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 ATP2A2 488 broad.mit.edu 37 12 110783837 110783837 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr12:110783837C>T ENST00000395494.2 + 18 3255 c.2692C>T c.(2692-2694)Ccc>Tcc p.P898S ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 925 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GCTGAGGATGCCCCCCTGGGA 0.577000 4 191 0 0 0.150653 0 0 OCRL 4952 broad.mit.edu 37 X 128709895 128709895 + Missense_Mutation SNP T T C TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chrX:128709895T>C ENST00000371113.4 + 17 1900 c.1735T>C c.(1735-1737)Ttt>Ctt p.F579L OCRL_ENST00000357121.5_Missense_Mutation_p.F579L NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 579 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 AAATGTGAAGTTTCGGCAACT 0.408000 85 129 0 0 0.870114 0 0 EPHB1 2047 broad.mit.edu 37 3 134670486 134670486 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr3:134670486C>T ENST00000398015.3 + 3 767 c.397C>T c.(397-399)Ccc>Tcc p.P133S EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 133 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GTCTGAGGCCCCCTACCTCAA 0.507000 72 182 0 0 0.870114 0 0 ATP8B2 57198 broad.mit.edu 37 1 154318750 154318750 + Missense_Mutation SNP A A G TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr1:154318750A>G ENST00000368489.3 + 25 2921 c.2921A>G c.(2920-2922)gAg>gGg p.E974G NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 960 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AAGCTGTATGAGCCGGGCCAG 0.572000 3 172 0 0 0.150653 0 0 CLCC1 23155 broad.mit.edu 37 1 109492526 109492526 + Silent SNP T T C TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr1:109492526T>C ENST00000369971.2 - 3 276 c.147A>G c.(145-147)tcA>tcG p.S49S CLCC1_ENST00000369970.3_Silent_p.S49S|CLCC1_ENST00000415331.1_Silent_p.S49S|CLCC1_ENST00000356970.2_Silent_p.S49S|CLCC1_ENST00000369969.2_Silent_p.S49S|CLCC1_ENST00000348264.2_Silent_p.S49S|CLCC1_ENST00000302500.4_Silent_p.S49S|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Silent_p.S49S|CLCC1_ENST00000369968.2_Silent_p.S49S NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 49 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CCTTTTCCCCTGAAATACCAT 0.294000 4 89 0 0 0.150653 0 0 SDK2 54549 broad.mit.edu 37 17 71375612 71375612 + Silent SNP C C T rs144878236 byFrequency TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr17:71375612C>T ENST00000392650.3 - 35 4839 c.4839G>A c.(4837-4839)ccG>ccA p.P1613P SDK2_ENST00000388726.3_Silent_p.P1594P NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1613 Fibronectin type-III 10. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 AGACCTCCTGCGGGGGGCTGG 0.657000 17 28 0 0 0.575678 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 4 67 0 0 0.150653 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 2 21 0 0 0.115264 0 0 SCYL3 57147 broad.mit.edu 37 1 169857896 169857896 + Missense_Mutation SNP G G T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr1:169857896G>T ENST00000367772.4 - 2 283 c.86C>A c.(85-87)gCt>gAt p.A29D SCYL3_ENST00000367771.5_Missense_Mutation_p.A29D|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.A29D NM_181093.3 NP_851607.2 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) 29 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGCAGTACAGCGGGATAAAC 0.418000 4 112 0.000602214 0.000699346 0.184627 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296226 39296226 + Missense_Mutation SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr17:39296226G>A ENST00000345847.4 - 1 513 c.514C>T c.(514-516)Cgt>Tgt p.R172C NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 168 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CAGACTGGACGCAGgcagcag 0.657000 5 3 0 0 0.248553 0 0 TNS1 7145 broad.mit.edu 37 2 218696243 218696243 + Missense_Mutation SNP G G C TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr2:218696243G>C ENST00000171887.4 - 20 3385 c.2933C>G c.(2932-2934)aCa>aGa p.T978R TNS1_ENST00000419504.1_Missense_Mutation_p.T978R|TNS1_ENST00000430930.1_Missense_Mutation_p.T978R NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 978 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) AGACAGGGGTGTCTTGGCCAG 0.652000 8 14 0 0 0.335167 0 0 ABI3BP 25890 broad.mit.edu 37 3 100567712 100567712 + Silent SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr3:100567712C>T ENST00000471714.1 - 18 1639 c.1530G>A c.(1528-1530)caG>caA p.Q510Q ABI3BP_ENST00000284322.5_Silent_p.Q461Q|ABI3BP_ENST00000495063.1_Silent_p.Q510Q Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 461 Pro-rich. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 ATGTAGTTTGCTGGGGAGCTG 0.398000 3 75 0 0 0.150653 0 0 SDHD 6392 broad.mit.edu 37 11 111959647 111959647 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr11:111959647C>T ENST00000375549.3 + 3 361 c.226C>T c.(226-228)Ctc>Ttc p.L76F SDHD_ENST00000525291.1_Missense_Mutation_p.L37F|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.L76F|SDHD_ENST00000528021.1_Missense_Mutation_p.L76F|SDHD_ENST00000526592.1_Missense_Mutation_p.L76F|SDHD_ENST00000532699.1_Missense_Mutation_p.L76F NM_003002.2 NP_002993.1 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D, integral membrane protein 76 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 9 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) CAGTGTTTTGCTCCTGGGTCT 0.498000 """Mis, N, F, S""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 5 89 0 0 0.184627 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 3 89 0 0 0.150653 0 0 GLCE 26035 broad.mit.edu 37 15 69561376 69561376 + Silent SNP G G T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr15:69561376G>T ENST00000261858.2 + 5 1875 c.1647G>T c.(1645-1647)ctG>ctT p.L549L GLCE_ENST00000559420.2_Silent_p.L485L NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 549 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 AAGCCATGCTGCCCTTGTATG 0.488000 4 188 0.150653 0.164349 0.150653 1 0 OR5L2 26338 broad.mit.edu 37 11 55594762 55594762 + Nonsense_Mutation SNP T T A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr11:55594762T>A ENST00000378397.1 + 1 68 c.68T>A c.(67-69)tTg>tAg p.L23* NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) GTCCCTGAGTTGAGAGTCTGC 0.488000 HNSCC(27;0.073) 7 368 0 0 0.248553 0 0 RAB25 57111 broad.mit.edu 37 1 156038145 156038145 + Silent SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr1:156038145G>A ENST00000361084.5 + 3 565 c.324G>A c.(322-324)aaG>aaA p.K108K RAB25_ENST00000487325.1_3'UTR NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 108 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) GATGGCTGAAGGAGCTCTATG 0.582000 5 211 0 0 0.184627 0 0 KLB 152831 broad.mit.edu 37 4 39448955 39448955 + Missense_Mutation SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr4:39448955G>A ENST00000257408.4 + 4 2706 c.2609G>A c.(2608-2610)cGc>cAc p.R870H NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 870 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TGGGGGGTGCGCAAGCTGCTG 0.657000 4 171 0 0 0.184627 0 0 TPH2 121278 broad.mit.edu 37 12 72388217 72388217 + Splice_Site SNP A A G TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr12:72388217A>G ENST00000333850.3 + 8 1082 c.e8-1 NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CTTTTTTGTCAGAGACACATG 0.393000 82 101 0 0 0.870114 0 0 TPST2 8459 broad.mit.edu 37 22 26937461 26937461 + Missense_Mutation SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr22:26937461G>A ENST00000338754.4 - 3 406 c.136C>T c.(136-138)Cgg>Tgg p.R46W TPST2_ENST00000403880.1_Missense_Mutation_p.R46W|TPST2_ENST00000398110.2_Missense_Mutation_p.R46W NM_003595.3 NP_003586.3 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 46 peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 TGCTCAGGCCGCATGGCCCCC 0.701000 3 51 0 0 0.150653 0 0 CACNA1B 774 broad.mit.edu 37 9 140809138 140809138 + Missense_Mutation SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr9:140809138G>A ENST00000371372.1 + 5 800 c.655G>A c.(655-657)Gcc>Acc p.A219T CACNA1B_ENST00000371363.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A219T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A219T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A219T|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 219 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CATCATGAAGGCCATGGTTCC 0.557000 12 29 0 0 0.387290 0 0 OR2A12 346525 broad.mit.edu 37 7 143793094 143793094 + Silent SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr7:143793094G>A ENST00000408949.2 + 1 954 c.894G>A c.(892-894)ggG>ggA p.G298G NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AGGTGAAAGGGGCTCTAAAGA 0.453000 5 383 0 0 0.184627 0 0 OCRL 4952 broad.mit.edu 37 X 128709875 128709875 + Splice_Site SNP T T A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chrX:128709875T>A ENST00000371113.4 + 17 1880 c.1713_splice c.e17-1 p.F572_splice OCRL_ENST00000357121.5_Splice_Site_p.F572_splice NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 572 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 ATTCCCCAGTTTGTGTTTGAA 0.393000 81 111 0 0 0.870114 0 0 MNF1 0 broad.mit.edu 37 6 33669185 33669185 + Missense_Mutation SNP C C G TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr6:33669185C>G ENST00000607484.1 - 2 191 c.151G>C c.(151-153)Gag>Cag p.E51Q MNF1_ENST00000374214.3_Intron NM_032340.3 NP_115716.1 Q9BRT2 CF125_HUMAN 51 TCACAGGCCTCAGGCTCTGCA 0.473000 6 143 0 0 0.217242 0 0 OR2L3 391192 broad.mit.edu 37 1 248224344 248224344 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr1:248224344C>T ENST00000359959.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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) GGCCTATGATCGTTACATTGC 0.443000 136 182 0 0 0.870114 0 0 KANK2 25959 broad.mit.edu 37 19 11287390 11287390 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr19:11287390C>T ENST00000432929.2 - 7 2008 c.1648G>A c.(1648-1650)Gcc>Acc p.A550T KANK2_ENST00000355150.5_Missense_Mutation_p.A542T|KANK2_ENST00000586659.1_Missense_Mutation_p.A542T|KANK2_ENST00000589359.1_Missense_Mutation_p.A550T|KANK2_ENST00000589894.1_Missense_Mutation_p.A542T NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 542 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GGGGCTTCGGCCACACTCGGA 0.622000 27 112 0 0 0.681144 0 0 SEC62 7095 broad.mit.edu 37 3 169700673 169700673 + Missense_Mutation SNP G G A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr3:169700673G>A ENST00000337002.4 + 4 488 c.430G>A c.(430-432)Gat>Aat p.D144N SEC62_ENST00000480708.1_Missense_Mutation_p.D144N|SEC62-AS1_ENST00000479626.1_RNA NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 144 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 gaaaaaaaaagatggtgaaaa 0.289000 3 48 0 0 0.115264 0 0 NAV3 89795 broad.mit.edu 37 12 78515989 78515989 + Missense_Mutation SNP C C T TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr12:78515989C>T ENST00000397909.2 + 16 4192 c.4019C>T c.(4018-4020)aCa>aTa p.T1340I NAV3_ENST00000536525.2_Missense_Mutation_p.T1340I|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.T1340I Q8IVL0 NAV3_HUMAN neuron navigator 3 1340 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACTCTTTCACATCAGGTGGT 0.517000 HNSCC(70;0.22) 13 165 0 0 0.435327 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 2 4 --- --- --- --- AC073321.4 0 broad.mit.edu 37 2 217475031 217475032 + RNA INS - - AA rs71401156 TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr2:217475031_217475032insAA ENST00000441803.1 + 0 195 AATTTTATTTCAAAAAAAAAAA 0.376 3 4 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 2 4 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737277 102737283 + RNA DEL TTTCCAT TTTCCAT - rs28381683 TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr11:102737277_102737283delTTTCCAT ENST00000532855.1 - 0 1007 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) CCAATATTTCTTTCCATTGTCTTCACA 0.362 4 6 --- --- --- --- LINC00639 0 broad.mit.edu 37 14 39304293 39304296 + RNA DEL CACA CACA - rs5808014 by1000genomes TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr14:39304293_39304296delCACA ENST00000553932.1 - 0 3985 CGCCCTGCTCcacacacacacaca 0.475 3 3 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 2 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763868 72763869 + RNA INS - - A TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr16:72763868_72763869insA ENST00000563328.2 + 0 164 CGGTCCAAAACAAAAAAAAAAA 0.436 6 5 --- --- --- --- JUNB 3726 broad.mit.edu 37 19 12903374 12903374 + Frame_Shift_Del DEL G G - TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr19:12903374delG ENST00000302754.4 + 1 1065 c.789delG c.(787-789)atfs p.M263fs NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 263 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CCATCAACATGGAAGACCAAG 0.706 2 4 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-DJ-A13W-01A-11D-A10S-08 TCGA-DJ-A13W-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c18a8b7-bad1-4aa4-a6df-472f89d9761c af0cf9aa-5510-4af9-9bb4-a7e25e446245 g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 2 4 --- --- --- ---