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 CAP1 10487 broad.mit.edu 37 1 40536131 40536131 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr1:40536131G>A uc001cfa.3 + 11 1376 c.1147G>A c.(1147-1149)GAT>AAT p.D383N CAP1_uc001cey.3_Missense_Mutation_p.D383N|CAP1_uc001cez.3_Missense_Mutation_p.D383N|CAP1_uc009vvz.2_Missense_Mutation_p.D383N|CAP1_uc010oje.1_Missense_Mutation_p.D300N NM_006367 NP_006358 Q01518 CAP1_HUMAN adenylyl cyclase-associated protein 383 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding ovary(1) 1 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCTGGTATTCGATGACGTGGT 0.378000 SGIP1 84251 broad.mit.edu 37 1 67199453 67199453 + Missense_Mutation SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr1:67199453A>G uc001dcr.2 + 21 2138 c.1921A>G c.(1921-1923)AAT>GAT p.N641D SGIP1_uc010opd.1_Missense_Mutation_p.N241D|SGIP1_uc001dcs.2_Missense_Mutation_p.N241D|SGIP1_uc001dct.2_Missense_Mutation_p.N243D|SGIP1_uc009wat.2_Missense_Mutation_p.N435D|SGIP1_uc001dcu.2_Missense_Mutation_p.N146D NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 641 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AAATGATGCCAATACCAAGGA 0.348000 OR4X1 390113 broad.mit.edu 37 11 48286169 48286169 + Missense_Mutation SNP T T A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr11:48286169T>A uc010rht.1 + 1 757 c.757T>A c.(757-759)TCC>ACC p.S253T NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 CATACCTTGCTCCTTGGTCTA 0.502000 KIAA1199 57214 broad.mit.edu 37 15 81225778 81225778 + Missense_Mutation SNP A A G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr15:81225778A>G uc002bfw.1 + 22 3246 c.2986A>G c.(2986-2988)ATT>GTT p.I996V KIAA1199_uc010unn.1_Missense_Mutation_p.I996V NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 996 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 GAGAGGGGCCATTTGCAGTGG 0.483000 CDH1 999 broad.mit.edu 37 16 68842463 68842463 + Missense_Mutation SNP T T C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr16:68842463T>C uc002ewg.1 + 4 648 c.524T>C c.(523-525)CTG>CCG p.L175P CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.L175P NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 175 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.V157_Q177del(1)|p.N174fs*38(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CCTAAAAACCTGGTTCAGGTA 0.473000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer ZNF521 25925 broad.mit.edu 37 18 22807194 22807194 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr18:22807194C>G uc002kvk.2 - 4 935 c.688G>C c.(688-690)GGC>CGC p.G230R ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G230R|ZNF521_uc002kvl.2_Missense_Mutation_p.G10R NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 230 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GACTGAGAGCCGTCCTTGTTC 0.512000 T PAX5 ALL LPPR3 79948 broad.mit.edu 37 19 815788 815788 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr19:815788G>A uc002lpx.1 - 3 203 c.139C>T c.(139-141)CCG>TCG p.P47S LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.P47S|LPPR3_uc002lpy.1_5'UTR NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 47 integral to membrane phosphatidate phosphatase activity 0 ACCTTGGCCGGCTTGAAGAGG 0.597000 UPF1 5976 broad.mit.edu 37 19 18956872 18956872 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr19:18956872C>G uc002nkg.2 + 2 590 c.315C>G c.(313-315)TTC>TTG p.F105L UPF1_uc002nkf.2_Missense_Mutation_p.F105L NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 105 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 AGTTGAACTTCGAGGAAGATG 0.582000 GPR39 2863 broad.mit.edu 37 2 133174712 133174712 + Missense_Mutation SNP C C G TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr2:133174712C>G uc002ttl.2 + 1 566 c.97C>G c.(97-99)CTT>GTT p.L33V NM_001508 NP_001499 O43194 GPR39_HUMAN G protein-coupled receptor 39 33 Helical; Name=1; (Potential). integral to plasma membrane G-protein coupled receptor activity|metal ion binding 0 CAAAATCACCCTTATTCTGGT 0.537000 SIGLEC1 6614 broad.mit.edu 37 20 3672111 3672111 + Silent SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr20:3672111G>A uc002wja.2 - 17 4467 c.4467C>T c.(4465-4467)CAC>CAT p.H1489H SIGLEC1_uc002wjb.1_Silent_p.H128H|SIGLEC1_uc002wiz.3_Silent_p.H1489H NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1489 Ig-like C2-type 15.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CAGGCTCCGCGTGCAGCCGCC 0.672000 ITIH1 3697 broad.mit.edu 37 3 52819116 52819116 + Silent SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr3:52819116C>T uc003dfs.2 + 12 1488 c.1464C>T c.(1462-1464)CCC>CCT p.P488P ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.P89P|ITIH1_uc010hmo.1_Silent_p.P42P|ITIH1_uc003dfu.2_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 488 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGCAGTACCCCCAGGATGCTG 0.562000 PHLDB2 90102 broad.mit.edu 37 3 111692580 111692580 + Silent SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr3:111692580C>T uc010hqa.2 + 17 3948 c.3537C>T c.(3535-3537)GAC>GAT p.D1179D PHLDB2_uc003dyc.2_Silent_p.D1163D|PHLDB2_uc003dyd.2_Silent_p.D1136D|PHLDB2_uc003dyg.2_Silent_p.D1179D|PHLDB2_uc003dyh.2_Silent_p.D1136D|PHLDB2_uc003dyi.2_Silent_p.D670D|PHLDB2_uc003dyj.2_Silent_p.D234D NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1179 PH. cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 TCTTTGCAGACAAGCATGAAA 0.254000 PIK3CB 5291 broad.mit.edu 37 3 138374293 138374293 + Missense_Mutation SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr3:138374293C>T uc011bmq.1 - 22 3151 c.3151G>A c.(3151-3153)GAA>AAA p.E1051K PIK3CB_uc011bmn.1_Missense_Mutation_p.E563K|PIK3CB_uc011bmo.1_Missense_Mutation_p.E502K|PIK3CB_uc011bmp.1_Missense_Mutation_p.E638K|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1051 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 GTCCAGCTTTCCCTGAGCGCC 0.423000 PCDHB12 56124 broad.mit.edu 37 5 140588900 140588900 + Missense_Mutation SNP G G C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr5:140588900G>C uc003liz.2 + 1 610 c.421G>C c.(421-423)GAA>CAA p.E141Q PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 141 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGCTCTTAGAAATCCCAGA 0.393000 TTBK1 84630 broad.mit.edu 37 6 43214429 43214429 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr6:43214429G>A uc003ouq.1 + 2 310 c.31G>A c.(31-33)GAA>AAA p.E11K NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 11 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCTTAAGGACGAAACCAACAT 0.667000 COL12A1 1303 broad.mit.edu 37 6 75884763 75884763 + Missense_Mutation SNP T T C TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr6:75884763T>C uc003phs.2 - 13 2867 c.2701A>G c.(2701-2703)ACA>GCA p.T901A COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 901 Fibronectin type-III 5. 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 CCTTCAAGTGTTGTTCCTTCA 0.453000 COL28A1 340267 broad.mit.edu 37 7 7412686 7412686 + Silent SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr7:7412686G>A uc003src.1 - 32 2968 c.2851C>T c.(2851-2853)CTA>TTA p.L951L COL28A1_uc011jxe.1_Silent_p.L634L NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 951 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) GTAGCAATTAGATTCATTTCT 0.418000 PHYHIP 9796 broad.mit.edu 37 8 22079030 22079030 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr8:22079030G>A uc003xbk.3 - 6 1523 c.829C>T c.(829-831)CGC>TGC p.R277C PHYHIP_uc003xbj.3_Missense_Mutation_p.R277C NM_001099335 NP_001092805 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 277 0 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) TGGGCGTGGCGGAAGACCAGC 0.642000 RIMS2 9699 broad.mit.edu 37 8 105257239 105257239 + Nonsense_Mutation SNP C C T TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr8:105257239C>T uc003yls.2 + 24 3725 c.3484C>T c.(3484-3486)CGA>TGA p.R1162* RIMS2_uc003ylp.2_Nonsense_Mutation_p.R1144*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R1151*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.R958*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.R983* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1206 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACAGGCAAGCCGAGAGTCTAC 0.507000 HNSCC(12;0.0054) IPPK 64768 broad.mit.edu 37 9 95396678 95396678 + Missense_Mutation SNP G G A TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr9:95396678G>A uc004asl.1 - 11 1437 c.1160C>T c.(1159-1161)GCG>GTG p.A387V IPPK_uc004ask.1_Missense_Mutation_p.A86V NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 387 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 CTTCGTTAGCGCGAAGGCCAC 0.408000 OREG0019315 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COL5A1 1289 broad.mit.edu 37 9 137622102 137622102 + Silent SNP G G A rs149123775 TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr9:137622102G>A uc004cfe.2 + 7 1327 c.945G>A c.(943-945)ACG>ACA p.T315T NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 315 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGACCCCCACGGAAGCTGCTC 0.642000 PC 5091 broad.mit.edu 37 11 66639596 66639597 + Frame_Shift_Del DEL CT CT - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr11:66639596_66639597delCT uc001ojn.1 - 2 83_84 c.34_35delAG c.(34-36)AGGfs p.R12fs PC_uc001ojo.1_Frame_Shift_Del_p.R12fs|PC_uc001ojp.1_Frame_Shift_Del_p.R12fs NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 12 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TCCCAGGAGCCTCAGGCCCCCA 0.599 AATK 9625 broad.mit.edu 37 17 79094536 79094536 + Frame_Shift_Del DEL G G - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr17:79094536delG uc010dia.2 - 11 3280 c.3200delC c.(3199-3201)CCAfs p.P1067fs AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1067 Pro-rich. integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GCTGGGCTCTGGGGAGGACCC 0.706 SIK1 150094 broad.mit.edu 37 21 44836942 44836942 + Frame_Shift_Del DEL G G - TCGA-BR-8364-01A-11D-2340-08 TCGA-BR-8364-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31604e3a-9873-4f4c-9e47-e503ee4503ad a48dc850-ad6d-4715-bf12-610020a4f411 g.chr21:44836942delG uc002zdf.2 - 14 2159 c.2032delC c.(2032-2034)CAGfs p.Q678fs NM_173354 NP_775490 P57059 SIK1_HUMAN salt-inducible kinase 1 678 anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1) 7 GGGGCCGGCTGGGGGGCCTGG 0.736