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 ESPNP 284729 broad.mit.edu 37 1 17026476 17026476 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr1:17026476C>T uc001azn.1 - 7 1210 c.1096G>A c.(1096-1098)GAC>AAC p.D366N NR_026567 RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein; 0 CGGCTGGAGTCCTGCCTCCGT 0.736 KIAA0090 23065 broad.mit.edu 37 1 19557342 19557342 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr1:19557342C>T uc001bbo.2 - 17 2103 c.2060G>A c.(2059-2061)CGA>CAA p.R687Q KIAA0090_uc001bbp.2_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.R665Q NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 687 Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) TCCTACCTTTCGAAGCCGATA 0.502 HRNR 388697 broad.mit.edu 37 1 152185734 152185734 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr1:152185734C>T uc001ezt.1 - 3 8447 c.8371G>A c.(8371-8373)GGC>AGC p.G2791S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2791 30. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGAGCCAGACCCATGT 0.557 SOX13 9580 broad.mit.edu 37 1 204092264 204092265 + Missense_Mutation DNP CC AA AA TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr1:204092264_204092265CC>AA uc001ham.2 + 11 1754_1755 c.1159_1160CC>AA c.(1159-1161)CCA>AAA p.P387K SOX13_uc010pqp.1_Missense_Mutation_p.P386K|SOX13_uc010pqq.1_Missense_Mutation_p.P254K NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 387 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) GGACTCATCCCCAGCCAAGGAG 0.634 REN 5972 broad.mit.edu 37 1 204125330 204125330 + Missense_Mutation SNP C A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr1:204125330C>A uc001haq.2 - 8 980 c.936G>T c.(934-936)TTG>TTT p.L312F NM_000537 NP_000528 P00797 RENI_HUMAN renin preproprotein 312 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity skin(3)|central_nervous_system(1) 4 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) TCTTGGCTCCCAAGGCCTCCA 0.567 PTEN 5728 broad.mit.edu 37 10 89720855 89720856 + Frame_Shift_Ins INS - A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr10:89720855_89720856insA uc001kfb.2 + 9 2037_2038 c.1006_1007insA c.(1006-1008)TACfs p.Y336fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 336 C2 tensin-type. Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.Y336*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.Y336F(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGCCAACCGATACTTTTCTCCA 0.337 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) USH1C 10083 broad.mit.edu 37 11 17519716 17519716 + Missense_Mutation SNP T C C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr11:17519716T>C uc001mnf.2 - 19 1692 c.1583A>G c.(1582-1584)CAG>CGG p.Q528R USH1C_uc001mne.2_Missense_Mutation_p.Q828R|USH1C_uc009yhb.2_Missense_Mutation_p.Q509R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.Q492R NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 528 PDZ 3. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 TACCCCGCCCTGATTCCAGGC 0.577 PRG2 5553 broad.mit.edu 37 11 57155245 57155245 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr11:57155245C>T uc001njz.2 - 4 619 c.592G>A c.(592-594)GTG>ATG p.V198M PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.V198M|PRG2_uc001nkb.2_Missense_Mutation_p.V198M|PRG2_uc001nkd.2_Missense_Mutation_p.V187M|PRG2_uc001nkc.2_Missense_Mutation_p.V198M|PRG2_uc001nke.2_Missense_Mutation_p.V478M NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 198 C-type lectin. defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 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) Sargramostim(DB00020) CACAGGGCCACGCAGTGACCA 0.617 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C T T rs121913529 TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) AQP2 359 broad.mit.edu 37 12 50344911 50344911 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr12:50344911G>A uc001rvn.2 + 1 388 c.298G>A c.(298-300)GGA>AGA p.G100R NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 100 Helical; (Potential). G -> R (in ANDI). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 GGCTGTGGCCGGAGCCGCTCT 0.647 NACA 4666 broad.mit.edu 37 12 57108166 57108166 + Missense_Mutation SNP T C C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr12:57108166T>C uc001slz.2 - 4 563 c.214A>G c.(214-216)AGT>GGT p.S72G NACA_uc001sly.2_Missense_Mutation_p.S72G|NACA_uc009zoy.1_Missense_Mutation_p.S1935G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smb.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron NM_001113201 NP_001106672 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha 72 Required for DNA-binding (By similarity).|NAC-A/B. interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding ovary(1) 1 TTCTTTTCACTCCGACTCTGT 0.358 T BCL6 NHL OR4K2 390431 broad.mit.edu 37 14 20345324 20345324 + Missense_Mutation SNP A G G TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr14:20345324A>G uc001vwh.1 + 1 898 c.898A>G c.(898-900)AAA>GAA p.K300E NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCCATGAGGAAACTGAAAAA 0.348 TTC5 91875 broad.mit.edu 37 14 20760171 20760171 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr14:20760171G>A uc001vwt.2 - 9 1231 c.1174C>T c.(1174-1176)CGG>TGG p.R392W TTC5_uc001vwu.2_Missense_Mutation_p.R249W NM_138376 NP_612385 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 392 DNA repair cytoplasm|nucleus binding ovary(1) 1 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) CGGTGAAGCCGCAGGTTGGGC 0.453 LTB4R2 56413 broad.mit.edu 37 14 24779987 24779987 + Silent SNP C A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr14:24779987C>A uc001woq.1 + 1 1827 c.210C>A c.(208-210)GGC>GGA p.G70G CIDEB_uc001won.2_5'Flank|CIDEB_uc001woo.2_5'UTR|CIDEB_uc001wop.2_5'UTR|LTB4R2_uc010alo.2_Silent_p.G39G|LTB4R2_uc001wor.2_Silent_p.G39G|LTB4R_uc001wos.2_5'Flank|LTB4R_uc010alp.2_5'Flank NM_019839 NP_062813 Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 70 Helical; Name=1; (Potential). chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane 0 GBM - Glioblastoma multiforme(265;0.018) CTGGCAACGGCTTCGTGGTGT 0.726 BAZ1A 11177 broad.mit.edu 37 14 35331298 35331298 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr14:35331298C>T uc001wsk.2 - 3 912 c.344G>A c.(343-345)CGA>CAA p.R115Q BAZ1A_uc001wsl.2_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 115 WAC.|Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) GACAAAATATCGATCCTTGAC 0.358 GJD2 57369 broad.mit.edu 37 15 35045056 35045056 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr15:35045056G>A uc001zis.1 - 2 589 c.589C>T c.(589-591)CGC>TGC p.R197C uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 197 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) ATGTAGAAGCGGGAGATGCCT 0.483 BAHD1 22893 broad.mit.edu 37 15 40750942 40750942 + Silent SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr15:40750942G>A uc001zlu.2 + 2 350 c.279G>A c.(277-279)CCG>CCA p.P93P BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 93 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) ATGAGCTACCGCCTGACCTGC 0.662 STRC 161497 broad.mit.edu 37 15 43893602 43893602 + Missense_Mutation SNP T C C rs141809944 TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr15:43893602T>C uc001zsf.2 - 24 4771 c.4693A>G c.(4693-4695)ACC>GCC p.T1565A STRC_uc010bdl.2_Missense_Mutation_p.T792A|STRC_uc001zse.2_Missense_Mutation_p.T83A NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1565 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACCTGAGTGGTGCTCCAGCCA 0.522 SEC14L5 9717 broad.mit.edu 37 16 5058451 5058451 + Silent SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr16:5058451G>A uc002cye.2 + 14 1782 c.1602G>A c.(1600-1602)TCG>TCA p.S534S NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 534 GOLD. integral to membrane|intracellular transporter activity 0 AAGGAGAGTCGGTCATCACCT 0.642 APPBP2 10513 broad.mit.edu 37 17 58603208 58603208 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr17:58603208G>A uc002iys.1 - 1 373 c.85C>T c.(85-87)CGC>TGC p.R29C APPBP2_uc010ddl.1_5'UTR NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 29 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ATGTCTCGGCGGGAGCGGATG 0.562 CD300LD 100131439 broad.mit.edu 37 17 72576247 72576247 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr17:72576247G>A uc002jkz.2 - 4 508 c.479C>T c.(478-480)CCG>CTG p.P160L NM_001115152 NP_001108624 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d precursor 160 Extracellular (Potential). integral to membrane|plasma membrane receptor activity 0 GCTCTTGAGCGGGGACCTGTG 0.572 SERPINB7 8710 broad.mit.edu 37 18 61471645 61471645 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr18:61471645C>T uc002ljl.2 + 8 1015 c.919C>T c.(919-921)CTC>TTC p.L307F SERPINB7_uc002ljm.2_Missense_Mutation_p.L307F|SERPINB7_uc010xet.1_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.2_Missense_Mutation_p.L307F NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 307 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) CAAAGCAGATCTCTCTGGGAT 0.433 ATP9B 374868 broad.mit.edu 37 18 77037059 77037059 + Missense_Mutation SNP G A A rs149013492 TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr18:77037059G>A uc002lmx.2 + 13 1288 c.1274G>A c.(1273-1275)CGT>CAT p.R425H ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 425 Helical; (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GGCAGTTTGCGTGTGAACTTG 0.493 S1PR2 9294 broad.mit.edu 37 19 10335447 10335447 + Silent SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr19:10335447G>A uc002mnl.2 - 2 246 c.135C>T c.(133-135)TGC>TGT p.C45C NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 45 Helical; Name=1; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 CCACAATGGCGCAACAGAGGA 0.567 CILP2 148113 broad.mit.edu 37 19 19655680 19655680 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr19:19655680C>T uc002nmv.3 + 8 2411 c.2326C>T c.(2326-2328)CGT>TGT p.R776C CILP2_uc002nmw.3_Missense_Mutation_p.R782C NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 776 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CGCCAACCCCCGTGCCTGGGG 0.711 LILRA3 11026 broad.mit.edu 37 19 54803127 54803127 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr19:54803127C>T uc002qfd.2 - 4 615 c.550G>A c.(550-552)GTG>ATG p.V184M LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 184 Ig-like C2-type 2. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACGGGGCCCACGGAGAAGATG 0.567 NLRP4 147945 broad.mit.edu 37 19 56382302 56382302 + Missense_Mutation SNP G A A rs140263319 by1000genomes TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr19:56382302G>A uc002qmd.3 + 7 2886 c.2464G>A c.(2464-2466)GAA>AAA p.E822K NLRP4_uc002qmf.2_Missense_Mutation_p.E747K|NLRP4_uc010etf.2_Missense_Mutation_p.E597K NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 822 LRR 5. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCTGAAGGACGAAGGACTGAA 0.512 GLI2 2736 broad.mit.edu 37 2 121748070 121748070 + Missense_Mutation SNP G T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr2:121748070G>T uc010flp.2 + 13 4610 c.4580G>T c.(4579-4581)GGT>GTT p.G1527V GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G1199V|GLI2_uc002tmu.3_Missense_Mutation_p.G1182V NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1527 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) TTGTTCTCGGGTGCTCTGAGC 0.622 RBCK1 10616 broad.mit.edu 37 20 390566 390566 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr20:390566G>A uc002wdp.3 + 2 757 c.64G>A c.(64-66)GGG>AGG p.G22R RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Intron|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron|RBCK1_uc002wdo.2_RNA NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 22 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) AGTGGCGGGCGGGGATGAACA 0.582 COL18A1 80781 broad.mit.edu 37 21 46897864 46897864 + Frame_Shift_Del DEL A - - TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr21:46897864delA uc011afs.1 + 7 2472 c.2451delA c.(2449-2451)GGAfs p.G817fs COL18A1_uc002zhg.2_Frame_Shift_Del_p.G402fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G582fs NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 817 Triple-helical region 2 (COL2). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GCACCCCTGGAAGGGACGGCG 0.726 SEMA3G 56920 broad.mit.edu 37 3 52475334 52475334 + Silent SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr3:52475334C>T uc003dea.1 - 7 759 c.759G>A c.(757-759)TCG>TCA p.S253S NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 253 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) CACCATCGGGCGAGGGGACCG 0.617 UGT2B4 7363 broad.mit.edu 37 4 70346533 70346533 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr4:70346533C>T uc003hek.3 - 6 1453 c.1406G>A c.(1405-1407)CGC>CAC p.R469H UGT2B4_uc011cap.1_Missense_Mutation_p.R333H|UGT2B4_uc003hel.3_3'UTR NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 469 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TCCTTTATGGCGCATGACAAA 0.473 NPR3 4883 broad.mit.edu 37 5 32774858 32774858 + Silent SNP C T T rs140897654 by1000genomes TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr5:32774858C>T uc003jhv.2 + 4 1322 c.1104C>T c.(1102-1104)TAC>TAT p.Y368Y NPR3_uc010iuo.2_Silent_p.Y152Y|NPR3_uc011cnz.1_Silent_p.Y152Y|NPR3_uc003jhu.2_Silent_p.Y368Y NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 368 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) TCCTCCTCTACGTCTTGGCTC 0.443 STK32A 202374 broad.mit.edu 37 5 146750222 146750222 + Silent SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr5:146750222G>A uc010jgn.1 + 9 946 c.666G>A c.(664-666)CCG>CCA p.P222P STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc011dbw.1_Silent_p.P222P NM_001112724 NP_001106195 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A isoform 1 222 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity lung(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAGAGACCGTATCATATTC 0.378 ABLIM3 22885 broad.mit.edu 37 5 148619445 148619445 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr5:148619445C>T uc003lpy.2 + 13 1449 c.1198C>T c.(1198-1200)CGC>TGC p.R400C ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.2_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.2_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C NM_014945 NP_055760 O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 400 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACTACTACCGCTCTGGTAA 0.647 HLA-H 3136 broad.mit.edu 37 6 29855999 29855999 + Missense_Mutation SNP G A A rs113415054 by1000genomes TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr6:29855999G>A uc010jro.2 + 2 288 c.236G>A c.(235-237)GGC>GAC p.G79D HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H; 0 CAGAGCGAGGGCGGTGAGTGA 0.667 MYO6 4646 broad.mit.edu 37 6 76566831 76566834 + Frame_Shift_Del DEL AGCA - - TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr6:76566831_76566834delAGCA uc003pih.1 + 13 1520_1523 c.1241_1244delAGCA c.(1240-1245)GAGCAAfs p.E414fs MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 414_415 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CTGAAAGTGGAGCAAGCAAACAAT 0.377 PKD1L1 168507 broad.mit.edu 37 7 47869692 47869692 + Silent SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr7:47869692C>T uc003tny.1 - 43 6504 c.6504G>A c.(6502-6504)CTG>CTA p.L2168L C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2168 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 ACAGCAGGTGCAGCCACTGCA 0.577 ZP3 7784 broad.mit.edu 37 7 76054396 76054396 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr7:76054396G>A uc003ufd.3 + 1 125 c.115G>A c.(115-117)GTA>ATA p.V39I ZP3_uc003ufc.3_5'UTR NM_001110354 NP_001103824 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 1 39 Extracellular (Potential). binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 TGAGACGTCCGTACAGCCCGT 0.592 RBM28 55131 broad.mit.edu 37 7 127954955 127954956 + Missense_Mutation DNP GG TT TT TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr7:127954955_127954956GG>TT uc003vmp.2 - 17 2021_2022 c.1906_1907CC>AA c.(1906-1908)CCA>AAA p.P636K RBM28_uc003vmo.2_Missense_Mutation_p.P178K|RBM28_uc011koj.1_Missense_Mutation_p.P495K NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 636 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 CTTCTGCTCTGGGGGCACCTTG 0.564 MLL3 58508 broad.mit.edu 37 7 151945253 151945253 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr7:151945253C>T uc003wla.2 - 14 2485 c.2266G>A c.(2266-2268)GGA>AGA p.G756R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 756 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GATTTGCCTCCTTGGTATGAA 0.393 N medulloblastoma PTPRN2 5799 broad.mit.edu 37 7 157985120 157985120 + Missense_Mutation SNP C T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr7:157985120C>T uc003wno.2 - 5 569 c.448G>A c.(448-450)GCC>ACC p.A150T PTPRN2_uc003wnp.2_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.2_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.2_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.1_Missense_Mutation_p.A173T NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 150 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CGTCGGAGGGCGTTGGCCAGG 0.652 VPS13B 157680 broad.mit.edu 37 8 100821739 100821739 + Missense_Mutation SNP T C C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr8:100821739T>C uc003yiv.2 + 44 8264 c.8153T>C c.(8152-8154)CTC>CCC p.L2718P VPS13B_uc003yiw.2_Missense_Mutation_p.L2693P NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2718 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTTCAGCAACTCAATGGAGTA 0.383 PRUNE2 158471 broad.mit.edu 37 9 79324782 79324782 + Missense_Mutation SNP A T T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr9:79324782A>T uc010mpk.2 - 8 2532 c.2408T>A c.(2407-2409)TTT>TAT p.F803Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 803 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTCTTTACCAAATGCACTCCA 0.517 SVEP1 79987 broad.mit.edu 37 9 113171158 113171158 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr9:113171158G>A uc010mtz.2 - 38 7059 c.6722C>T c.(6721-6723)CCT>CTT p.P2241L SVEP1_uc010mty.2_Missense_Mutation_p.P167L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2241 Sushi 14. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GACAAATACAGGACTTCCGAC 0.507 C9orf84 158401 broad.mit.edu 37 9 114475419 114475419 + Missense_Mutation SNP C G G TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr9:114475419C>G uc004bfr.2 - 16 2392 c.2257G>C c.(2257-2259)GAA>CAA p.E753Q C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E714Q|C9orf84_uc010mug.2_Missense_Mutation_p.E664Q NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 753 ovary(2) 2 AAATGTTTTTCACCGTCTGAG 0.259 PAPPA 5069 broad.mit.edu 37 9 118982397 118982397 + Silent SNP T C C TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chr9:118982397T>C uc004bjn.2 + 5 2481 c.2100T>C c.(2098-2100)CAT>CAC p.H700H PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 700 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TAGATGGCCATTTCTTTGAAA 0.547 FAM47C 442444 broad.mit.edu 37 X 37027712 37027712 + Missense_Mutation SNP G A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chrX:37027712G>A uc004ddl.1 + 1 1243 c.1229G>A c.(1228-1230)CGC>CAC p.R410H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 410 ovary(3) 3 CCCAAGACTCGCATATCTAAT 0.607 DDX3X 1654 broad.mit.edu 37 X 41206682 41206683 + In_Frame_Ins INS - AGC AGC TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chrX:41206682_41206683insAGC uc004dfe.2 + 16 2742_2743 c.1887_1888insAGC c.(1885-1890)insAGC p.631_632insS DDX3X_uc004dff.2_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.1_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.1_In_Frame_Ins_p.501_502insS|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 631_632 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 gtggccacggtagcagcagAGG 0.228 HNSCC(61;0.18) STAG2 10735 broad.mit.edu 37 X 123197784 123197784 + Nonsense_Mutation SNP C G G TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chrX:123197784C>G uc004etz.3 + 19 2247 c.1908C>G c.(1906-1908)TAC>TAG p.Y636* STAG2_uc004eua.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.2_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.2_Nonsense_Mutation_p.Y636* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 636 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CTAAAACTTACCATGCACTCT 0.363 FRMD7 90167 broad.mit.edu 37 X 131216403 131216403 + Missense_Mutation SNP C A A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx 5be142d5-b6f7-4e1e-ae75-49b302b332a2 71a36569-7ec1-44fc-8a74-60291e49ec6b g.chrX:131216403C>A uc004ewn.2 - 9 1071 c.893G>T c.(892-894)AGT>ATT p.S298I FRMD7_uc011muy.1_Missense_Mutation_p.S283I NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 298 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATAGCGGAAACTGGAACCCTT 0.448