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 TAS1R1 80835 broad.mit.edu 37 1 6634905 6634905 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:6634905G>A uc001ant.2 + 3 713 c.713G>A c.(712-714)TGC>TAC p.C238Y TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Missense_Mutation_p.C238Y NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 238 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) CAGGGGATCTGCATTGCTTTC 0.622 DNAJC11 55735 broad.mit.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC - - TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:6727803_6727804delTC uc001aof.2 - 4 449_450 c.343_344delGA c.(343-345)GAAfs p.E115fs DNAJC11_uc010nzt.1_Frame_Shift_Del_p.E77fs|DNAJC11_uc001aog.2_Frame_Shift_Del_p.E115fs|DNAJC11_uc010nzu.1_Frame_Shift_Del_p.E25fs NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 115 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCCTCTCTTCTCTCTCTCTC 0.505 KLHDC7A 127707 broad.mit.edu 37 1 18808936 18808936 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:18808936G>A uc001bax.2 + 1 1513 c.1461G>A c.(1459-1461)CGG>CGA p.R487R KLHDC7A_uc009vpg.2_Silent_p.R269R NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 487 integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 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) TGCAGCGCCGGCTCCGGGGCC 0.662 RSPO1 284654 broad.mit.edu 37 1 38079485 38079485 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:38079485G>A uc001cbl.1 - 7 1304 c.516C>T c.(514-516)TCC>TCT p.S172S RSPO1_uc001cbm.1_Silent_p.S172S|RSPO1_uc009vvf.1_Silent_p.S145S|RSPO1_uc009vvg.1_Intron NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 172 TSP type-1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCGCTCCTCGGAGCCCCTCC 0.632 MACF1 23499 broad.mit.edu 37 1 39799225 39799225 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:39799225C>T uc010oiu.1 + 1 2416 c.2285C>T c.(2284-2286)GCC>GTC p.A762V MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2327 Plectin 6. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGTCACACTGCCGTGAAGCTT 0.423 MOBKL2C 148932 broad.mit.edu 37 1 47078629 47078629 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:47078629A>G uc001cqf.3 - 2 596 c.365T>C c.(364-366)ATG>ACG p.M122T MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.M174T NM_201403 NP_958805 Q70IA8 MOL2C_HUMAN MOB1, Mps One Binder kinase activator-like 2C 122 metal ion binding pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) GATCCAGTCCATGAGCAATGC 0.637 C1orf177 163747 broad.mit.edu 37 1 55273665 55273665 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:55273665G>A uc001cyb.3 + 4 515 c.461G>A c.(460-462)CGC>CAC p.R154H C1orf177_uc001cya.3_Missense_Mutation_p.R154H NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 154 0 GGGGAGGTTCGCTTCCGAGGA 0.413 INADL 10207 broad.mit.edu 37 1 62253476 62253476 + Silent SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:62253476C>T uc001dab.2 + 8 1014 c.900C>T c.(898-900)AAC>AAT p.N300N INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_Translation_Start_Site NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 300 PDZ 2. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GTGGCACAAACGTGCAGGGAA 0.438 TRIM45 80263 broad.mit.edu 37 1 117663350 117663350 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:117663350G>A uc001egz.2 - 1 1062 c.474C>T c.(472-474)TGC>TGT p.C158C TRIM45_uc009whe.2_Silent_p.C158C|TRIM45_uc001eha.2_Silent_p.C54C NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 158 B box-type 1. cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GAGCCTGGCAGCAGAAGTGGC 0.527 TCHH 7062 broad.mit.edu 37 1 152083970 152083970 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:152083970G>A uc001ezp.2 - 2 1723 c.1723C>T c.(1723-1725)CGC>TGC p.R575C TCHH_uc009wne.1_Missense_Mutation_p.R575C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 575 9 X 28 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTGATCGCGCCTCTCCTCC 0.677 SPTA1 6708 broad.mit.edu 37 1 158606471 158606471 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:158606471C>T uc001fst.1 - 37 5469 c.5270G>A c.(5269-5271)CGC>CAC p.R1757H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1757 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCCCTCTAGGCGTTTGTGCTT 0.383 PYHIN1 149628 broad.mit.edu 37 1 158906881 158906881 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:158906881G>A uc001ftb.2 + 2 426 c.181G>A c.(181-183)GGT>AGT p.G61S PYHIN1_uc001fta.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.2_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.2_Missense_Mutation_p.G61S|PYHIN1_uc001fte.2_Missense_Mutation_p.G61S NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 61 DAPIN. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AGGTGATGCCGGTTTGGGCAA 0.368 IGFN1 91156 broad.mit.edu 37 1 201195009 201195009 + Missense_Mutation SNP C T T rs145852390 TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:201195009C>T uc001gwc.2 + 11 2796 c.2024C>T c.(2023-2025)ACG>ATG p.T675M IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 GGGACGGTGACGGCCGAGTGG 0.687 OR2T33 391195 broad.mit.edu 37 1 248436203 248436203 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr1:248436203G>A uc010pzi.1 - 1 914 c.914C>T c.(913-915)ACG>ATG p.T305M NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTTTACACACGTCCCCAGCCA 0.423 NEBL 10529 broad.mit.edu 37 10 21120216 21120216 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr10:21120216A>G uc001iqi.2 - 16 1977 c.1580T>C c.(1579-1581)TTA>TCA p.L527S NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 527 Nebulin 14. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TTCATTTTCTAAGTCCTTCTT 0.353 ADAM12 8038 broad.mit.edu 37 10 127755335 127755335 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr10:127755335A>G uc001ljk.2 - 13 1786 c.1373T>C c.(1372-1374)CTG>CCG p.L458P ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.2_Missense_Mutation_p.L458P|ADAM12_uc001ljn.2_Missense_Mutation_p.L455P|ADAM12_uc001ljl.3_Missense_Mutation_p.L455P NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 458 Extracellular (Potential).|Disintegrin. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GTCCGGCTTCAGGGTACAGGT 0.547 MICAL2 9645 broad.mit.edu 37 11 12278418 12278418 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:12278418G>A uc001mjz.2 + 24 3330 c.3042G>A c.(3040-3042)CGG>CGA p.R1014R MICAL2_uc010rch.1_Silent_p.R824R|MICAL2_uc001mka.2_Silent_p.R1014R|MICAL2_uc010rci.1_Silent_p.R993R|MICAL2_uc001mkb.2_Silent_p.R788R|MICAL2_uc001mkc.2_Silent_p.R767R|MICAL2_uc001mkd.2_Silent_p.R596R|MICAL2_uc010rcj.1_Silent_p.R226R|MICAL2_uc001mkf.2_RNA NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 1014 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TGATGGAACGGCTGAGCGCCG 0.572 AHNAK 79026 broad.mit.edu 37 11 62288237 62288237 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:62288237G>A uc001ntl.2 - 5 13952 c.13652C>T c.(13651-13653)CCC>CTC p.P4551L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4551 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCCACTTTGGGACCTTTCAG 0.423 GANAB 23193 broad.mit.edu 37 11 62396739 62396739 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:62396739G>A uc001nub.2 - 16 1896 c.1863C>T c.(1861-1863)GCC>GCT p.A621A GANAB_uc001ntz.2_5'Flank|GANAB_uc001nua.2_Silent_p.A643A|GANAB_uc001nuc.2_Silent_p.A524A|GANAB_uc010rma.1_Silent_p.A529A|GANAB_uc010rmb.1_Silent_p.A507A NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 621 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 GGTCCCACTCGGCAGTGTTGT 0.527 MUS81 80198 broad.mit.edu 37 11 65628471 65628471 + Silent SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:65628471C>T uc001ofv.3 + 2 516 c.163C>T c.(163-165)CTG>TTG p.L55L CFL1_uc001ofs.2_5'Flank|CFL1_uc001oft.2_5'Flank|CFL1_uc001ofu.2_5'Flank|MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'Flank NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 55 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) ACGGTACCCACTGCCGCTGCG 0.682 Homologous_recombination OR2AT4 341152 broad.mit.edu 37 11 74800717 74800717 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:74800717G>A uc010rro.1 - 1 42 c.42C>T c.(40-42)CCC>CCT p.P14P NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GATAGAAGACGGGTGAGCCAT 0.478 MLL 4297 broad.mit.edu 37 11 118375649 118375649 + Silent SNP A C C TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr11:118375649A>C uc001pta.2 + 27 9056 c.9033A>C c.(9031-9033)TCA>TCC p.S3011S MLL_uc001ptb.2_Silent_p.S3014S NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3011 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTTGTGGTTCAGTAGAGCAAG 0.502 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL C12orf35 55196 broad.mit.edu 37 12 32137685 32137685 + Missense_Mutation SNP A C C TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr12:32137685A>C uc001rks.2 + 4 4210 c.3796A>C c.(3796-3798)AGC>CGC p.S1266R C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1266 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AAAACATAAAAGCTTACCAAG 0.348 LRP1 4035 broad.mit.edu 37 12 57562923 57562923 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr12:57562923A>G uc001snd.2 + 20 3462 c.2996A>G c.(2995-2997)GAC>GGC p.D999G LRP1_uc009zpi.1_RNA NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 999 Extracellular (Potential).|LDL-receptor class A 6. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCACCGCCAGACAATGACTGT 0.627 UBE3B 89910 broad.mit.edu 37 12 109921388 109921388 + Nonsense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr12:109921388G>A uc001top.2 + 3 635 c.32G>A c.(31-33)TGG>TAG p.W11* UBE3B_uc001toq.2_Nonsense_Mutation_p.W11*|UBE3B_uc001tol.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.2_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.2_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.2_Nonsense_Mutation_p.W11* NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 11 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TCGAGAGCATGGTTCATCGAT 0.512 KDM2B 84678 broad.mit.edu 37 12 121880495 121880495 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr12:121880495C>T uc001uat.2 - 19 2853 c.2749G>A c.(2749-2751)GCG>ACG p.A917T KDM2B_uc001uaq.2_Missense_Mutation_p.A357T|KDM2B_uc010szy.1_Missense_Mutation_p.A357T|KDM2B_uc001uar.2_Missense_Mutation_p.A508T|KDM2B_uc001uas.2_Missense_Mutation_p.A848T|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.A165T|KDM2B_uc010szx.1_Missense_Mutation_p.A165T|KDM2B_uc001uap.2_RNA NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 917 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 CTGGGTCCCGCGGTGGGGGAG 0.627 SACS 26278 broad.mit.edu 37 13 23942617 23942617 + Missense_Mutation SNP C A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr13:23942617C>A uc001uon.2 - 5 858 c.269G>T c.(268-270)GGT>GTT p.G90V SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 90 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CGTTGTCTGACCAAATCGACC 0.393 ATL1 51062 broad.mit.edu 37 14 51027003 51027003 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr14:51027003A>G uc001wyf.3 + 1 261 c.20A>G c.(19-21)GAC>GGC p.D7G ATL1_uc001wyd.3_Missense_Mutation_p.D7G|ATL1_uc001wye.3_Missense_Mutation_p.D7G NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 isoform a 7 Cytoplasmic. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding skin(3)|central_nervous_system(1) 4 AACCGCAGGGACAGAAACAGT 0.632 CLMN 79789 broad.mit.edu 37 14 95677204 95677204 + Silent SNP C T T rs139868659 TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr14:95677204C>T uc001yef.2 - 7 737 c.621G>A c.(619-621)GCG>GCA p.A207A NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 207 Actin-binding.|CH 2. integral to membrane actin binding 0 Epithelial(152;0.193) AGTCCTGCACCGCCACGCCAT 0.582 ATP10A 57194 broad.mit.edu 37 15 25953147 25953147 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr15:25953147G>A uc010ayu.2 - 12 2657 c.2551C>T c.(2551-2553)CTG>TTG p.L851L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 851 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TTGGTCTCCAGGCGAATGGCA 0.537 SERINC4 619189 broad.mit.edu 37 15 44090144 44090144 + Missense_Mutation SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr15:44090144A>G uc010bds.1 - 3 554 c.86T>C c.(85-87)CTT>CCT p.L29P ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_5'UTR|SERINC4_uc001zte.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.2_5'Flank|C15orf63_uc001ztg.1_5'Flank NM_001033517 NP_001028689 A6NH21 SERC4_HUMAN serine incorporator 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment phospholipid biosynthetic process integral to membrane 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) AATGGGCAAAAGCTGTAATAA 0.463 OREG0003944 type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay GRIN2A 2903 broad.mit.edu 37 16 9857047 9857047 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr16:9857047G>A uc002czo.3 - 13 4902 c.4354C>T c.(4354-4356)CGC>TGC p.R1452C GRIN2A_uc010uym.1_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1452 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGTACACGCGTCTATTGCTG 0.363 GRIN2A 2903 broad.mit.edu 37 16 9934645 9934645 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr16:9934645G>A uc002czo.3 - 7 2058 c.1510C>T c.(1510-1512)CGG>TGG p.R504W GRIN2A_uc010uym.1_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.1_Missense_Mutation_p.R347W|GRIN2A_uc002czr.3_Missense_Mutation_p.R504W NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 504 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGACTGCCCGTTGATAGACC 0.453 CDH15 1013 broad.mit.edu 37 16 89261354 89261354 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr16:89261354G>A uc002fmt.2 + 14 2313 c.2236G>A c.(2236-2238)GCG>ACG p.A746T NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 746 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CGGCTCGGTGGCGGGGACGCT 0.637 PFAS 5198 broad.mit.edu 37 17 8158344 8158344 + Splice_Site SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr17:8158344G>A uc002gkr.2 + 4 420 c.279_splice c.e4-1 p.R93_splice PFAS_uc010vuv.1_Splice_Site NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCATTGTTCAGGCTGAACTTC 0.632 NTN1 9423 broad.mit.edu 37 17 9066204 9066204 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr17:9066204G>A uc002glw.3 + 3 1200 c.1093G>A c.(1093-1095)GGA>AGA p.G365R NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 365 Laminin EGF-like 2. apoptosis|axon guidance protein binding 0 GCGCAAGAGCGGAGGTGTCTG 0.627 DGKE 8526 broad.mit.edu 37 17 54925329 54925329 + Missense_Mutation SNP G T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr17:54925329G>T uc002iur.2 + 5 971 c.791G>T c.(790-792)TGT>TTT p.C264F DGKE_uc002ius.1_Missense_Mutation_p.C264F NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 264 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) CTACAACTCTGTACTCTTCTC 0.388 MIDN 90007 broad.mit.edu 37 19 1257138 1257138 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr19:1257138G>A uc002lrp.2 + 8 1789 c.1274G>A c.(1273-1275)GGC>GAC p.G425D NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 425 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CGCAAGGCCGGCCGCAGCGAC 0.697 FUT3 2525 broad.mit.edu 37 19 5844200 5844200 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr19:5844200G>A uc002mdk.2 - 2 748 c.651C>T c.(649-651)CTC>CTT p.L217L FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L NM_001097641 NP_001091110 P21217 FUT3_HUMAN fucosyltransferase 3 217 Lumenal (Potential). protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity 0 CGTCCACCTTGAGATGAGCCT 0.622 RAB11B 9230 broad.mit.edu 37 19 8464851 8464851 + Missense_Mutation SNP G T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr19:8464851G>T uc002mju.3 + 2 241 c.145G>T c.(145-147)GCC>TCC p.A49S RAB11B_uc010xkd.1_Missense_Mutation_p.A49S NM_004218 NP_004209 Q15907 RB11B_HUMAN RAB11B, member RAS oncogene family 49 cell cycle|protein transport|small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity 0 CGTGGAGTTCGCCACCCGCAG 0.652 MUC16 94025 broad.mit.edu 37 19 9069909 9069909 + Missense_Mutation SNP C A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr19:9069909C>A uc002mkp.2 - 3 17741 c.17537G>T c.(17536-17538)AGG>ATG p.R5846M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5848 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGTGGAGAGCCTGGTGATGGT 0.488 FBXL12 54850 broad.mit.edu 37 19 9929295 9929296 + Splice_Site INS - G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr19:9929295_9929296insG uc002mme.2 - 2 329 c.87_splice c.e2-1 p.R29_splice FBXL12_uc002mmd.2_5'UTR|FBXL12_uc002mmf.2_Splice_Site|FBXL12_uc002mmg.2_Splice_Site|FBXL12_uc002mmh.2_Splice_Site NM_017703 NP_060173 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 protein binding lung(1)|kidney(1) 2 TGACAGACCCTGGGGGAGGGGA 0.723 CCDC85A 114800 broad.mit.edu 37 2 56603032 56603032 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr2:56603032C>T uc002rzn.2 + 5 2036 c.1534C>T c.(1534-1536)CCT>TCT p.P512S NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 512 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACATGCCACACCTTCCCAGCA 0.473 POLR1B 84172 broad.mit.edu 37 2 113315616 113315616 + Missense_Mutation SNP T C C TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr2:113315616T>C uc002thw.2 + 8 1868 c.1288T>C c.(1288-1290)TTT>CTT p.F430L POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Missense_Mutation_p.F468L|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 430 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(1) 1 TACAAAACCATTTGAATACCT 0.328 TTN 7273 broad.mit.edu 37 2 179410767 179410767 + Silent SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr2:179410767C>T uc010zfg.1 - 292 87716 c.87492G>A c.(87490-87492)CCG>CCA p.P29164P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P22859P|TTN_uc010zfi.1_Silent_p.P22792P|TTN_uc010zfj.1_Silent_p.P22667P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30091 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CGTCTTCCTGCGGAAGGCTCC 0.527 CRYGC 1420 broad.mit.edu 37 2 208993026 208993026 + Silent SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr2:208993026C>T uc002vco.3 - 3 464 c.426G>A c.(424-426)CGG>CGA p.R142R NM_020989 NP_066269 P07315 CRGC_HUMAN crystallin, gamma C 142 Beta/gamma crystallin 'Greek key' 4. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GCAGGTATTGCCGCCCCCGGT 0.622 PNKD 25953 broad.mit.edu 37 2 219206751 219206751 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr2:219206751G>A uc002vhn.2 + 7 809 c.665G>A c.(664-666)CGG>CAG p.R222Q PNKD_uc002vhq.2_Missense_Mutation_p.R198Q NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 222 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTTCAGATCCGGGCCCTGGCT 0.597 MATN4 8785 broad.mit.edu 37 20 43933304 43933304 + Silent SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr20:43933304G>A uc002xnn.2 - 3 394 c.207C>T c.(205-207)AAC>AAT p.N69N MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 69 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CGCGCGTGGCGTTGGGACCCA 0.642 LAMA5 3911 broad.mit.edu 37 20 60897158 60897158 + Missense_Mutation SNP C T T rs143066016 byFrequency TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr20:60897158C>T uc002ycq.2 - 48 6480 c.6413G>A c.(6412-6414)AGC>AAC p.S2138N NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 2138 Laminin EGF-like 22. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGCTCCCCGCTGAGCCCCGG 0.701 SGOL1 151648 broad.mit.edu 37 3 20225255 20225255 + Missense_Mutation SNP T C C TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr3:20225255T>C uc003cbs.2 - 3 371 c.184A>G c.(184-186)AAA>GAA p.K62E SGOL1_uc003cbr.2_Missense_Mutation_p.K62E|SGOL1_uc010hfa.2_Missense_Mutation_p.K62E|SGOL1_uc003cbt.2_Missense_Mutation_p.K62E|SGOL1_uc003cbu.2_Missense_Mutation_p.K62E|SGOL1_uc003cbv.2_Missense_Mutation_p.K62E|SGOL1_uc003cbw.2_Missense_Mutation_p.K62E|SGOL1_uc003cbx.2_Missense_Mutation_p.K62E|SGOL1_uc003cby.2_Missense_Mutation_p.K62E|SGOL1_uc003cbz.2_Missense_Mutation_p.K62E|SGOL1_uc003cca.2_Missense_Mutation_p.K62E|SGOL1_uc003ccb.2_Missense_Mutation_p.K62E|SGOL1_uc003ccc.2_Missense_Mutation_p.K62E NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 62 Potential.|Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 ACTAACATTTTGTTGTTGTCT 0.294 MAPKAPK3 7867 broad.mit.edu 37 3 50655078 50655078 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr3:50655078C>T uc003day.1 + 4 678 c.82C>T c.(82-84)CCG>TCG p.P28S MAPKAPK3_uc003daz.1_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.1_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.P28S NM_004635 NP_004626 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated 28 P -> S (in a glioblastoma multiforme sample; somatic mutation). activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.P28S(1) ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGGCGGTGCTCCGGGGGGGCG 0.697 CASR 846 broad.mit.edu 37 3 122003457 122003457 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr3:122003457C>T uc003eev.3 + 7 3028 c.2656C>T c.(2656-2658)CGG>TGG p.R886W CASR_uc003eew.3_Missense_Mutation_p.R896W NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 886 Cytoplasmic (Potential).|Interaction with RNF19A. R -> W (could be associated with FHH). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GGTGGCTGCCCGGGCCACGCT 0.612 GHSR 2693 broad.mit.edu 37 3 172165482 172165482 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr3:172165482C>T uc003fib.1 - 1 722 c.722G>A c.(721-723)CGG>CAG p.R241Q GHSR_uc011bpv.1_Missense_Mutation_p.R241Q NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 241 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCGCCTCCTCCGCCACAGCTT 0.602 WDFY3 23001 broad.mit.edu 37 4 85634313 85634313 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr4:85634313C>T uc003hpd.2 - 51 8449 c.8041G>A c.(8041-8043)GGA>AGA p.G2681R WDFY3_uc003hpe.1_Missense_Mutation_p.G292R NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2681 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ACCACCTACCCCTGCTCCACA 0.398 SLCO6A1 133482 broad.mit.edu 37 5 101834365 101834365 + Missense_Mutation SNP C T T rs144293843 TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr5:101834365C>T uc003knn.2 - 1 356 c.184G>A c.(184-186)GGC>AGC p.G62S SLCO6A1_uc003kno.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.2_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.2_Missense_Mutation_p.G62S NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 62 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CGGAAACCGCCGAACCTTATC 0.537 TFAP2B 7021 broad.mit.edu 37 6 50791291 50791291 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr6:50791291C>T uc003pag.2 + 2 419 c.253C>T c.(253-255)CCC>TCC p.P85S NM_003221 NP_003212 Q92481 AP2B_HUMAN transcription factor AP-2 beta 85 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 Lung NSC(77;0.156) GAGCCAGGACCCCTACTCCCA 0.682 GJA10 84694 broad.mit.edu 37 6 90605129 90605129 + Missense_Mutation SNP C A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr6:90605129C>A uc011eaa.1 + 1 942 c.942C>A c.(940-942)GAC>GAA p.D314E NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 314 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TTGAAGTAGACCCTTCCAATG 0.498 C7orf11 136647 broad.mit.edu 37 7 40172717 40172717 + Missense_Mutation SNP T C C TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr7:40172717T>C uc003thl.3 - 2 573 c.481A>G c.(481-483)AGC>GGC p.S161G C7orf10_uc003thm.1_5'Flank|C7orf10_uc003thn.1_5'Flank|C7orf10_uc003tho.1_5'Flank NM_138701 NP_619646 Q8TAP9 TTDN1_HUMAN chromosome 7 open reading frame 11 161 cell division|mitosis microtubule organizing center|nucleus breast(1) 1 TATTGTTGGCTTATATCCACT 0.363 Direct_reversal_of_damage|Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents ADCY1 107 broad.mit.edu 37 7 45717835 45717835 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr7:45717835G>A uc003tne.3 + 10 1889 c.1871G>A c.(1870-1872)GGC>GAC p.G624D NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 624 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCCTTATTTGGCCTTGTCTAC 0.493 SUN3 256979 broad.mit.edu 37 7 48056901 48056901 + Silent SNP A G G TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr7:48056901A>G uc003tof.2 - 4 343 c.246T>C c.(244-246)TAT>TAC p.Y82Y SUN3_uc003tog.2_Silent_p.Y82Y|SUN3_uc011kcf.1_Silent_p.Y70Y NM_152782 NP_689995 Q8TAQ9 SUN3_HUMAN Sad1 and UNC84 domain containing 1 82 integral to membrane central_nervous_system(1) 1 CAATTATGGCATATAATTGTC 0.299 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) TRPM3 80036 broad.mit.edu 37 9 73213424 73213424 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr9:73213424C>T uc004aid.2 - 20 3167 c.2923G>A c.(2923-2925)GTG>ATG p.V975M TRPM3_uc004ahu.2_Missense_Mutation_p.V805M|TRPM3_uc004ahv.2_Missense_Mutation_p.V777M|TRPM3_uc004ahw.2_Missense_Mutation_p.V847M|TRPM3_uc004ahx.2_Missense_Mutation_p.V834M|TRPM3_uc004ahy.2_Missense_Mutation_p.V837M|TRPM3_uc004ahz.2_Missense_Mutation_p.V824M|TRPM3_uc004aia.2_Missense_Mutation_p.V822M|TRPM3_uc004aib.2_Missense_Mutation_p.V812M|TRPM3_uc004aic.2_Missense_Mutation_p.V975M NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1000 Helical; (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 ATGATGTTCACGCAGTAGATG 0.483 ERP44 23071 broad.mit.edu 37 9 102784454 102784454 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chr9:102784454C>T uc004bam.2 - 5 549 c.341G>A c.(340-342)CGT>CAT p.R114H ERP44_uc010msy.2_RNA|ERP44_uc010msz.2_Missense_Mutation_p.R114H NM_015051 NP_055866 Q9BS26 ERP44_HUMAN thioredoxin domain containing 4 (endoplasmic 114 Thioredoxin. cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment protein binding|protein disulfide isomerase activity 0 CATCCCATTACGAAACAATTT 0.393 ASMT 438 broad.mit.edu 37 X 1746630 1746630 + Missense_Mutation SNP G A A TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chrX:1746630G>A uc004cqd.2 + 5 554 c.409G>A c.(409-411)GTT>ATT p.V137I ASMT_uc010ncy.2_Missense_Mutation_p.V137I|ASMT_uc004cqe.2_Missense_Mutation_p.V137I NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 137 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GACGTTTGGCGTTCCCGCTGA 0.338 NR0B1 190 broad.mit.edu 37 X 30327199 30327199 + Silent SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chrX:30327199C>T uc004dcf.3 - 1 297 c.282G>A c.(280-282)CCG>CCA p.P94P NM_000475 NP_000466 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 94 4 X 67 AA tandem repeats.|2. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding ovary(1)|lung(1) 2 Dexamethasone(DB01234)|Tretinoin(DB00755) CGGGCGCCTTCGGTGCCGCGT 0.687 KIAA2022 340533 broad.mit.edu 37 X 73962950 73962950 + Missense_Mutation SNP C T T TCGA-28-5213-01A-01D-1486-08 TCGA-28-5213-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx b866e742-5ed0-4d7d-b96c-52f8f6f37142 c73947a3-b996-4e71-98ea-c30c8de3069c g.chrX:73962950C>T uc004eby.2 - 3 2059 c.1442G>A c.(1441-1443)CGA>CAA p.R481Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 481 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TCTCTTGGCTCGCAGCCCATA 0.453