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 PCNXL2 80003 broad.mit.edu 37 1 233152767 233152767 + Missense_Mutation SNP A A T rs147956389 by1000genomes TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:233152767A>T ENST00000258229.8 - 27 4973 c.4739T>A c.(4738-4740)aTt>aAt p.I1580N PCNXL2_ENST00000344698.2_Missense_Mutation_p.I232N NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1580 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTCATCATCAATGTTAATGTT 0.458000 38 54 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85446689 85446689 + Missense_Mutation SNP G G C TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr6:85446689G>C ENST00000369663.5 - 8 1875 c.1538C>G c.(1537-1539)aCc>aGc p.T513S TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 513 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) ACCCTGATGGGTCTGGTTAGT 0.498000 19 124 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22084264 22084264 + Silent SNP T T C TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:22084264T>C ENST00000308271.9 - 2 795 c.147A>G c.(145-147)aaA>aaG p.K49K USP48_ENST00000400301.1_Silent_p.K49K|USP48_ENST00000421625.2_Silent_p.K49K|USP48_ENST00000529637.1_Silent_p.K49K NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 49 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TCGGATTTCCTTTGCAGTTTC 0.333000 19 22 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102294697 102294697 + RNA SNP G G T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr15:102294697G>T ENST00000561463.1 + 0 2743 TCGTGGAGGCGTCGGCAGAGC 0.602000 4 21 0.00024832 0.00026251 1 1 0 PKD1 5310 broad.mit.edu 37 16 2153765 2153765 + Missense_Mutation SNP G G A rs144979397 byFrequency TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr16:2153765G>A ENST00000262304.4 - 23 8501 c.8293C>T c.(8293-8295)Cgc>Tgc p.R2765C PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.R2765C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2765 REJ. R -> C.|R -> RILMR (in ADPKD1). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 ACGCGGGAGCGCATGAGGATG 0.692000 4 46 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735773 55735773 + Missense_Mutation SNP T T C TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr11:55735773T>C ENST00000312345.2 - 1 217 c.167A>G c.(166-168)aAt>aGt p.N56S NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) AAGGGAAAAATTGCTAAGAAA 0.343000 26 59 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886441 57886441 + Missense_Mutation SNP C C T rs139300657 byFrequency TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr11:57886441C>T ENST00000302610.1 - 1 475 c.476G>A c.(475-477)cGt>cAt p.R159H OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R159H(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GCAAGTGGTACGCAGGATGGC 0.542000 3 18 0 0 1 0 0 SULT2A1 6822 broad.mit.edu 37 19 48389378 48389378 + Splice_Site SNP C C T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr19:48389378C>T ENST00000222002.3 - 1 276 c.e1+1 NM_003167.3 NP_003158.2 Q06520 ST2A1_HUMAN sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TGCCTCCTTACCTGATTTGGG 0.413000 29 155 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10558261 10558261 + Missense_Mutation SNP C C A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr17:10558261C>A ENST00000583535.1 - 3 208 c.121G>T c.(121-123)Gtg>Ttg p.V41L MYH3_ENST00000226209.7_Missense_Mutation_p.V41L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 41 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TTTGAGTCCACCACGAAGCAA 0.507000 54 162 3.88204e-17 4.35259e-17 1 1 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 40 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124746059 124746059 + Silent SNP G G A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr3:124746059G>A ENST00000311127.4 - 3 970 c.903C>T c.(901-903)gaC>gaT p.D301D NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 301 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ATGAGGAAAGGTCTAAGAGAG 0.468000 3 9 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19501352 19501352 + Missense_Mutation SNP A A G TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr12:19501352A>G ENST00000538714.1 + 21 2598 c.2594A>G c.(2593-2595)tAc>tGc p.Y865C PLEKHA5_ENST00000299275.6_Missense_Mutation_p.Y807C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y865C|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y565C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y973C|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y796C|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y870C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y789C NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 807 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TATAGACTCTACAAGAGTGAA 0.333000 9 78 0 0 1 0 0 PSG10P 0 broad.mit.edu 37 19 43359859 43359859 + RNA SNP T T G rs10469289 by1000genomes TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr19:43359859T>G ENST00000597171.1 - 0 11 NR_026824.1 GTGCTGTCCTTCCTCCTTCTG 0.592000 3 43 0 0 1 0 0 TKTL2 84076 broad.mit.edu 37 4 164394293 164394293 + Missense_Mutation SNP A A C TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr4:164394293A>C ENST00000280605.3 - 1 754 c.594T>G c.(592-594)caT>caG p.H198Q NM_032136.4 NP_115512.3 Q9H0I9 TKTL2_HUMAN transketolase-like 2 198 cytoplasm metal ion binding|transketolase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGTCTGCGCCATGCTCAAGGG 0.527000 37 60 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154393803 154393803 + Silent SNP A A G TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr5:154393803A>G ENST00000435029.4 + 1 544 c.384A>G c.(382-384)aaA>aaG p.K128K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 128 Kinesin-motor. K -> Q (in Ref. 1; AF241316). 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) AAATTGATAAAAAGAGTGACT 0.373000 39 75 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53267018 53267018 + Nonstop_Mutation SNP A A T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr20:53267018A>T ENST00000262593.5 + 8 1271 c.921A>T c.(919-921)tgA>tgT p.*307C DOK5_ENST00000395939.1_Nonstop_Mutation_p.*199C NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 0 insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) CTGAGCACTGACAGTAACTGC 0.423000 4 45 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44079903 44079903 + Missense_Mutation SNP C C T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr2:44079903C>T ENST00000272286.2 + 6 950 c.860C>T c.(859-861)aCg>aTg p.T287M NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 287 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTCCTGATGACGTCTGGCACC 0.587000 6 71 0 0 1 0 0 FUT3 2525 broad.mit.edu 37 19 5844724 5844724 + Nonsense_Mutation SNP C C A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr19:5844724C>A ENST00000303225.6 - 3 761 c.127G>T c.(127-129)Gga>Tga p.G43* FUT3_ENST00000458379.2_Nonsense_Mutation_p.G43*|FUT3_ENST00000589918.1_Nonsense_Mutation_p.G43*|FUT3_ENST00000589620.1_Nonsense_Mutation_p.G43* NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 43 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CTAGGGGATCCAGTGGCATCG 0.622000 8 12 3.09899e-07 3.37242e-07 1 1 0 GUCY2C 2984 broad.mit.edu 37 12 14836053 14836053 + Silent SNP G G A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr12:14836053G>A ENST00000261170.3 - 4 670 c.534C>T c.(532-534)aaC>aaT p.N178N RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 178 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 AGGGCAGATCGTTGGTTTTCC 0.383000 21 24 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249247 20249247 + Missense_Mutation SNP T T C TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr14:20249247T>C ENST00000315957.4 + 1 847 c.766T>C c.(766-768)Tcc>Ccc p.S256P NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTTGGGCCATCCATCTACAT 0.423000 43 126 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 153984831 153984831 + Missense_Mutation SNP A A T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:153984831A>T ENST00000368559.3 - 34 4740 c.4669T>A c.(4669-4671)Tca>Aca p.S1557T NUP210L_ENST00000368553.1_Missense_Mutation_p.S490T|NUP210L_ENST00000271854.3_Missense_Mutation_p.S1557T NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1557 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AATCTTGATGATGCATTGACC 0.413000 64 103 0 0 1 0 0 ADO 84890 broad.mit.edu 37 10 64565000 64565000 + Missense_Mutation SNP C C G TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr10:64565000C>G ENST00000373783.1 + 1 485 c.181C>G c.(181-183)Ctc>Gtc p.L61V RP11-436D10.3_ENST00000425290.1_RNA NM_032804.5 NP_116193.2 Q96SZ5 AEDO_HUMAN 2-aminoethanethiol (cysteamine) dioxygenase 61 cysteamine dioxygenase activity|metal ion binding lung(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) CCTGACCCAGCTCCGCGCCGA 0.687000 13 9 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21245891 21245891 + Missense_Mutation SNP T T A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr2:21245891T>A ENST00000233242.1 - 18 2755 c.2628A>T c.(2626-2628)aaA>aaT p.K876N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 876 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) ACACGGAGGGTTTTGCCACCA 0.473000 4 69 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950925 14950925 + Missense_Mutation SNP G G A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr10:14950925G>A ENST00000453695.2 - 14 1645 c.1201C>T c.(1201-1203)Ctt>Ttt p.L401F DCLRE1C_ENST00000378258.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.L406F|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.L521F|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.L174F|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.L406F|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.L401F|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.L401F NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 521 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 TCACTGAAAAGCTTTGGTGAC 0.453000 Non-homologous end-joining 10 29 0 0 1 0 0 JAK1 3716 broad.mit.edu 37 1 65309860 65309860 + Missense_Mutation SNP C C T TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:65309860C>T ENST00000342505.4 - 17 2538 c.2290G>A c.(2290-2292)Gtt>Att p.V764I JAK1_ENST00000465376.1_5'UTR NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 764 Protein kinase 1. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GAGTCCTCAACACACTCAGGA 0.488000 Mis ALL 42 105 0 0 1 0 0 RP5-896L10.1 0 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 2 4 --- --- --- --- CD46 4179 broad.mit.edu 37 1 207934709 207934724 + Frame_Shift_Del DEL AGATCCATTTTCACTT AGATCCATTTTCACTT - TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr1:207934709_207934724delAGATCCATTTTCACTT ENST00000358170.2 + 5 747_762 c.591_606delAGATCCATTTTCACTT c.(589-606)ccfs p.PDPFSL197fs CD46_ENST00000367047.1_Frame_Shift_Del_p.PDPFSL134fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367042.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000322875.4_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000480003.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000441839.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000357714.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000367041.1_Frame_Shift_Del_p.PDPFSL197fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.PDPFSL197fs NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 197 Sushi 3. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 CACCTGGACCAGATCCATTTTCACTTATTGGAGAGA 0.380 9 45 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176721551 176721552 + Frame_Shift_Ins INS - - A TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr5:176721551_176721552insA ENST00000439151.2 + 23 7227_7228 c.7182_7183insA c.(7180-7185)atctagfs p.*2395fs NSD1_ENST00000354179.4_Frame_Shift_Ins_p.*2126fs|NSD1_ENST00000361032.4_Frame_Shift_Ins_p.*2292fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.*2126fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 2395 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) GACTGCTCATTACTAGCAGTCC 0.545 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 44 76 --- --- --- --- PCMTD1 115294 broad.mit.edu 37 8 52733063 52733063 + Frame_Shift_Del DEL T T - TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr8:52733063delT ENST00000360540.5 - 7 1328 c.922delA c.(922-924)tgfs p.M308fs PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 308 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) tcctcttccattttttcatcc 0.373 8 114 --- --- --- --- PXMP2 5827 broad.mit.edu 37 12 133266955 133266955 + Frame_Shift_Del DEL G G - TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr12:133266955delG ENST00000545677.1 + 2 209 c.6delG c.(4-6)ccfs p.P2fs PXMP2_ENST00000543589.1_Frame_Shift_Del_p.V77fs|PXMP2_ENST00000539093.1_Frame_Shift_Del_p.P2fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Del_p.P2fs|PXMP2_ENST00000428960.2_5'UTR|PXMP2_ENST00000317479.3_Frame_Shift_Del_p.V77fs Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 0 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) GAGATATGCCGTTTACGGGTG 0.498 18 36 --- --- --- --- CACNA1H 8912 broad.mit.edu 37 16 1262015 1262015 + Frame_Shift_Del DEL G G - TCGA-BJ-A28V-01A-11D-A19J-08 TCGA-BJ-A28V-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19233fd1-5229-466e-acf3-5882165758e0 deb47ec0-3300-4e16-867e-cc3fe8cc3e57 g.chr16:1262015delG ENST00000348261.5 + 25 4884 c.4636delG c.(4636-4638)tgfs p.V1546fs CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.V1546fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.V1546fs NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 1546 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CAGCTTCTTCGTGCTCAACAT 0.642 56 269 --- --- --- ---