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 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 3 45 0 0 1 0 0 PON2 5445 broad.mit.edu 37 7 95039375 95039375 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr7:95039375T>C ENST00000536183.1 - 6 779 c.596A>G c.(595-597)tAt>tGt p.Y199C PON2_ENST00000483292.1_5'UTR|PON2_ENST00000433091.2_Missense_Mutation_p.Y166C|PON2_ENST00000222572.3_Missense_Mutation_p.Y178C NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 178 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) ATTTGTGGCATAGAAATGTGC 0.368000 16 21 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65916199 65916199 + Nonsense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr17:65916199C>T ENST00000321892.4 + 15 5936 c.5875C>T c.(5875-5877)Cga>Tga p.R1959* BPTF_ENST00000306378.6_Nonsense_Mutation_p.R1833*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R1820*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R1959* Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1959 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTATGGCATTCGATCTGAATA 0.318000 5 86 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100434271 100434271 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr4:100434271G>A ENST00000514652.1 + 2 387 c.33G>A c.(31-33)caG>caA p.Q11Q C4orf17_ENST00000326581.4_Silent_p.Q11Q Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 11 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) CTGCTCTTCAGATCGAGGGCA 0.463000 8 51 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85615158 85615158 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr9:85615158G>A ENST00000376447.3 - 12 1909 c.1649C>T c.(1648-1650)gCt>gTt p.A550V NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 550 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CCCCACTGCAGCGTCCCCAGC 0.453000 9 62 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53343985 53343985 + Missense_Mutation SNP T T G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr19:53343985T>G ENST00000595646.1 - 4 1682 c.1562A>C c.(1561-1563)aAg>aCg p.K521T ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.K468T|ZNF468_ENST00000390651.4_Missense_Mutation_p.K468T Q5VIY5 ZN468_HUMAN zinc finger protein 468 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) CTATTAAGGCTTCTCTCCACT 0.413000 31 79 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114279596 114279596 + Silent SNP C C A rs144939151 TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr4:114279596C>A ENST00000357077.4 + 38 9875 c.9822C>A c.(9820-9822)ccC>ccA p.P3274P ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P3241P|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3241 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.P3274P(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATGATTCTCCCGATTCTTCCC 0.438000 6 86 5.9392e-07 6.26024e-07 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 41990537 41990537 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:41990537C>T ENST00000372584.1 - 5 6266 c.5252G>A c.(5251-5253)cGa>cAa p.R1751Q HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1751Q|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1751Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1751 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ATATTTCCCTCGGCCGCGGCC 0.507000 24 41 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730046 62730046 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:62730046C>T ENST00000349451.3 + 6 1419 c.1007C>T c.(1006-1008)gCa>gTa p.A336V OPRL1_ENST00000336866.2_Missense_Mutation_p.A336V|OPRL1_ENST00000355631.4_Missense_Mutation_p.A336V NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 336 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TTCTGCTGTGCATCTGCCCTG 0.637000 14 30 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55362691 55362691 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr16:55362691G>A ENST00000290552.7 + 5 2133 c.801G>A c.(799-801)gaG>gaA p.E267E RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 267 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 aggaggaggaggaagctgaag 0.637000 3 64 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10575982 10575982 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr16:10575982C>T ENST00000396560.2 + 12 2152 c.1925C>T c.(1924-1926)aCt>aTt p.T642I ATF7IP2_ENST00000356427.2_Missense_Mutation_p.T642I|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.T186I|ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000396559.1_3'UTR NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 642 Fibronectin type-III. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 ATGGCCTGTACTTTATCTCAG 0.358000 49 80 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158648191 158648191 + Splice_Site SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:158648191C>A ENST00000368148.3 - 6 992 c.812_splice c.e6+1 p.R271_splice SPTA1_ENST00000368147.3_Splice_Site_p.R271_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 271 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGATCCATACCTTTTGAATCG 0.423000 4 72 2.56e-06 2.62737e-06 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 80 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47887616 47887616 + Missense_Mutation SNP T T G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:47887616T>G ENST00000396105.1 - 3 979 c.733A>C c.(733-735)Agc>Cgc p.S245R ZNFX1_ENST00000371752.1_Missense_Mutation_p.S245R|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S245R NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 245 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATGATGTTGCTTATGTGCTCT 0.493000 4 52 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88120351 88120351 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr6:88120351A>G ENST00000507897.1 + 3 240 c.157A>G c.(157-159)Acc>Gcc p.T53A C6ORF165_ENST00000369562.4_Missense_Mutation_p.T53A Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 53 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CATGGATAGAACCCTCATGAA 0.353000 3 44 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44670163 44670163 + Silent SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:44670163C>A ENST00000454036.1 + 8 1195 c.1119C>A c.(1117-1119)gcC>gcA p.A373A SLC12A5_ENST00000243964.3_Silent_p.A350A|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 373 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGGTGCTGCCAGTGGCCTCA 0.567000 20 41 1.50039e-11 1.62542e-11 1 1 0 GOLGA8EP 0 broad.mit.edu 37 15 23443503 23443503 + RNA SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr15:23443503C>T ENST00000526079.1 + 0 1578 NR_027407.1|NR_033350.1 CCCTTAGGAGCGCCTGGAAGC 0.632000 13 3 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V P0CG48 UBC_HUMAN ubiquitin C 222 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(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 154 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15678826 15678826 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr9:15678826A>G ENST00000380701.3 + 10 1475 c.1147A>G c.(1147-1149)Ata>Gta p.I383V CCDC171_ENST00000297641.3_Missense_Mutation_p.I383V NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 383 GAAAGTAATTATAGACCTTTC 0.313000 6 37 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43345071 43345071 + RNA SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr17:43345071C>T ENST00000344686.2 - 0 2133 MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CTTGATTTGGCGGTGGATGTC 0.572000 6 99 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 4 186 0 0 1 0 0 TMIGD2 126259 broad.mit.edu 37 19 4292688 4292688 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr19:4292688C>T ENST00000301272.2 - 5 802 c.757G>A c.(757-759)Ggc>Agc p.G253S TMIGD2_ENST00000600114.1_Missense_Mutation_p.G133S|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G249S|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G81S NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 253 Pro-rich. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ACGGGGTggccgggcctgggg 0.667000 13 55 0 0 1 0 0 RALGPS1 9649 broad.mit.edu 37 9 129977092 129977092 + Missense_Mutation SNP G G T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr9:129977092G>T ENST00000259351.5 + 18 1882 c.1615G>T c.(1615-1617)Gat>Tat p.D539Y RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.D497Y|RALGPS1_ENST00000373434.1_Missense_Mutation_p.D489Y NM_014636.2 NP_055451.1 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 539 PH.|Required for stimulation of nucleotide exchange by RALA. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 CAAGCATTTGGATGATGCATG 0.438000 OREG0019504 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 54 3.73808e-20 4.2878e-20 1 1 0 GRIA4 0 broad.mit.edu 37 11 105623908 105623908 + Missense_Mutation SNP A A G TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr11:105623908A>G ENST00000393127.2 + 4 895 c.449A>G c.(448-450)gAa>gGa p.E150G GRIA4_ENST00000393125.2_Missense_Mutation_p.E150G|GRIA4_ENST00000525187.1_Missense_Mutation_p.E150G|GRIA4_ENST00000530497.1_Missense_Mutation_p.E150G|GRIA4_ENST00000282499.5_Missense_Mutation_p.E150G|GRIA4_ENST00000428631.2_Missense_Mutation_p.E150G NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 150 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GATCACTACGAATGGAACTGT 0.438000 9 76 0 0 1 0 0 CHRNA10 57053 broad.mit.edu 37 11 3687407 3687407 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr11:3687407C>T ENST00000250699.2 - 5 1354 c.1283G>A c.(1282-1284)cGc>cAc p.R428H CHRNA10_ENST00000534359.1_3'UTR NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 428 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CAGGAAGAAGCGGTCCATCAC 0.622000 6 37 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128480231 128480231 + Missense_Mutation SNP C C A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr2:128480231C>A ENST00000322313.4 - 14 1610 c.1452G>T c.(1450-1452)aaG>aaT p.K484N NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 484 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TTTTCTGATCCTTTTGCATCA 0.408000 4 62 0.00909568 0.00909568 1 1 0 FAM47B 170062 broad.mit.edu 37 X 34961838 34961838 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chrX:34961838C>T ENST00000329357.5 + 1 926 c.890C>T c.(889-891)cCg>cTg p.P297L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 297 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CATCTCCACCCGGAGCCTCCT 0.632000 10 37 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964899 88964899 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr7:88964899G>A ENST00000333190.4 + 4 3212 c.2603G>A c.(2602-2604)aGc>aAc p.S868N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 868 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTGAATAAAAGCAAGAGAAAT 0.428000 HNSCC(36;0.09) 15 35 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35273990 35273990 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr15:35273990G>A ENST00000356321.4 - 3 1990 c.1646C>T c.(1645-1647)tCa>tTa p.S549L NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) ATTATTACCTGAATGATTAGA 0.368000 8 96 0 0 1 0 0 SLC38A7 55238 broad.mit.edu 37 16 58713793 58713793 + Missense_Mutation SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr16:58713793C>T ENST00000570101.1 - 2 1121 c.238G>A c.(238-240)Ggg>Agg p.G80R SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000564100.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G80R|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G80R|SLC38A7_ENST00000566953.1_Intron Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 80 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 GCCACGCCCCCCGCAGTGCTG 0.622000 8 10 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580234 37580234 + Missense_Mutation SNP G G T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:37580234G>T ENST00000217429.4 + 4 960 c.919G>T c.(919-921)Ggc>Tgc p.G307C NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 277 cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) AATTCTGTCTGGCCAAGTGGT 0.438000 33 34 9.04072e-19 1.00739e-18 1 1 0 PCDHGB7 0 broad.mit.edu 37 5 140798188 140798188 + Silent SNP C C T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr5:140798188C>T ENST00000398594.2 + 1 762 c.762C>T c.(760-762)gaC>gaT p.D254D PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_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|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGGAAGACGTGCCTCCAG 0.537000 4 39 0 0 1 0 0 RPL11 6135 broad.mit.edu 37 1 24020353 24020353 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:24020353T>C ENST00000374550.3 + 3 259 c.214T>C c.(214-216)Tgc>Cgc p.C72R RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 72 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) TGCTGTCCACTGCACAGTTCG 0.478000 15 19 0 0 1 0 0 CXorf38 159013 broad.mit.edu 37 X 40506743 40506743 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chrX:40506743G>A ENST00000327877.5 - 1 56 c.30C>T c.(28-30)ctC>ctT p.L10L CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000440784.2_Silent_p.L10L|CXorf38_ENST00000378418.2_Silent_p.L10L|CXorf38_ENST00000378426.1_5'UTR NM_144970.2 NP_659407.1 Q8TB03 CX038_HUMAN chromosome X open reading frame 38 10 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 12 CGGCGCAGTTGAGGCGCGCCG 0.672000 13 7 0 0 1 0 0 PROP1 5626 broad.mit.edu 37 5 177419968 177419968 + Silent SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr5:177419968G>A ENST00000308304.2 - 3 731 c.423C>T c.(421-423)gcC>gcT p.A141A NM_006261.4 NP_006252.3 O75360 PROP1_HUMAN PROP paired-like homeobox 1 141 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(9)|stomach(1) 13 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGAAAAGGCGGCAGGAGACA 0.587000 3 14 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51009403 51009403 + Missense_Mutation SNP T T C TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr22:51009403T>C ENST00000360719.2 - 16 2082 c.1945A>G c.(1945-1947)Acc>Gcc p.T649A CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.T444A|CPT1B_ENST00000440709.1_Missense_Mutation_p.T568A|CPT1B_ENST00000405237.3_Missense_Mutation_p.T649A|CPT1B_ENST00000395650.2_Missense_Mutation_p.T649A|CPT1B_ENST00000457250.1_Missense_Mutation_p.T615A|CPT1B_ENST00000312108.7_Missense_Mutation_p.T649A NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 649 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CCTGCCCCGGTCATGGCCAGG 0.547000 4 156 0 0 1 0 0 GIPR 2696 broad.mit.edu 37 19 46177354 46177354 + Missense_Mutation SNP G G A TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr19:46177354G>A ENST00000590918.1 + 6 506 c.407G>A c.(406-408)cGg>cAg p.R136Q GIPR_ENST00000304207.8_Missense_Mutation_p.R100Q|GIPR_ENST00000263281.3_Missense_Mutation_p.R136Q NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 136 R -> W (in dbSNP:rs13306402). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) ATCTTGGAGCGGTTGCAGGTC 0.582000 7 116 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772288 4772288 + Frame_Shift_Del DEL C C - TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr1:4772288delC ENST00000378191.4 + 2 739 c.358delC c.(358-360)ccfs p.P121fs AJAP1_ENST00000378190.3_Frame_Shift_Del_p.P121fs NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 121 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGGCCAAGCCCCCAGCTGC 0.726 2 4 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 6 11 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 2 4 --- --- --- --- TRBV29-1 0 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 3 6 --- --- --- --- RP11-464F9.1 0 broad.mit.edu 37 10 75486922 75486923 + RNA INS - - A rs11387949 TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr10:75486922_75486923insA ENST00000399449.3 - 0 427 BMS1P4_ENST00000584747.1_RNA|RP11-574K11.28_ENST00000580790.1_RNA GCTAACTTAGTAAAGTATAAGA 0.386 3 5 --- --- --- --- GGT7 2686 broad.mit.edu 37 20 33447832 33447833 + Frame_Shift_Del DEL GG GG - TCGA-V1-A8WS-01A-11D-A377-08 TCGA-V1-A8WS-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8340e524-5498-4243-b80f-416915f3604c ba0467ad-64f1-43df-81e1-529e66e6e6fe g.chr20:33447832_33447833delGG ENST00000336431.5 - 6 800_801 c.756_757delCC c.(754-759)tcaafs p.SQ252fs NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 252 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GCCAGGACTTGGGACCATGGCA 0.639 2 4 --- --- --- ---