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 MPL 4352 broad.mit.edu 37 1 43804269 43804269 + Missense_Mutation SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:43804269G>A uc001ciw.2 + 3 314 c.269G>A c.(268-270)CGA>CAA p.R90Q MPL_uc001civ.2_Missense_Mutation_p.R90Q|MPL_uc009vwr.2_Missense_Mutation_p.R83Q NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 90 Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTGGAACCCGATACGTGTGC 0.572 Mis MPD MPD congenital amegakaryocytic thrombocytopenia C1orf104 284618 broad.mit.edu 37 1 155291139 155291139 + Silent SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:155291139G>A uc001fki.2 - 2 418 c.141C>T c.(139-141)TAC>TAT p.Y47Y RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_RNA|RUSC1_uc001fkj.2_Intron|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqn.1_5'Flank|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank NM_001039517 NP_001034606 Q66K80 RUAS1_HUMAN hypothetical protein LOC284618 47 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.32e-10)|all cancers(21;3.51e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TCCTCTGGGAGTAAGGGGTAG 0.647 SPTA1 6708 broad.mit.edu 37 1 158617395 158617395 + Missense_Mutation SNP C T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:158617395C>T uc001fst.1 - 27 4029 c.3830G>A c.(3829-3831)CGT>CAT p.R1277H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1277 Spectrin 12. 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) ATCCTTTGTACGCCCCTGCAG 0.557 CEP350 9857 broad.mit.edu 37 1 179989186 179989186 + Silent SNP C G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr1:179989186C>G uc001gnt.2 + 12 2660 c.2277C>G c.(2275-2277)CTC>CTG p.L759L CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.2_Silent_p.L593L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 759 centrosome|nucleus|spindle ovary(4) 4 GAAGTTTACTCTCCCATCTCT 0.403 OR5F1 338674 broad.mit.edu 37 11 55761884 55761884 + Missense_Mutation SNP T G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr11:55761884T>G uc010riv.1 - 1 218 c.218A>C c.(217-219)AAC>ACC p.N73T NM_003697 NP_003688 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GGTAGTTGAGTTACAAACGTC 0.443 RFX4 5992 broad.mit.edu 37 12 107048021 107048021 + Nonsense_Mutation SNP T G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr12:107048021T>G uc001tlr.2 + 4 273 c.207T>G c.(205-207)TAT>TAG p.Y69* RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Nonsense_Mutation_p.Y78*|RFX4_uc001tlt.2_Nonsense_Mutation_p.Y78* NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 69 |RFX-type winged-helix. transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 AGGAGAACTATGAGATTGCAG 0.468 NEIL1 79661 broad.mit.edu 37 15 75641495 75641495 + Silent SNP C T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr15:75641495C>T uc002bad.2 + 2 755 c.249C>T c.(247-249)GGC>GGT p.G83G NEIL1_uc002bae.2_Silent_p.G169G NM_024608 NP_078884 Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 83 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding ovary(1) 1 GCATGTCCGGCTCTTTTCAGC 0.687 BER_DNA_glycosylases CAMKK1 84254 broad.mit.edu 37 17 3779538 3779538 + Silent SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:3779538G>A uc002fwt.2 - 10 1069 c.975C>T c.(973-975)TCC>TCT p.S325S CAMKK1_uc002fwu.2_Silent_p.S325S|CAMKK1_uc002fwv.2_Silent_p.S363S NM_172206 NP_757343 Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase 1 325 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1) 1 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) AGCTCTGGCCGGAATCAGAAA 0.622 NF1 4763 broad.mit.edu 37 17 29560133 29560133 + Frame_Shift_Del DEL C - - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:29560133delC uc002hgg.2 + 27 3943 c.3610delC c.(3610-3612)CGGfs p.R1204fs NF1_uc002hgh.2_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.1_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1204 R -> W (in NF1).|R -> G (in NF1). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2)|p.R1204W(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATTGGCTGATCGGTTTGAGAG 0.453 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) NF1 4763 broad.mit.edu 37 17 29661945 29661945 + Nonsense_Mutation SNP C T T rs137854552 TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:29661945C>T uc002hgg.2 + 40 6235 c.5902C>T c.(5902-5904)CGA>TGA p.R1968* NF1_uc002hgh.2_Nonsense_Mutation_p.R1947*|NF1_uc010cso.2_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1968 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.R1968*(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGATGCCAAACGACAAAGAGT 0.368 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T C C rs149439944 by1000genomes TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:39274291T>C uc002hvz.2 - 1 316 c.277A>G c.(277-279)ATG>GTG p.M93V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 14.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.388 ETV4 2118 broad.mit.edu 37 17 41610118 41610118 + Silent SNP A C C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:41610118A>C uc002idw.2 - 8 863 c.735T>G c.(733-735)GGT>GGG p.G245G ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Silent_p.G191G|ETV4_uc010czh.2_Silent_p.G244G|ETV4_uc010wii.1_Silent_p.G206G|ETV4_uc002idx.2_Silent_p.G245G|ETV4_uc010wij.1_Silent_p.G206G NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 245 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CATTGACCCCACCCTGGTCCA 0.617 T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma HOXB8 3218 broad.mit.edu 37 17 46692020 46692020 + Missense_Mutation SNP C G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr17:46692020C>G uc002inw.2 - 1 282 c.47G>C c.(46-48)GGG>GCG p.G16A NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 16 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGGGACTCCCCGGTTTTGTA 0.582 MUC16 94025 broad.mit.edu 37 19 9062384 9062384 + Silent SNP G T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr19:9062384G>T uc002mkp.2 - 3 25266 c.25062C>A c.(25060-25062)ACC>ACA p.T8354T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8356 Ser-rich.|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 TCCTCACGTTGGTCACTGCTG 0.488 ZNF653 115950 broad.mit.edu 37 19 11594572 11594572 + Silent SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr19:11594572G>A uc002mrz.1 - 9 1826 c.1773C>T c.(1771-1773)TGC>TGT p.C591C ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 591 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCGCTTCCCGCAGCGATCGC 0.612 DDX11L2 84771 broad.mit.edu 37 2 114357720 114357720 + Silent SNP A G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr2:114357720A>G uc010yxx.1 - 3 546 c.219T>C c.(217-219)CCT>CCC p.P73P SubName: Full=DEAD/H box polypeptide 11 like 2; 0 CAGCTTGTCCAGGACAGGGTG 0.567 FAM83D 81610 broad.mit.edu 37 20 37580810 37580811 + Frame_Shift_Ins INS - T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr20:37580810_37580811insT uc002xjg.2 + 4 1536_1537 c.1495_1496insT c.(1495-1497)GTAfs p.V499fs NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 469 Ser-rich. cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) AAAAATGTCTGTATCGAGATCT 0.485 PCK1 5105 broad.mit.edu 37 20 56140691 56140691 + Missense_Mutation SNP A C C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr20:56140691A>C uc002xyn.3 + 10 1863 c.1700A>C c.(1699-1701)AAA>ACA p.K567T PCK1_uc010zzm.1_Missense_Mutation_p.K250T NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 567 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CTGAACCTGAAAGGCCTGGGG 0.532 HUNK 30811 broad.mit.edu 37 21 33331245 33331245 + Missense_Mutation SNP C A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr21:33331245C>A uc002yph.2 + 5 1197 c.837C>A c.(835-837)GAC>GAA p.D279E NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 279 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 AGATGGTAGACAAAGAAATGA 0.537 CAMKV 79012 broad.mit.edu 37 3 49896857 49896857 + Missense_Mutation SNP G T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:49896857G>T uc003cxt.1 - 11 1593 c.1400C>A c.(1399-1401)CCG>CAG p.P467Q TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.1_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 467 Ala-rich. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TGTGCTGTCCGGCTGGGCCAT 0.652 C3orf26 84319 broad.mit.edu 37 3 99891168 99891168 + Silent SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:99891168G>A uc003dtl.2 + 8 731 c.588G>A c.(586-588)GCG>GCA p.A196A NM_032359 NP_115735 Q9BQ75 CC026_HUMAN hypothetical protein LOC84319 196 ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(1) 1 AGGTCCAGGCGCAGGTAAAGT 0.413 FXR1 8087 broad.mit.edu 37 3 180651171 180651172 + Frame_Shift_Del DEL AT - - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr3:180651171_180651172delAT uc003fkq.2 + 2 123_124 c.101_102delAT c.(100-102)AATfs p.N34fs FXR1_uc003fkp.2_5'UTR|FXR1_uc003fkr.2_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.1_Intron|FXR1_uc003fks.2_5'UTR|FXR1_uc011bqk.1_Intron|FXR1_uc011bql.1_Frame_Shift_Del_p.N21fs NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 34 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GTTTTTGAAAATAAGTAAGTTA 0.332 RICTOR 253260 broad.mit.edu 37 5 38950386 38950386 + Missense_Mutation SNP A C C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:38950386A>C uc003jlp.2 - 31 3588 c.3564T>G c.(3562-3564)AAT>AAG p.N1188K RICTOR_uc003jlo.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1188 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) CTGTACCAAAATTCTTGGTGA 0.358 SV2C 22987 broad.mit.edu 37 5 75427791 75427791 + Silent SNP C T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:75427791C>T uc003kei.1 + 2 350 c.216C>T c.(214-216)GAC>GAT p.D72D NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 72 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CCAACGATGACGAAGGCTCAA 0.498 ARRDC3 57561 broad.mit.edu 37 5 90671379 90671379 + Missense_Mutation SNP A C C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:90671379A>C uc003kjz.2 - 4 802 c.562T>G c.(562-564)TCA>GCA p.S188A NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 188 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) ATTGGGCCTGAGGTACAGAAC 0.398 CDC23 8697 broad.mit.edu 37 5 137524677 137524677 + Missense_Mutation SNP A G G TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:137524677A>G uc003lcl.2 - 16 1815 c.1784T>C c.(1783-1785)GTC>GCC p.V595A NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 595 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTATGGCGTGACAGAAGACAA 0.493 JAKMIP2 9832 broad.mit.edu 37 5 147012259 147012259 + Missense_Mutation SNP C T T TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr5:147012259C>T uc003loq.1 - 13 2142 c.1760G>A c.(1759-1761)CGA>CAA p.R587Q JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.R587Q NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 587 Potential. Golgi apparatus large_intestine(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTAGGTTTCGAAACTCCAG 0.289 COL12A1 1303 broad.mit.edu 37 6 75866132 75866132 + Missense_Mutation SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr6:75866132G>A uc003phs.2 - 15 3257 c.3091C>T c.(3091-3093)CGC>TGC p.R1031C COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1031 Fibronectin type-III 7. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CCATGAGGGCGATAGACAACA 0.473 CASP8AP2 9994 broad.mit.edu 37 6 90578080 90578080 + Missense_Mutation SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr6:90578080G>A uc003pnr.2 + 8 5267 c.5071G>A c.(5071-5073)GTC>ATC p.V1691I CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.1_Missense_Mutation_p.V1691I NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1691 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GAAAGATCCAGTCACTGAAAC 0.388 PEX1 5189 broad.mit.edu 37 7 92147239 92147239 + Missense_Mutation SNP T C C TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr7:92147239T>C uc003uly.2 - 5 686 c.590A>G c.(589-591)AAA>AGA p.K197R PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.K197R|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 197 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) ATGAAGTTTTTTATATTCAGC 0.388 HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG - - TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr9:35906348_35906350delCTG uc003zyr.1 + 1 160_162 c.64_66delCTG c.(64-66)CTGdel p.L28del NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 Helical; (Potential). integral to membrane 0 TGTGGCGGTCctgctgctgctgc 0.601 KIF12 113220 broad.mit.edu 37 9 116858751 116858751 + Silent SNP G A A TCGA-14-1043-01B-11D-1845-08 TCGA-14-1043-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a439c422-8728-42f5-8dda-6e9e1590478c 778e0059-412a-40b8-98b4-d3e905f5b905 g.chr9:116858751G>A uc004bif.2 - 5 478 c.240C>T c.(238-240)AGC>AGT p.S80S KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 213 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TCCTTCGACGGCTGAGAcctg 0.318