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 FAM86FP 653113 broad.mit.edu 37 12 8386966 8386966 + RNA SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:8386966C>T ENST00000427893.2 - 0 800 GGCAGGCAGCCAGCCTCCGCA 0.597000 6 48 0 0 0.00116845 0 0 NYAP1 222950 broad.mit.edu 37 7 100085944 100085944 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:100085944C>T ENST00000423930.1 + 4 759 c.600C>T c.(598-600)tcC>tcT p.S200S NYAP1_ENST00000454988.1_Silent_p.S143S|NYAP1_ENST00000300179.2_Silent_p.S200S Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 200 CTAGGGGGTCCCGAGTAGCTG 0.637000 48 11 0 0 0.000781405 0 0 TTN 7273 broad.mit.edu 37 2 179581844 179581844 + Silent SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:179581844A>G ENST00000589042.1 - 88 25841 c.25617T>C c.(25615-25617)tgT>tgC p.C8539C TTN_ENST00000591111.1_Silent_p.C8222C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.C7295C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8222 Ig-like 68. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGAGCAGAACAAGAGTCTT 0.453000 10 31 0 0 0.000442599 0 0 NEK2 4751 broad.mit.edu 37 1 211842669 211842669 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:211842669G>A ENST00000366999.4 - 6 909 c.771C>T c.(769-771)taC>taT p.Y257Y NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.Y257Y|NEK2_ENST00000540251.1_Silent_p.Y214Y NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 257 Protein kinase. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) AAGGTCGATGGTAATCCTGGG 0.373000 38 36 0 0 0.00148497 0 0 ADCY10 55811 broad.mit.edu 37 1 167814888 167814888 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:167814888G>A ENST00000367848.1 - 21 3141 c.2644C>T c.(2644-2646)Ccc>Tcc p.P882S ADCY10_ENST00000367851.4_Missense_Mutation_p.P974S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P821S|ADCY10_ENST00000485964.1_5'UTR Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 974 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TGATGATAGGGAATGAAGTCC 0.448000 40 59 0 0 0.000437636 0 0 SCARF1 8578 broad.mit.edu 37 17 1538457 1538457 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:1538457C>T ENST00000263071.4 - 11 2137 c.2088G>A c.(2086-2088)ggG>ggA p.G696G SCARF1_ENST00000348987.3_Silent_p.G610G|SCARF1_ENST00000571272.1_3'UTR NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 696 Gly-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGCGGGGCTTCCCTGCCAGCA 0.632000 21 25 0 0 0.000375601 0 0 ZNF331 55422 broad.mit.edu 37 19 54080355 54080355 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:54080355C>T ENST00000253144.9 + 7 1874 c.541C>T c.(541-543)Cat>Tat p.H181Y ZNF331_ENST00000449416.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H181Y NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H181N(1) NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TCAAAAAATTCATACTGGGGA 0.418000 T ? follicular thyroid adenoma 56 20 0 0 0.000781405 0 0 PRDM9 56979 broad.mit.edu 37 5 23527498 23527498 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:23527498G>A ENST00000296682.3 + 11 2483 c.2301G>A c.(2299-2301)caG>caA p.Q767Q NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 767 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCAGACACCAGAGGACACACA 0.582000 HNSCC(3;0.000094) 39 33 0 0 0.000509022 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751283 19751283 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr13:19751283C>T ENST00000400113.3 - 4 944 c.840G>A c.(838-840)aaG>aaA p.K280K NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 280 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CGTGGTAGGCCTTCTCGGCTG 0.602000 38 27 0 0 0.00128727 0 0 GPR75 10936 broad.mit.edu 37 2 54080278 54080278 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:54080278G>A ENST00000394705.2 - 2 1886 c.1616C>T c.(1615-1617)tCc>tTc p.S539F ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 539 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACTTTAAACGGAGGGGACTGG 0.393000 35 47 0 0 0.00128727 0 0 GIF 2694 broad.mit.edu 37 11 59611434 59611434 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:59611434C>T ENST00000541311.1 - 2 333 c.99G>A c.(97-99)ctG>ctA p.L33L GIF_ENST00000257248.2_Silent_p.L58L P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 58 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 TCATGGCAATCAGGATGCTGG 0.542000 23 24 0 0 0.00047179 0 0 CD1C 911 broad.mit.edu 37 1 158263023 158263023 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:158263023G>A ENST00000368170.3 + 5 1190 c.911G>A c.(910-912)tGg>tAg p.W304* NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 304 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TCCATGAATTGGATTGCCTTG 0.393000 94 147 0 0 0.000781405 0 0 WDR49 151790 broad.mit.edu 37 3 167245747 167245747 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:167245747G>A ENST00000308378.3 - 11 1714 c.1409C>T c.(1408-1410)tCa>tTa p.S470L WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 470 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 AGGTTGGAATGATCTTATCAG 0.403000 29 17 0 0 0.000339439 0 0 BSN 8927 broad.mit.edu 37 3 49692305 49692305 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:49692305C>T ENST00000296452.4 + 5 5430 c.5316C>T c.(5314-5316)gcC>gcT p.A1772A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1772 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGTGCCTGGCCCAGGTCAAAC 0.592000 26 14 0 0 0.00047179 0 0 DSCAM 1826 broad.mit.edu 37 21 41711158 41711158 + Silent SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr21:41711158C>A ENST00000400454.1 - 7 1872 c.1395G>T c.(1393-1395)gtG>gtT p.V465V NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 465 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGTAGCTGACCACGTTCCCCT 0.612000 10 28 1.58986e-06 1.33246e-05 0.000673444 1 0 RAB37 326624 broad.mit.edu 37 17 72667748 72667748 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:72667748C>T ENST00000340415.3 + 1 1032 c.23C>T c.(22-24)tCc>tTc p.S8F RAB37_ENST00000402449.4_Missense_Mutation_p.S8F NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 AGACCCGATTCCTACCAGGGA 0.612000 18 29 0 0 0.000375601 0 0 OR4C3 256144 broad.mit.edu 37 11 48347263 48347263 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:48347263G>A ENST00000319856.4 + 1 792 c.771G>A c.(769-771)ggG>ggA p.G257G NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGCAGATGGGAGATGCAAAG 0.473000 9 70 0 0 0.000442599 0 0 NYAP2 57624 broad.mit.edu 37 2 226447505 226447505 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:226447505G>A ENST00000272907.6 + 4 1785 c.1372G>A c.(1372-1374)Gac>Aac p.D458N NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 458 Pro-rich. TCCCCCTTACGACGCTGTGCA 0.627000 15 27 0 0 0.000566183 0 0 A2ML1 144568 broad.mit.edu 37 12 9002864 9002864 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:9002864C>T ENST00000299698.7 + 18 2408 c.2228C>T c.(2227-2229)cCt>cTt p.P743L A2ML1_ENST00000539547.1_Missense_Mutation_p.P252L NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 587 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GATCTGTTTCCTATTGGGTAA 0.502000 12 38 0 0 0.000978159 0 0 SLC6A14 11254 broad.mit.edu 37 X 115590071 115590071 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:115590071G>A ENST00000371900.4 + 14 1967 c.1879G>A c.(1879-1881)Gag>Aag p.E627K SLC6A14_ENST00000463626.1_3'UTR NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 627 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TCCTAAAAAAGAGGCTGACCA 0.383000 56 24 0 0 0.000781405 0 0 POM121L12 285877 broad.mit.edu 37 7 53103527 53103527 + Missense_Mutation SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:53103527C>A ENST00000408890.4 + 1 179 c.163C>A c.(163-165)Ctg>Atg p.L55M NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 55 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCCCTGGCCCCTGAGGTCCCT 0.697000 16 19 1.78486e-19 1.52411e-18 0.000958276 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656570 40656570 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:40656570G>A ENST00000406785.1 - 2 1040 c.851C>T c.(850-852)tCt>tTt p.S284F SLC8A1_ENST00000332839.4_Missense_Mutation_p.S284F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S284F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S284F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S284F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S284F P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 284 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTCTTAGAAGATGGCCTGTC 0.443000 69 142 0 0 0.000781405 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144877260 144877260 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:144877260G>A ENST00000369359.4 - 31 4873 c.4835C>T c.(4834-4836)tCc>tTc p.S1612F PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1612F|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1476F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1476F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1432F Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1476 NBPF. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTGAATCAGGGAATCATATTT 0.428000 T PDGFRB MPD 14 66 0 0 0.000308642 0 0 COL9A1 1297 broad.mit.edu 37 6 70983758 70983758 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:70983758C>T ENST00000357250.6 - 12 1215 c.1057G>A c.(1057-1059)Gga>Aga p.G353R COL9A1_ENST00000370499.4_Missense_Mutation_p.G110R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G110R|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 353 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACTGGAAATCCACGCGATCCA 0.289000 14 16 0 0 0.00074312 0 0 ELFN2 114794 broad.mit.edu 37 22 37771217 37771217 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr22:37771217C>T ENST00000402918.1 - 3 1143 c.358G>A c.(358-360)Gag>Aag p.E120K ELFN2_ENST00000349653.3_Missense_Mutation_p.E120K|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 120 cell surface|integral to membrane p.E120K(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGCATGCCCTCCGTCAGGTTG 0.622000 28 20 0 0 0.00127121 0 0 COL22A1 169044 broad.mit.edu 37 8 139791793 139791793 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:139791793C>T ENST00000303045.6 - 14 2109 c.1663G>A c.(1663-1665)Gag>Aag p.E555K COL22A1_ENST00000435777.1_Missense_Mutation_p.E555K NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 555 Collagen-like 2.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCTCCCAGCTCTCCTGGCTCC 0.622000 HNSCC(7;0.00092) 15 52 0 0 0.00121646 0 0 NECAB2 54550 broad.mit.edu 37 16 84027966 84027966 + Missense_Mutation SNP C C T rs79514285 byFrequency TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:84027966C>T ENST00000565691.1 + 5 1129 c.407C>T c.(406-408)cCc>cTc p.P136L NECAB2_ENST00000305202.4_Missense_Mutation_p.P219L|NECAB2_ENST00000567703.1_3'UTR Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 219 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 AGCCCCACTCCCGCCTCTGCC 0.617000 6 14 0 0 8.12818e-05 0 0 GPR63 81491 broad.mit.edu 37 6 97246954 97246954 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:97246954G>A ENST00000229955.3 - 2 999 c.654C>T c.(652-654)ccC>ccT p.P218P GPR63_ENST00000417980.1_Silent_p.P218P NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 218 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) TCTGCAGGTCGGGGTTTCCTA 0.458000 39 42 0 0 0.000589545 0 0 LRP1B 53353 broad.mit.edu 37 2 141751606 141751606 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:141751606C>T ENST00000389484.3 - 16 3573 c.2602G>A c.(2602-2604)Gat>Aat p.D868N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 868 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGCAGTCATCGTCGCCATCA 0.438000 TSP Lung(27;0.18) 33 58 0 0 0.000491102 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496687 20496687 + RNA SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:20496687A>G ENST00000555186.1 + 0 740 NR_038836.1 TGTGTTGTGAACTCCATGGTT 0.423000 7 77 0 0 0.000157383 0 0 PDZD7 79955 broad.mit.edu 37 10 102782051 102782051 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:102782051G>A ENST00000370215.3 - 5 859 c.634C>T c.(634-636)Cac>Tac p.H212Y NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 212 PDZ 2. cilium|nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) GTGTATAGGTGGACGATGCGC 0.587000 13 5 0 0 0.00185496 0 0 GCN1L1 10985 broad.mit.edu 37 12 120574381 120574381 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:120574381G>A ENST00000300648.6 - 51 6945 c.6933C>T c.(6931-6933)atC>atT p.I2311I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2311 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCAGGATGCGGATCAGAGGGC 0.592000 13 32 0 0 0.00136819 0 0 PRLR 5618 broad.mit.edu 37 5 35065986 35065986 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:35065986G>A ENST00000382002.5 - 10 1500 c.1074C>T c.(1072-1074)tcC>tcT p.S358S PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.S257S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S257S NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 358 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CAGACAAAAGGGAAGGGCTGT 0.498000 21 22 0 0 0.00188189 0 0 XPO1 7514 broad.mit.edu 37 2 61724052 61724052 + Missense_Mutation SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:61724052C>A ENST00000401558.2 - 10 1577 c.850G>T c.(850-852)Gta>Tta p.V284L XPO1_ENST00000406957.1_Missense_Mutation_p.V284L|XPO1_ENST00000404992.2_Missense_Mutation_p.V284L NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 284 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AATAGTGTTACAAATTGTTCT 0.328000 Mis CLL 8 29 1.12685e-05 9.39438e-05 0.000274275 1 0 CACNA1C 775 broad.mit.edu 37 12 2706447 2706447 + Missense_Mutation SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:2706447G>T ENST00000399655.1 + 21 3110 c.2845G>T c.(2845-2847)Gct>Tct p.A949S CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A974S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A949S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399644.1_Intron NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 949 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CATTGAAATTGCTCTGAAGGT 0.488000 21 105 4.16121e-05 0.000346003 0.000375601 1 0 CSMD3 114788 broad.mit.edu 37 8 114326902 114326902 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:114326902C>T ENST00000297405.5 - 2 543 c.299G>A c.(298-300)cGa>cAa p.R100Q CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 100 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATTCTATTTCGTTCTTCTGC 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 58 92 0 0 0.000781405 0 0 BRINP3 339479 broad.mit.edu 37 1 190195377 190195377 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:190195377T>C ENST00000367462.3 - 6 1027 c.796A>G c.(796-798)Aat>Gat p.N266D FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.N164D NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 266 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CCCTCTGAATTGCAAGCAATG 0.428000 17 42 0 0 0.00188189 0 0 HEATR4 399671 broad.mit.edu 37 14 73962038 73962038 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:73962038C>T ENST00000553558.1 - 16 3000 c.2679G>A c.(2677-2679)gaG>gaA p.E893E HEATR4_ENST00000334988.2_Silent_p.E893E|HEATR4_ENST00000560393.1_Silent_p.E846E NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CCATGACCATCTCCAGCTTGA 0.373000 24 9 0 0 0.000878237 0 0 NEK2 4751 broad.mit.edu 37 1 211842553 211842553 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:211842553G>A ENST00000366999.4 - 6 1025 c.887C>T c.(886-888)tCg>tTg p.S296L NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.S296L|NEK2_ENST00000540251.1_Missense_Mutation_p.S253L NM_002497.3 NP_002488.1 P51955 NEK2_HUMAN NIMA-related kinase 2 296 Interaction with PCNT. cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis centrosome|condensed chromosome kinetochore|cytosol|nucleolus ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity breast(2)|stomach(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546) GGAATCCTGCGATTTTTCTGG 0.443000 42 100 0 0 0.00148497 0 0 KIF18A 81930 broad.mit.edu 37 11 28104458 28104458 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:28104458C>T ENST00000263181.6 - 9 1497 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 403 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TGGTCATTTTCATTAGTGAAG 0.274000 13 47 0 0 0.000308642 0 0 SETDB1 9869 broad.mit.edu 37 1 150900198 150900198 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:150900198C>T ENST00000271640.5 + 2 198 c.8C>T c.(7-9)tCc>tTc p.S3F SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Missense_Mutation_p.S3F|SETDB1_ENST00000368962.2_Missense_Mutation_p.S3F|SETDB1_ENST00000368969.4_Missense_Mutation_p.S3F NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGCATGTCTTCCCTTCCTGGG 0.423000 36 64 0 0 0.00170553 0 0 CIDEA 1149 broad.mit.edu 37 18 12277224 12277224 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr18:12277224G>A ENST00000320477.9 + 5 680 c.615G>A c.(613-615)cgG>cgA p.R205R CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 205 DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 AGGAAGAGCGGCCATCCCTCC 0.577000 19 12 0 0 0.000295444 0 0 HLCS 3141 broad.mit.edu 37 21 38126705 38126705 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr21:38126705G>A ENST00000399120.1 - 12 3253 c.2023C>T c.(2023-2025)Cat>Tat p.H675Y HLCS_ENST00000336648.3_Missense_Mutation_p.H675Y NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 675 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CTGCCCAGATGGACTTGCTGA 0.547000 8 20 0 0 0.000274275 0 0 DPYD 1806 broad.mit.edu 37 1 97981290 97981290 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:97981290G>A ENST00000370192.3 - 13 1832 c.1732C>T c.(1732-1734)Ctt>Ttt p.L578F NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 578 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACCTTATCAAGAGAGAAAGTT 0.333000 34 53 0 0 0.000692331 0 0 NLRP1 22861 broad.mit.edu 37 17 5462137 5462137 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:5462137G>A ENST00000345221.3 - 4 2433 c.1879C>T c.(1879-1881)Caa>Taa p.Q627* NLRP1_ENST00000577119.1_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.Q627* NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 627 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) AAGAACTCTTGGAAACAGAGG 0.453000 11 37 0 0 0.000673444 0 0 RFX6 222546 broad.mit.edu 37 6 117244339 117244339 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:117244339G>A ENST00000332958.2 + 14 1523 c.1507G>A c.(1507-1509)Ggt>Agt p.G503S NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 503 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GAGTTTTTTTGGTGCTCGAGT 0.323000 22 46 0 0 0.00152264 0 0 RNF32 140545 broad.mit.edu 37 7 156469010 156469010 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:156469010G>A ENST00000311822.8 + 9 1028 c.874G>A c.(874-876)Gaa>Aaa p.E292K RNF32_ENST00000405335.1_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000432459.2_Intron|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000317955.5_Intron|RNF32_ENST00000392743.2_Intron Q9H0A6 RNF32_HUMAN ring finger protein 32 124 aggresome|endosome protein binding|zinc ion binding p.E292K(1) cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CGCATGTTTCGAAGACCCATG 0.413000 12 10 0 0 0.000978159 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891837 18891837 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:18891837G>A ENST00000317658.3 + 1 793 c.635G>A c.(634-636)aGc>aAc p.S212N NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 212 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) CTGAAAGAAAGCTTGGAAATA 0.403000 13 43 0 0 0.00136819 0 0 MYH2 4620 broad.mit.edu 37 17 10432765 10432765 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:10432765G>A ENST00000245503.5 - 25 3535 c.3151C>T c.(3151-3153)Cgc>Tgc p.R1051C MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051C|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1051 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1051C(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AGGTCCATGCGAAGTTTCTTT 0.383000 19 68 0 0 0.000375601 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634093 70634093 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:70634093C>T ENST00000381269.2 - 2 1800 c.1047G>A c.(1045-1047)aaG>aaA p.K349K SLC8A3_ENST00000528359.1_Silent_p.K349K|SLC8A3_ENST00000534137.1_Silent_p.K349K|SLC8A3_ENST00000357887.3_Silent_p.K349K|SLC8A3_ENST00000356921.2_Silent_p.K349K NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 349 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGCACGGCTCTTCTGTTGGT 0.493000 37 21 0 0 0.00195071 0 0 PTCH2 8643 broad.mit.edu 37 1 45294871 45294871 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:45294871G>A ENST00000447098.2 - 10 1340 c.1329C>T c.(1327-1329)ctC>ctT p.L443L PTCH2_ENST00000372192.3_Silent_p.L443L NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 443 SSD. protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) GCAGGGCACAGAGCCCAAGGC 0.667000 Basal Cell Nevus syndrome 13 16 0 0 0.00185496 0 0 TBC1D32 221322 broad.mit.edu 37 6 121560300 121560300 + Silent SNP G G C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:121560300G>C ENST00000275159.6 - 20 2279 c.2280C>G c.(2278-2280)tcC>tcG p.S760S TBC1D32_ENST00000398212.2_Silent_p.S760S TBC1 domain family, member 32 ATTCCAGATTGGACCATAATT 0.328000 31 73 0 0 0.00127121 0 0 GPR61 83873 broad.mit.edu 37 1 110086463 110086463 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:110086463G>A ENST00000527748.1 + 2 1502 c.819G>A c.(817-819)caG>caA p.Q273Q NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 273 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) GGGCCCCCCAGACCACCCCAC 0.652000 22 17 0 0 0.00188189 0 0 TENM3 55714 broad.mit.edu 37 4 183696080 183696080 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:183696080G>A ENST00000511685.1 + 24 5201 c.5078G>A c.(5077-5079)aGa>aAa p.R1693K TENM3_ENST00000406950.2_Missense_Mutation_p.R1693K teneurin transmembrane protein 3 GATCAGTTAAGAAACAGCTAC 0.438000 5 21 0 0 0.000602214 0 0 LINC00696 100128378 broad.mit.edu 37 3 52097287 52097287 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:52097287C>T ENST00000541313.1 - 1 280 c.281G>A c.(280-282)tGg>tAg p.W94* CTCTGTCTTCCACAGAACATT 0.542000 55 26 0 0 0.000781405 0 0 MARK3 4140 broad.mit.edu 37 14 103946816 103946816 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:103946816C>T ENST00000429436.2 + 14 2085 c.1575C>T c.(1573-1575)ggC>ggT p.G525G MARK3_ENST00000553942.1_Silent_p.G525G|MARK3_ENST00000440884.3_Silent_p.G446G|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Silent_p.G548G|MARK3_ENST00000335102.5_Silent_p.G548G|MARK3_ENST00000303622.9_Silent_p.G525G|MARK3_ENST00000216288.7_Silent_p.G509G NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 525 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TTCAGAATGGCAAAGAAAACA 0.358000 61 22 0 0 0.000781405 0 0 BAZ1B 9031 broad.mit.edu 37 7 72892240 72892240 + Missense_Mutation SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:72892240T>A ENST00000339594.4 - 7 1889 c.1551A>T c.(1549-1551)gaA>gaT p.E517D BAZ1B_ENST00000404251.1_Missense_Mutation_p.E517D NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 517 Lys-rich. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) GACTTCGCAATTCTTCTGGGA 0.428000 46 82 0 0 0.000781405 0 0 RYR3 6263 broad.mit.edu 37 15 33840330 33840330 + Splice_Site SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:33840330G>A ENST00000389232.4 + 9 810 c.e9-1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCTGCTCACAGGAGGATATTC 0.552000 4 11 0 0 0.000602214 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713473 70713473 + RNA SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:70713473G>A ENST00000530196.1 - 0 1045 NR_003951.1 ACTTATAAGTGAATTTTTTAT 0.383000 45 31 0 0 0.000680045 0 0 NKAIN2 154215 broad.mit.edu 37 6 124604253 124604253 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:124604253G>A ENST00000368417.1 + 2 217 c.157G>A c.(157-159)Gga>Aga p.G53R NKAIN2_ENST00000546092.1_Missense_Mutation_p.G53R|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Missense_Mutation_p.G38R|NKAIN2_ENST00000368416.1_Missense_Mutation_p.G53R NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 53 integral to membrane|plasma membrane p.G53R(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TGGTTTGTTTGGAACTATTCA 0.353000 19 38 0 0 0.000958276 0 0 MTR 4548 broad.mit.edu 37 1 236995338 236995338 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:236995338C>T ENST00000366577.5 + 13 1542 c.1148C>T c.(1147-1149)tCa>tTa p.S383L MTR_ENST00000535889.1_Missense_Mutation_p.S383L NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 383 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) GTTGCAGGATCAAGGAAGTTT 0.428000 29 43 0 0 0.000409698 0 0 GRIA2 2891 broad.mit.edu 37 4 158256979 158256979 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:158256979G>A ENST00000296526.7 + 10 1748 c.1423G>A c.(1423-1425)Gat>Aat p.D475N GRIA2_ENST00000393815.2_Missense_Mutation_p.D428N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D428N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D475N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D428N NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 475 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGGGGCCAGGGATGCAGACAC 0.423000 14 2 0 0 0.000308642 0 0 TECTA 7007 broad.mit.edu 37 11 120983847 120983847 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:120983847G>A ENST00000392793.1 + 5 824 c.553G>A c.(553-555)Gaa>Aaa p.E185K TECTA_ENST00000264037.2_Missense_Mutation_p.E185K O75443 TECTA_HUMAN tectorin alpha 185 NIDO. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix p.E185Q(2) TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAATTATTACGAAATCAACTG 0.572000 OREG0021430 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 35 0 0 0.00047179 0 0 MUC16 94025 broad.mit.edu 37 19 9074625 9074625 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:9074625G>A ENST00000397910.4 - 3 13024 c.12821C>T c.(12820-12822)cCa>cTa p.P4274L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4276 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGTAACCAATGGAGATGTGGC 0.483000 29 20 0 0 0.00178596 0 0 TGM7 116179 broad.mit.edu 37 15 43585097 43585097 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:43585097G>A ENST00000452443.2 - 3 253 c.249C>T c.(247-249)gtC>gtT p.V83V NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 83 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TCCCGGGCTGGACCCGGGTGA 0.537000 67 66 0 0 0.000781405 0 0 CASZ1 54897 broad.mit.edu 37 1 10719965 10719965 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:10719965G>A ENST00000377022.3 - 6 1451 c.1134C>T c.(1132-1134)gtC>gtT p.V378V CASZ1_ENST00000344008.5_Silent_p.V378V NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GGATGCCCCGGACGTCGTACT 0.721000 8 23 0 0 0.000442599 0 0 SVEP1 79987 broad.mit.edu 37 9 113238484 113238484 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:113238484C>T ENST00000374461.1 - 14 2935 c.2530G>A c.(2530-2532)Ggt>Agt p.G844S SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.G867_splice|SVEP1_ENST00000401783.2_Splice_Site_p.G867_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G844_splice Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 867 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ATTTAATTACCAATTGCAAAG 0.348000 34 28 0 0 0.000409698 0 0 DDX41 51428 broad.mit.edu 37 5 176939793 176939793 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:176939793G>A ENST00000507955.1 - 13 1910 c.1387C>T c.(1387-1389)Cat>Tat p.H463Y NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 463 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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;0.191) TTGCCCCCATGGATGGCTACG 0.587000 46 26 0 0 0.000781405 0 0 LRP1B 53353 broad.mit.edu 37 2 141108424 141108424 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:141108424C>T ENST00000389484.3 - 77 12805 c.11834G>A c.(11833-11835)gGa>gAa p.G3945E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3945 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G3945V(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTAGAAAATTCCGCCTGGATT 0.328000 TSP Lung(27;0.18) 18 48 0 0 0.00074312 0 0 ESPNL 339768 broad.mit.edu 37 2 239040160 239040160 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:239040160G>A ENST00000343063.3 + 9 3068 c.2805G>A c.(2803-2805)tgG>tgA p.W935* ESPNL_ENST00000409506.1_Nonsense_Mutation_p.W567*|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Nonsense_Mutation_p.W891* NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 935 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GTCCCGCCTGGGATACGGAGC 0.726000 11 10 0 0 0.000673444 0 0 ADAM21 8747 broad.mit.edu 37 14 70926041 70926041 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:70926041G>A ENST00000603540.1 + 2 2083 c.1825G>A c.(1825-1827)Gat>Aat p.D609N ADAM21_ENST00000267499.3_Missense_Mutation_p.D609N|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 609 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGAAGTGAAAGATGGTACTGT 0.428000 23 15 0 0 0.00047179 0 0 C12orf60 144608 broad.mit.edu 37 12 14976313 14976313 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:14976313C>T ENST00000330828.2 + 2 648 c.444C>T c.(442-444)atC>atT p.I148I C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 148 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 AATTCCCCATCATGAATCTTC 0.423000 12 47 0 0 0.000978159 0 0 FUT9 10690 broad.mit.edu 37 6 96651903 96651903 + Missense_Mutation SNP A A T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:96651903A>T ENST00000302103.5 + 3 1198 c.872A>T c.(871-873)gAt>gTt p.D291V NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 291 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CATGTGGAAGATTATAACTCT 0.383000 24 26 0 0 0.000375601 0 0 OR51S1 119692 broad.mit.edu 37 11 4869859 4869859 + Missense_Mutation SNP G G A rs142743963 byFrequency TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:4869859G>A ENST00000322101.2 - 1 655 c.580C>T c.(580-582)Cgt>Tgt p.R194C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R194C(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCCAAACGAGCCACATCT 0.552000 37 36 0 0 0.000814825 0 0 PCDH15 65217 broad.mit.edu 37 10 56128965 56128965 + Missense_Mutation SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:56128965T>A ENST00000373965.2 - 5 783 c.389A>T c.(388-390)tAc>tTc p.Y130F PCDH15_ENST00000373957.3_Missense_Mutation_p.Y108F|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y135F|PCDH15_ENST00000395446.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395442.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395440.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y108F|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y130F|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y130F|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y130F|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000373955.1_Missense_Mutation_p.Y130F NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 130 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CACTTCATGGTAGATAATAGT 0.413000 HNSCC(58;0.16) 21 13 0 0 0.00152264 0 0 GPLD1 2822 broad.mit.edu 37 6 24460549 24460549 + Silent SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:24460549A>G ENST00000230036.1 - 12 1076 c.966T>C c.(964-966)taT>taC p.Y322Y NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 322 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 CTCTTTCAGTATAGTTTATAT 0.363000 47 47 0 0 0.000781405 0 0 SLC37A2 219855 broad.mit.edu 37 11 124951319 124951319 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:124951319C>T ENST00000403796.2 + 8 998 c.697C>T c.(697-699)Cca>Tca p.P233S SLC37A2_ENST00000407458.1_Missense_Mutation_p.P233S|SLC37A2_ENST00000298280.5_Missense_Mutation_p.P233S|SLC37A2_ENST00000308074.4_Missense_Mutation_p.P233S NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 233 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TTTTCTAGACCCAGAAGATGT 0.587000 11 43 0 0 0.000673444 0 0 TIAM2 26230 broad.mit.edu 37 6 155451084 155451084 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:155451084C>T ENST00000461783.3 + 6 2000 c.727C>T c.(727-729)Ctg>Ttg p.L243L TIAM2_ENST00000318981.5_Silent_p.L243L|TIAM2_ENST00000456144.1_Silent_p.L243L|TIAM2_ENST00000529824.2_Silent_p.L243L|TIAM2_ENST00000360366.4_Silent_p.L243L|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 243 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGCAGCTCCCTGAGTTCTGA 0.672000 16 28 0 0 0.000308642 0 0 PCLO 27445 broad.mit.edu 37 7 82584652 82584652 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:82584652T>C ENST00000423517.2 - 5 5954 c.5617A>G c.(5617-5619)Agc>Ggc p.S1873G PCLO_ENST00000333891.8_Missense_Mutation_p.S1873G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1804 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTTTCCGGGCTTATTTCAAAA 0.383000 44 49 0 0 0.00195071 0 0 TDRD1 56165 broad.mit.edu 37 10 115973123 115973123 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:115973123G>A ENST00000251864.2 + 15 2003 c.1850G>A c.(1849-1851)gGa>gAa p.G617E TDRD1_ENST00000369280.1_Missense_Mutation_p.G617E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G617E|TDRD1_ENST00000369281.2_Missense_Mutation_p.G560E|TDRD1_ENST00000422662.1_Missense_Mutation_p.G221E NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 617 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCATCATTAGGAATTTGGACT 0.348000 32 15 0 0 0.000339439 0 0 RYR1 6261 broad.mit.edu 37 19 39062686 39062686 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:39062686G>A ENST00000355481.4 + 94 13890 c.13759G>A c.(13759-13761)Gac>Aac p.D4587N RYR1_ENST00000359596.3_Missense_Mutation_p.D4592N|RYR1_ENST00000360985.3_Missense_Mutation_p.D4587N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4592 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGGGAGGACGACATGGAAGG 0.602000 17 30 0 0 0.00074312 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 7 39 0 0 0.000157383 0 0 ILVBL 10994 broad.mit.edu 37 19 15234284 15234284 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:15234284G>A ENST00000263383.3 - 3 378 c.239C>T c.(238-240)cCg>cTg p.P80L ILVBL_ENST00000534378.1_5'UTR|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 80 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CACCAGCAGCGGGGAAATGTG 0.637000 17 38 0 0 0.00074312 0 0 IGF1R 3480 broad.mit.edu 37 15 99251218 99251218 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:99251218C>T ENST00000268035.6 + 2 1133 c.522C>T c.(520-522)ccC>ccT p.P174P IGF1R_ENST00000558762.1_Silent_p.P174P NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 174 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGAATAAGCCCCCAAAGGAAT 0.517000 29 51 0 0 0.00127121 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83319402 83319402 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:83319402C>T ENST00000262752.2 - 22 2128 c.2121G>A c.(2119-2121)atG>atA p.M707I RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M707I NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 707 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATGTTGCAACCATTGCTCCCT 0.398000 16 1 0 0 0.000422831 0 0 BAI3 577 broad.mit.edu 37 6 69348628 69348628 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:69348628G>A ENST00000370598.1 + 3 882 c.61G>A c.(61-63)Gga>Aga p.G21R NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 21 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GGTTATGTTTGGATTTAATGC 0.363000 50 50 0 0 0.000781405 0 0 LANCL1 10314 broad.mit.edu 37 2 211302499 211302499 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:211302499G>A ENST00000443314.1 - 6 1130 c.788C>T c.(787-789)cCa>cTa p.P263L LANCL1_ENST00000441020.3_Missense_Mutation_p.P263L|LANCL1_ENST00000450366.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.P263L|LANCL1_ENST00000431941.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000420418.1_RNA O43813 LANC1_HUMAN LanC lantibiotic synthetase component C-like 1 (bacterial) 263 cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1) 12 Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569) ACCTATACATGGAGGGTAATT 0.488000 29 29 0 0 0.00127121 0 0 SGSH 6448 broad.mit.edu 37 17 78184569 78184569 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:78184569G>A ENST00000326317.6 - 8 1277 c.1191C>T c.(1189-1191)ccC>ccT p.P397P SGSH_ENST00000534910.1_Silent_p.P194P NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 397 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CCTGGTCGATGGGAAAGGGCA 0.607000 23 59 0 0 0.000375601 0 0 GPR148 344561 broad.mit.edu 37 2 131487495 131487495 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:131487495C>T ENST00000309926.4 + 1 853 c.771C>T c.(769-771)tcC>tcT p.S257S NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 257 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) AGGGCTATTCCCGGGCCAGGG 0.572000 27 50 0 0 0.00127121 0 0 GALNT14 79623 broad.mit.edu 37 2 31215711 31215711 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:31215711G>A ENST00000349752.5 - 2 931 c.292C>T c.(292-294)Cat>Tat p.H98Y GALNT14_ENST00000356174.3_Missense_Mutation_p.H98Y|GALNT14_ENST00000420311.2_Missense_Mutation_p.H63Y|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.H78Y NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 98 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TACCTCAGATGGCGAGTGTCC 0.562000 39 46 0 0 0.000781405 0 0 SPAG17 200162 broad.mit.edu 37 1 118658037 118658037 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:118658037C>T ENST00000336338.5 - 4 408 c.343G>A c.(343-345)Gat>Aat p.D115N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 115 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCTCCACTATCCATAATTGCT 0.353000 25 39 0 0 0.000878237 0 0 SZRD1 26099 broad.mit.edu 37 1 16721554 16721554 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:16721554C>T ENST00000401088.4 + 4 553 c.378C>T c.(376-378)ccC>ccT p.P126P SZRD1_ENST00000401089.3_Silent_p.P107P|SZRD1_ENST00000492354.1_Silent_p.P106P|SZRD1_ENST00000375590.3_Silent_p.P106P|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Silent_p.P125P NM_001114600.1|NM_001271869.1 NP_001108072.1|NP_001258798.1 SUZ RNA binding domain containing 1 TCTCCCAACCCGAAGACAGCA 0.448000 13 34 0 0 0.000219431 0 0 SDK1 221935 broad.mit.edu 37 7 4152976 4152976 + Silent SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:4152976C>A ENST00000404826.2 + 24 3629 c.3490C>A c.(3490-3492)Cgg>Agg p.R1164R SDK1_ENST00000389531.3_Silent_p.R1164R NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1164 Fibronectin type-III 5. cell adhesion integral to membrane p.R1164R(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCCGTCTTCCCGGGTCATCCA 0.577000 32 123 8.88839e-20 7.61039e-19 0.000339439 1 0 BAG6 7917 broad.mit.edu 37 6 31612752 31612752 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:31612752G>A ENST00000404765.2 - 10 1629 c.1340C>T c.(1339-1341)cCc>cTc p.P447L BAG6_ENST00000375964.6_Missense_Mutation_p.P453L|BAG6_ENST00000439687.2_Missense_Mutation_p.P447L|BAG6_ENST00000362049.6_Missense_Mutation_p.P447L|BAG6_ENST00000211379.5_Missense_Mutation_p.P447L|BAG6_ENST00000375976.4_Missense_Mutation_p.P447L P46379 BAG6_HUMAN BCL2-associated athanogene 6 453 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CATGACCACGGGTTCCACACT 0.597000 76 220 0 0 0.000781405 0 0 DNER 92737 broad.mit.edu 37 2 230456304 230456304 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:230456304G>A ENST00000341772.4 - 2 711 c.577C>T c.(577-579)Caa>Taa p.Q193* NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 193 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACCTCCACTTGATCCCATTTC 0.433000 5 34 0 0 0.00116845 0 0 DNAH9 1770 broad.mit.edu 37 17 11642241 11642241 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:11642241C>T ENST00000262442.3 + 29 5927 c.5859C>T c.(5857-5859)ttC>ttT p.F1953F DNAH9_ENST00000454412.2_Silent_p.F1953F NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1953 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGCAGTGGTTCAGCTTCCTTG 0.478000 14 49 0 0 0.00074312 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386965 8386965 + RNA SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:8386965C>T ENST00000427893.2 - 0 801 TGGCAGGCAGCCAGCCTCCGC 0.602000 6 48 0 0 8.12818e-05 0 0 SAMSN1 64092 broad.mit.edu 37 21 15872983 15872983 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr21:15872983C>T ENST00000285670.2 - 7 1013 c.839G>A c.(838-840)gGa>gAa p.G280E SAMSN1_ENST00000400566.1_Missense_Mutation_p.G212E|SAMSN1_ENST00000400564.1_Missense_Mutation_p.G44E NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 212 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTTGAAGTTTCCCACTTTATT 0.388000 36 88 0 0 0.00111076 0 0 FRG2B 441581 broad.mit.edu 37 10 135440236 135440236 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:135440236C>T ENST00000443774.1 - 1 60 c.11G>A c.(10-12)gGa>gAa p.G4E FRG2B_ENST00000425520.1_Missense_Mutation_p.G4E Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 4 nucleus p.G4V(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GTCTTCATTTCCCTTTCCCAT 0.522000 22 101 0 0 0.000720815 0 0 ANKRD50 57182 broad.mit.edu 37 4 125593328 125593328 + Missense_Mutation SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:125593328T>A ENST00000504087.1 - 4 2141 c.1104A>T c.(1102-1104)gaA>gaT p.E368D ANKRD50_ENST00000515641.1_Missense_Mutation_p.E189D NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 368 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 CGTGATATAATTCCGTTATGG 0.393000 33 113 0 0 0.00111076 0 0 SLC26A7 115111 broad.mit.edu 37 8 92364076 92364076 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:92364076C>T ENST00000276609.3 + 10 1418 c.1179C>T c.(1177-1179)gtC>gtT p.V393V SLC26A7_ENST00000309536.2_Silent_p.V393V|SLC26A7_ENST00000523719.1_Silent_p.V393V|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 393 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCCTTATAGTCATCTATGCAA 0.338000 72 104 0 0 0.000781405 0 0 SETMAR 6419 broad.mit.edu 37 3 4355398 4355398 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:4355398G>A ENST00000358065.4 + 2 1040 c.973G>A c.(973-975)Ggc>Agc p.G325S SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.G325S|SETMAR_ENST00000425863.1_Missense_Mutation_p.G186S NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 312 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) CAGCATGTGTGGCTCAGCCCC 0.502000 Chromatin Structure 27 15 0 0 0.000586117 0 0 PAPPA2 60676 broad.mit.edu 37 1 176762786 176762786 + Missense_Mutation SNP T T G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:176762786T>G ENST00000367662.3 + 20 6275 c.5111T>G c.(5110-5112)aTg>aGg p.M1704R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1704 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GAGCACTGGATGGAACCTGTC 0.478000 19 65 0 0 0.00121646 0 0 FAM181A 90050 broad.mit.edu 37 14 94394883 94394883 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:94394883C>T ENST00000267594.5 + 3 745 c.438C>T c.(436-438)ggC>ggT p.G146G FAM181A_ENST00000557719.1_Silent_p.G84G|FAM181A_ENST00000557000.2_Silent_p.G84G|FAM181A_ENST00000556222.1_Silent_p.G84G NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 146 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 TGGATTTGGGCCCTGATTCCA 0.652000 6 4 0 0 8.12818e-05 0 0 CFH 3075 broad.mit.edu 37 1 196715099 196715099 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:196715099G>A ENST00000367429.4 + 21 3703 c.3463G>A c.(3463-3465)Gga>Aga p.G1155R NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1155 Sushi 19. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATGTAGAAATGGACAATGGTC 0.388000 13 41 0 0 0.00074312 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396134 38396134 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:38396134C>T ENST00000377698.3 + 2 542 c.389C>T c.(388-390)cCt>cTt p.P130L NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 130 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) AATGGGAAGCCTTTCCAAGAG 0.577000 62 33 0 0 0.000781405 0 0 HERC2 8924 broad.mit.edu 37 15 28389360 28389360 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:28389360T>C ENST00000261609.7 - 73 11270 c.11162A>G c.(11161-11163)gAc>gGc p.D3721G NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3721 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GACGCAGCGGTCAGAGAGGAG 0.537000 27 33 0 0 0.00127121 0 0 RPTOR 57521 broad.mit.edu 37 17 78820279 78820279 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:78820279C>T ENST00000306801.3 + 11 1581 c.1219C>T c.(1219-1221)Ccg>Tcg p.P407S RPTOR_ENST00000537330.1_Missense_Mutation_p.P222S|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P407S NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 407 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GCAGCACAGCCCGTTCTTCGC 0.637000 30 30 0 0 0.000339439 0 0 MUC17 140453 broad.mit.edu 37 7 100674925 100674925 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:100674925C>T ENST00000306151.4 + 3 292 c.228C>T c.(226-228)gtC>gtT p.V76V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 76 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTACAAATGTCGTGGAGCCAA 0.453000 42 18 0 0 0.000781405 0 0 AGO1 26523 broad.mit.edu 37 1 36360862 36360862 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:36360862C>T ENST00000373204.4 + 8 1225 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S AGO1_ENST00000373206.1_Missense_Mutation_p.P263S NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TACCTACCTTCCCCTAGAGGT 0.443000 21 18 0 0 0.000295444 0 0 USH2A 7399 broad.mit.edu 37 1 216040470 216040470 + Silent SNP C C T rs139348606 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:216040470C>T ENST00000366943.2 - 44 9110 c.8724G>A c.(8722-8724)gtG>gtA p.V2908V USH2A_ENST00000307340.3_Silent_p.V2908V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2908 Fibronectin type-III 15. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGTAAAACCCACACTGTTGT 0.403000 HNSCC(13;0.011) 11 42 0 0 0.000978159 0 0 SLAMF1 6504 broad.mit.edu 37 1 160582293 160582293 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:160582293G>A ENST00000302035.6 - 6 1291 c.942C>T c.(940-942)gtC>gtT p.V314V SLAMF1_ENST00000235739.5_Silent_p.V284V|SLAMF1_ENST00000538290.1_3'UTR NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 314 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CAGACTCTGGGACAGGCTCTG 0.483000 14 21 0 0 0.000958276 0 0 PTPRK 5796 broad.mit.edu 37 6 128403618 128403618 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:128403618G>A ENST00000368227.3 - 10 2107 c.1741C>T c.(1741-1743)Cca>Tca p.P581S PTPRK_ENST00000368207.3_Missense_Mutation_p.P581S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P581S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.P581S|PTPRK_ENST00000368215.3_Missense_Mutation_p.P581S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P581S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P581S|RP11-103C16.2_ENST00000417390.1_RNA Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 581 Fibronectin type-III 3. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCTGTGGCTGGACCAAAGCCT 0.418000 22 54 0 0 0.001512 0 0 ACSF2 80221 broad.mit.edu 37 17 48540791 48540791 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:48540791C>T ENST00000427954.2 + 9 1042 c.999C>T c.(997-999)ccC>ccT p.P333P ACSF2_ENST00000300441.4_Silent_p.P308P|ACSF2_ENST00000541920.1_Silent_p.P148P|ACSF2_ENST00000502667.1_Silent_p.P295P|ACSF2_ENST00000504392.1_Silent_p.P265P Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 308 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) TGCCCAACCCCCTGTACCATT 0.582000 13 31 0 0 0.00185496 0 0 GRID2 2895 broad.mit.edu 37 4 94411794 94411794 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:94411794G>A ENST00000282020.4 + 12 2121 c.1863G>A c.(1861-1863)ggG>ggA p.G621G GRID2_ENST00000510992.1_Silent_p.G526G NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 621 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CTACAGGCGGGGAAGTCCCGT 0.423000 23 64 0 0 0.000586117 0 0 UNC93B1 81622 broad.mit.edu 37 11 67770569 67770569 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:67770569G>T ENST00000227471.2 - 3 394 c.315C>A c.(313-315)ccC>ccA p.P105P UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 105 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome TGTCGATGTCGGGCAGCCCCA 0.622000 5 20 0.00116845 0.00956495 0.00116845 1 0 GRIN2B 2904 broad.mit.edu 37 12 13906414 13906414 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:13906414C>T ENST00000279593.3 - 3 1056 c.847G>A c.(847-849)Gat>Aat p.D283N NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 283 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCCATTCATCATATGATACA 0.547000 9 31 0 0 0.000274275 0 0 LINC00969 440993 broad.mit.edu 37 3 195395415 195395415 + RNA SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:195395415C>T ENST00000445430.1 + 0 822 ACTTGAGCTGCACGTCTGCCC 0.587000 5 12 0 0 0.00116845 0 0 COL3A1 1281 broad.mit.edu 37 2 189855034 189855034 + Splice_Site SNP G G A rs121912927 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:189855034G>A ENST00000304636.3 + 10 916 c.744_splice c.e10-1 p.G249_splice COL3A1_ENST00000317840.5_Splice_Site_p.G249_splice NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 249 Triple-helical region. G -> D (in EDS4).|G -> V (in EDS4). axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TATTTTTAGGGTATCAAAGGT 0.328000 14 19 0 0 0.000566183 0 0 MOGS 7841 broad.mit.edu 37 2 74689941 74689941 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:74689941G>A ENST00000233616.4 - 4 1137 c.975C>T c.(973-975)acC>acT p.T325T MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.T219T NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 325 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GAATTTTCAGGGTCACCTGCT 0.567000 51 103 0 0 0.000781405 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169104 50169104 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:50169104C>T ENST00000246785.3 + 1 282 c.24C>T c.(22-24)ttC>ttT p.F8F IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F8F|BCL2L12_ENST00000441864.2_Silent_p.F8F NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 8 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGGGCTGTTCCCGCCCCTAT 0.542000 40 27 0 0 0.000589545 0 0 ASH1L 55870 broad.mit.edu 37 1 155330170 155330170 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:155330170G>A ENST00000368346.3 - 13 7371 c.6732C>T c.(6730-6732)ctC>ctT p.L2244L ASH1L_ENST00000392403.3_Silent_p.L2239L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2244 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TAAGAGCATAGAGTCCAATCC 0.363000 29 48 0 0 0.00058488 0 0 CDKN2A 1029 broad.mit.edu 37 9 21968242 21968242 + Splice_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:21968242C>T ENST00000579755.1 - 3 793 c.e3-1 CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(6)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCGGGGATGTCTGCAGAGGGC 0.542000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 59 38 0 0 0.000781405 0 0 ARID1A 8289 broad.mit.edu 37 1 27097779 27097779 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:27097779C>T ENST00000324856.7 + 12 3739 c.3368C>T c.(3367-3369)tCc>tTc p.S1123F ARID1A_ENST00000374152.2_Missense_Mutation_p.S740F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1123F NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1123 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCTGCTGATTCCAAGAAGTCC 0.547000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 24 0 0 0.000157383 0 0 COL21A1 81578 broad.mit.edu 37 6 55990387 55990387 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:55990387G>A ENST00000244728.5 - 14 2025 c.1628C>T c.(1627-1629)tCa>tTa p.S543L COL21A1_ENST00000535941.1_Missense_Mutation_p.S543L|COL21A1_ENST00000370819.1_Missense_Mutation_p.S540L NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 543 Collagen-like 2. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AAATCCAGGTGATCCTTTGTC 0.284000 11 19 0 0 0.00185496 0 0 SLC26A9 115019 broad.mit.edu 37 1 205886434 205886434 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:205886434G>A ENST00000367135.3 - 20 2418 c.2305C>T c.(2305-2307)Cgc>Tgc p.R769C SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769C|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769C NM_052934.3 NP_443166.1 Q7LBE3 S26A9_HUMAN solute carrier family 26 (anion exchanger), member 9 769 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5) 52 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) CAGTAGCTGCGAATGTCCTCC 0.577000 42 118 0 0 0.000781405 0 0 C20orf26 26074 broad.mit.edu 37 20 20037347 20037347 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:20037347G>A ENST00000245957.5 + 2 126 c.50G>A c.(49-51)cGa>cAa p.R17Q C20orf26_ENST00000377306.1_Missense_Mutation_p.R17Q|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R17Q NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 17 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) GTTCATTGCCGAAGAACAGAA 0.348000 24 74 0 0 0.000586117 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24261580 24261580 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:24261580G>A ENST00000538205.1 + 14 1695 c.1148G>A c.(1147-1149)gGa>gAa p.G383E ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G462E|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G383E|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 462 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) GATTGCGGAGGAGATGCTCCA 0.428000 19 30 0 0 0.00152264 0 0 FAT3 120114 broad.mit.edu 37 11 92525958 92525958 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:92525958G>A ENST00000298047.6 + 8 4654 c.4637G>A c.(4636-4638)cGa>cAa p.R1546Q FAT3_ENST00000409404.2_Missense_Mutation_p.R1546Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R1396Q Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1546 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTTCCTTATCGAAGAAACTTG 0.418000 TCGA Ovarian(4;0.039) 108 297 0 0 0.000781405 0 0 PER3 8863 broad.mit.edu 37 1 7863183 7863183 + Missense_Mutation SNP C C T rs145870917 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:7863183C>T ENST00000377532.3 + 8 1173 c.949C>T c.(949-951)Cgt>Tgt p.R317C PER3_ENST00000361923.2_Missense_Mutation_p.R316C|PER3_ENST00000377541.1_Missense_Mutation_p.R316C P56645 PER3_HUMAN period circadian clock 3 316 PAS 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGAAGATCGTTCTCTGAT 0.428000 28 108 0 0 0.000409698 0 0 DYSF 8291 broad.mit.edu 37 2 71839847 71839847 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:71839847C>T ENST00000258104.3 + 39 4521 c.4244C>T c.(4243-4245)cCt>cTt p.P1415L DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.P1415L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1416L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1432L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1432L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1433L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1447L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1433L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1402L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1416L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1446L NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1415 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGCCGCCGGCCTGTGGTGGGC 0.647000 12 28 0 0 0.000219431 0 0 OR10A2 341276 broad.mit.edu 37 11 6891546 6891546 + Silent SNP C C T rs144699545 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:6891546C>T ENST00000307322.4 + 1 623 c.561C>T c.(559-561)atC>atT p.I187I NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCTACGCCATCGTCGGAACCA 0.517000 31 114 0 0 0.000491102 0 0 MYOCD 93649 broad.mit.edu 37 17 12666495 12666495 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:12666495C>T ENST00000425538.1 + 14 2695 c.2495C>T c.(2494-2496)tCc>tTc p.S832F MYOCD_ENST00000343344.4_Missense_Mutation_p.S784F|RP11-1090M7.1_ENST00000584772.1_RNA NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 784 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCTCGGCTTCCTTTGAACAA 0.507000 36 40 0 0 0.00148497 0 0 RFTN1 23180 broad.mit.edu 37 3 16450885 16450885 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:16450885C>T ENST00000334133.4 - 4 710 c.438G>A c.(436-438)aaG>aaA p.K146K RFTN1_ENST00000432519.1_Silent_p.K110K NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 146 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 CGCTCACCTTCTTAATGAACT 0.478000 18 12 0 0 0.00152264 0 0 CFTR 1080 broad.mit.edu 37 7 117149106 117149106 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:117149106G>T ENST00000003084.6 + 3 315 c.183G>T c.(181-183)ctG>ctT p.L61L CFTR_ENST00000454343.1_Silent_p.L61L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 61 respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ATAGAGAGCTGGCTTCAAAGA 0.343000 Cystic Fibrosis 6 172 0.000157383 0.0013018 0.000157383 1 0 TNXB 7148 broad.mit.edu 37 6 32065092 32065092 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:32065092G>A ENST00000375244.3 - 3 739 c.538C>T c.(538-540)Cca>Tca p.P180S TNXB_ENST00000375247.2_Missense_Mutation_p.P180S|TNXB_ENST00000479795.1_Missense_Mutation_p.P180S P22105 TENX_HUMAN tenascin XB 180 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTGAGGGTGGGGAAGAGGGA 0.632000 95 79 0 0 0.000781405 0 0 BCKDK 10295 broad.mit.edu 37 16 31121091 31121091 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:31121091C>T ENST00000394951.1 + 5 985 c.362C>T c.(361-363)aCc>aTc p.T121I BCKDK_ENST00000394950.3_Missense_Mutation_p.T121I|BCKDK_ENST00000219794.6_Missense_Mutation_p.T121I|BCKDK_ENST00000287507.3_Missense_Mutation_p.T121I O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 121 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 TGCAACCCCACCATACTGCAC 0.592000 9 27 0 0 0.000442599 0 0 FAM13C 220965 broad.mit.edu 37 10 61028361 61028361 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:61028361C>T ENST00000373867.3 - 9 1110 c.645G>A c.(643-645)cgG>cgA p.R215R FAM13C_ENST00000468840.2_Silent_p.R215R|FAM13C_ENST00000435852.2_Silent_p.R298R|FAM13C_ENST00000277705.6_Silent_p.R319R|FAM13C_ENST00000373868.2_Silent_p.R298R|FAM13C_ENST00000442566.3_Silent_p.R319R|FAM13C_ENST00000419214.2_Silent_p.R298R|FAM13C_ENST00000422313.2_Silent_p.R298R NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 298 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TCCGAATTTTCCGCTTGAGGC 0.502000 17 10 0 0 0.000422831 0 0 PTPRF 5792 broad.mit.edu 37 1 44072625 44072625 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:44072625C>T ENST00000359947.4 + 21 4183 c.3843C>T c.(3841-3843)atC>atT p.I1281I PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I629I|PTPRF_ENST00000372413.3_Silent_p.I1272I|PTPRF_ENST00000438120.1_Silent_p.I1272I|PTPRF_ENST00000372414.3_Silent_p.I1281I NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1281 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCATCGCCATCCTCTTGTTCA 0.627000 14 61 0 0 0.00152264 0 0 SLC39A11 201266 broad.mit.edu 37 17 70644968 70644968 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:70644968G>A ENST00000542342.2 - 9 1012 c.924C>T c.(922-924)gaC>gaT p.D308D SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.D301D NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 308 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 GGATGATGTCGTCCATGACCA 0.617000 6 16 0 0 0.000274275 0 0 KLK15 55554 broad.mit.edu 37 19 51330151 51330151 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:51330151C>T ENST00000326856.4 - 4 590 c.461G>A c.(460-462)gGg>gAg p.G154E KLK15_ENST00000596931.1_Missense_Mutation_p.G154E|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.G155E|KLK15_ENST00000598239.1_Missense_Mutation_p.G155E NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 155 Peptidase S1. SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2). proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) CCGGGGGCTCCCAGCGGTCCC 0.692000 15 5 0 0 0.000308642 0 0 LOC100129781 100129781 broad.mit.edu 37 16 14397839 14397839 + RNA SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:14397839G>A ENST00000570945.1 + 0 310 MIR193B_ENST00000384907.1_RNA CTCAGAATCGGGGTTTTGAGG 0.562000 63 78 0 0 0.000781405 0 0 PGC 5225 broad.mit.edu 37 6 41704716 41704716 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:41704716G>A ENST00000373025.3 - 9 1103 c.1041C>T c.(1039-1041)gtC>gtT p.V347V NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 347 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) AGGTGGGCTCGACTCCCACGG 0.572000 12 39 0 0 0.000219431 0 0 CALCB 797 broad.mit.edu 37 11 15096275 15096275 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:15096275G>A ENST00000523376.1 + 7 1306 c.44G>A c.(43-45)cGg>cAg p.R15Q CALCB_ENST00000533448.1_Missense_Mutation_p.R4Q|CALCB_ENST00000324229.6_Missense_Mutation_p.R4Q P10092 CALCB_HUMAN calcitonin-related polypeptide beta 4 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 ATGGGTTTCCGGAAGTTCTCC 0.592000 OREG0020793 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 30 0 0 0.000978159 0 0 SERTAD4 56256 broad.mit.edu 37 1 210414925 210414925 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:210414925G>A ENST00000367012.3 + 4 544 c.314G>A c.(313-315)cGa>cAa p.R105Q SERTAD4_ENST00000490620.1_3'UTR NM_019605.3 NP_062551.1 Q9NUC0 SRTD4_HUMAN SERTA domain containing 4 105 SERTA. protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) TTTGAGGAACGAGCCCACATC 0.328000 31 46 0 0 0.00058488 0 0 PLVAP 83483 broad.mit.edu 37 19 17476671 17476671 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:17476671C>T ENST00000252590.4 - 3 664 c.603G>A c.(601-603)gtG>gtA p.V201V NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 201 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCCGGGTTTTCACGCATTCAA 0.557000 11 37 0 0 0.000978159 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517880 158517880 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:158517880G>A ENST00000302617.3 - 1 15 c.16C>T c.(16-18)Ctg>Ttg p.L6L NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCTACTTCCAGAATTATGGTG 0.448000 37 48 0 0 0.000437636 0 0 MMP16 4325 broad.mit.edu 37 8 89128811 89128811 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:89128811G>A ENST00000286614.6 - 6 1289 c.1008C>T c.(1006-1008)ccC>ccT p.P336P MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 336 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GTTTGGCTCCGGGATAGGAGG 0.498000 12 78 0 0 0.00136819 0 0 CCDC148 130940 broad.mit.edu 37 2 159028745 159028745 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:159028745G>A ENST00000283233.5 - 14 1969 c.1656C>T c.(1654-1656)ttC>ttT p.F552F CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Silent_p.F561F NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 552 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GTGCTAACTCGAAGCGAAGTC 0.313000 30 46 0 0 0.00178596 0 0 KHDC3L 154288 broad.mit.edu 37 6 74072881 74072881 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:74072881G>A ENST00000370367.3 + 2 286 c.233G>A c.(232-234)cGa>cAa p.R78Q NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CACGTGAATCGATTGGACCCT 0.572000 30 30 0 0 0.000409698 0 0 PLS3 5358 broad.mit.edu 37 X 114871204 114871204 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:114871204C>T ENST00000420625.2 + 8 939 c.805C>T c.(805-807)Cca>Tca p.P269S PLS3_ENST00000355899.3_Missense_Mutation_p.P269S|PLS3_ENST00000537301.1_Missense_Mutation_p.P247S|PLS3_ENST00000539310.1_Missense_Mutation_p.P224S|PLS3_ENST00000289290.3_Missense_Mutation_p.P224S NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 269 Actin-binding 1.|CH 2. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GAAATTGTCTCCAGAAGAGCT 0.383000 104 18 0 0 0.000781405 0 0 NPHP1 4867 broad.mit.edu 37 2 110935991 110935991 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:110935991G>A ENST00000418527.1 - 4 368 c.338C>T c.(337-339)tCc>tTc p.S113F NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000393272.3_Intron O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 0 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 AGGTAGAAAGGAAGCATACTC 0.338000 45 80 0 0 0.000781405 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417712 150417712 + Missense_Mutation SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:150417712T>A ENST00000307194.5 + 3 760 c.620T>A c.(619-621)aTg>aAg p.M207K NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGCTGGGGATGGTCGAGGGC 0.687000 6 16 0 0 0.00116845 0 0 EBF1 1879 broad.mit.edu 37 5 158250326 158250326 + Splice_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:158250326C>T ENST00000313708.6 - 8 919 c.e8-1 EBF1_ENST00000517373.1_Splice_Site|EBF1_ENST00000518836.1_Splice_Site|EBF1_ENST00000380654.4_Splice_Site NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACACCACGACCTGGAGACATA 0.413000 T HMGA2 lipoma 12 1 0 0 0.000308642 0 0 DOCK10 55619 broad.mit.edu 37 2 225781460 225781460 + Silent SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:225781460T>A ENST00000409592.3 - 3 380 c.267A>T c.(265-267)acA>acT p.T89T DOCK10_ENST00000258390.7_Silent_p.T95T|DOCK10_ENST00000474102.1_5'UTR Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 95 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTTCAGGTACTGTTGAGTACA 0.443000 8 13 0 0 0.000274275 0 0 CD163 9332 broad.mit.edu 37 12 7639582 7639582 + Splice_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:7639582C>T ENST00000359156.4 - 9 2253 c.2050_splice c.e9-1 p.G684_splice CD163_ENST00000396620.3_Splice_Site_p.G717_splice|CD163_ENST00000432237.2_Splice_Site_p.G684_splice|CD163_ENST00000541972.1_Splice_Site_p.G672_splice NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 684 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGACTGGTTTCCTGCAAACAC 0.458000 18 19 0 0 0.00074312 0 0 LUZP2 338645 broad.mit.edu 37 11 24753676 24753676 + Translation_Start_Site SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:24753676G>A ENST00000533227.1 + 0 222 LUZP2_ENST00000336930.6_Missense_Mutation_p.D65N|LUZP2_ENST00000531187.1_3'UTR NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CTTAAAAAACGATGAGCAGTC 0.338000 11 11 0 0 0.00185496 0 0 CAAP1 79886 broad.mit.edu 37 9 26842533 26842533 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:26842533G>A ENST00000333916.5 - 6 940 c.852C>T c.(850-852)gtC>gtT p.V284V CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Silent_p.V139V NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 284 CTTCACTTTGGACTGTATTTT 0.458000 86 73 0 0 0.000781405 0 0 UTP23 84294 broad.mit.edu 37 8 117778754 117778754 + Translation_Start_Site SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:117778754G>A ENST00000309822.2 + 0 13 UTP23_ENST00000357148.3_De_novo_Start_OutOfFrame NM_032334.2 NP_115710.2 Q9BRU9 UTP23_HUMAN UTP23, small subunit (SSU) processome component, homolog (yeast) rRNA processing nucleolus breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 12 TTCATTTCCGGGTGAAACTGG 0.602000 OREG0018934 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 10 0 0 8.12818e-05 0 0 ATP13A2 23400 broad.mit.edu 37 1 17327006 17327006 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:17327006G>A ENST00000452699.1 - 9 903 c.714C>T c.(712-714)ttC>ttT p.F238F ATP13A2_ENST00000341676.5_Silent_p.F238F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.F243F NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 243 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) TGAAGGCCTGGAACCCATAGT 0.647000 10 13 0 0 0.00185496 0 0 SUCO 51430 broad.mit.edu 37 1 172558496 172558496 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:172558496C>T ENST00000367723.3 + 17 2835 c.2711C>T c.(2710-2712)tCt>tTt p.S904F SUCO_ENST00000263688.3_Missense_Mutation_p.S752F NM_016227.2 NP_057311.2 SUN domain containing ossification factor GTATCTGAGTCTGTTGAATAT 0.388000 33 36 0 0 0.000692331 0 0 GLT1D1 144423 broad.mit.edu 37 12 129442128 129442128 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:129442128C>T ENST00000442111.2 + 11 907 c.819C>T c.(817-819)atC>atT p.I273I GLT1D1_ENST00000542193.1_Silent_p.I190I|GLT1D1_ENST00000281703.6_Silent_p.I193I|GLT1D1_ENST00000537468.1_Silent_p.I278I Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 273 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) CCAGGAACATCCCCGGGAATG 0.498000 5 32 0 0 0.000602214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526135 176526135 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:176526135C>T ENST00000367662.3 + 2 1841 c.677C>T c.(676-678)tCc>tTc p.S226F PAPPA2_ENST00000367661.3_Missense_Mutation_p.S226F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 226 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCAAGCATTCCCTTAAACAC 0.547000 51 57 0 0 0.000781405 0 0 CLHC1 130162 broad.mit.edu 37 2 55445100 55445100 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:55445100A>G ENST00000401408.1 - 4 557 c.212T>C c.(211-213)cTt>cCt p.L71P CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_5'UTR|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.L71P NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 GATTGAAGTAAGAATGGATTT 0.313000 19 48 0 0 0.00188189 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408500 105408500 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:105408500C>T ENST00000333244.5 - 7 13407 c.13288G>A c.(13288-13290)Gag>Aag p.E4430K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4430 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATGTCCACCTCCATGCTGGGC 0.607000 47 14 0 0 0.000589545 0 0 TTN 7273 broad.mit.edu 37 2 179606177 179606177 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:179606177G>A ENST00000589042.1 - 48 12007 c.11783C>T c.(11782-11784)tCt>tTt p.S3928F TTN_ENST00000591111.1_Missense_Mutation_p.S3611F|TTN_ENST00000342175.6_Missense_Mutation_p.S3757F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3690F|TTN_ENST00000460472.2_Missense_Mutation_p.S3565F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3611 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTTCCAGAGATTTTGCCAC 0.428000 87 76 0 0 0.000781405 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171971 42171971 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:42171971G>A ENST00000320955.6 - 15 3130 c.2903C>T c.(2902-2904)tCc>tTc p.S968F NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 968 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GATTTGTGTGGAGTTCCCAGG 0.587000 34 33 0 0 0.00058488 0 0 PREX2 80243 broad.mit.edu 37 8 69129884 69129884 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:69129884C>T ENST00000288368.4 + 38 4915 c.4638C>T c.(4636-4638)atC>atT p.I1546I NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1546 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGCAAGCCATCATTCTGGCCA 0.547000 10 22 0 0 0.000978159 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774328 140774328 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:140774328G>A ENST00000398604.2 + 1 1948 c.1948G>A c.(1948-1950)Ggc>Agc p.G650S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGACCATGGCCAGCCCCC 0.667000 20 9 0 0 0.000375601 0 0 BCL3 602 broad.mit.edu 37 19 45262001 45262001 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:45262001G>T ENST00000164227.5 + 8 1324 c.1080G>T c.(1078-1080)ggG>ggT p.G360G NM_005178.4 NP_005169.2 P20749 BCL3_HUMAN B-cell CLL/lymphoma 3 360 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm protein binding, bridging|transcription factor binding kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung NSC(12;0.000698)|all_lung(12;0.002) Ovarian(192;0.0728) TCCTGAGGGGGAAGGCCACCC 0.642000 T IGH@ CLL 25 61 3.00307e-07 2.53024e-06 0.001512 1 0 JPH2 57158 broad.mit.edu 37 20 42744480 42744480 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:42744480G>A ENST00000372980.3 - 4 2707 c.1835C>T c.(1834-1836)cCc>cTc p.P612L NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 612 Pro-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCAGGCTCGGGGCCTCGGAG 0.741000 9 4 0 0 0.000274275 0 0 CALCB 797 broad.mit.edu 37 11 15098881 15098881 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:15098881C>T ENST00000523376.1 + 9 1569 c.307C>T c.(307-309)Cgg>Tgg p.R103W CALCB_ENST00000533448.1_Missense_Mutation_p.R92W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W P10092 CALCB_HUMAN calcitonin-related polypeptide beta 92 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 TGTGACTCATCGGCTGGCAGG 0.567000 15 32 0 0 0.000422831 0 0 NPY4R 5540 broad.mit.edu 37 10 47086833 47086833 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:47086833G>A ENST00000374312.1 + 3 469 c.50G>A c.(49-51)gGt>gAt p.G17D NPY4R_ENST00000395716.1_Missense_Mutation_p.G17D NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TCTCCACAAGGTGAAAACAGA 0.483000 22 38 0 0 0.00047179 0 0 KLK3 354 broad.mit.edu 37 19 51361337 51361337 + Missense_Mutation SNP G G A rs138565183 byFrequency TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:51361337G>A ENST00000360617.3 + 3 259 c.259G>A c.(259-261)Ggc>Agc p.G87S KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.G87S|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.G87S P07288 KLK3_HUMAN kallikrein-related peptidase 3 87 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TGAAGACACAGGCCAGGTATT 0.547000 23 6 0 0 0.000720815 0 0 OR4S2 219431 broad.mit.edu 37 11 55418983 55418983 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:55418983G>A ENST00000312422.2 + 1 604 c.604G>A c.(604-606)Ggt>Agt p.G202S NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) AGCCAACAGTGGTACCATTGC 0.458000 68 67 0 0 0.000781405 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55381350 55381350 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:55381350G>A ENST00000398661.2 - 5 570 c.439C>T c.(439-441)Cgc>Tgc p.R147C HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 147 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) ACAGGATAGCGAACTCCTGGA 0.343000 46 55 0 0 0.000781405 0 0 DENND6B 414918 broad.mit.edu 37 22 50756380 50756380 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr22:50756380G>A ENST00000413817.2 - 4 400 c.329C>T c.(328-330)gCc>gTc p.A110V NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B CCTGTCGTCGGCATGCCAGGG 0.657000 15 13 0 0 0.00121646 0 0 TTN 7273 broad.mit.edu 37 2 179427744 179427744 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:179427744G>T ENST00000589042.1 - 326 83339 c.83115C>A c.(83113-83115)ccC>ccA p.P27705P TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.P26064P|TTN_ENST00000342175.6_Silent_p.P18832P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P25137P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P18765P|TTN_ENST00000460472.2_Silent_p.P18640P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26064 Fibronectin type-III 102. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P18832P(1)|p.P25135P(1)|p.P18765P(1)|p.P18640P(1)|p.P25137P(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTAACTTCGGGTTCTGGTC 0.443000 6 131 0.00116845 0.00956495 0.00116845 1 0 MAGEC3 139081 broad.mit.edu 37 X 140953391 140953391 + Splice_Site SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:140953391G>A ENST00000298296.1 + 2 258 c.258_splice c.e2+1 p.K86_splice NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 86 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) CATACTTCAAGGTAAGGACTC 0.537000 26 15 0 0 0.000339439 0 0 PCLO 27445 broad.mit.edu 37 7 82585079 82585079 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:82585079G>A ENST00000423517.2 - 5 5527 c.5190C>T c.(5188-5190)tcC>tcT p.S1730S PCLO_ENST00000333891.8_Silent_p.S1730S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1661 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGATGTAGGGGATGTACCAG 0.498000 53 68 0 0 0.000781405 0 0 CNOT1 23019 broad.mit.edu 37 16 58610468 58610468 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:58610468G>A ENST00000317147.5 - 14 1935 c.1603C>T c.(1603-1605)Cgc>Tgc p.R535C CNOT1_ENST00000441024.2_Missense_Mutation_p.R535C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R535C NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 535 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ATAAGTTGGCGAATTGAGGGA 0.408000 11 32 0 0 0.000673444 0 0 MYT1 4661 broad.mit.edu 37 20 62871117 62871117 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:62871117C>T ENST00000536311.1 + 22 3543 c.3179C>T c.(3178-3180)tCc>tTc p.S1060F MYT1_ENST00000328439.1_Missense_Mutation_p.S1033F Q01538 MYT1_HUMAN myelin transcription factor 1 1033 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GCACAGATCTCCTCCATGGAG 0.587000 30 20 0 0 0.000339439 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041332 234041332 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:234041332G>A ENST00000366618.3 + 2 256 c.111G>A c.(109-111)caG>caA p.Q37Q NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) TCAGCCCCCAGCTCCGGCAGC 0.672000 16 12 0 0 0.000308642 0 0 C11orf45 219833 broad.mit.edu 37 11 128773324 128773324 + Silent SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:128773324T>C ENST00000310799.3 - 3 412 c.219A>G c.(217-219)gtA>gtG p.V73V C11orf45_ENST00000524878.1_Silent_p.V73V|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000530168.1_5'UTR NM_001256088.1|NM_145013.2 NP_001243017.1|NP_659450.1 Q8TAV5 CK045_HUMAN chromosome 11 open reading frame 45 73 extracellular region endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2) 7 all_hematologic(175;0.0641) Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195) AGGTTCTGGTTACTATGGCAT 0.552000 12 30 0 0 0.00185496 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275011 2275011 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:2275011G>A ENST00000242257.8 - 3 515 c.487C>T c.(487-489)Cgg>Tgg p.R163W FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R69W NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 163 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TCGAGGTCCCGGAACCCTGTG 0.577000 14 30 0 0 0.000308642 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70422379 70422379 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:70422379G>A ENST00000393640.4 - 3 2711 c.604C>T c.(604-606)Cct>Tct p.P202S RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.P202S Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 202 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) GCACTCTCAGGGTACATGAAA 0.592000 11 66 0 0 0.000978159 0 0 PUM1 9698 broad.mit.edu 37 1 31437599 31437599 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:31437599G>A ENST00000373747.3 - 14 2347 c.2248C>T c.(2248-2250)Cct>Tct p.P750S PUM1_ENST00000423018.2_Missense_Mutation_p.P605S|PUM1_ENST00000373742.2_Missense_Mutation_p.P690S|PUM1_ENST00000257075.5_Missense_Mutation_p.P749S|PUM1_ENST00000373741.4_Missense_Mutation_p.P785S|PUM1_ENST00000440538.2_Missense_Mutation_p.P723S|PUM1_ENST00000426105.2_Missense_Mutation_p.P749S|PUM1_ENST00000424085.2_Missense_Mutation_p.P507S NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 749 Ser-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) CCCTGACTAGGGAGAGGCATG 0.502000 62 67 0 0 0.000781405 0 0 EFHD2 79180 broad.mit.edu 37 1 15752398 15752398 + Silent SNP C C T rs146542005 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:15752398C>T ENST00000375980.4 + 2 417 c.340C>T c.(340-342)Ctg>Ttg p.L114L NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family, member D2 114 EF-hand 1. membrane raft large_intestine(1)|skin(1) 2 Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CTTCATCGACCTGATGGAGCT 0.542000 19 68 0 0 0.000295444 0 0 TIAM2 26230 broad.mit.edu 37 6 155451067 155451067 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:155451067C>T ENST00000461783.3 + 6 1983 c.710C>T c.(709-711)tCc>tTc p.S237F TIAM2_ENST00000318981.5_Missense_Mutation_p.S237F|TIAM2_ENST00000456144.1_Missense_Mutation_p.S237F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S237F|TIAM2_ENST00000360366.4_Missense_Mutation_p.S237F|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 237 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CGCCTGCGGTCCAGCAAAGGC 0.652000 14 22 0 0 0.000566183 0 0 HK2 3099 broad.mit.edu 37 2 75101035 75101035 + Missense_Mutation SNP A A T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:75101035A>T ENST00000290573.2 + 6 1256 c.656A>T c.(655-657)tAt>tTt p.Y219F HK2_ENST00000409174.1_Missense_Mutation_p.Y191F NM_000189.4 NP_000180.2 P52789 HXK2_HUMAN hexokinase 2 219 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 ACCTGTGGTTATGATGACCAC 0.532000 6 31 0 0 8.12818e-05 0 0 NOVA1 4857 broad.mit.edu 37 14 26917366 26917366 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:26917366C>T ENST00000539517.2 - 5 1640 c.1323G>A c.(1321-1323)ggG>ggA p.G441G NOVA1_ENST00000465357.2_Silent_p.G417G|NOVA1_ENST00000267422.7_Silent_p.G319G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 444 KH 3. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CTAATGTTTTCCCTCCTTTGC 0.433000 17 12 0 0 0.000566183 0 0 CA2 760 broad.mit.edu 37 8 86389385 86389385 + Missense_Mutation SNP G G C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:86389385G>C ENST00000285379.5 + 6 774 c.544G>C c.(544-546)Ggc>Cgc p.G182R NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 182 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CGATCCTCGTGGCCTCCTTCC 0.502000 63 121 0 0 0.000781405 0 0 APOB 338 broad.mit.edu 37 2 21229057 21229057 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:21229057G>A ENST00000233242.1 - 26 10810 c.10683C>T c.(10681-10683)tcC>tcT p.S3561S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3561 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) GCTCCCAGAGGGAATATATGC 0.463000 216 311 0 0 0.000781405 0 0 TMEM225 338661 broad.mit.edu 37 11 123755310 123755310 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:123755310G>A ENST00000375026.2 - 2 431 c.215C>T c.(214-216)tCg>tTg p.S72L NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 72 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 GCCAAGGCTCGACGTCATCAT 0.408000 26 32 0 0 0.000720815 0 0 C15orf52 388115 broad.mit.edu 37 15 40632145 40632145 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:40632145G>A ENST00000559313.1 - 2 231 c.216C>T c.(214-216)gcC>gcT p.A72A C15orf52_ENST00000557973.1_5'UTR NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 72 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) TCTTGCGCAGGGCAACTATCC 0.637000 8 33 0 0 0.000442599 0 0 MYLK2 85366 broad.mit.edu 37 20 30418840 30418840 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:30418840G>A ENST00000375994.2 + 9 1593 c.1320G>A c.(1318-1320)aaG>aaA p.K440K MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.K440K Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 440 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGAAGCTGAAGGTGAACTTTG 0.557000 12 44 0 0 0.00136819 0 0 ATXN2 6311 broad.mit.edu 37 12 111956184 111956184 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:111956184G>A ENST00000377617.3 - 9 1675 c.1514C>T c.(1513-1515)tCc>tTc p.S505F ATXN2_ENST00000389153.4_Missense_Mutation_p.S240F|ATXN2_ENST00000550104.1_Missense_Mutation_p.S505F|ATXN2_ENST00000542287.2_Missense_Mutation_p.S240F|ATXN2_ENST00000535949.1_Missense_Mutation_p.S216F NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 505 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 ACTTCCCCAGGATATGACTTC 0.428000 44 39 0 0 0.000589545 0 0 ESR2 2100 broad.mit.edu 37 14 64699862 64699862 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:64699862G>A ENST00000341099.4 - 9 2003 c.1586C>T c.(1585-1587)tCt>tTt p.S529F ESR2_ENST00000555278.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.S438F|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron NM_001437.2 NP_001428.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 529 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GCGTCACTGAGACTGTGGGTT 0.602000 16 10 0 0 0.000422831 0 0 MYH1 4619 broad.mit.edu 37 17 10404514 10404514 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:10404514C>T ENST00000226207.5 - 27 3745 c.3651G>A c.(3649-3651)gtG>gtA p.V1217V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1217 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTTCTGCTTCACTCGCTGCA 0.532000 29 34 0 0 0.00178596 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808853 18808853 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:18808853G>A ENST00000400664.1 + 1 1430 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 460 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGTGATGAGCGAAAACTACCT 0.642000 30 37 0 0 0.000409698 0 0 LIPI 149998 broad.mit.edu 37 21 15537607 15537607 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr21:15537607C>T ENST00000344577.2 - 6 926 c.901G>A c.(901-903)Gat>Aat p.D301N LIPI_ENST00000536861.1_Missense_Mutation_p.D280N NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 280 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GTCTTGTAATCTTTGTATGAA 0.343000 27 34 0 0 0.000878237 0 0 PLXNA3 55558 broad.mit.edu 37 X 153692629 153692629 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:153692629G>A ENST00000369682.3 + 8 1976 c.1801G>A c.(1801-1803)Gag>Aag p.E601K NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 601 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCCCTCCAGGAGCTCCGAGC 0.701000 5 1 0 0 0.00116845 0 0 PLA2G7 7941 broad.mit.edu 37 6 46684775 46684775 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:46684775G>A ENST00000274793.7 - 3 364 c.168C>T c.(166-168)atC>atT p.I56I PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Silent_p.I11I|PLA2G7_ENST00000537365.1_Silent_p.I56I NM_005084.3 NP_005075.3 Q13093 PAFA_HUMAN phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) 56 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding p.I56I(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTCCCCGGGGGATTTTAGTTT 0.378000 19 55 0 0 0.00121646 0 0 MXRA5 25878 broad.mit.edu 37 X 3227970 3227970 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:3227970C>T ENST00000217939.6 - 7 8428 c.8274G>A c.(8272-8274)atG>atA p.M2758I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2758 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGGAATCCCCATAGCCATGC 0.572000 30 6 0 0 0.001512 0 0 PDE4C 5143 broad.mit.edu 37 19 18324186 18324186 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:18324186G>T ENST00000355502.3 - 17 2471 c.1600C>A c.(1600-1602)Cga>Aga p.R534R PDE4C_ENST00000262805.11_Silent_p.R502R|PDE4C_ENST00000594465.2_Silent_p.R534R|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Silent_p.R534R|PDE4C_ENST00000447275.2_Silent_p.R428R|PDE4C_ENST00000539010.1_Silent_p.R303R Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 534 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) ACCTGGATTCGGTCGGAATAG 0.438000 4 35 0.00024832 0.00204864 0.00024832 1 0 C12orf50 160419 broad.mit.edu 37 12 88420737 88420737 + Translation_Start_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:88420737C>T ENST00000298699.2 - 2 183 c.3G>A c.(1-3)atG>atA p.M1I C12orf50_ENST00000550553.1_Start_Codon_SNP_p.M1I NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 1 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CCTGCATTTCCATGTGTCTAA 0.388000 20 60 0 0 0.000295444 0 0 CSMD1 64478 broad.mit.edu 37 8 2818684 2818684 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:2818684C>T ENST00000602557.1 - 63 10239 c.9684G>A c.(9682-9684)caG>caA p.Q3228Q CSMD1_ENST00000602723.1_Silent_p.Q3051Q|CSMD1_ENST00000537824.1_Silent_p.Q3227Q|CSMD1_ENST00000400186.3_Silent_p.Q3051Q|CSMD1_ENST00000520002.1_Silent_p.Q3228Q|CSMD1_ENST00000542608.1_Silent_p.Q3050Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3228 Sushi 27. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGAGCTATTCTGTATTCCAA 0.348000 22 33 0 0 0.00106085 0 0 TTLL7 79739 broad.mit.edu 37 1 84383305 84383305 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:84383305G>A ENST00000260505.8 - 14 1946 c.1569C>T c.(1567-1569)acC>acT p.T523T TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 523 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTCGAGTCTTGGTAGTTTTTC 0.353000 22 44 0 0 0.000295444 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75377988 75377988 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:75377988G>A ENST00000555647.1 - 7 914 c.627C>T c.(625-627)agC>agT p.S209S RPS6KL1_ENST00000354625.2_Silent_p.S178S|RPS6KL1_ENST00000358328.4_Silent_p.S209S|RPS6KL1_ENST00000557413.1_Silent_p.S209S Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 209 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) TGGAGTCCTCGCTCACAAAGT 0.607000 16 27 0 0 0.00074312 0 0 C11orf40 143501 broad.mit.edu 37 11 4593511 4593511 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:4593511C>T ENST00000307616.1 - 3 321 c.322G>A c.(322-324)Gaa>Aaa p.E108K NM_144663.1 NP_653264.1 Q8WZ69 CK040_HUMAN chromosome 11 open reading frame 40 108 large_intestine(3)|lung(1)|ovary(2)|stomach(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) GAAACACGTTCCAGATAGCAA 0.443000 17 20 0 0 0.00121646 0 0 TTN 7273 broad.mit.edu 37 2 179495873 179495873 + Missense_Mutation SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:179495873C>A ENST00000589042.1 - 237 44126 c.43902G>T c.(43900-43902)aaG>aaT p.K14634N TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K12993N|TTN_ENST00000342175.6_Missense_Mutation_p.K5761N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K12066N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5694N|TTN_ENST00000460472.2_Missense_Mutation_p.K5569N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12993 Ig-like 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCATCTGCCTTAATAACAG 0.398000 19 63 2.35188e-11 1.99752e-10 0.00074312 1 0 MBOAT2 129642 broad.mit.edu 37 2 9008601 9008601 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:9008601G>A ENST00000305997.3 - 9 1160 c.962C>T c.(961-963)tCc>tTc p.S321F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 321 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTCAAATTGGAAATTAAGTC 0.348000 46 101 0 0 0.000781405 0 0 SMARCA4 6597 broad.mit.edu 37 19 11105632 11105632 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:11105632G>A ENST00000358026.2 + 9 1832 c.1548G>A c.(1546-1548)aaG>aaA p.K516K SMARCA4_ENST00000413806.3_Silent_p.K516K|SMARCA4_ENST00000444061.3_Silent_p.K516K|SMARCA4_ENST00000590574.1_Silent_p.K516K|SMARCA4_ENST00000589677.1_Silent_p.K516K|SMARCA4_ENST00000429416.3_Silent_p.K516K|SMARCA4_ENST00000541122.2_Silent_p.K516K|SMARCA4_ENST00000344626.4_Silent_p.K516K|SMARCA4_ENST00000450717.3_Silent_p.K516K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 516 HSA. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGGAGCAGAAGAAAGAGAACG 0.547000 """F, N, Mis""" NSCLC 7 11 0 0 0.000442599 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 73 17 0 0 0.000781405 0 0 EXPH5 23086 broad.mit.edu 37 11 108382857 108382857 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:108382857G>A ENST00000265843.4 - 6 3487 c.3377C>T c.(3376-3378)cCc>cTc p.P1126L EXPH5_ENST00000525344.1_Missense_Mutation_p.P1119L|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1050L|EXPH5_ENST00000443411.1_Missense_Mutation_p.P938L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1126 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTCCCCTGAGGGACATGACAT 0.483000 27 35 0 0 0.00106085 0 0 CFHR4 10877 broad.mit.edu 37 1 196887394 196887394 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:196887394G>A ENST00000367416.2 + 10 1729 c.1592G>A c.(1591-1593)gGa>gAa p.G531E CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 p.G285E(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 CAGTTAAAAGGAAAAAGTGAC 0.279000 19 61 0 0 0.00188189 0 0 PDE3A 5139 broad.mit.edu 37 12 20766445 20766445 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:20766445C>T ENST00000359062.3 + 3 1120 c.1080C>T c.(1078-1080)ctC>ctT p.L360L PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 360 HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTACCGACCTCCTGGCAGACC 0.552000 19 67 0 0 0.000958276 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73166004 73166004 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:73166004G>A ENST00000545377.1 + 21 2712 c.2536G>A c.(2536-2538)Gat>Aat p.D846N ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D533N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D846N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D846N|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D846N|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.D846N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D846N NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GCAGGAGAAGGATGTCATCAA 0.438000 18 8 0 0 0.000566183 0 0 SIRT5 23408 broad.mit.edu 37 6 13592077 13592077 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:13592077C>T ENST00000606117.1 + 5 722 c.426C>T c.(424-426)atC>atT p.I142I SIRT5_ENST00000397350.2_Silent_p.I34I|SIRT5_ENST00000379262.4_Silent_p.I142I|SIRT5_ENST00000359782.3_Silent_p.I142I NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 142 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) CCCAGAACATCGATGAGCTGC 0.622000 21 22 0 0 0.000586117 0 0 HOMER2 9455 broad.mit.edu 37 15 83523433 83523433 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:83523433G>A ENST00000304231.8 - 6 839 c.647C>T c.(646-648)tCc>tTc p.S216F HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000399166.2_Intron|HOMER2_ENST00000450735.2_Missense_Mutation_p.S205F NM_199330.2 NP_955362.1 Q9NSB8 HOME2_HUMAN homer homolog 2 (Drosophila) 216 metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 ACGGCAGATGGAGAACTGCCT 0.627000 7 15 0 0 0.000157383 0 0 AHNAK 79026 broad.mit.edu 37 11 62300296 62300296 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:62300296G>A ENST00000378024.4 - 5 1867 c.1593C>T c.(1591-1593)ggC>ggT p.G531G AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 531 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCACTTGAGGGCCTTTAACAT 0.507000 37 76 0 0 0.00111076 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43826984 43826984 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:43826984G>A ENST00000420765.1 - 31 4372 c.4190C>T c.(4189-4191)aCt>aTt p.T1397I PPIP5K1_ENST00000334933.4_Missense_Mutation_p.T1372I|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.T1373I|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.T1393I|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.T1372I|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.T1370I|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.T1370I|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.T1397I NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 1397 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GATCGCAGAAGTCTCCTGGGC 0.547000 24 50 0 0 0.000295444 0 0 POF1B 79983 broad.mit.edu 37 X 84561241 84561241 + Silent SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:84561241T>C ENST00000262753.4 - 12 1408 c.1263A>G c.(1261-1263)gaA>gaG p.E421E POF1B_ENST00000373145.3_Silent_p.E421E NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 421 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 AATATTCCAGTTCTTTTAGTC 0.338000 72 16 0 0 0.000781405 0 0 MRI1 84245 broad.mit.edu 37 19 13875469 13875469 + Nonsense_Mutation SNP A A T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:13875469A>T ENST00000319545.8 + 1 124 c.67A>T c.(67-69)Aag>Tag p.K23* MRI1_ENST00000040663.6_Nonsense_Mutation_p.K23* NM_032285.2 NP_115661.1 Q9BV20 MTNA_HUMAN methylthioribose-1-phosphate isomerase 1 23 L-methionine salvage from methylthioadenosine cell projection|cytoplasm|nucleus identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 GCTGCTGCCCAAGCAGAGCCG 0.726000 15 25 0 0 0.000308642 0 0 GPR152 390212 broad.mit.edu 37 11 67219614 67219614 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:67219614C>T ENST00000312457.2 - 1 586 c.582G>A c.(580-582)agG>agA p.R194R NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 194 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCTCCAGCATCCTCAGCGACA 0.657000 10 30 0 0 0.000978159 0 0 PRKAA2 5563 broad.mit.edu 37 1 57159492 57159492 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:57159492C>T ENST00000371244.4 + 5 596 c.530C>T c.(529-531)cCa>cTa p.P177L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 177 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TGCGGATCTCCAAATTATGCA 0.308000 95 129 0 0 0.000781405 0 0 APC2 10297 broad.mit.edu 37 19 1466377 1466377 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:1466377G>A ENST00000535453.1 + 14 4790 c.3077G>A c.(3076-3078)cGg>cAg p.R1026Q APC2_ENST00000233607.2_Missense_Mutation_p.R1026Q|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R752Q O95996 APC2_HUMAN adenomatosis polyposis coli 2 1026 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGGGCCCGGAAGCAGGCC 0.667000 6 5 0 0 8.12818e-05 0 0 OR5P2 120065 broad.mit.edu 37 11 7818447 7818447 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:7818447A>G ENST00000329434.2 - 1 73 c.43T>C c.(43-45)Ttc>Ctc p.F15L RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 15 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATAGGATGAACCCCGTCAGA 0.413000 6 48 0 0 8.12818e-05 0 0 C1R 715 broad.mit.edu 37 12 7187920 7187920 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:7187920G>T ENST00000542285.1 - 11 2027 c.1878C>A c.(1876-1878)atC>atA p.I626I P00736 C1R_HUMAN complement component 1, r subcomponent 678 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGCTGCACCCGATGCCCCAGG 0.577000 13 31 1.3612e-06 1.14384e-05 0.000308642 1 0 HGF 3082 broad.mit.edu 37 7 81392179 81392179 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:81392179C>T ENST00000222390.5 - 2 324 c.98G>A c.(97-99)aGg>aAg p.R33K HGF_ENST00000423064.2_Missense_Mutation_p.R33K|HGF_ENST00000444829.2_Missense_Mutation_p.R33K|HGF_ENST00000453411.1_Missense_Mutation_p.R33K|HGF_ENST00000457544.2_Missense_Mutation_p.R33K|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Missense_Mutation_p.R33K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 33 QR -> HK (in Ref. 2; CAA34387). epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCTTCTTTTCCTTTGTCCCTC 0.269000 9 27 0 0 0.000274275 0 0 JADE2 23338 broad.mit.edu 37 5 133914319 133914319 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:133914319C>T ENST00000395003.1 + 11 1864 c.1685C>T c.(1684-1686)cCa>cTa p.P562L PHF15_ENST00000361895.2_Missense_Mutation_p.P563L|PHF15_ENST00000282605.4_Missense_Mutation_p.P606L|PHF15_ENST00000402835.1_3'UTR NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 562 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCCTGCTCCAGGGCTGCTG 0.617000 14 28 0 0 0.000422831 0 0 PFKFB2 5208 broad.mit.edu 37 1 207240856 207240856 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:207240856C>T ENST00000367080.3 + 9 769 c.645C>T c.(643-645)ttC>ttT p.F215F PFKFB2_ENST00000545806.1_Silent_p.F182F|PFKFB2_ENST00000367079.2_Silent_p.F215F|PFKFB2_ENST00000411990.2_Silent_p.F117F|PFKFB2_ENST00000541914.1_Silent_p.F29F NM_006212.2 NP_006203.2 O60825 F262_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 215 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 20 Prostate(682;0.19) ATCTTTCTTTCATCAAGGTGA 0.428000 27 36 0 0 0.001512 0 0 DEFB115 245929 broad.mit.edu 37 20 29847382 29847382 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:29847382G>A ENST00000400552.1 + 2 214 c.214G>A c.(214-216)Gat>Aat p.D72N NM_001037730.1 NP_001032819.1 Q30KQ5 DB115_HUMAN defensin, beta 115 72 defense response to bacterium extracellular region kidney(1)|lung(3)|ovary(1)|skin(1) 6 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TAAAGAAAAGGATAAACTATC 0.348000 9 25 0 0 0.000274275 0 0 GLYAT 10249 broad.mit.edu 37 11 58478166 58478166 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:58478166T>C ENST00000344743.3 - 5 526 c.385A>G c.(385-387)Aca>Gca p.T129A GLYAT_ENST00000529732.1_Missense_Mutation_p.T129A|GLYAT_ENST00000278400.3_Missense_Mutation_p.T129A NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 129 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) ATGCGTTGTGTTTGTTTGACT 0.423000 27 96 0 0 0.000878237 0 0 BCL6B 255877 broad.mit.edu 37 17 6930932 6930932 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:6930932G>A ENST00000293805.5 + 9 1526 c.1434G>A c.(1432-1434)ggG>ggA p.G478G NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 478 nucleus zinc ion binding skin(1) 1 TTCTCGGGGGGCCCTAGCTGA 0.622000 5 42 0 0 0.000602214 0 0 CNTN4 152330 broad.mit.edu 37 3 2908472 2908472 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:2908472C>T ENST00000397461.1 + 7 875 c.491C>T c.(490-492)tCc>tTc p.S164F CNTN4_ENST00000418658.1_Missense_Mutation_p.S164F|CNTN4_ENST00000427331.1_Missense_Mutation_p.S164F|CNTN4_ENST00000358480.3_5'UTR NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 164 Ig-like C2-type 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding p.S164Y(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GAATACCCTTCCTATCAGGAT 0.383000 42 36 0 0 0.000781405 0 0 BRIP1 83990 broad.mit.edu 37 17 59924520 59924520 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:59924520C>T ENST00000259008.2 - 6 836 c.569G>A c.(568-570)gGa>gAa p.G190E BRIP1_ENST00000577598.1_Missense_Mutation_p.G190E NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 190 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 TACAGTCTTTCCTGAATCAAC 0.343000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 24 47 0 0 0.000295444 0 0 OSBPL7 114881 broad.mit.edu 37 17 45886793 45886793 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:45886793G>A ENST00000007414.3 - 19 2123 c.1932C>T c.(1930-1932)gtC>gtT p.V644V OSBPL7_ENST00000392507.3_Silent_p.V644V NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 644 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 GACCACTCAGGACATTGTGAA 0.547000 26 19 0 0 0.000339439 0 0 SYNE1 23345 broad.mit.edu 37 6 152847286 152847286 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:152847286C>T ENST00000367255.5 - 5 755 c.154G>A c.(154-156)Gat>Aat p.D52N SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 52 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCAAAAAGATCGTCCACCACC 0.423000 HNSCC(10;0.0054) 20 36 0 0 0.00152264 0 0 OR52H1 390067 broad.mit.edu 37 11 5566278 5566278 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:5566278C>T ENST00000322653.4 - 1 501 c.476G>A c.(475-477)cGa>cAa p.R159Q HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R159Q(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGAAGCTTCGAAAGGAGAT 0.463000 16 28 0 0 0.000422831 0 0 TRIM15 89870 broad.mit.edu 37 6 30131816 30131816 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:30131816C>T ENST00000376694.4 + 1 824 c.355C>T c.(355-357)Ctg>Ttg p.L119L TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 119 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 CGTGGGGTTCCTGGACGAGGC 0.587000 10 25 0 0 0.00136819 0 0 DECR2 26063 broad.mit.edu 37 16 461434 461434 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:461434C>T ENST00000219481.5 + 8 873 c.735C>T c.(733-735)atC>atT p.I245I DECR2_ENST00000424398.2_Silent_p.I233I|DECR2_ENST00000461947.1_Intron NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 245 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) AGACCGAGATCGCCCACAGCG 0.677000 9 28 0 0 0.000442599 0 0 DNAH8 1769 broad.mit.edu 37 6 38867567 38867567 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:38867567C>T ENST00000359357.3 + 60 8682 c.8428C>T c.(8428-8430)Cga>Tga p.R2810* DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R3027*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2774* dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACGAATAATTCGAACGTCGTG 0.368000 12 35 0 0 0.000308642 0 0 DDX39B 7919 broad.mit.edu 37 6 31504375 31504375 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:31504375G>A ENST00000417556.2 - 6 1193 c.563C>T c.(562-564)cCa>cTa p.P188L DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000396172.1_Missense_Mutation_p.P173L|DDX39B_ENST00000458640.1_Missense_Mutation_p.P173L|DDX39B_ENST00000415382.2_Missense_Mutation_p.P95L|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.P173L|DDX39B_ENST00000453105.2_Missense_Mutation_p.P126L Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 173 Helicase ATP-binding. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GATACGGCCTGGAGTCCCCAC 0.473000 22 51 0 0 0.00188189 0 0 AHSP 51327 broad.mit.edu 37 16 31539946 31539946 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:31539946C>T ENST00000302312.4 + 3 346 c.243C>T c.(241-243)ttC>ttT p.F81F AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 81 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding lung(2) 2 CCAACCCTTTCCTGGCCAAGT 0.587000 12 15 0 0 0.000308642 0 0 ITGB4 3691 broad.mit.edu 37 17 73736931 73736931 + Splice_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:73736931C>T ENST00000200181.3 + 22 2795 c.2609_splice c.e22+1 p.R870_splice ITGB4_ENST00000579662.1_Splice_Site_p.R870_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.R870_splice|ITGB4_ENST00000450894.3_Splice_Site_p.R870_splice|ITGB4_ENST00000449880.2_Splice_Site_p.R870_splice NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 870 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GACCAAGTTCCGGTGAGTCCC 0.672000 8 19 0 0 0.000274275 0 0 LEPREL1 55214 broad.mit.edu 37 3 189692379 189692379 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:189692379C>T ENST00000319332.5 - 9 1617 c.1420G>A c.(1420-1422)Gaa>Aaa p.E474K LEPREL1_ENST00000427335.2_Missense_Mutation_p.E293K NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 474 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CGGCACTGTTCTTCCGACAGG 0.577000 20 16 0 0 0.00188189 0 0 ABCC8 6833 broad.mit.edu 37 11 17434947 17434947 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:17434947C>T ENST00000302539.4 - 20 2597 c.2472G>A c.(2470-2472)ggG>ggA p.G824G ABCC8_ENST00000389817.3_Silent_p.G823G NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 823 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TAACCCGTTCCCCAATCTGGG 0.552000 45 167 0 0 0.000781405 0 0 ESYT1 23344 broad.mit.edu 37 12 56532030 56532030 + Missense_Mutation SNP C C A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:56532030C>A ENST00000394048.5 + 21 2575 c.2311C>A c.(2311-2313)Cgt>Agt p.R771S ESYT1_ENST00000267113.4_Missense_Mutation_p.R781S|ESYT1_ENST00000541590.1_Missense_Mutation_p.R781S|ESYT1_ENST00000550878.1_3'UTR NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 771 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TCTCACCCCCCGTCCCACTGC 0.602000 5 88 0.000602214 0.00495536 0.000602214 1 0 SEMA3E 9723 broad.mit.edu 37 7 83119496 83119496 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:83119496G>A ENST00000307792.3 - 2 677 c.210C>T c.(208-210)ctC>ctT p.L70L SEMA3E_ENST00000427262.1_Silent_p.L10L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 70 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) CTCCCACGAAGAGCCTCTCTT 0.408000 15 38 0 0 0.000422831 0 0 NCAM1 4684 broad.mit.edu 37 11 113130986 113130986 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:113130986G>A ENST00000316851.7 + 15 2042 c.2042G>A c.(2041-2043)gGa>gAa p.G681E NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.G563E NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 691 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AACCAGCAAGGAAAATCCAAG 0.547000 22 63 0 0 0.000586117 0 0 EPB41L1 2036 broad.mit.edu 37 20 34785922 34785922 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:34785922G>A ENST00000338074.2 + 14 1788 c.1627G>A c.(1627-1629)Gcc>Acc p.A543T EPB41L1_ENST00000202028.5_Missense_Mutation_p.A469T|EPB41L1_ENST00000373941.1_Missense_Mutation_p.A543T|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A469T|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A500T|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A434T NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 543 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CTCCTCCCCCGCCTCCCCCTC 0.612000 16 13 0 0 0.000566183 0 0 SPAG17 200162 broad.mit.edu 37 1 118537036 118537036 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:118537036G>A ENST00000336338.5 - 35 5236 c.5171C>T c.(5170-5172)tCa>tTa p.S1724L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1724 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TACCTCAACTGAGGGAAATGT 0.403000 23 50 0 0 0.00047179 0 0 INS-IGF2 723961 broad.mit.edu 37 11 2182097 2182097 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:2182097C>T ENST00000397270.1 - 2 163 c.105G>A c.(103-105)ctG>ctA p.L35L INS_ENST00000250971.3_Silent_p.L35L|INS_ENST00000397262.1_Silent_p.L35L|INS_ENST00000381330.4_Silent_p.L35L|INS_ENST00000512523.1_Silent_p.L35L NM_001042376.2 NP_001035835.1 Q1WM24 Q1WM24_HUMAN 35 glucose metabolic process extracellular region hormone activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 5 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) GAGCTTCCACCAGGTGTGAGC 0.647000 58 91 0 0 0.000781405 0 0 KIAA0753 9851 broad.mit.edu 37 17 6513386 6513386 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:6513386C>T ENST00000361413.3 - 9 1998 c.1640G>A c.(1639-1641)cGg>cAg p.R547Q KIAA0753_ENST00000589033.1_Missense_Mutation_p.R3Q|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R248Q|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R248Q NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 547 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) CACAGGCTGCCGGTTCATTTT 0.498000 38 46 0 0 0.00128727 0 0 BRCA2 675 broad.mit.edu 37 13 32912842 32912842 + Silent SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr13:32912842T>C ENST00000544455.1 + 11 4577 c.4350T>C c.(4348-4350)ttT>ttC p.F1450F BRCA2_ENST00000380152.3_Silent_p.F1450F NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1450 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAATTTCTTTGATCAGAAAC 0.289000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 95 46 0 0 0.000781405 0 0 ZNF451 26036 broad.mit.edu 37 6 57013018 57013018 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:57013018C>T ENST00000370706.4 + 10 2379 c.2135C>T c.(2134-2136)cCa>cTa p.P712L RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P712L|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P712L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATGATTTTCCAGTAATAGAG 0.363000 17 5 0 0 0.00074312 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049977 42049977 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:42049977G>A ENST00000372584.1 - 3 1506 c.492C>T c.(490-492)ttC>ttT p.F164F HIVEP3_ENST00000247584.5_Silent_p.F164F|HIVEP3_ENST00000429157.2_Silent_p.F164F|HIVEP3_ENST00000372583.1_Silent_p.F164F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 164 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.F164F(1) 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) GACGAGGCACGAAGACTTTGG 0.597000 28 85 0 0 0.001512 0 0 SI 6476 broad.mit.edu 37 3 164785148 164785148 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:164785148C>T ENST00000264382.3 - 6 677 c.615G>A c.(613-615)agG>agA p.R205R NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 205 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CGTTGCTTTTCCTAATAACTT 0.308000 HNSCC(35;0.089) 27 18 0 0 0.000878237 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27832573 27832573 + Splice_Site SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:27832573G>A ENST00000318304.8 + 19 2067 c.e19+1 PPFIBP1_ENST00000542629.1_Splice_Site|PPFIBP1_ENST00000228425.6_Splice_Site|PPFIBP1_ENST00000537927.1_Splice_Site NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TCTTTGGAAAGTAAGTAAAGC 0.438000 17 69 0 0 0.000422831 0 0 FN1 2335 broad.mit.edu 37 2 216245549 216245549 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:216245549C>T ENST00000354785.4 - 33 5788 c.5419G>A c.(5419-5421)Gga>Aga p.G1807R FN1_ENST00000357009.2_Missense_Mutation_p.G1716R|FN1_ENST00000356005.4_Intron|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000443816.1_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.G1807R|FN1_ENST00000336916.4_Missense_Mutation_p.G1716R|FN1_ENST00000345488.5_Missense_Mutation_p.G1716R|FN1_ENST00000346544.3_Missense_Mutation_p.G1716R|FN1_ENST00000432072.2_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G1716R|FN1_ENST00000421182.1_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G1716R|FN1_ENST00000357867.4_Intron P02751 FINC_HUMAN fibronectin 1 1806 Fibronectin type-III 13.|Heparin-binding 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GACTGGGTTCCAATCAGGGGC 0.522000 23 92 0 0 0.000720815 0 0 PSD3 23362 broad.mit.edu 37 8 18541318 18541318 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:18541318G>A ENST00000428502.2 - 1 291 c.125C>T c.(124-126)tCc>tTc p.S42F PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 714 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TGAGGAGTTGGAAATTTTCAT 0.478000 63 90 0 0 0.000781405 0 0 TRIO 7204 broad.mit.edu 37 5 14304643 14304643 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:14304643A>G ENST00000344204.4 + 8 1466 c.1442A>G c.(1441-1443)gAa>gGa p.E481G TRIO_ENST00000537187.1_Missense_Mutation_p.E481G|TRIO_ENST00000509967.2_Missense_Mutation_p.E432G NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 481 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CAGGACCTAGAAGATGCCATT 0.413000 19 59 0 0 0.000958276 0 0 RPL11 6135 broad.mit.edu 37 1 24022390 24022390 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:24022390C>T ENST00000374550.3 + 5 544 c.499C>T c.(499-501)Cag>Tag p.Q167* RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 167 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) GCGCTGGTTCCAGCAGAAGGT 0.493000 4 5 0 0 0.00024832 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5209251 5209251 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:5209251G>A ENST00000274181.7 + 10 1635 c.1497G>A c.(1495-1497)aaG>aaA p.K499K ADAMTS16_ENST00000511368.1_Silent_p.K499K NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 499 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AGCCTGTGAAGGAATACAAGT 0.473000 38 96 0 0 0.00148497 0 0 OR5P3 120066 broad.mit.edu 37 11 7846717 7846717 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:7846717G>A ENST00000328375.1 - 1 802 c.803C>T c.(802-804)aCt>aTt p.T268I RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GTTCTGGTCAGTTGAGTAGCT 0.517000 16 43 0 0 0.000566183 0 0 CENPJ 55835 broad.mit.edu 37 13 25484175 25484175 + Silent SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr13:25484175T>A ENST00000381884.4 - 4 803 c.618A>T c.(616-618)ggA>ggT p.G206G CENPJ_ENST00000545981.1_Silent_p.G206G NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 206 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TGGTGGTATTTCCTGGAGACC 0.458000 48 24 0 0 0.000781405 0 0 MTL5 9633 broad.mit.edu 37 11 68517742 68517742 + Silent SNP T T A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:68517742T>A ENST00000443940.2 - 2 473 c.387A>T c.(385-387)ctA>ctT p.L129L MTL5_ENST00000255087.5_Silent_p.L129L|MTL5_ENST00000544963.1_Silent_p.L129L Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 129 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GGTGCGCGGGTAGCAGCGAGG 0.721000 4 12 0 0 0.00116845 0 0 MPL 4352 broad.mit.edu 37 1 43812205 43812205 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:43812205G>A ENST00000372470.3 + 7 1112 c.1070G>A c.(1069-1071)cGa>cAa p.R357Q MPL_ENST00000413998.2_Missense_Mutation_p.R357Q NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 357 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCAAGTCACGAAATGACAGC 0.532000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 25 86 0 0 0.00047179 0 0 LRP1B 53353 broad.mit.edu 37 2 141108425 141108425 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:141108425C>T ENST00000389484.3 - 77 12804 c.11833G>A c.(11833-11835)Gga>Aga p.G3945R NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3945 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGAAAATTCCGCCTGGATTA 0.323000 TSP Lung(27;0.18) 31 35 0 0 0.00178596 0 0 CD226 10666 broad.mit.edu 37 18 67562970 67562970 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr18:67562970C>T ENST00000280200.4 - 4 962 c.694G>A c.(694-696)Gaa>Aaa p.E232K CD226_ENST00000581982.1_Missense_Mutation_p.E77K|CD226_ENST00000582621.1_Missense_Mutation_p.E232K|CD226_ENST00000577287.1_Missense_Mutation_p.E77K NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 232 Ig-like C2-type 2. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity p.E232K(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) ACGAAGGTTTCGTTTTCTCCT 0.562000 53 28 0 0 0.000781405 0 0 C1orf194 127003 broad.mit.edu 37 1 109650604 109650604 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:109650604C>T ENST00000369949.4 - 2 280 c.101G>A c.(100-102)cGg>cAg p.R34Q C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Missense_Mutation_p.R46Q NM_001122961.1 NP_001116433.1 Q5T5A4 CA194_HUMAN chromosome 1 open reading frame 194 46 large_intestine(2)|lung(2)|ovary(2) 6 TGAGTTGAGCCGACTCCAGGG 0.473000 25 96 0 0 0.000878237 0 0 C6orf165 154313 broad.mit.edu 37 6 88125461 88125461 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:88125461G>A ENST00000507897.1 + 5 424 c.341G>A c.(340-342)cGa>cAa p.R114Q C6ORF165_ENST00000369562.4_Missense_Mutation_p.R114Q Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 114 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) TCTGTTACCCGAGAAATTACA 0.398000 31 21 0 0 0.00058488 0 0 TTN 7273 broad.mit.edu 37 2 179598575 179598575 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:179598575C>T ENST00000589042.1 - 53 15765 c.15541G>A c.(15541-15543)Gga>Aga p.G5181R TTN_ENST00000591111.1_Missense_Mutation_p.G4864R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3937R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4864 Ig-like 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTTGTCCTCCTAGTGCAATC 0.418000 21 56 0 0 0.00188189 0 0 LINC00696 100128378 broad.mit.edu 37 3 52097286 52097286 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:52097286C>T ENST00000541313.1 - 1 281 c.282G>A c.(280-282)tgG>tgA p.W94* GCTCTGTCTTCCACAGAACAT 0.547000 55 25 0 0 0.000781405 0 0 ADAMTSL5 339366 broad.mit.edu 37 19 1507606 1507606 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:1507606G>A ENST00000330475.4 - 8 1081 c.638C>T c.(637-639)cCc>cTc p.P213L ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.P223L|ADAMTSL5_ENST00000395467.2_5'UTR NM_213604.2 NP_998769.2 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 213 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGCCCTCGGGGATCAGGGT 0.657000 17 8 0 0 0.000375601 0 0 DRD2 1813 broad.mit.edu 37 11 113281470 113281470 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:113281470G>A ENST00000362072.3 - 8 1655 c.1311C>T c.(1309-1311)ttC>ttT p.F437F DRD2_ENST00000355319.2_Silent_p.F439F|DRD2_ENST00000346454.3_Silent_p.F408F|DRD2_ENST00000542968.1_Silent_p.F437F|DRD2_ENST00000538967.1_Silent_p.F439F|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Silent_p.F436F NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 437 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GGATCTTCAGGAAGGCCTTGC 0.622000 23 76 0 0 0.000586117 0 0 PREX2 80243 broad.mit.edu 37 8 68965372 68965372 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:68965372G>A ENST00000288368.4 + 9 1261 c.984G>A c.(982-984)tgG>tgA p.W328* PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 328 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTAATGGATGGAAGATACATA 0.318000 37 56 0 0 0.00195071 0 0 IGSF3 3321 broad.mit.edu 37 1 117146260 117146260 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:117146260G>A ENST00000369486.3 - 6 2375 c.1610C>T c.(1609-1611)tCc>tTc p.S537F IGSF3_ENST00000318837.6_Missense_Mutation_p.S557F|IGSF3_ENST00000369483.1_Missense_Mutation_p.S557F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 537 Ig-like C2-type 4. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCTGTGATGGAGATGGGAGT 0.577000 22 31 0 0 0.00047179 0 0 ANO2 57101 broad.mit.edu 37 12 5708689 5708689 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:5708689C>T ENST00000546188.1 - 21 2268 c.2197G>A c.(2197-2199)Gaa>Aaa p.E733K ANO2_ENST00000356134.5_Missense_Mutation_p.E733K|ANO2_ENST00000327087.8_Missense_Mutation_p.E732K Q9NQ90 ANO2_HUMAN anoctamin 2 737 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GTGTATGGTTCCAAGCTGTAG 0.507000 48 78 0 0 0.000781405 0 0 AKNA 80709 broad.mit.edu 37 9 117118331 117118331 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:117118331G>A ENST00000307564.4 - 14 3093 c.2932C>T c.(2932-2934)Ccc>Tcc p.P978S AKNA_ENST00000223791.3_Missense_Mutation_p.P438S|AKNA_ENST00000374088.3_Missense_Mutation_p.P978S|AKNA_ENST00000374075.5_Missense_Mutation_p.P897S NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 978 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GCTCTTCTGGGAATCAGAGAA 0.627000 24 23 0 0 0.00127121 0 0 VWA3A 146177 broad.mit.edu 37 16 22132863 22132863 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:22132863G>A ENST00000389398.5 + 14 1377 c.1281G>A c.(1279-1281)ctG>ctA p.L427L VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 427 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) ATCAGGTCCTGGCACCCAATG 0.413000 70 82 0 0 0.000781405 0 0 PCLO 27445 broad.mit.edu 37 7 82585080 82585080 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:82585080G>A ENST00000423517.2 - 5 5526 c.5189C>T c.(5188-5190)tCc>tTc p.S1730F PCLO_ENST00000333891.8_Missense_Mutation_p.S1730F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1661 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGATGTAGGGGATGTACCAGG 0.498000 51 67 0 0 0.000781405 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948468 82948468 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:82948468C>T ENST00000274341.4 - 3 1126 c.276G>A c.(274-276)gtG>gtA p.V92V HAPLN1_ENST00000514416.1_Silent_p.V92V NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 92 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CAAAAACATCCACTTCCTTGA 0.433000 43 48 0 0 0.000589545 0 0 TPM2 7169 broad.mit.edu 37 9 35689769 35689769 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:35689769C>T ENST00000378292.3 - 1 1248 c.46G>A c.(46-48)Gag>Aag p.E16K TPM2_ENST00000329305.2_Missense_Mutation_p.E16K|TPM2_ENST00000360958.2_Missense_Mutation_p.E16K|TPM2_ENST00000378300.5_Missense_Mutation_p.E16K NM_213674.1 NP_998839.1 P07951 TPM2_HUMAN tropomyosin 2 (beta) 16 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ATGGCGTTCTCCTTGTCCAGC 0.672000 77 64 0 0 0.000781405 0 0 ZNF99 7652 broad.mit.edu 37 19 22941498 22941498 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:22941498C>T ENST00000397104.3 - 5 939 c.940G>A c.(940-942)Gct>Act p.A314T ZNF99_ENST00000596209.1_Missense_Mutation_p.A405T zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACTTAAAAGCTTTACCACAT 0.378000 8 34 0 0 0.000157383 0 0 NINL 22981 broad.mit.edu 37 20 25459788 25459788 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr20:25459788T>C ENST00000278886.6 - 16 2045 c.1972A>G c.(1972-1974)Agg>Ggg p.R658G NINL_ENST00000422516.1_Missense_Mutation_p.R658G NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 658 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 ATGTCCTTCCTCTCCTTCTCA 0.542000 20 65 0 0 0.00152264 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802483 185802483 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:185802483G>A ENST00000302277.6 + 4 2954 c.2360G>A c.(2359-2361)cGa>cAa p.R787Q NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 787 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AGTTTAAATCGACAGAATCAT 0.373000 38 41 0 0 0.000814825 0 0 SEMA3C 10512 broad.mit.edu 37 7 80418633 80418633 + Missense_Mutation SNP A A T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:80418633A>T ENST00000265361.3 - 12 1904 c.1343T>A c.(1342-1344)tTt>tAt p.F448Y SEMA3C_ENST00000419255.2_Missense_Mutation_p.F448Y|SEMA3C_ENST00000544525.1_Missense_Mutation_p.F466Y NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 448 Sema. immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGTTCCGAGAAACAGGACATG 0.398000 37 84 0 0 0.00128727 0 0 AHNAK 79026 broad.mit.edu 37 11 62287339 62287339 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:62287339G>A ENST00000378024.4 - 5 14824 c.14550C>T c.(14548-14550)tcC>tcT p.S4850S AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4850 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CATCAGGTATGGAGATCTTGG 0.433000 20 71 0 0 0.000295444 0 0 PGM1 5236 broad.mit.edu 37 1 64059224 64059224 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:64059224T>C ENST00000371084.3 + 1 278 c.65T>C c.(64-66)cTg>cCg p.L22P NM_002633.2 NP_002624.2 P36871 PGM1_HUMAN phosphoglucomutase 1 22 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 ACGAGCGGGCTGCGGAAGCGG 0.647000 5 23 0 0 0.000157383 0 0 RABGAP1 23637 broad.mit.edu 37 9 125748616 125748616 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr9:125748616A>G ENST00000373647.4 + 4 642 c.508A>G c.(508-510)Atg>Gtg p.M170V NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 170 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 AGCCTTAAGGATGATGTCCAT 0.468000 73 30 0 0 0.000781405 0 0 ITGA7 3679 broad.mit.edu 37 12 56090798 56090798 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:56090798G>A ENST00000257880.7 - 13 1973 c.1754C>T c.(1753-1755)cCc>cTc p.P585L ITGA7_ENST00000452168.2_Missense_Mutation_p.P448L|ITGA7_ENST00000553804.1_Missense_Mutation_p.P545L|ITGA7_ENST00000394229.2_Missense_Mutation_p.P541L|ITGA7_ENST00000394230.2_Missense_Mutation_p.P545L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P535L|ITGA7_ENST00000555728.1_Missense_Mutation_p.P585L|ITGA7_ENST00000257879.6_Missense_Mutation_p.P541L Q13683 ITA7_HUMAN integrin, alpha 7 585 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CGTCACACGGGGAACCTGGCC 0.622000 12 9 0 0 0.00136819 0 0 PPL 5493 broad.mit.edu 37 16 4934437 4934437 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr16:4934437C>T ENST00000345988.2 - 22 4308 c.4219G>A c.(4219-4221)Gag>Aag p.E1407K PPL_ENST00000590782.2_Missense_Mutation_p.E1405K NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1407 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CGCTCGCGCTCTAGCTCCTCC 0.697000 23 25 0 0 0.000375601 0 0 GPLD1 2822 broad.mit.edu 37 6 24460550 24460550 + Missense_Mutation SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:24460550T>C ENST00000230036.1 - 12 1075 c.965A>G c.(964-966)tAt>tGt p.Y322C NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 322 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TCTTTCAGTATAGTTTATATT 0.363000 46 48 0 0 0.000680045 0 0 SPAG17 200162 broad.mit.edu 37 1 118534050 118534050 + Silent SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:118534050G>T ENST00000336338.5 - 37 5528 c.5463C>A c.(5461-5463)ctC>ctA p.L1821L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1821 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAACCAGCTTGAGGAGATCAG 0.363000 24 29 7.07758e-08 5.97914e-07 0.000720815 1 0 OVGP1 5016 broad.mit.edu 37 1 111957780 111957780 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:111957780C>T ENST00000369732.3 - 11 1398 c.1343G>A c.(1342-1344)gGt>gAt p.G448D NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 448 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CACAGTTGTACCTCTAGGGGT 0.488000 35 26 0 0 0.000692331 0 0 EBF1 1879 broad.mit.edu 37 5 158250325 158250325 + Splice_Site SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr5:158250325C>T ENST00000313708.6 - 8 919 c.636_splice c.e8-1 p.V213_splice EBF1_ENST00000517373.1_Splice_Site_p.V213_splice|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Splice_Site_p.V190_splice NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 213 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACACCACGACCTGGAGACAT 0.413000 T HMGA2 lipoma 12 1 0 0 0.000308642 0 0 XIRP2 129446 broad.mit.edu 37 2 168101760 168101760 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:168101760G>A ENST00000409195.1 + 9 3947 c.3858G>A c.(3856-3858)gaG>gaA p.E1286E XIRP2_ENST00000295237.9_Silent_p.E1286E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E1064E NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1111 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTTTAGATGAGATTAAAGAAG 0.373000 34 53 0 0 0.000491102 0 0 DMXL2 23312 broad.mit.edu 37 15 51758421 51758421 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:51758421C>T ENST00000251076.5 - 30 7764 c.7477G>A c.(7477-7479)Gat>Aat p.D2493N DMXL2_ENST00000449909.3_Missense_Mutation_p.D1857N|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2494N|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2493 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATTTGTGTATCTGAAAAAAAG 0.318000 18 97 0 0 0.000958276 0 0 KIAA0319 9856 broad.mit.edu 37 6 24582535 24582535 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:24582535G>A ENST00000535378.1 - 7 1748 c.1106C>T c.(1105-1107)cCc>cTc p.P369L KIAA0319_ENST00000543707.1_Missense_Mutation_p.P378L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P378L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P333L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P378L NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 378 PKD 1. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GTAGTCTGTGGGGTGGCTTAT 0.383000 66 96 0 0 0.000781405 0 0 BTN1A1 696 broad.mit.edu 37 6 26508792 26508792 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:26508792C>T ENST00000244513.6 + 7 1037 c.971C>T c.(970-972)tCt>tTt p.S324F NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 324 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 GATTCAAAATCTGTTCGACTG 0.488000 31 122 0 0 0.000409698 0 0 PPIL2 23759 broad.mit.edu 37 22 22040799 22040799 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr22:22040799G>A ENST00000406385.1 + 11 802 c.742G>A c.(742-744)Gct>Act p.A248T PPIL2_ENST00000456792.2_Missense_Mutation_p.A227T|PPIL2_ENST00000335025.7_Missense_Mutation_p.A248T|PPIL2_ENST00000398831.3_Missense_Mutation_p.A248T|PPIL2_ENST00000412327.1_Missense_Mutation_p.A248T|PPIL2_ENST00000492445.2_Missense_Mutation_p.A248T Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 248 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) GAAGGTCAGCGCTTCCTTCAC 0.612000 27 13 0 0 0.00106085 0 0 CHD2 1106 broad.mit.edu 37 15 93528899 93528899 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:93528899C>T ENST00000394196.4 + 26 4477 c.3409C>T c.(3409-3411)Cga>Tga p.R1137* CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1137* NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1137 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGCAGAGATCCGAAGGTTGGT 0.527000 31 72 0 0 0.00058488 0 0 DISP2 85455 broad.mit.edu 37 15 40657833 40657833 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:40657833G>A ENST00000267889.3 + 7 939 c.852G>A c.(850-852)aaG>aaA p.K284K NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 284 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TTGCAGAGAAGAGCTATGCAA 0.567000 47 47 0 0 0.000781405 0 0 ATP4A 495 broad.mit.edu 37 19 36054375 36054375 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:36054375C>T ENST00000262623.3 - 2 95 c.67G>A c.(67-69)Gct>Act p.A23T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 23 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ATCTTGGCAGCCATGTCCCCG 0.572000 30 111 0 0 0.000692331 0 0 RET 5979 broad.mit.edu 37 10 43604664 43604664 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr10:43604664C>T ENST00000355710.3 + 6 1481 c.1249C>T c.(1249-1251)Cgc>Tgc p.R417C RET_ENST00000340058.5_Missense_Mutation_p.R417C NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 417 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CAGGAGGGCTCGCCGATTTGC 0.627000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 11 4 0 0 0.00185496 0 0 SERPINA3 12 broad.mit.edu 37 14 95085667 95085667 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:95085667C>T ENST00000553947.1 + 6 1742 c.854C>T c.(853-855)tCc>tTc p.S285F SERPINA3_ENST00000482740.1_Missense_Mutation_p.S42F|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S260F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S260F|SERPINA3_ENST00000467132.1_Missense_Mutation_p.S260F P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 260 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAGGAGCTGTCCTGCACCGTG 0.517000 16 10 0 0 0.000308642 0 0 P2RX3 5024 broad.mit.edu 37 11 57115699 57115699 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:57115699C>T ENST00000263314.2 + 5 481 c.447C>T c.(445-447)atC>atT p.I149I NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 149 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 CCTGTGAGATCCAGGGCTGGT 0.622000 5 7 0 0 0.000602214 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679243 176679243 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:176679243G>A ENST00000367662.3 + 11 4746 c.3582G>A c.(3580-3582)cgG>cgA p.R1194R NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1194 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGGCTACCCGGGCTTACTCCT 0.458000 55 66 0 0 0.000781405 0 0 SZRD1 26099 broad.mit.edu 37 1 16721553 16721553 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:16721553C>T ENST00000401088.4 + 4 552 c.377C>T c.(376-378)cCc>cTc p.P126L SZRD1_ENST00000401089.3_Missense_Mutation_p.P107L|SZRD1_ENST00000492354.1_Missense_Mutation_p.P106L|SZRD1_ENST00000375590.3_Missense_Mutation_p.P106L|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.P125L NM_001114600.1|NM_001271869.1 NP_001108072.1|NP_001258798.1 SUZ RNA binding domain containing 1 ATCTCCCAACCCGAAGACAGC 0.443000 13 32 0 0 0.00185496 0 0 MAATS1 89876 broad.mit.edu 37 3 119458134 119458134 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:119458134C>T ENST00000273390.5 + 12 1571 c.1494C>T c.(1492-1494)taC>taT p.Y498Y NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 CTGTGATCTACCTTCAAAAGT 0.418000 86 42 0 0 0.000781405 0 0 BTK 695 broad.mit.edu 37 X 100615121 100615121 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:100615121G>A ENST00000308731.7 - 9 957 c.794C>T c.(793-795)cCt>cTt p.P265L BTK_ENST00000372880.1_Missense_Mutation_p.P265L NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 265 SH3. Missing (in XLA; severe). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 ATAGTTACTAGGAATGTAGCC 0.468000 Agammaglobulinemia, X-linked 61 16 0 0 0.000781405 0 0 GRIA2 2891 broad.mit.edu 37 4 158281187 158281187 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:158281187C>T ENST00000296526.7 + 13 2508 c.2183C>T c.(2182-2184)aCg>aTg p.T728M GRIA2_ENST00000393815.2_Missense_Mutation_p.T681M|GRIA2_ENST00000507898.1_Missense_Mutation_p.T681M|GRIA2_ENST00000264426.9_Missense_Mutation_p.T728M|GRIA2_ENST00000449365.1_Missense_Mutation_p.T681M NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 728 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TTGGAGTCCACGATGAACGAG 0.522000 10 53 0 0 0.000442599 0 0 PKIA 5569 broad.mit.edu 37 8 79510635 79510635 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:79510635A>G ENST00000396418.2 + 3 502 c.16A>G c.(16-18)Act>Gct p.T6A PKIA_ENST00000352966.5_Missense_Mutation_p.T6A|PKIA_ENST00000518467.1_Missense_Mutation_p.T6A NM_006823.3|NM_181839.2 NP_006814.1|NP_862822.1 P61925 IPKA_HUMAN protein kinase (cAMP-dependent, catalytic) inhibitor alpha 6 cAMP-dependent protein kinase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 TGATGTGGAAACTACATATGC 0.358000 27 68 0 0 0.000339439 0 0 RSBN1L 222194 broad.mit.edu 37 7 77402515 77402515 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:77402515C>T ENST00000334955.7 + 6 1704 c.1677C>T c.(1675-1677)ccC>ccT p.P559P RSBN1L_ENST00000445288.1_Silent_p.P289P NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 559 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAAGTGAGCCCCGTGAGATGC 0.388000 36 41 0 0 0.00128727 0 0 CLPB 81570 broad.mit.edu 37 11 72018283 72018283 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:72018283G>A ENST00000294053.3 - 10 1345 c.1172C>T c.(1171-1173)gCc>gTc p.A391V CLPB_ENST00000543042.1_Missense_Mutation_p.A190V|CLPB_ENST00000437826.2_Missense_Mutation_p.A346V|CLPB_ENST00000538021.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.A361V|CLPB_ENST00000340729.5_Missense_Mutation_p.A332V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 391 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGTCTGCTTGGCCAGCTCTGT 0.463000 74 228 0 0 0.000781405 0 0 ATP8B4 79895 broad.mit.edu 37 15 50264878 50264878 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:50264878C>T ENST00000284509.6 - 13 1285 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K ATP8B4_ENST00000559829.1_Missense_Mutation_p.E382K NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 382 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGCCCCAGTTCCTCATTGAGC 0.423000 18 20 0 0 0.00074312 0 0 LAMA2 3908 broad.mit.edu 37 6 129637213 129637213 + Nonsense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:129637213C>T ENST00000421865.2 + 27 4004 c.3955C>T c.(3955-3957)Cga>Tga p.R1319* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1319 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGATGATCCTCGAGTCCATAG 0.348000 27 24 0 0 0.00058488 0 0 HERC3 8916 broad.mit.edu 37 4 89627995 89627995 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:89627995C>T ENST00000402738.1 + 26 3276 c.3037C>T c.(3037-3039)Ccg>Tcg p.P1013S HERC3_ENST00000543130.1_Missense_Mutation_p.P457S|HERC3_ENST00000264345.3_Missense_Mutation_p.P1013S NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 1013 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GGAGTACTTGCCGGTGGCCCA 0.577000 OREG0016265 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 12 0 0 0.00178596 0 0 FGF16 8823 broad.mit.edu 37 X 76709692 76709692 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chrX:76709692C>T ENST00000439435.1 + 1 45 c.45C>T c.(43-45)tcC>tcT p.S15S O43320 FGF16_HUMAN fibroblast growth factor 16 0 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity NS(1)|breast(1)|lung(2) 4 GATCAGCATCCGGGGAGTGGA 0.423000 9 1 0 0 0.00185496 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417713 150417713 + Missense_Mutation SNP G G T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:150417713G>T ENST00000307194.5 + 3 761 c.621G>T c.(619-621)atG>atT p.M207I NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGGGGATGGTCGAGGGCT 0.692000 7 15 8.12818e-05 0.000674086 8.12818e-05 1 0 ME3 10873 broad.mit.edu 37 11 86267657 86267657 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:86267657G>A ENST00000543262.1 - 4 731 c.405C>T c.(403-405)atC>atT p.I135I ME3_ENST00000359636.2_Silent_p.I135I|ME3_ENST00000323418.6_Silent_p.I73I|ME3_ENST00000393324.3_Silent_p.I135I|RP11-317J19.1_ENST00000524610.1_RNA NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 135 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding p.I135I(1) endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GCGTGTACACGATTGGCATGA 0.587000 9 17 0 0 0.000274275 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885171 88885171 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:88885171G>A ENST00000319675.3 - 1 1125 c.1029C>T c.(1027-1029)ctC>ctT p.L343L NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 343 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GGCCATGACGGAGGCTCCAGA 0.602000 23 37 0 0 0.000586117 0 0 SIM1 6492 broad.mit.edu 37 6 100841546 100841546 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:100841546G>A ENST00000369208.3 - 11 2169 c.1387C>T c.(1387-1389)Cat>Tat p.H463Y SIM1_ENST00000262901.4_Missense_Mutation_p.H463Y P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 463 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GCCTGGGTATGGAAATGCCTC 0.632000 24 28 0 0 0.000375601 0 0 PAPL 390928 broad.mit.edu 37 19 39591436 39591436 + Missense_Mutation SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:39591436C>T ENST00000594229.1 + 5 660 c.626C>T c.(625-627)tCc>tTc p.S209F PAPL_ENST00000331256.5_Silent_p.L250L Q6ZNF0 PAPL_HUMAN 0 extracellular region acid phosphatase activity|metal ion binding ATTTCTTTCTCCATTATGGCC 0.617000 6 22 0 0 8.12818e-05 0 0 RGPD4 285190 broad.mit.edu 37 2 108488632 108488632 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr2:108488632A>G ENST00000408999.3 + 20 4249 c.4172A>G c.(4171-4173)aAg>aGg p.K1391R RGPD4_ENST00000354986.4_Missense_Mutation_p.K1391R NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1391 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TATGATAATAAGCAAGTTCGT 0.353000 119 211 0 0 0.000781405 0 0 SDK2 54549 broad.mit.edu 37 17 71335026 71335026 + Missense_Mutation SNP A A C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:71335026A>C ENST00000392650.3 - 45 6219 c.6219T>G c.(6217-6219)ttT>ttG p.F2073L SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.F2054L NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2073 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 AGTGGTTGACAAAGGAGTGGG 0.582000 14 16 0 0 0.000308642 0 0 MIA2 117153 broad.mit.edu 37 14 39721990 39721990 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:39721990G>A ENST00000280082.3 + 5 1805 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K RP11-407N17.3_ENST00000553728.1_Intron NM_054024.3 NP_473365.3 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 145 extracellular region NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 31 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GAGAATTCACGAAGAAGTATA 0.378000 49 41 0 0 0.000781405 0 0 OR11H12 440153 broad.mit.edu 37 14 19378043 19378043 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:19378043C>T ENST00000550708.1 + 1 522 c.450C>T c.(448-450)atC>atT p.I150I NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTAATATCATGACTGGGC 0.458000 10 232 0 0 0.000566183 0 0 OR51G1 79324 broad.mit.edu 37 11 4944713 4944713 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:4944713G>A ENST00000321961.2 - 1 924 c.857C>T c.(856-858)cCa>cTa p.P286L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CATAAGGGGTGGTACCAGCAG 0.453000 22 74 0 0 0.000375601 0 0 TICRR 90381 broad.mit.edu 37 15 90137730 90137730 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:90137730G>A ENST00000268138.7 + 6 1731 c.1626G>A c.(1624-1626)caG>caA p.Q542Q TICRR_ENST00000560985.1_Silent_p.Q541Q TOPBP1-interacting checkpoint and replication regulator AGCTCTACCAGAGAAAATCTC 0.408000 36 30 0 0 0.000814825 0 0 POLR2A 5430 broad.mit.edu 37 17 7401487 7401487 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:7401487C>T ENST00000322644.6 + 8 1692 c.1293C>T c.(1291-1293)ttC>ttT p.F431F POLR2A_ENST00000572844.1_Silent_p.F431F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 431 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) ACTTGCGTTTCCACCCCAAGC 0.557000 16 20 0 0 0.00121646 0 0 RPL11 6135 broad.mit.edu 37 1 24022389 24022389 + Silent SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr1:24022389C>T ENST00000374550.3 + 5 543 c.498C>T c.(496-498)ttC>ttT p.F166F RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 166 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) TGCGCTGGTTCCAGCAGAAGG 0.488000 4 5 0 0 0.00024832 0 0 KMT2D 8085 broad.mit.edu 37 12 49445377 49445377 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr12:49445377G>A ENST00000301067.7 - 10 2088 c.2089C>T c.(2089-2091)Ccc>Tcc p.P697S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGGATGTGGGGGAGTCCTCA 0.652000 10 44 0 0 0.000978159 0 0 MYO9A 4649 broad.mit.edu 37 15 72190602 72190602 + Silent SNP T T C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:72190602T>C ENST00000356056.5 - 25 4714 c.4242A>G c.(4240-4242)tcA>tcG p.S1414S MYO9A_ENST00000424560.1_Silent_p.S1414S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.S1395S|MYO9A_ENST00000566885.1_Silent_p.S1034S|MYO9A_ENST00000564571.1_Silent_p.S1414S NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1414 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTAGACTATTTGAAATGAAGG 0.388000 25 21 0 0 0.00106085 0 0 ATP13A5 344905 broad.mit.edu 37 3 193023397 193023397 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:193023397G>A ENST00000342358.4 - 23 2746 c.2629C>T c.(2629-2631)Cct>Tct p.P877S ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 877 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GAGGTAAAAGGGGATGCCACA 0.468000 57 26 0 0 0.000781405 0 0 SETMAR 6419 broad.mit.edu 37 3 4355399 4355399 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr3:4355399G>A ENST00000358065.4 + 2 1041 c.974G>A c.(973-975)gGc>gAc p.G325D SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.G325D|SETMAR_ENST00000425863.1_Missense_Mutation_p.G186D NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 312 Histone-lysine N-methyltransferase. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) AGCATGTGTGGCTCAGCCCCT 0.502000 Chromatin Structure 27 15 0 0 0.000586117 0 0 UBE4A 9354 broad.mit.edu 37 11 118245634 118245634 + Silent SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:118245634G>A ENST00000252108.3 + 9 1271 c.1140G>A c.(1138-1140)aaG>aaA p.K380K UBE4A_ENST00000431736.2_Silent_p.K387K NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 380 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCCACGAAAAGATCTACCAGA 0.438000 12 47 0 0 0.000219431 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123122545 123122545 + Missense_Mutation SNP A A G TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:123122545A>G ENST00000368440.4 + 4 739 c.562A>G c.(562-564)Agg>Ggg p.R188G SMPDL3A_ENST00000539041.1_Missense_Mutation_p.R57G NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 188 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) TAGTACTTTAAGGAAAGGTAA 0.363000 21 51 0 0 0.00152264 0 0 GUCY2D 3000 broad.mit.edu 37 17 7909741 7909741 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:7909741G>A ENST00000254854.4 + 4 1237 c.1087G>A c.(1087-1089)Gaa>Aaa p.E363K NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 363 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GGGCGTGGCAGAAGCGCGGGC 0.662000 25 27 0 0 0.00178596 0 0 TRIM60 166655 broad.mit.edu 37 4 165962309 165962309 + Nonsense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr4:165962309G>A ENST00000512596.1 + 3 1301 c.1085G>A c.(1084-1086)tGg>tAg p.W362* TRIM60_ENST00000341062.5_Nonsense_Mutation_p.W362*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.W362* NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 362 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AAACCTAAATGGATATTGGGT 0.483000 59 49 0 0 0.000781405 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332667 22332667 + RNA SNP C C T TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr15:22332667C>T ENST00000558896.1 + 0 474 AGGGGATTTCCTACAGCAGGG 0.443000 10 74 0 0 0.000673444 0 0 DNAH8 1769 broad.mit.edu 37 6 38862526 38862526 + Missense_Mutation SNP G G A TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr6:38862526G>A ENST00000359357.3 + 57 8236 c.7982G>A c.(7981-7983)cGa>cAa p.R2661Q DNAH8_ENST00000449981.2_Missense_Mutation_p.R2878Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2625Q dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTCAATCTTCGAGATCTTTCC 0.393000 32 37 0 0 0.000491102 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 4 2 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 7 61 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102737945 102737945 + RNA DEL A A - rs28381681 TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr11:102737945delA 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) GTTTTCTGACAAAAAAAATTT 0.338 6 4 --- --- --- --- TRAV12-2 28673 broad.mit.edu 37 14 22356088 22356089 + RNA INS - - T rs140986787 by1000genomes TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr14:22356088_22356089insT ENST00000390437.2 + 0 52_53 TTCTAGGTGCATTTTTTAAGGG 0.347 4 8 --- --- --- --- RNF213 57674 broad.mit.edu 37 17 78357707 78357707 + Frame_Shift_Del DEL C C - TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr17:78357707delC ENST00000582970.1 + 59 14444 c.14301delC c.(14299-14301)atfs p.I4767fs RNF213_ENST00000508628.2_Frame_Shift_Del_p.I4816fs|RNF213_ENST00000336301.6_Frame_Shift_Del_p.I2840fs|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAGTGCCCATCCTCTGGCATT 0.507 40 52 --- --- --- --- PSG9 5678 broad.mit.edu 37 19 43772101 43772101 + Frame_Shift_Del DEL T T - TCGA-ER-A19H-06A-12D-A196-08 TCGA-ER-A19H-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25298db1-054a-4d28-95e2-1e05f7ecc43d a8e23db4-c8f9-40d6-8352-f572d3842e51 g.chr19:43772101delT ENST00000244293.7 - 2 331 c.265delA c.(265-267)ttfs p.I90fs PSG9_ENST00000418820.2_Frame_Shift_Del_p.I90fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.I90fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.I90fs|PSG9_ENST00000596730.1_Frame_Shift_Del_p.I90fs|PSG9_ENST00000593948.1_Frame_Shift_Del_p.I90fs|PSG9_ENST00000270077.3_Frame_Shift_Del_p.I90fs Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 90 Ig-like V-type. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) CCATATATAATTATTTTACCA 0.433 83 147 --- --- --- ---