022269G>T ENST00000331536.3 + 17 1789 c.1604G>T c.(1603-1605)gGa>gTa p.G535V CROT_ENST00000442291.1_Missense_Mutation_p.G535V|CROT_ENST00000419147.2_Missense_Mutation_p.G563V NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 535 Poly-Gly. fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CACAGCGGAGGAGGTGGAAAT 0.383000 39 154 1.96642e-18 2.71451e-18 0.827153 1 0 MTMR11 10903 broad.mit.edu 37 1 149906417 149906417 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:149906417C>A ENST00000439741.2 - 6 721 c.471G>T c.(469-471)gtG>gtT p.V157V MTMR11_ENST00000369140.3_Silent_p.V85V|MTMR11_ENST00000406732.3_Silent_p.V129V|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.V157V NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 157 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TGGCCATGGTCACCTGCAGAG 0.493000 15 49 1.49906e-05 1.64121e-05 0.457914 1 0 PCOLCE2 26577 broad.mit.edu 37 3 142542444 142542444 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:142542444G>A ENST00000295992.3 - 7 1185 c.879C>T c.(877-879)acC>acT p.T293T PCOLCE2_ENST00000485766.1_Intron NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 293 extracellular region collagen binding|heparin binding|peptidase activator activity NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 ACAAGGCCACGGTGGGTTTTA 0.363000 24 56 0 0 0.654019 0 0 F5 2153 broad.mit.edu 37 1 169511240 169511240 + Nonsense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:169511240G>A ENST00000367796.3 - 13 3304 c.3103C>T c.(3103-3105)Cga>Tga p.R1035* F5_ENST00000367797.3_Nonsense_Mutation_p.R1030* P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1030 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTCTTTTTTCGTGTCTTAATG 0.408000 103 200 0 0 0.870114 0 0 UNK 85451 broad.mit.edu 37 17 73780814 73780814 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:73780814C>T ENST00000293218.3 + 2 81 c.81C>T c.(79-81)gaC>gaT p.D27D H3F3B_ENST00000586607.1_Intron Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding p.D27E(2) cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCAGCCGGACATAGAACCAC 0.642000 11 22 0 0 0.435327 0 0 FAM111A 63901 broad.mit.edu 37 11 58920495 58920495 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:58920495G>T ENST00000528737.1 + 5 4172 c.1354G>T c.(1354-1356)Gta>Tta p.V452L FAM111A_ENST00000531147.1_Missense_Mutation_p.V452L|FAM111A_ENST00000420244.1_Missense_Mutation_p.V452L|FAM111A_ENST00000533703.1_Missense_Mutation_p.V452L|FAM111A_ENST00000361723.3_Missense_Mutation_p.V452L Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 452 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) TGGACAACAAGTACCTATGGA 0.368000 18 65 3.52763e-06 3.96468e-06 0.520397 1 0 AK9 221264 broad.mit.edu 37 6 109871392 109871392 + Silent SNP G G A rs138836954 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr6:109871392G>A ENST00000424296.2 - 25 2941 c.2865C>T c.(2863-2865)gcC>gcT p.A955A AK9_ENST00000341338.6_Silent_p.A34A|AK9_ENST00000355283.1_Silent_p.A34A NM_001145128.2 NP_001138600.2 adenylate kinase 9 CTCGATACTTGGCTGCTTCTT 0.428000 42 69 0 0 0.827153 0 0 BTBD3 22903 broad.mit.edu 37 20 11900381 11900381 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:11900381G>T ENST00000405977.1 + 4 1058 c.433G>T c.(433-435)Ggg>Tgg p.G145W BTBD3_ENST00000378226.2_Missense_Mutation_p.G145W|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.G84W|BTBD3_ENST00000399006.2_Missense_Mutation_p.G84W Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 145 BTB. breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 TTTAGCTGTTGGGAGCTCTGT 0.408000 29 79 1.75199e-13 2.31773e-13 0.717897 1 0 OR2A25 392138 broad.mit.edu 37 7 143771421 143771421 + Missense_Mutation SNP A A C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:143771421A>C ENST00000408898.2 + 1 147 c.109A>C c.(109-111)Att>Ctt p.I37L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTACATCTTCATTCTGTTGGG 0.522000 35 78 0 0 0.769981 0 0 OR10G7 390265 broad.mit.edu 37 11 123909361 123909361 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:123909361G>A ENST00000330487.5 - 1 356 c.348C>T c.(346-348)gtC>gtT p.V116V NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CATAGGACATGACTGTGTAGA 0.572000 48 99 0 0 0.870114 0 0 NOS2 4843 broad.mit.edu 37 17 26086080 26086080 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:26086080G>A ENST00000313735.6 - 26 3414 c.3181C>T c.(3181-3183)Cgg>Tgg p.R1061W NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 1061 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) AGCTGCTGCCGCAGGATGTCC 0.622000 8 17 0 0 0.307466 0 0 EDAR 10913 broad.mit.edu 37 2 109547447 109547447 + Silent SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:109547447C>G ENST00000409271.1 - 3 467 c.24G>C c.(22-24)acG>acC p.T8T EDAR_ENST00000258443.2_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 8 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGGGCGTCTGCGTGCAGTCCC 0.627000 30 92 0 0 0.750413 0 0 GOLGA6L6 727832 broad.mit.edu 37 15 20743796 20743796 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:20743796C>T ENST00000427390.2 - 4 498 c.408G>A c.(406-408)acG>acA p.T136T NM_001145004.1 NP_001138476.1 A8MZA4 GG6L6_HUMAN golgin A6 family-like 6 136 p.T136T(1) NS(3)|endometrium(4)|kidney(1)|skin(3) 11 TTTTCTGACACGTAAGGATTC 0.493000 4 47 0 0 0.150653 0 0 BAG3 9531 broad.mit.edu 37 10 121431866 121431866 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr10:121431866C>T ENST00000369085.3 + 3 913 c.607C>T c.(607-609)Cgg>Tgg p.R203W NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 203 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) CCAGCTCCCGCGGGGGTACAT 0.652000 14 67 0 0 0.435327 0 0 PMS2P4 5382 broad.mit.edu 37 7 66764327 66764327 + RNA SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:66764327G>C ENST00000414507.1 - 0 128 TCACCGCAGTGCTTAGACTCA 0.453000 106 301 0 0 0.870114 0 0 SLC12A7 10723 broad.mit.edu 37 5 1065452 1065452 + Missense_Mutation SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:1065452A>T ENST00000264930.5 - 18 2426 c.2383T>A c.(2383-2385)Tgg>Agg p.W795R NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 795 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GATGCGGGCCAGGCCATGAGC 0.657000 24 57 0 0 0.624587 0 0 COL6A2 1292 broad.mit.edu 37 21 47546443 47546443 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr21:47546443C>T ENST00000300527.4 + 27 2553 c.2449C>T c.(2449-2451)Ccc>Tcc p.P817S COL6A2_ENST00000397763.1_Missense_Mutation_p.P817S|COL6A2_ENST00000357838.4_Missense_Mutation_p.P817S|COL6A2_ENST00000409416.1_Missense_Mutation_p.P817S|COL6A2_ENST00000310645.5_Missense_Mutation_p.P817S NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 817 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCCAGACCTTCCCTGCCAAAC 0.652000 91 71 0 0 0.870114 0 0 ASB2 51676 broad.mit.edu 37 14 94417386 94417386 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:94417386T>C ENST00000555019.1 - 6 1269 c.839A>G c.(838-840)cAg>cGg p.Q280R ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.Q232R NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 232 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTGTCCACTCTGGGCGGCCAC 0.587000 82 199 0 0 0.870114 0 0 PARP10 84875 broad.mit.edu 37 8 145057451 145057451 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:145057451G>A ENST00000313028.7 - 8 2400 c.2306C>T c.(2305-2307)aCc>aTc p.T769I PARP10_ENST00000524918.1_Missense_Mutation_p.T760I|PARP10_ENST00000525773.1_Missense_Mutation_p.T781I NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 769 Myc binding. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACGGAGGATGGTGCAGTCACC 0.682000 5 19 0 0 0.184627 0 0 OR2G2 81470 broad.mit.edu 37 1 247752427 247752427 + Nonsense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:247752427G>T ENST00000320065.1 + 1 766 c.766G>T c.(766-768)Gga>Tga p.G256* RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) catcttttatggaaccatcat 0.493000 57 82 3.53049e-34 5.12425e-34 0.870114 1 0 LRRC49 54839 broad.mit.edu 37 15 71185957 71185957 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:71185957C>T ENST00000260382.5 + 2 343 c.83C>T c.(82-84)tCa>tTa p.S28L LRRC49_ENST00000560369.1_Missense_Mutation_p.S28L|LRRC49_ENST00000443425.2_5'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.S18L NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 28 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 ATTCAAACATCATCGCTTCCT 0.294000 12 47 0 0 0.457914 0 0 KGFLP2 654466 broad.mit.edu 37 9 41962602 41962602 + RNA SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr9:41962602G>T ENST00000454645.1 - 0 902 NR_003670.1 TTCTTTCTTTGTTTTTTTTCC 0.373000 6 44 1.12685e-05 1.23905e-05 0.307466 1 0 KDM5C 8242 broad.mit.edu 37 X 53228025 53228025 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chrX:53228025C>A ENST00000452825.3 - 14 2620 c.2088G>T c.(2086-2088)ctG>ctT p.L696L KDM5C_ENST00000375379.3_Silent_p.L763L|KDM5C_ENST00000375383.3_Silent_p.L722L|KDM5C_ENST00000375401.3_Silent_p.L763L|KDM5C_ENST00000404049.3_Silent_p.L762L NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 763 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CCCGAACCTTCAGCTTATGCA 0.587000 """N, F, S""" clear cell renal carcinoma 9 56 3.09899e-07 3.61074e-07 0.307466 1 0 ATP8B4 79895 broad.mit.edu 37 15 50339591 50339591 + Missense_Mutation SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:50339591T>C ENST00000284509.6 - 4 299 c.158A>G c.(157-159)cAa>cGa p.Q53R ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q53R NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 53 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCCACTCTTTGGAACTGTTC 0.299000 10 46 0 0 0.411799 0 0 OR2L2 26246 broad.mit.edu 37 1 248201902 248201902 + Silent SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:248201902G>T ENST00000366479.2 + 1 429 c.333G>T c.(331-333)ggG>ggT p.G111G OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGCAGAAGGGCTGCTCCTGA 0.418000 50 180 2.52991e-16 3.43634e-16 0.870114 1 0 HS6ST3 266722 broad.mit.edu 37 13 97485168 97485168 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:97485168C>G ENST00000376705.2 + 2 1156 c.1132C>G c.(1132-1134)Cag>Gag p.Q378E NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 378 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) CCCCTTCACACAGTTCAACAT 0.498000 27 81 0 0 0.667858 0 0 MROH9 80133 broad.mit.edu 37 1 170928657 170928657 + Silent SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:170928657C>A ENST00000367759.4 + 5 361 c.207C>A c.(205-207)tcC>tcA p.S69S MROH9_ENST00000367758.3_Silent_p.S69S NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TAGAGTCATCCTTTGGAATGC 0.353000 8 70 1.12685e-05 1.23905e-05 0.307466 1 0 OR6F1 343169 broad.mit.edu 37 1 247875472 247875472 + Nonsense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:247875472C>A ENST00000302084.2 - 1 633 c.586G>T c.(586-588)Gag>Tag p.E196* RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCCACAAGCTCTACTGCCTGT 0.532000 59 95 3.89483e-19 5.43564e-19 0.870114 1 0 NYAP2 57624 broad.mit.edu 37 2 226516174 226516174 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:226516174C>T ENST00000272907.6 + 6 2268 c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 619 CAAATTAGGCCGGTCTGCGTC 0.493000 9 197 0 0 0.307466 0 0 FAM227B 196951 broad.mit.edu 37 15 49800505 49800505 + Silent SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:49800505C>G ENST00000299338.6 - 11 1218 c.915G>C c.(913-915)ctG>ctC p.L305L FAM227B_ENST00000561064.1_Silent_p.L271L NM_152647.2 NP_689860.2 family with sequence similarity 227, member B AGAGTTCTTTCAGTTTCCAGT 0.318000 26 69 0 0 0.706142 0 0 PDE10A 10846 broad.mit.edu 37 6 165808737 165808737 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr6:165808737C>A ENST00000366882.1 - 16 1562 c.1408G>T c.(1408-1410)Ggt>Tgt p.G470C PDE10A_ENST00000539869.2_Missense_Mutation_p.G480C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G470C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 470 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding p.G470C(1) breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TCAAAAGGACCAATGTCAAAG 0.333000 8 22 0.00448238 0.00460941 0.307466 1 0 AMER2 219287 broad.mit.edu 37 13 25743844 25743844 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:25743844T>A ENST00000357816.2 - 3 2032 c.1557A>T c.(1555-1557)aaA>aaT p.K519N AMER2_ENST00000381853.3_Missense_Mutation_p.K519N|AMER2_ENST00000515384.1_Missense_Mutation_p.K638N APC membrane recruitment protein 2 AAACCGGGATTTTTGTTCTGG 0.552000 28 97 0 0 0.693898 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15882034 15882034 + RNA SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:15882034C>A ENST00000587443.2 - 0 863 NR_033864.1 GCACTGAGCTCCAAGATGGTA 0.527000 15 34 1.15088e-07 1.37241e-07 0.500413 1 0 VGLL4 9686 broad.mit.edu 37 3 11600212 11600212 + Missense_Mutation SNP C C G rs147755206 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:11600212C>G ENST00000273038.3 - 6 1056 c.691G>C c.(691-693)Gtg>Ctg p.V231L VGLL4_ENST00000430365.2_Missense_Mutation_p.V237L|VGLL4_ENST00000451674.2_Missense_Mutation_p.V151L|VGLL4_ENST00000404339.1_Missense_Mutation_p.V236L|VGLL4_ENST00000424529.2_Missense_Mutation_p.V147L|VGLL4_ENST00000413604.1_Missense_Mutation_p.V172L NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) GTGATGGACACGGAGTTGGGT 0.627000 42 63 0 0 0.853193 0 0 SEC24D 9871 broad.mit.edu 37 4 119718857 119718857 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:119718857G>A ENST00000379735.5 - 8 1296 c.1025C>T c.(1024-1026)gCc>gTc p.A342V SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.A341V NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 341 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 AGGAATGGTGGCAAAGGGCTT 0.348000 27 67 0 0 0.717897 0 0 ATP8A2 51761 broad.mit.edu 37 13 26116088 26116088 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr13:26116088G>T ENST00000381655.2 + 9 825 c.683G>T c.(682-684)cGt>cTt p.R228L ATP8A2_ENST00000255283.8_Missense_Mutation_p.R188L NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 188 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) ATGCAAACACGTGAAGTTCTG 0.433000 20 68 0.00887093 0.00904906 0.575678 1 0 IL15 3600 broad.mit.edu 37 4 142640546 142640546 + Translation_Start_Site SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr4:142640546G>A ENST00000477265.1 + 0 4737 IL15_ENST00000514653.1_De_novo_Start_OutOfFrame|IL15_ENST00000529613.1_De_novo_Start_OutOfFrame|IL15_ENST00000296545.7_De_novo_Start_OutOfFrame|IL15_ENST00000320650.4_De_novo_Start_OutOfFrame P40933 IL15_HUMAN interleukin 15 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_hematologic(180;0.158) ATTGTGGATGGATGGCTGCTG 0.378000 9 18 0 0 0.307466 0 0 AURKC 6795 broad.mit.edu 37 19 57743553 57743553 + Missense_Mutation SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr19:57743553A>G ENST00000302804.7 + 3 443 c.257A>G c.(256-258)cAc>cGc p.H86R AURKC_ENST00000448930.1_Missense_Mutation_p.H52R|AURKC_ENST00000599062.1_Missense_Mutation_p.H83R|AURKC_ENST00000598785.1_Missense_Mutation_p.H52R|AURKC_ENST00000415300.2_Missense_Mutation_p.H67R NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 86 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GGACTGGAGCACCAGCTGCGC 0.498000 12 45 0 0 0.457914 0 0 HJURP 55355 broad.mit.edu 37 2 234750291 234750291 + Missense_Mutation SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:234750291C>T ENST00000411486.2 - 8 1200 c.1135G>A c.(1135-1137)Gtg>Atg p.V379M HJURP_ENST00000441687.1_Missense_Mutation_p.V294M|HJURP_ENST00000432087.1_Missense_Mutation_p.V325M NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 379 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GAGGGTGTCACTTTGCGCTCC 0.368000 26 62 0 0 0.667858 0 0 KCNS2 3788 broad.mit.edu 37 8 99441351 99441351 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:99441351C>A ENST00000287042.4 + 2 1494 c.1144C>A c.(1144-1146)Cca>Aca p.P382T KCNS2_ENST00000521839.1_Missense_Mutation_p.P382T NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 382 voltage-gated potassium channel complex voltage-gated potassium channel activity autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GGATGTGGTCCCAGGGACCAC 0.592000 21 115 3.51602e-12 4.55647e-12 0.575678 1 0 KIF4B 285643 broad.mit.edu 37 5 154394386 154394386 + Missense_Mutation SNP A A G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:154394386A>G ENST00000435029.4 + 1 1127 c.967A>G c.(967-969)Aca>Gca p.T323A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 323 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCTAGAGGAAACATTAAGTAC 0.413000 42 209 0 0 0.853193 0 0 OGFR 11054 broad.mit.edu 37 20 61444194 61444194 + Silent SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:61444194G>A ENST00000370461.1 + 5 3348 c.1071G>A c.(1069-1071)aaG>aaA p.K357K OGFR_ENST00000370468.3_Silent_p.K409K|OGFR_ENST00000290291.6_Silent_p.K409K Q9NZT2 OGFR_HUMAN opioid growth factor receptor 409 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) AGGTGGAGAAGATCGCTCTGA 0.652000 11 40 0 0 0.387290 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140802012 140802012 + Silent SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:140802012A>T ENST00000398587.2 + 1 1251 c.1218A>T c.(1216-1218)atA>atT p.I406I PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.I406I|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAATTGATAACAAGCAGAG 0.413000 11 67 0 0 0.361761 0 0 DCAF10 79269 broad.mit.edu 37 9 37857288 37857288 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr9:37857288T>A ENST00000377724.3 + 5 1470 c.1105T>A c.(1105-1107)Tgt>Agt p.C369S DCAF10_ENST00000242323.7_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_Intron NM_024345.3 NP_077321.3 Q5QP82 DCA10_HUMAN DDB1 and CUL4 associated factor 10 369 Ser-rich. CUL4 RING ubiquitin ligase complex central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 12 TGGCTCACCTTGTCATCATAG 0.348000 36 146 0 0 0.840704 0 0 LRP1 4035 broad.mit.edu 37 12 57573898 57573898 + Missense_Mutation SNP T T G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:57573898T>G ENST00000243077.3 + 31 5676 c.5210T>G c.(5209-5211)cTc>cGc p.L1737R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1737 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CGCACCCTGCTCTTCAGTGGC 0.612000 54 145 0 0 0.870114 0 0 RNF139 11236 broad.mit.edu 37 8 125487455 125487455 + Missense_Mutation SNP C C A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:125487455C>A ENST00000303545.3 + 1 477 c.105C>A c.(103-105)gaC>gaA p.D35E NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 35 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ACATCATCGACGCCATCTTCA 0.637000 9 105 1.58986e-06 1.81903e-06 0.361761 1 0 KLHL12 59349 broad.mit.edu 37 1 202863732 202863732 + Silent SNP C C T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:202863732C>T ENST00000367261.3 - 9 1499 c.1281G>A c.(1279-1281)gtG>gtA p.V427V KLHL12_ENST00000435533.3_Silent_p.V465V|KLHL12_ENST00000367259.1_Silent_p.V160V NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 427 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GACAGTAGATCACTCCACTGG 0.512000 53 157 0 0 0.870114 0 0 MAP1B 4131 broad.mit.edu 37 5 71493280 71493280 + Silent SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:71493280T>C ENST00000296755.7 + 5 4396 c.4098T>C c.(4096-4098)agT>agC p.S1366S NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1366 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TTGAATTCAGTGATGCCAAAG 0.443000 21 61 0 0 0.681144 0 0 RXRG 6258 broad.mit.edu 37 1 165386317 165386317 + Missense_Mutation SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:165386317G>A ENST00000359842.5 - 4 885 c.583C>T c.(583-585)Cgc>Tgc p.R195C RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 195 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TTCTGATAGCGACAGTACTGG 0.512000 18 63 0 0 0.520397 0 0 CBX3 11335 broad.mit.edu 37 7 26242643 26242643 + Splice_Site SNP G G A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:26242643G>A ENST00000337620.4 + 2 452 c.e2+1 CBX3_ENST00000497498.1_Splice_Site|CBX3_ENST00000409747.1_Splice_Site|CBX3_ENST00000396386.2_Splice_Site NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 AACTACATTGGTAAGTTAATG 0.328000 7 74 0 0 0.248553 0 0 SI 6476 broad.mit.edu 37 3 164766975 164766975 + Missense_Mutation SNP C C G TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr3:164766975C>G ENST00000264382.3 - 15 1717 c.1655G>C c.(1654-1656)tGg>tCg p.W552S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 552 Isomaltase. 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) CTGTTTACCCCAGTTCTGCAC 0.333000 HNSCC(35;0.089) 14 55 0 0 0.479597 0 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032335 46032335 + Silent SNP G G A rs143349829 byFrequency TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr21:46032335G>A ENST00000334662.2 + 1 340 c.318G>A c.(316-318)ccG>ccA p.P106P TSPEAR_ENST00000323084.4_Intron NM_198695.2 NP_941968.2 P60410 KR108_HUMAN keratin associated protein 10-8 106 19 X 5 AA repeats of C-C-X(3). keratin filament breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 17 GCTGCCAGCCGGCTTGCTGCA 0.642000 9 268 0 0 0.435327 0 0 OR2F2 135948 broad.mit.edu 37 7 143633211 143633211 + Missense_Mutation SNP G G C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:143633211G>C ENST00000408955.2 + 1 953 c.886G>C c.(886-888)Gag>Cag p.E296Q NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) AAGGAATAAAGAGGTGAAGGG 0.433000 16 56 0 0 0.539581 0 0 ATP8B4 79895 broad.mit.edu 37 15 50168535 50168535 + Silent SNP A A T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr15:50168535A>T ENST00000284509.6 - 25 3108 c.2967T>A c.(2965-2967)gcT>gcA p.A989A ATP8B4_ENST00000559829.1_Silent_p.A989A NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 989 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ACTGGTAGTCAGCAATATGTT 0.468000 12 54 0 0 0.387290 0 0 CYB5R4 51167 broad.mit.edu 37 6 84630848 84630848 + Silent SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr6:84630848T>C ENST00000369681.4 + 8 752 c.612T>C c.(610-612)ttT>ttC p.F204F NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 204 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) ATGATTCCTTTAGAGCAGAAA 0.274000 11 12 0 0 0.387290 0 0 TRAV27 28655 broad.mit.edu 37 14 22616452 22616452 + RNA SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr14:22616452G>T ENST00000390457.2 + 0 290 TGTCCTCCTGGTGACAGTAGT 0.488000 14 44 9.31168e-06 1.03282e-05 0.435327 1 0 PCDHGB6 56100 broad.mit.edu 37 5 140788211 140788211 + Missense_Mutation SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr5:140788211G>T ENST00000520790.1 + 1 442 c.442G>T c.(442-444)Gct>Tct p.A148S PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCTGCATCCGCTGGTACACG 0.333000 11 44 9.05144e-12 1.16704e-11 0.435327 1 0 OR2W3 343171 broad.mit.edu 37 1 248059229 248059229 + Missense_Mutation SNP T T A TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr1:248059229T>A ENST00000537741.1 + 3 598 c.341T>A c.(340-342)cTt>cAt p.L114H OR2W3_ENST00000360358.3_Missense_Mutation_p.L114H Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAGTGCCTGCTTCTGGCTGTC 0.567000 29 69 0 0 0.729181 0 0 UTP20 27340 broad.mit.edu 37 12 101732712 101732712 + Silent SNP T T C TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:101732712T>C ENST00000261637.4 + 31 4164 c.3990T>C c.(3988-3990)agT>agC p.S1330S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1330 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CACAAGTCAGTAAAGAGCTTG 0.323000 16 39 0 0 0.479597 0 0 LRPPRC 10128 broad.mit.edu 37 2 44201338 44201338 + Frame_Shift_Del DEL G G - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:44201338delG ENST00000260665.7 - 9 1163 c.1106delC c.(1105-1107)cafs p.P369fs LRPPRC_ENST00000409659.1_Frame_Shift_Del_p.P369fs|LRPPRC_ENST00000409946.1_Frame_Shift_Del_p.P369fs NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 369 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAAGACACTTGGGCCATCTTC 0.378 20 79 --- --- --- --- MTIF2 4528 broad.mit.edu 37 2 55464460 55464461 + Frame_Shift_Ins INS - - T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr2:55464460_55464461insT ENST00000394600.3 - 16 2710_2711 c.1974_1975insA c.(1972-1977)aattaafs p.N*658fs MTIF2_ENST00000263629.4_Frame_Shift_Ins_p.N*658fs|MTIF2_ENST00000403721.1_Frame_Shift_Ins_p.N*658fs NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 658 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GTTAGTTTAAATTTTTTTTGTT 0.381 23 79 --- --- --- --- LOC646762 646762 broad.mit.edu 37 7 29720482 29720483 + RNA INS - - G rs70980562 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:29720482_29720483insG ENST00000426767.1 - 0 366 NR_024278.1 CTCTCAGATCAGTGATGCCCTG 0.485 7 21 --- --- --- --- TRGV3 6976 broad.mit.edu 37 7 38398480 38398481 + RNA INS - - AA rs3056123 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:38398480_38398481insAA ENST00000390346.2 - 0 226 GCACCCCTTTCAAGAAGAAAAC 0.480 11 35 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr7:151874148delT ENST00000355193.2 - 38 8608 c.8390delA c.(8389-8391)agfs p.K2797fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs lysine (K)-specific methyltransferase 2C p.K2797fs*26(20) TTCTTGTTCCTTTTTTTTTGG 0.348 8 116 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr8:37791834delT ENST00000307599.4 - 9 1342 c.1243delA c.(1243-1245)cafs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) CCAATCAGTGTTTTTTTTTCC 0.373 8 68 --- --- --- --- OR10A2 341276 broad.mit.edu 37 11 6891666 6891666 + Frame_Shift_Del DEL A A - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:6891666delA ENST00000307322.4 + 1 743 c.681delA c.(679-681)acfs p.T227fs NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCTTTTCTACATGTTCCTCAC 0.438 50 171 --- --- --- --- OR5T1 390155 broad.mit.edu 37 11 56044054 56044054 + Frame_Shift_Del DEL A A - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr11:56044054delA ENST00000313033.2 + 1 1026 c.940delA c.(940-942)aafs p.K314fs NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGAGGCAATCAAAAGATTGCT 0.343 32 88 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 3 5 --- --- --- --- ABCC11 85320 broad.mit.edu 37 16 48245000 48245000 + Frame_Shift_Del DEL C C - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr16:48245000delC ENST00000394747.1 - 10 1816 c.1467delG c.(1465-1467)ggfs p.G489fs ABCC11_ENST00000353782.5_Frame_Shift_Del_p.G489fs|ABCC11_ENST00000537808.1_Frame_Shift_Del_p.G489fs|ABCC11_ENST00000356608.2_Frame_Shift_Del_p.G489fs|ABCC11_ENST00000394748.1_Frame_Shift_Del_p.G489fs NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 489 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CATTGACGATCCCGGGACAGG 0.577 29 117 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Frame_Shift_Del DEL C C - TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr17:7577058delC ENST00000420246.2 - 8 1012 c.880delG c.(880-882)agfs p.E294fs TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.E294fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E294fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.E294fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E294fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 294 Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGAGGCTCCCCTTTCTTG 0.567 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 56 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 3 4 --- --- --- --- FRG1B 284802 broad.mit.edu 37 20 29625899 29625900 + Frame_Shift_Ins INS - - AT TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr20:29625899_29625900insAT ENST00000278882.3 + 5 523_524 c.143_144insAT c.(142-144)atafs p.I48fs FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.I53fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.I48fs endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTATGGAAAATATCTTGGTA 0.342 8 152 --- --- --- --- KRTAP10-6 386674 broad.mit.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG rs71199613 TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59bffff6-361e-4517-b620-42bb23398b5c 7fc655ab-9a59-4b5b-9b79-a38e3138445d g.chr21:46012219_46012220insGGGGCGCAGCAGCTG ENST00000400368.1 - 1 166_167 c.146_147insCAGCTGCTGCGCCCC c.(145-147)cgc>cCAGCTGCTGCGCCCCgc p.48_49insPAAAP TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 48 29 X 5 AA repeats of C-C-X(3). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 GGCAGGGGGCCGGGGCGCAGCA 0.688 10 77 --- --- --- ---