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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut NECAP2 55707 broad.mit.edu 37 1 16778419 16778419 + Silent SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:16778419A>T uc001ayo.2 + 6 666 c.576A>T c.(574-576)CCA>CCT p.P192P NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.P166P|NECAP2_uc001ayq.2_Silent_p.P192P NM_018090 NP_060560 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 isoform 1 192 P -> S (in Ref. 2; BAG63581). endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CCCCTCCCCCAGGGGGGAAAA 0.622 NA 30 68 0 0 0.007291 0 0 CRYZ 1429 broad.mit.edu 37 1 75175927 75175927 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:75175927C>T uc001dgk.2 - 7 990 c.485G>A c.(484-486)GGA>GAA p.G162E CRYZ_uc001dgj.2_Missense_Mutation_p.G162E|CRYZ_uc001dgl.2_Missense_Mutation_p.G162E|CRYZ_uc001dgm.2_Missense_Mutation_p.G25E NM_001130042 NP_001123514 Q08257 QOR_HUMAN crystallin, zeta isoform a 162 protein homotetramerization|visual perception|xenobiotic catabolic process cytosol|Golgi apparatus mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding 0 Dicumarol(DB00266) TGCTGCTAATCCAACCTGAAA 0.378 NA 20 41 0 0 0.008871 0 0 AK5 26289 broad.mit.edu 37 1 77759485 77759485 + Silent SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:77759485T>A uc001dhn.2 + 3 512 c.255T>A c.(253-255)CCT>CCA p.P85P AK5_uc001dho.2_Silent_p.P59P|AK5_uc001dhm.1_Intron NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 85 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 CAGTAATGCCTGAAAACTCAA 0.368 NA 22 40 0 0 0.001882 0 0 LPPR5 163404 broad.mit.edu 37 1 99387536 99387536 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:99387536C>G uc001dsb.2 - 4 922 c.700G>C c.(700-702)GCA>CCA p.A234P LPPR5_uc001dsc.2_Missense_Mutation_p.A234P NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 234 Helical; (Potential). integral to membrane hydrolase activity 0 GTAAGAAATGCCAAACACATT 0.383 NA 19 54 0 0 0.007413 0 0 COL11A1 1301 broad.mit.edu 37 1 103412505 103412505 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:103412505G>T uc001dul.2 - 42 3494 c.3176C>A c.(3175-3177)CCA>CAA p.P1059Q COL11A1_uc001duk.2_Missense_Mutation_p.P255Q|COL11A1_uc001dum.2_Missense_Mutation_p.P1071Q|COL11A1_uc001dun.2_Missense_Mutation_p.P1020Q|COL11A1_uc009weh.2_Missense_Mutation_p.P943Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1059 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACGTTCTCCTGGTGAGCCCTA 0.463 NA 10 15 4.68919e-08 5.48014e-08 0.008291 1 0 KCND3 3752 broad.mit.edu 37 1 112524989 112524989 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:112524989G>C uc001ebu.1 - 2 840 c.360C>G c.(358-360)TTC>TTG p.F120L KCND3_uc001ebv.1_Missense_Mutation_p.F120L NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 120 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGATGCCGTAGAAGGCCAGCT 0.627 NA 19 43 0 0 0.007413 0 0 HSD3B2 3284 broad.mit.edu 37 1 119985577 119985577 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:119985577G>A uc001ehu.2 + 4 526 c.384G>A c.(382-384)CAG>CAA p.Q128Q P26439 3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; EC=1.1.1.145; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; EC=5.3.3.1; AltName: Full=Delta-5-3-ketosteroid isomerase; Error:Variant_position_missing_in_P26439_after_alignment androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) GAGCCTGCCAGGACGTGTCGG 0.498 NA 16 31 0 0 0.004007 0 0 REG4 83998 broad.mit.edu 37 1 120351358 120351358 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:120351358A>T uc001eig.2 - 3 475 c.35T>A c.(34-36)CTG>CAG p.L12Q REG4_uc001eif.2_Missense_Mutation_p.L12Q|REG4_uc001eih.1_Missense_Mutation_p.L12Q NM_001159352 NP_001152824 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 12 extracellular region sugar binding ovary(1) 1 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) CAGGCAGCTCAGCAATAGGAG 0.532 NA OREG0013729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 36 0 0 0.004007 0 0 HCN3 57657 broad.mit.edu 37 1 155258202 155258202 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:155258202C>T uc001fjz.1 + 8 2281 c.2273C>T c.(2272-2274)CCA>CTA p.P758L RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.P453L NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 758 Cytoplasmic (Potential).|Pro-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCCAGGCCACCAGTGCCTGAG 0.602 NA 27 108 0 0 0.004656 0 0 LHX4 89884 broad.mit.edu 37 1 180235559 180235559 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:180235559A>T uc001goe.1 + 3 504 c.281A>T c.(280-282)CAG>CTG p.Q94L NM_033343 NP_203129 Q969G2 LHX4_HUMAN LIM homeobox protein 4 94 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GCCTGCCAGCAGGGTATCCCC 0.617 NA 5 122 0 0 0.000602 0 0 PTGS2 5743 broad.mit.edu 37 1 186645094 186645094 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:186645094G>A uc001gsb.2 - 8 1330 c.1193C>T c.(1192-1194)TCT>TTT p.S398F PTGS2_uc009wyo.2_Missense_Mutation_p.S245F NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 398 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) CAGCAATATAGAGTTGTTGTA 0.383 NA 7 134 0 0 0.001984 0 0 ASPM 259266 broad.mit.edu 37 1 197069621 197069621 + Silent SNP A A G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:197069621A>G uc001gtu.2 - 18 9017 c.8760T>C c.(8758-8760)AGT>AGC p.S2920S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Silent_p.S768S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2920 IQ 33. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAAATCCTTTACTTCTAGCTT 0.289 NA 19 49 0 0 0.006122 0 0 CYB5R1 51706 broad.mit.edu 37 1 202931772 202931772 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:202931772G>A uc001gyt.2 - 9 872 c.801C>T c.(799-801)CCC>CCT p.P267P NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 267 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) CCCCTGGAGCGGGCAGGTGTT 0.537 NA 4 87 0 0 0.009096 0 0 CR1 1378 broad.mit.edu 37 1 207782718 207782718 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:207782718G>T uc001hfy.2 + 29 4770 c.4630G>T c.(4630-4632)GTA>TTA p.V1544L CR1_uc009xcl.1_Missense_Mutation_p.V1094L|CR1_uc001hfx.2_Missense_Mutation_p.V1994L NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1544 Extracellular (Potential).|Sushi 24. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TGGAACGGTGGTAACTTACCA 0.448 NA 24 77 1.64293e-13 2.0969e-13 0.00333 1 0 USH2A 7399 broad.mit.edu 37 1 215824106 215824106 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:215824106C>G uc001hku.1 - 65 14558 c.14171G>C c.(14170-14172)AGC>ACC p.S4724T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4724 Fibronectin type-III 32.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCATGTCCAGCTACTGGGGGC 0.512 NA HNSCC(13;0.011) 56 127 0 0 0.00361 0 0 LYST 1130 broad.mit.edu 37 1 235937220 235937220 + Silent SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:235937220T>C uc001hxj.2 - 19 5881 c.5706A>G c.(5704-5706)GTA>GTG p.V1902V LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 1902 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CATTAGAGTCTACATCCAACT 0.328 NA Chediak-Higashsyndrome 33 79 0 0 0.003271 0 0 OR2L8 391190 broad.mit.edu 37 1 248112914 248112914 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:248112914C>A uc001idt.1 + 1 755 c.755C>A c.(754-756)GCA>GAA p.A252E OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTCTACTATGCACCTTTTGTC 0.478 NA 37 160 2.3623e-07 2.6958e-07 0.002522 1 0 OR14C36 127066 broad.mit.edu 37 1 248512689 248512689 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr1:248512689G>T uc010pzl.1 + 1 613 c.613G>T c.(613-615)GGT>TGT p.G205C NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCTGGGGGTAGGTGGCGGCTG 0.478 NA 28 103 1.39806e-14 1.82029e-14 0.008361 1 0 MCM10 55388 broad.mit.edu 37 10 13217680 13217680 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:13217680A>T uc001ima.2 + 6 867 c.766A>T c.(766-768)AGG>TGG p.R256W MCM10_uc001imb.2_Missense_Mutation_p.R255W|MCM10_uc001imc.2_Missense_Mutation_p.R255W NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 256 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TCTGCGGCTCAGGTCAGTAGC 0.493 NA 54 110 0 0 0.00361 0 0 BTAF1 9044 broad.mit.edu 37 10 93767940 93767940 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:93767940C>A uc001khr.2 + 26 3819 c.3721C>A c.(3721-3723)CGA>AGA p.R1241R NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1241 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) AGCCAAGGAGCGACACTTTTT 0.343 NA 46 86 4.10826e-27 5.94778e-27 0.00361 1 0 BTAF1 9044 broad.mit.edu 37 10 93767954 93767954 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:93767954G>C uc001khr.2 + 26 3833 c.3735G>C c.(3733-3735)GAG>GAC p.E1245D NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1245 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ACTTTTTGGAGCAATTGTTAG 0.338 NA 37 73 0 0 0.007835 0 0 HELLS 3070 broad.mit.edu 37 10 96341154 96341154 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:96341154G>A uc001kjt.2 + 11 1209 c.1104G>A c.(1102-1104)AGG>AGA p.R368R HELLS_uc001kjs.2_Silent_p.R352R|HELLS_uc009xul.2_Intron|HELLS_uc009xum.2_Intron|HELLS_uc009xun.2_Silent_p.R244R|HELLS_uc009xuo.2_Silent_p.R368R|HELLS_uc001kju.2_Silent_p.R7R|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Silent_p.R230R|HELLS_uc009xur.2_Intron NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 368 Helicase ATP-binding. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTAATCAGGGAGTTAAAAC 0.338 NA 23 31 0 0 0.002299 0 0 KNDC1 85442 broad.mit.edu 37 10 135003264 135003264 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:135003264G>A uc001llz.1 + 9 1523 c.1522G>A c.(1522-1524)GAC>AAC p.D508N KNDC1_uc001lma.1_Missense_Mutation_p.D443N NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 508 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGGTTCCTATGACTCGTTCTT 0.493 NA 10 28 0 0 0.008291 0 0 BRSK2 9024 broad.mit.edu 37 11 1464822 1464822 + Missense_Mutation SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:1464822T>C uc001lti.2 + 8 1123 c.737T>C c.(736-738)CTG>CCG p.L246P BRSK2_uc009ycv.1_Missense_Mutation_p.L246P|BRSK2_uc001lth.1_Missense_Mutation_p.L246P|BRSK2_uc001ltj.2_Missense_Mutation_p.L246P|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.L246P|BRSK2_uc001ltm.2_Missense_Mutation_p.L292P|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 246 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) TGCCAGAGTCTGCTACGGGGC 0.597 NA 7 8 0 0 0.006214 0 0 ZNF195 7748 broad.mit.edu 37 11 3380864 3380864 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:3380864C>G uc001lxt.2 - 6 1552 c.1374G>C c.(1372-1374)AGG>AGC p.R458S uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.R435S|ZNF195_uc001lxs.2_Missense_Mutation_p.R386S|ZNF195_uc010qxr.1_Missense_Mutation_p.R439S|ZNF195_uc009ydz.2_Missense_Mutation_p.R413S|ZNF195_uc001lxu.2_Missense_Mutation_p.R390S NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 458 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CGGTGTGAATCCTCCTGTGTT 0.423 NA 43 54 0 0 0.009718 0 0 OR51M1 390059 broad.mit.edu 37 11 5410885 5410885 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:5410885G>T uc010qzc.1 + 1 257 c.257G>T c.(256-258)TGT>TTT p.C86F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 86 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGGCTGTGTGTGTCCACG 0.473 NA 48 89 1.61863e-15 2.18065e-15 0.00361 1 0 RBMXL2 27288 broad.mit.edu 37 11 7111194 7111194 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:7111194G>T uc001mfc.2 + 1 1030 c.843G>T c.(841-843)GAG>GAT p.E281D NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 281 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CCCATCGAGAGCCCTTTGAGA 0.662 NA 16 23 6.31663e-08 7.25104e-08 0.003163 1 0 OR5A1 219982 broad.mit.edu 37 11 59210760 59210760 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:59210760C>A uc001nnx.1 + 1 119 c.119C>A c.(118-120)ACC>AAC p.T40N NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 ATCTATCTTACCACCCTGGCC 0.502 NA 53 96 2.31418e-15 3.09621e-15 0.00361 1 0 VWF 7450 broad.mit.edu 37 12 6103248 6103248 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:6103248G>C uc001qnn.1 - 37 6628 c.6378C>G c.(6376-6378)ATC>ATG p.I2126M VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2126 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GCTCCTCCAGGATGGGCTGGC 0.572 NA 28 39 0 0 0.004656 0 0 CD4 920 broad.mit.edu 37 12 6923458 6923458 + Missense_Mutation SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:6923458T>C uc001qqv.1 + 4 610 c.365T>C c.(364-366)GTG>GCG p.V122A CD4_uc009zez.1_Missense_Mutation_p.V67A|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_5'UTR|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 122 Extracellular (Potential).|Ig-like V-type. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) CAATTGCTAGTGTTCGGATGT 0.517 NA 24 30 0 0 0.00333 0 0 USP5 8078 broad.mit.edu 37 12 6972375 6972375 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:6972375G>A uc001qri.3 + 15 1847 c.1788G>A c.(1786-1788)GAG>GAA p.E596E USP5_uc001qrh.3_Silent_p.E596E NM_001098536 NP_001092006 P45974 UBP5_HUMAN ubiquitin specific peptidase 5 isoform 1 596 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process lysosome cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding lung(2)|breast(1)|skin(1) 4 TGCCAGAGGAGCTCGACATCT 0.612 NA 3 56 0 0 0.004672 0 0 CLEC4C 170482 broad.mit.edu 37 12 7894063 7894063 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:7894063C>A uc001qtg.1 - 3 363 c.189G>T c.(187-189)CAG>CAT p.Q63H CLEC4C_uc001qth.1_Missense_Mutation_p.Q63H|CLEC4C_uc001qti.1_Missense_Mutation_p.Q32H NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 63 Extracellular (Potential). innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TTGGATGATACTGTTGATACT 0.418 NA 33 72 9.45814e-24 1.33933e-23 0.004878 1 0 TAS2R19 259294 broad.mit.edu 37 12 11175134 11175134 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:11175134C>G uc010shj.1 - 1 37 c.37G>C c.(37-39)GTA>CTA p.V13L PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 13 Helical; Name=1; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 GCAAACACTACCAGAATTGAT 0.388 NA 18 50 0 0 0.001882 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54677000 54677000 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:54677000G>T uc001sfl.2 + 8 993 c.889G>T c.(889-891)GGC>TGC p.G297C HNRNPA1_uc001sfm.2_Intron|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Intron|HNRNPA1_uc009zni.2_Intron|HNRNPA1_uc001sfn.2_Intron|HNRNPA1_uc001sfo.3_Intron|HNRNPA1_uc009znj.1_Intron NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 297 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 AGGCGGAGGCGGCTTTGGCGG 0.527 Colon(83;502 1289 8436 16406 24870) NA 8 18 0.000157383 0.000170572 0.00308 1 0 APAF1 317 broad.mit.edu 37 12 99076942 99076942 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:99076942G>A uc001tfz.2 + 15 2645 c.2068G>A c.(2068-2070)GAA>AAA p.E690K APAF1_uc001tfy.2_Missense_Mutation_p.E679K|APAF1_uc001tga.2_Missense_Mutation_p.E679K|APAF1_uc001tgb.2_Missense_Mutation_p.E690K|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.E99K NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 690 WD 2. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TATGACTGGGGAACTAGTACA 0.403 NA 36 47 0 0 0.003271 0 0 GIT2 9815 broad.mit.edu 37 12 110370853 110370853 + Missense_Mutation SNP T T C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:110370853T>C uc001tps.2 - 20 2375 c.2210A>G c.(2209-2211)CAG>CGG p.Q737R TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Missense_Mutation_p.Q707R|GIT2_uc001tpv.2_Missense_Mutation_p.Q659R|GIT2_uc001tpu.2_Missense_Mutation_p.Q657R|GIT2_uc001tpt.2_Missense_Mutation_p.Q609R|GIT2_uc010sxu.1_Missense_Mutation_p.Q645R NM_057169 NP_476510 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting 737 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding central_nervous_system(1) 1 GTACGCACACTGGATGACCTG 0.433 NA 13 30 0 0 0.001855 0 0 AACS 65985 broad.mit.edu 37 12 125621282 125621282 + Missense_Mutation SNP C C G rs141114409 TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:125621282C>G uc001uhc.2 + 17 1959 c.1753C>G c.(1753-1755)CTC>GTC p.L585V AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.L183V NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 585 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GAGGGTGATCCTCTTCCTGAA 0.592 NA 21 48 0 0 0.002299 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847575 130847575 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:130847575C>A uc001uik.2 + 18 2171 c.2081C>A c.(2080-2082)CCC>CAC p.P694H PIWIL1_uc001uij.1_Missense_Mutation_p.P694H NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 694 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAGTACATGCCCAGCCGGATC 0.488 NA 29 70 6.38683e-12 8.04575e-12 0.008361 1 0 LECT1 11061 broad.mit.edu 37 13 53286940 53286940 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr13:53286940G>T uc001vhf.2 - 5 644 c.533C>A c.(532-534)CCT>CAT p.P178H LECT1_uc001vhg.2_Missense_Mutation_p.P178H|LECT1_uc001vhh.2_Missense_Mutation_p.P167H NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 178 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) GTCCTTCACAGGCTGATCTAC 0.403 NA 41 88 9.62906e-15 1.26219e-14 0.00623 1 0 SMOC1 64093 broad.mit.edu 37 14 70418906 70418906 + Nonsense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr14:70418906C>T uc001xls.1 + 2 404 c.151C>T c.(151-153)CAA>TAA p.Q51* SMOC1_uc001xlt.1_Nonsense_Mutation_p.Q51* NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 51 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CTCCAGGACTCAACCCAAACC 0.527 NA 44 74 0 0 0.002522 0 0 C14orf115 55237 broad.mit.edu 37 14 74824076 74824076 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr14:74824076A>T uc001xpw.3 + 2 781 c.590A>T c.(589-591)AAG>ATG p.K197M NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 197 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) CGCAACCTCAAGATCCGGCCC 0.622 NA 33 58 0 0 0.002096 0 0 GALC 2581 broad.mit.edu 37 14 88417089 88417089 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr14:88417089G>A uc001xvt.2 - 11 1564 c.1165C>T c.(1165-1167)CAT>TAT p.H389Y GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.H363Y|GALC_uc010tvy.1_Missense_Mutation_p.H366Y|GALC_uc010tvz.1_Missense_Mutation_p.H333Y NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 389 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 GAATGTTTATGACTCTGAAAA 0.313 NA 13 23 0 0 0.001368 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408344 105408344 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr14:105408344T>A uc010axc.1 - 7 13564 c.13444A>T c.(13444-13446)ATC>TTC p.I4482F AHNAK2_uc001ypx.2_Missense_Mutation_p.I4382F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4482 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGACCTCGATGGACTTGCCT 0.562 NA 109 193 0 0 0.00361 0 0 MNS1 55329 broad.mit.edu 37 15 56726471 56726471 + Silent SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:56726471A>T uc002adr.2 - 8 1299 c.1134T>A c.(1132-1134)ACT>ACA p.T378T MNS1_uc010bfo.2_Silent_p.T246T|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 378 Potential. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TAGCTAGCATAGTTTTTCTAA 0.383 NA 48 89 0 0 0.00361 0 0 MAN2C1 4123 broad.mit.edu 37 15 75655060 75655060 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:75655060T>A uc002baf.2 - 7 837 c.820A>T c.(820-822)AGG>TGG p.R274W MAN2C1_uc002bag.2_Missense_Mutation_p.R274W|MAN2C1_uc002bah.2_Missense_Mutation_p.R274W|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.R56W|MAN2C1_uc010umj.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 274 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 GCACATTTCCTCACAGTCTCT 0.617 NA 11 25 0 0 0.001368 0 0 Unknown 0 broad.mit.edu 37 15 76074431 76074431 + Missense_Mutation SNP C C T rs149323153 by1000genomes TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:76074431C>T uc010umm.1 + 8 610 c.533C>T c.(532-534)TCG>TTG p.S178L uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; NA CTCCAGTCCTCGAGCTGCAGA 0.547 NA 8 43 0 0 0.008291 0 0 AKAP13 11214 broad.mit.edu 37 15 86262350 86262350 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:86262350C>T uc002blv.1 + 23 6215 c.6045C>T c.(6043-6045)ATC>ATT p.I2015I AKAP13_uc002blu.1_Silent_p.I2019I|AKAP13_uc010bnf.1_Silent_p.I636I|AKAP13_uc002blw.1_Silent_p.I480I|AKAP13_uc002blx.1_Silent_p.I260I NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2015 Interaction with ESR1.|DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CTCTCAAGATCATGAGTGGTG 0.463 Melanoma(94;603 1453 3280 32295 32951) NA 18 67 0 0 0.006122 0 0 AP3S2 10239 broad.mit.edu 37 15 90378752 90378752 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:90378752C>T uc002boq.3 - 6 1013 c.577G>A c.(577-579)GTC>ATC p.V193I AP3S2_uc002bos.3_Missense_Mutation_p.V394I|AP3S2_uc010bns.2_RNA|AP3S2_uc002bor.3_RNA|AP3S2_uc010bnt.2_RNA NM_005829 NP_005820 P59780 AP3S2_HUMAN adaptor-related protein complex 3, sigma 2 193 intracellular protein transport|vesicle-mediated transport cytoplasmic vesicle membrane|Golgi apparatus|membrane coat protein transporter activity 0 Lung NSC(78;0.0181)|all_lung(78;0.0384) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223) GATCCTCAGACAAACTGGGAC 0.468 NA 64 129 0 0 0.00361 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100636675 100636675 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr15:100636675C>T uc002bvv.1 - 15 2102 c.2023G>A c.(2023-2025)GGC>AGC p.G675S ADAMTS17_uc002bvx.1_Missense_Mutation_p.G432S NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 675 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCGTCACAGCCGATTTTCTAA 0.542 NA 52 106 0 0 0.00361 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28970370 28970370 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr16:28970370C>A uc002dru.2 + 7 1065 c.1050C>A c.(1048-1050)CTC>CTA p.L350L uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.L71L|NFATC2IP_uc002drv.2_Silent_p.L69L|NFATC2IP_uc010vdh.1_Silent_p.L58L NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 350 Ubiquitin-like. cytoplasm|nucleus ovary(1) 1 AGCTCCAGCTCCGGGTGCAGG 0.587 NA 21 34 1.22574e-08 1.44996e-08 0.002299 1 0 TGFB1I1 7041 broad.mit.edu 37 16 31485720 31485720 + Missense_Mutation SNP A A G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr16:31485720A>G uc002ecd.1 + 6 489 c.463A>G c.(463-465)ACT>GCT p.T155A TGFB1I1_uc002ece.1_Missense_Mutation_p.T138A|TGFB1I1_uc010caq.1_5'UTR NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 155 Transcription activation (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CACCTCAGCCACTCTGGAGCT 0.582 NA 28 42 0 0 0.007291 0 0 CALB2 794 broad.mit.edu 37 16 71411645 71411645 + Missense_Mutation SNP A A G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr16:71411645A>G uc002faa.3 + 4 407 c.337A>G c.(337-339)ATG>GTG p.M113V CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.M113V NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 113 EF-hand 3. calcium ion binding 0 Ovarian(137;0.125) CGCCGAGTTTATGGAGGTGAG 0.582 NA 18 26 0 0 0.006122 0 0 USP6 9098 broad.mit.edu 37 17 5048007 5048007 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:5048007C>T uc002gau.1 + 26 4071 c.1841C>T c.(1840-1842)CCC>CTC p.P614L USP6_uc002gav.1_Missense_Mutation_p.P614L|USP6_uc010ckz.1_Missense_Mutation_p.P297L NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 614 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 AAATATGCTCCCAAGTTTGAT 0.388 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 48 74 0 0 0.00361 0 0 GLP2R 9340 broad.mit.edu 37 17 9774129 9774129 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:9774129G>C uc002gmd.1 + 10 1122 c.1122G>C c.(1120-1122)ATG>ATC p.M374I NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 374 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) CTCATCAAATGTGCTTCAGAG 0.413 NA 64 106 0 0 0.00361 0 0 NCOR1 9611 broad.mit.edu 37 17 15950288 15950288 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:15950288G>C uc002gpo.2 - 42 6896 c.6656C>G c.(6655-6657)TCT>TGT p.S2219C NCOR1_uc002gpn.2_Missense_Mutation_p.S2116C|NCOR1_uc002gpl.2_Missense_Mutation_p.S234C|NCOR1_uc002gpm.2_Missense_Mutation_p.S739C|NCOR1_uc010vwb.1_Missense_Mutation_p.S803C|NCOR1_uc010coy.2_Missense_Mutation_p.S1127C|NCOR1_uc010vwc.1_Missense_Mutation_p.S1029C NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2219 Interaction with C1D (By similarity).|ID2 (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ACCTCCACCAGAGGAGTTCAA 0.398 NA 6 91 0 0 0.001168 0 0 FLCN 201163 broad.mit.edu 37 17 17119768 17119768 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:17119768T>A uc002gra.3 - 11 1730 c.1226A>T c.(1225-1227)TAC>TTC p.Y409F PLD6_uc010cpn.2_RNA NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 409 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 GGCCTCCTCGTACTGGCTGCT 0.667 NA Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 10 18 0 0 0.006214 0 0 SEZ6 124925 broad.mit.edu 37 17 27287897 27287897 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:27287897C>A uc002hdp.2 - 6 1529 c.1335G>T c.(1333-1335)TGG>TGT p.W445C SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.W445C|SEZ6_uc002hdq.1_Missense_Mutation_p.W320C NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 445 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CCTCAAGCAGCCAGTGACAGG 0.602 NA 44 125 5.34276e-22 7.45679e-22 0.00361 1 0 TMEM132E 124842 broad.mit.edu 37 17 32957120 32957120 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:32957120G>T uc002hif.2 + 6 1490 c.1162G>T c.(1162-1164)GAC>TAC p.D388Y NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 388 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CCTCGTCCTGGACATCTCCGC 0.582 NA 6 38 8.12818e-05 8.90886e-05 0.001984 1 0 CASC3 22794 broad.mit.edu 37 17 38319155 38319155 + Splice_Site SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:38319155G>T uc010cwt.1 + 6 1080 c.785_splice c.e6+1 p.R262_splice CASC3_uc010cws.1_Splice_Site_p.R262_splice|CASC3_uc002hue.2_Splice_Site_p.R262_splice NM_007359 NP_031385 O15234 CASC3_HUMAN metastatic lymph node 51 mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding ovary(1) 1 GGAAACCCCGGTGAGGACATT 0.348 NA 25 38 4.72057e-08 5.48378e-08 0.003954 1 0 C17orf53 78995 broad.mit.edu 37 17 42230076 42230076 + Silent SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:42230076G>T uc002ifi.1 + 5 1565 c.1380G>T c.(1378-1380)ACG>ACT p.T460T C17orf53_uc010czq.1_Silent_p.T460T|C17orf53_uc002ifj.1_Intron|C17orf53_uc002ifk.1_Intron NM_024032 NP_076937 Q8N3J3 CQ053_HUMAN hypothetical protein LOC78995 460 0 Breast(137;0.0364)|Prostate(33;0.0376) BRCA - Breast invasive adenocarcinoma(366;0.114) TGAAATCCACGCTAGGCCTGG 0.562 NA 40 54 4.01765e-15 5.30221e-15 0.009718 1 0 MMD 23531 broad.mit.edu 37 17 53485141 53485141 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:53485141T>A uc002iui.2 - 4 595 c.310A>T c.(310-312)ATC>TTC p.I104F NM_012329 NP_036461 Q15546 PAQRB_HUMAN monocyte to macrophage 104 Helical; (Potential). cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity 0 AAGAAATAGATAACCATTCTA 0.383 NA 20 33 0 0 0.005443 0 0 VEZF1 7716 broad.mit.edu 37 17 56060517 56060517 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:56060517G>A uc002ivf.1 - 2 414 c.271C>T c.(271-273)CGC>TGC p.R91C VEZF1_uc010dcn.1_5'UTR NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 91 C2H2-type 1. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 GATTCGTGGCGCCTCAGGTGA 0.493 NA 10 109 0 0 0.006214 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74622818 74622818 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr17:74622818G>A uc002jsh.2 - 5 1400 c.1226C>T c.(1225-1227)TCC>TTC p.S409F ST6GALNAC1_uc002jsi.2_Missense_Mutation_p.S277F|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 409 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 GCCGTAGAAGGATGTCCGAGT 0.527 NA 126 249 0 0 0.00361 0 0 EMILIN2 84034 broad.mit.edu 37 18 2847877 2847877 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr18:2847877C>A uc002kln.2 + 2 364 c.205C>A c.(205-207)CAG>AAG p.Q69K NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 69 EMI. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) GAGTTTTATTCAGGCTCAGTA 0.473 NA 16 37 3.32936e-07 3.77717e-07 0.006122 1 0 MYOM1 8736 broad.mit.edu 37 18 3089175 3089175 + Nonsense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr18:3089175G>T uc002klp.2 - 29 4468 c.4134C>A c.(4132-4134)TGC>TGA p.C1378* MYOM1_uc002klq.2_Nonsense_Mutation_p.C1282* NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1378 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 CTCTTACCTTGCATTTCAATA 0.318 NA 9 24 0.00829132 0.00864793 0.008291 1 0 DSG2 1829 broad.mit.edu 37 18 29125825 29125825 + Missense_Mutation SNP T T G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr18:29125825T>G uc002kwu.3 + 15 2664 c.2476T>G c.(2476-2478)TTA>GTA p.L826V uc002kwv.3_RNA NM_001943 NP_001934 Q14126 DSG2_HUMAN desmoglein 2 preproprotein 826 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(2)|breast(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TGACCGCTTCTTAGATGATTT 0.383 NA 10 98 0 0 0.008291 0 0 LINGO3 645191 broad.mit.edu 37 19 2290056 2290056 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:2290056C>A uc010dsx.1 - 2 1848 c.1720G>T c.(1720-1722)GGG>TGG p.G574W SPPL2B_uc010dsw.1_Intron|uc002lvo.1_5'UTR NM_001101391 NP_001094861 P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 574 Cytoplasmic (Potential). integral to membrane 0 gcggccggcccATCCACCTTG 0.572 NA 4 4 0.000602214 0.000641921 0.000602 1 0 PNPLA6 10908 broad.mit.edu 37 19 7620649 7620649 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:7620649G>C uc010xjq.1 + 26 3318 c.3123G>C c.(3121-3123)AAG>AAC p.K1041N PNPLA6_uc002mgq.1_Missense_Mutation_p.K993N|PNPLA6_uc010xjp.1_Missense_Mutation_p.K966N|PNPLA6_uc002mgr.1_Missense_Mutation_p.K993N|PNPLA6_uc002mgs.2_Missense_Mutation_p.K1031N|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1032 Patatin.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 AGTGGGCCAAGGTGTGTGTTG 0.652 NA 18 35 0 0 0.010504 0 0 PNPLA6 10908 broad.mit.edu 37 19 7622093 7622093 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:7622093C>T uc010xjq.1 + 29 3545 c.3350C>T c.(3349-3351)TCG>TTG p.S1117L PNPLA6_uc002mgq.1_Missense_Mutation_p.S1069L|PNPLA6_uc010xjp.1_Missense_Mutation_p.S1042L|PNPLA6_uc002mgr.1_Missense_Mutation_p.S1069L|PNPLA6_uc002mgs.2_Missense_Mutation_p.S1107L|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1108 Patatin.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 ATGACGCTGTCGGGCTACCTG 0.672 NA 16 48 0 0 0.004007 0 0 ILF3 3609 broad.mit.edu 37 19 10782177 10782177 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:10782177A>T uc002mpn.2 + 4 694 c.377A>T c.(376-378)GAC>GTC p.D126V ILF3_uc002mpm.2_Missense_Mutation_p.D126V|ILF3_uc002mpl.2_Missense_Mutation_p.D126V|ILF3_uc002mpk.2_Missense_Mutation_p.D126V|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.D126V NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 126 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) GCCCTCCTGGACAAGGTGGCC 0.622 NA 3 49 0 0 0.004672 0 0 LDLR 3949 broad.mit.edu 37 19 11238726 11238726 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:11238726G>T uc002mqk.3 + 16 2522 c.2354G>T c.(2353-2355)AGT>ATT p.S785I LDLR_uc010xlk.1_Missense_Mutation_p.S785I|LDLR_uc010xll.1_Missense_Mutation_p.S744I|LDLR_uc010xlm.1_Missense_Mutation_p.S638I|LDLR_uc010xln.1_Missense_Mutation_p.S607I|LDLR_uc010xlo.1_Missense_Mutation_p.S617I|LDLR_uc010dxu.2_5'UTR NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 785 Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) AAGAAGCCCAGTAGCGTGAGG 0.612 GBM(18;201 575 7820 21545) NA 40 58 4.17593e-13 5.29498e-13 0.007835 1 0 MAST3 23031 broad.mit.edu 37 19 18255920 18255920 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:18255920G>T uc002nhz.3 + 23 2833 c.2833G>T c.(2833-2835)GGC>TGC p.G945C NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 945 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 CCCCGTGTGTGGCAGCCTGCG 0.667 NA 59 82 6.3091e-27 9.06641e-27 0.00361 1 0 RYR1 6261 broad.mit.edu 37 19 38939306 38939306 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:38939306C>A uc002oit.2 + 11 1105 c.975C>A c.(973-975)GCC>GCA p.A325A RYR1_uc002oiu.2_Silent_p.A325A NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 325 MIR 4.|Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGGATGTGGCCCCCAAGCGGG 0.632 NA 7 85 0.00198382 0.00209163 0.001984 1 0 AXL 558 broad.mit.edu 37 19 41765648 41765648 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:41765648C>G uc010ehj.2 + 20 2714 c.2524C>G c.(2524-2526)CCC>GCC p.P842A CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.P833A|HNRNPUL1_uc010ehl.1_5'Flank NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 842 Cytoplasmic (Potential). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 AGGAGCTGACCCCCCAACCCA 0.602 NA 3 62 0 0 0.004672 0 0 VN1R4 317703 broad.mit.edu 37 19 53770687 53770687 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:53770687G>T uc010ydu.1 - 1 232 c.232C>A c.(232-234)CTT>ATT p.L78I NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 78 Extracellular (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) TTGCACCCAAGAGCATTGAGA 0.493 NA HNSCC(26;0.072) 20 37 1.96292e-10 2.39501e-10 0.010504 1 0 CACNG7 59284 broad.mit.edu 37 19 54416105 54416105 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:54416105G>T uc002qcr.1 + 1 35 c.20G>T c.(19-21)CGC>CTC p.R7L CACNG7_uc010era.1_Missense_Mutation_p.R7L NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 7 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TGCAGCAGCCGCGCCCTGACC 0.632 NA 25 49 7.01153e-11 8.66393e-11 0.007291 1 0 LILRA6 79168 broad.mit.edu 37 19 54742891 54742891 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:54742891C>A uc002qeu.1 - 8 1508 c.1384G>T c.(1384-1386)GGG>TGG p.G462W LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G306W NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 462 Helical; (Potential). integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AACAGAATCCCGAGGAACACC 0.577 NA 20 93 2.39556e-15 3.18315e-15 0.00278 1 0 NLRP5 126206 broad.mit.edu 37 19 56539033 56539033 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:56539033C>T uc002qmj.2 + 7 1434 c.1434C>T c.(1432-1434)TGC>TGT p.C478C NLRP5_uc002qmi.2_Silent_p.C459C NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 478 NACHT. mitochondrion|nucleolus ATP binding p.C478C(1) ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CTCTCATCTGCGTGGCCCTGC 0.617 NA 9 25 0 0 0.006214 0 0 ZNF835 90485 broad.mit.edu 37 19 57184245 57184245 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:57184245A>T uc010ygo.1 - 1 2 c.2T>A c.(1-3)ATG>AAG p.M1K ZNF835_uc010ygn.1_5'Flank NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 AGAAAAAGACATCATTCTGGA 0.468 NA 13 24 0 0 0.001855 0 0 PEG3 5178 broad.mit.edu 37 19 57327218 57327218 + Nonsense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:57327218A>T uc002qnu.2 - 7 2943 c.2592T>A c.(2590-2592)TAT>TAA p.Y864* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Y835*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y864*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y740*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y738*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y864* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 864 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTCTGAGATATAAATGGAGG 0.428 NA 31 64 0 0 0.002836 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565111 58565111 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:58565111T>A uc002qrc.1 + 6 1166 c.919T>A c.(919-921)TTC>ATC p.F307I NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 307 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGTCACCCACTTCATCGAGCA 0.632 NA 24 56 0 0 0.00278 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596165 58596165 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:58596165C>A uc002qri.2 - 7 1729 c.1420G>T c.(1420-1422)GCC>TCC p.A474S ZSCAN18_uc002qrj.3_Missense_Mutation_p.A473S|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A338S|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A474S|ZSCAN18_uc010yht.1_Missense_Mutation_p.A530S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 474 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGGCCCCGGGCGCCCCCCAGC 0.716 NA 3 6 0.004672 0.00489929 0.004672 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58596514 58596514 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:58596514C>A uc002qri.2 - 7 1380 c.1071G>T c.(1069-1071)CAG>CAT p.Q357H ZSCAN18_uc002qrj.3_Missense_Mutation_p.Q356H|ZSCAN18_uc010yhs.1_Missense_Mutation_p.Q221H|ZSCAN18_uc002qrh.2_Missense_Mutation_p.Q357H|ZSCAN18_uc010yht.1_Missense_Mutation_p.Q413H|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 357 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCGGGGCAGGCTGCTGGATGA 0.701 NA 9 16 7.03913e-09 8.42957e-09 0.001368 1 0 KCNF1 3754 broad.mit.edu 37 2 11053919 11053919 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:11053919C>A uc002rax.2 + 1 1857 c.1367C>A c.(1366-1368)CCT>CAT p.P456H NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 456 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CCTCCAGAGCCTGCGGGGAAG 0.677 NA 13 24 3.27435e-08 3.84984e-08 0.00245 1 0 C2orf16 84226 broad.mit.edu 37 2 27802438 27802438 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:27802438C>T uc002rkz.3 + 1 3050 c.2999C>T c.(2998-3000)ACA>ATA p.T1000I NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1000 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ATAAAGAAGACAAACTCAACG 0.443 NA 21 55 0 0 0.001882 0 0 XDH 7498 broad.mit.edu 37 2 31621491 31621491 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:31621491C>A uc002rnv.1 - 5 460 c.381G>T c.(379-381)CTG>CTT p.L127L NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 127 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GATTCCGGAGCAGTGTGTACA 0.547 Colon(66;682 1445 30109 40147) NA 51 91 2.81731e-22 3.96056e-22 0.00361 1 0 FSHR 2492 broad.mit.edu 37 2 49217720 49217720 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:49217720A>T uc002rww.2 - 5 505 c.431T>A c.(430-432)CTC>CAC p.L144H FSHR_uc002rwx.2_Missense_Mutation_p.L144H|FSHR_uc010fbn.2_Missense_Mutation_p.L144H|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 144 LRR 5.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AACTTTTTGGAGAGAATGAAT 0.383 NA Gonadal_Dysgenesis_46_XX 29 67 0 0 0.007291 0 0 SNRNP200 23020 broad.mit.edu 37 2 96949346 96949346 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:96949346G>A uc002svu.2 - 33 4776 c.4690C>T c.(4690-4692)CCG>TCG p.P1564S SNRNP200_uc002svt.2_Missense_Mutation_p.P174S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.P91S NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1564 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TTGCGAGACGGCACAAAGACA 0.582 NA 5 135 0 0 0.000602 0 0 SMPD4 55627 broad.mit.edu 37 2 130912768 130912768 + Missense_Mutation SNP C C G rs138491461 TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:130912768C>G uc002tqq.1 - 15 1991 c.1471G>C c.(1471-1473)GCG>CCG p.A491P SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.A230P|SMPD4_uc010yzy.1_Missense_Mutation_p.A240P|SMPD4_uc010yzz.1_Missense_Mutation_p.A155P|SMPD4_uc002tqr.1_Missense_Mutation_p.A462P|SMPD4_uc002tqs.1_Missense_Mutation_p.A359P|SMPD4_uc002tqt.1_Missense_Mutation_p.A340P|SMPD4_uc010zaa.1_Missense_Mutation_p.A349P|SMPD4_uc010zab.1_Missense_Mutation_p.A389P|SMPD4_uc010zac.1_Missense_Mutation_p.A232P|SMPD4_uc010zad.1_Missense_Mutation_p.A127P NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 452 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GTGCGGAGCGCGCGGTTCAGA 0.602 NA 17 43 0 0 0.004007 0 0 THSD7B 80731 broad.mit.edu 37 2 138163263 138163263 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:138163263G>T uc002tva.1 + 12 2488 c.2488G>T c.(2488-2490)GTG>TTG p.V830L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.V720L NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GCCTCTCCTTGTGCAAGAATG 0.493 NA 10 36 0.000442599 0.000474388 0.006214 1 0 CRYGC 1420 broad.mit.edu 37 2 208994322 208994322 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:208994322C>A uc002vco.3 - 2 133 c.95G>T c.(94-96)CGC>CTC p.R32L NM_020989 NP_066269 P07315 CRGC_HUMAN crystallin, gamma C 32 Beta/gamma crystallin 'Greek key' 1. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GGAGTTGCAGCGGCTGAAATA 0.582 NA 59 113 2.08403e-16 2.82728e-16 0.00361 1 0 DES 1674 broad.mit.edu 37 2 220285261 220285261 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr2:220285261G>A uc002vll.2 + 4 866 c.780G>A c.(778-780)CAG>CAA p.Q260Q NM_001927 NP_001918 P17661 DESM_HUMAN desmin 260 Rod.|Linker 12. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton central_nervous_system(2) 2 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) AGCAGGTCCAGGTGGAGATGG 0.582 NA 20 23 0 0 0.008871 0 0 SIRPB1 10326 broad.mit.edu 37 20 1600516 1600516 + Silent SNP T T G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr20:1600516T>G uc010gai.2 - 1 174 c.75A>C c.(73-75)ACA>ACC p.T25T SIRPB1_uc002wfk.3_Silent_p.T25T|SIRPB1_uc002wfl.3_Silent_p.T25T NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 25 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 AGTGCTCACCTGTGAGTCTCC 0.567 NA 25 69 0 0 0.005443 0 0 EIF6 3692 broad.mit.edu 37 20 33867858 33867858 + Nonsense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr20:33867858G>A uc002xbv.1 - 4 649 c.433C>T c.(433-435)CAG>TAG p.Q145* EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Nonsense_Mutation_p.Q145*|EIF6_uc002xbz.1_Nonsense_Mutation_p.Q126*|EIF6_uc002xby.1_RNA NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 145 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACTAGCACCTGGTCGGCCACT 0.488 NA 220 85 0 0 0.00361 0 0 TCFL5 10732 broad.mit.edu 37 20 61488943 61488943 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr20:61488943G>A uc002ydp.2 - 4 1135 c.1042C>T c.(1042-1044)CGT>TGT p.R348C TCFL5_uc002ydo.2_Missense_Mutation_p.R121C|TCFL5_uc002ydq.2_Missense_Mutation_p.R347C NM_006602 NP_006593 Q9UL49 TCFL5_HUMAN transcription factor-like 5 protein 348 R3 epitope (recognized by Chagas's antibodies). cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1) 1 Breast(26;5.68e-08) TCCAACTGACGCATTCTACTC 0.463 NA 40 278 0 0 0.007835 0 0 MYT1 4661 broad.mit.edu 37 20 62831276 62831276 + Splice_Site SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr20:62831276G>T uc002yii.2 + 4 450 c.86_splice c.e4+1 p.S29_splice MYT1_uc002yih.2_Splice_Site_p.S29_splice NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CAGACCTCAGGTAAGGAAGTC 0.483 GBM(59;481 1041 20555 21139 33705) NA 39 478 7.66079e-34 1.16109e-33 0.002522 1 0 POTED 317754 broad.mit.edu 37 21 15013702 15013702 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr21:15013702C>A uc002yjb.1 + 11 1622 c.1570C>A c.(1570-1572)CGT>AGT p.R524S NM_174981 NP_778146 Q86YR6 POTED_HUMAN pote protein 524 Potential. plasma membrane ovary(3)|skin(3) 6 AGATCTCTTGCGTGAAAACAG 0.353 NA 14 15 1.5739e-10 1.93251e-10 0.004007 1 0 CLDN8 9073 broad.mit.edu 37 21 31587992 31587992 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr21:31587992C>A uc002ynu.1 - 1 327 c.252G>T c.(250-252)ATG>ATT p.M84I NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 84 Helical; (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 AAGCAGCACACATCAGTCCTC 0.527 NA 31 53 1.21669e-08 1.44809e-08 0.003271 1 0 OR11H1 81061 broad.mit.edu 37 22 16449114 16449114 + Nonsense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr22:16449114C>A uc011agd.1 - 1 691 c.691G>T c.(691-693)GGA>TGA p.G231* NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 231 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GTATAGGATCCAATAATAAAG 0.428 NA 54 142 2.2129e-31 3.30233e-31 0.00361 1 0 SH3BP1 23616 broad.mit.edu 37 22 38046679 38046679 + Silent SNP G G T rs139958398 byFrequency TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr22:38046679G>T uc003ati.2 + 16 1656 c.1545G>T c.(1543-1545)CCG>CCT p.P515P SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_3'UTR|SH3BP1_uc003ath.1_Silent_p.P515P|SH3BP1_uc003atj.1_Silent_p.P451P|SH3BP1_uc003atk.1_Silent_p.P429P|uc003atl.1_RNA NM_018957 NP_061830 Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 515 signal transduction cytoplasm GTPase activator activity|SH3 domain binding central_nervous_system(1) 1 Melanoma(58;0.0574) ctccggctccggctccagctc 0.413 NA 22 29 2.52088e-20 3.49322e-20 0.00278 1 0 ATP2B2 491 broad.mit.edu 37 3 10443877 10443877 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:10443877G>A uc003bvt.2 - 4 992 c.553C>T c.(553-555)CGC>TGC p.R185C ATP2B2_uc003bvv.2_Missense_Mutation_p.R185C|ATP2B2_uc003bvw.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R185C|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 185 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 TGCTCGATGCGGCTCTGCAGG 0.577 Ovarian(125;1619 1709 15675 19819 38835) NA 7 228 0 0 0.004482 0 0 SLC6A1 6529 broad.mit.edu 37 3 11059634 11059634 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:11059634T>A uc010hdq.2 + 4 755 c.344T>A c.(343-345)GTA>GAA p.V115E NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 115 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GGGCTAGGGGTATGGAAGCTG 0.597 NA 42 94 0 0 0.002852 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33870389 33870389 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:33870389C>T uc003cfx.2 + 7 917 c.762C>T c.(760-762)GCC>GCT p.A254A PDCD6IP_uc003cfy.2_Silent_p.A259A|PDCD6IP_uc011axw.1_Silent_p.A35A NM_013374 NP_037506 Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 254 Interaction with EIAV p9.|Interaction with CHMP4A, CHMP4B and CHMP4C.|BRO1. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding ovary(1)|skin(1) 2 TCATGCAGGCCAATGCTGAGT 0.438 NA 36 76 0 0 0.002836 0 0 SCN5A 6331 broad.mit.edu 37 3 38616901 38616901 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:38616901G>T uc003cio.2 - 20 3747 c.3553C>A c.(3553-3555)CAG>AAG p.Q1185K SCN5A_uc003cin.2_Missense_Mutation_p.Q1184K|SCN5A_uc003cil.3_Missense_Mutation_p.Q1185K|SCN5A_uc010hhi.2_Missense_Mutation_p.Q1185K|SCN5A_uc010hhk.2_Missense_Mutation_p.Q1184K|SCN5A_uc011ayr.1_Missense_Mutation_p.Q1131K|SCN5A_uc010hhj.1_Missense_Mutation_p.Q795K NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1185 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CCTGGGGCCTGTGTGGTGTCC 0.592 NA 9 9 7.48243e-07 8.43948e-07 0.006214 1 0 KBTBD8 84541 broad.mit.edu 37 3 67058585 67058585 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:67058585G>T uc003dmy.2 + 4 1635 c.1582G>T c.(1582-1584)GTA>TTA p.V528L KBTBD8_uc011bfv.1_Missense_Mutation_p.V86L NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN T-cell activation kelch repeat protein 528 Kelch 4. ovary(2)|large_intestine(1)|breast(1) 4 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) CCTTAAACTGGTACTTTTCCA 0.363 NA 47 60 2.64894e-19 3.64464e-19 0.00361 1 0 VGLL3 389136 broad.mit.edu 37 3 87017927 87017927 + Silent SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:87017927A>T uc003dqn.2 - 3 1114 c.750T>A c.(748-750)CCT>CCA p.P250P NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGAGCCAGCAGGAGggtggt 0.468 NA 21 32 0 0 0.010504 0 0 EVC 2121 broad.mit.edu 37 4 5800495 5800495 + Silent SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr4:5800495G>T uc003gil.1 + 15 2464 c.2280G>T c.(2278-2280)CGG>CGT p.R760R EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 760 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCAAGAGCCGGGCCAAGGACA 0.577 NA 5 15 0.00198382 0.00209163 0.001984 1 0 NSUN7 79730 broad.mit.edu 37 4 40810420 40810420 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr4:40810420C>T uc003gvj.3 + 12 2116 c.1621C>T c.(1621-1623)CGG>TGG p.R541W NSUN7_uc003gvi.3_3'UTR NM_024677 NP_078953 NOL1/NOP2/Sun domain family, member 7 0 ATCATCAAAACGGGAGAAGAA 0.448 NA 3 43 0 0 0.009096 0 0 GABRG1 2565 broad.mit.edu 37 4 46099217 46099217 + Splice_Site SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr4:46099217C>T uc003gxb.2 - 2 405 c.253_splice c.e2+1 p.V85_splice NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTCAAGCTTACCTCCTATATC 0.353 NA 27 46 0 0 0.005443 0 0 ASB5 140458 broad.mit.edu 37 4 177143562 177143562 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr4:177143562C>G uc003iuq.1 - 3 302 c.286G>C c.(286-288)GTA>CTA p.V96L ASB5_uc003iup.1_Missense_Mutation_p.V43L NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 96 ANK 1. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ACTGCATTTACATTATAACCC 0.398 NA 23 32 0 0 0.00333 0 0 SLC45A2 51151 broad.mit.edu 37 5 33984440 33984440 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:33984440C>A uc003jid.2 - 1 341 c.249G>T c.(247-249)CTG>CTT p.L83L SLC45A2_uc003jie.2_Silent_p.L83L|SLC45A2_uc003jif.3_Silent_p.L83L|SLC45A2_uc011coe.1_Silent_p.L83L NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 83 Helical; Name=2; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CGGGCTGCAGCAGGAATCCCA 0.652 Ovarian(31;380 859 8490 22203 49048) NA 11 26 5.16669e-11 6.42524e-11 0.000978 1 0 PLK2 10769 broad.mit.edu 37 5 57751897 57751897 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:57751897A>T uc003jrn.2 - 10 1467 c.1340T>A c.(1339-1341)ATG>AAG p.M447K NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 447 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) TCTGACTATCATCCGAATAGC 0.468 NA 29 50 0 0 0.002096 0 0 CMYA5 202333 broad.mit.edu 37 5 79026416 79026416 + Nonsense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:79026416G>T uc003kgc.2 + 2 1900 c.1828G>T c.(1828-1830)GAG>TAG p.E610* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 610 Glu-rich. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TGAATTACAGGAGCAAGAAGG 0.418 NA 73 121 1.1794e-34 1.80161e-34 0.00361 1 0 VCAN 1462 broad.mit.edu 37 5 82836167 82836167 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:82836167C>A uc003kii.3 + 8 7701 c.7345C>A c.(7345-7347)CAG>AAG p.Q2449K VCAN_uc003kij.3_Missense_Mutation_p.Q1462K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.Q1113K NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2449 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCAACTACTCAGGCAACCAG 0.438 NA 54 107 2.5401e-28 3.7051e-28 0.00361 1 0 HAPLN1 1404 broad.mit.edu 37 5 82948298 82948298 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:82948298G>A uc003kim.2 - 2 517 c.446C>T c.(445-447)ACT>ATT p.T149I HAPLN1_uc003kin.2_Missense_Mutation_p.T149I NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 149 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) TACCACAACAGTATCATCTTC 0.378 NA 51 107 0 0 0.00361 0 0 YTHDC2 64848 broad.mit.edu 37 5 112926863 112926863 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:112926863A>T uc003kqn.2 + 27 4134 c.3951A>T c.(3949-3951)GAA>GAT p.E1317D NM_022828 NP_073739 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1317 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding skin(2)|central_nervous_system(1) 3 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) CTAGTAATGAACGGAAGCTAA 0.403 NA 69 130 0 0 0.00361 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237734 140237734 + Missense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:140237734G>T uc003lhx.2 + 1 2101 c.2101G>T c.(2101-2103)GCC>TCC p.A701S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A701S NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 701 Helical; (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGATCATCGCCATCTGCGC 0.677 NA 17 68 2.35188e-11 2.94365e-11 0.006122 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736604 140736604 + Nonsense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:140736604G>T uc003ljq.1 + 1 1837 c.1837G>T c.(1837-1839)GAG>TAG p.E613* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Nonsense_Mutation_p.E613* NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 613 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGTCCAGCGAGCCGGGACT 0.622 NA 35 66 2.20474e-14 2.85146e-14 0.003755 1 0 ARAP3 64411 broad.mit.edu 37 5 141051832 141051832 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:141051832C>A uc003llm.2 - 10 1500 c.1422G>T c.(1420-1422)TGG>TGT p.W474C ARAP3_uc011dbe.1_Missense_Mutation_p.W136C|ARAP3_uc003lln.2_Missense_Mutation_p.W396C|ARAP3_uc003llo.1_Missense_Mutation_p.W474C NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 474 PH 2. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GAGCGGCCGCCCAGCTCTGCC 0.632 NA 37 77 2.04263e-09 2.46131e-09 0.004289 1 0 HTR4 3360 broad.mit.edu 37 5 147830764 147830764 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:147830764A>T uc003lpj.1 - 7 1312 c.1148T>A c.(1147-1149)CTG>CAG p.L383Q HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR NM_001040169 NP_001035259 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform a Error:Variant_position_missing_in_Q13639_after_alignment G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) GCATGATTCCAGGGATTCTGG 0.473 GBM(120;370 1604 14007 17804 41573) NA 55 138 0 0 0.00361 0 0 SFXN1 94081 broad.mit.edu 37 5 174938509 174938509 + Nonsense_Mutation SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:174938509G>T uc003mda.2 + 5 628 c.490G>T c.(490-492)GGA>TGA p.G164* SFXN1_uc003mdb.1_Nonsense_Mutation_p.G103* NM_022754 NP_073591 Q9H9B4 SFXN1_HUMAN sideroflexin 1 164 Helical; (Potential). iron ion homeostasis integral to membrane cation transmembrane transporter activity|protein binding ovary(1) 1 all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873) Medulloblastoma(196;0.0399)|all_neural(177;0.0663) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AACAGCTCTAGGACTCAATGC 0.413 NA 69 146 3.82405e-32 5.7509e-32 0.00361 1 0 VARS 7407 broad.mit.edu 37 6 31760560 31760560 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:31760560C>A uc003nxe.2 - 4 1058 c.635G>T c.(634-636)GGA>GTA p.G212V VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 212 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) AGGCCTGGCTCCTGAGTATAG 0.562 NA 27 50 9.04412e-07 1.0142e-06 0.004656 1 0 ATF6B 1388 broad.mit.edu 37 6 32089112 32089112 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:32089112C>T uc003nzn.2 - 6 525 c.492G>A c.(490-492)AAG>AAA p.K164K ATF6B_uc003nzo.2_Silent_p.K161K|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.1_Silent_p.K98K|ATF6B_uc011dph.1_Silent_p.K164K NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 164 Cytoplasmic (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGGTTCTATCTTGGTCTGGA 0.488 NA 10 22 0 0 0.008291 0 0 ITPR3 3710 broad.mit.edu 37 6 33608316 33608316 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:33608316C>T uc011drk.1 + 2 364 c.145C>T c.(145-147)CCT>TCT p.P49S NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 49 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 GGACAACCCCCCTAAGAAGTT 0.612 NA 59 136 0 0 0.00361 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269663 36269663 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:36269663C>T uc010jwf.2 + 6 801 c.801C>T c.(799-801)TCC>TCT p.S267S PNPLA1_uc003olw.1_Silent_p.S172S|PNPLA1_uc010jwe.1_Silent_p.S181S NM_001145717 NP_001139189 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 267 lipid catabolic process hydrolase activity large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 ATTCTTCCTCCAAGAGAGTGA 0.498 NA OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 58 0 0 0.002299 0 0 PHF3 23469 broad.mit.edu 37 6 64422791 64422791 + Silent SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:64422791C>T uc003pep.1 + 15 5333 c.5307C>T c.(5305-5307)AAC>AAT p.N1769N PHF3_uc003pen.2_Silent_p.N1681N|PHF3_uc011dxs.1_Silent_p.N1038N NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1769 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGTTGGAAACACATGTCCAT 0.423 GBM(135;136 1820 29512 34071 46235) NA 33 68 0 0 0.002836 0 0 HTR1E 3354 broad.mit.edu 37 6 87725613 87725613 + Silent SNP G G A rs146708836 TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:87725613G>A uc003pli.2 + 2 1264 c.561G>A c.(559-561)ACG>ACA p.T187T NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 187 Helical; Name=5; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TTTACTCCACGCTGGGTGCGT 0.532 NA 16 46 0 0 0.003163 0 0 SERINC1 57515 broad.mit.edu 37 6 122792857 122792857 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:122792857G>A uc003pyy.1 - 1 96 c.26C>T c.(25-27)TCC>TTC p.S9F PKIB_uc003pyz.2_5'Flank NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 9 Cytoplasmic (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) GCTCGCCATGGAGCACAGCCC 0.587 NA 36 63 0 0 0.003755 0 0 HEATR2 54919 broad.mit.edu 37 7 803547 803547 + Silent SNP G G T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:803547G>T uc010krz.1 + 8 1739 c.1719G>T c.(1717-1719)TCG>TCT p.S573S HEATR2_uc003siz.2_Silent_p.S441S|HEATR2_uc003sja.2_Silent_p.S31S NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 573 protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) TGACCGCGTCGCACCTTGACT 0.652 NA 32 101 2.23313e-29 3.30707e-29 0.002445 1 0 TTYH3 80727 broad.mit.edu 37 7 2686562 2686562 + Missense_Mutation SNP T T A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:2686562T>A uc003smp.2 + 2 386 c.199T>A c.(199-201)TGG>AGG p.W67R TTYH3_uc010ksn.2_5'Flank|TTYH3_uc003smq.2_5'Flank NM_025250 NP_079526 Q9C0H2 TTYH3_HUMAN tweety 3 67 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CTACTCCTTCTGGCTGTGCTG 0.682 NA 6 18 0 0 0.001168 0 0 GLI3 2737 broad.mit.edu 37 7 42005278 42005278 + Silent SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:42005278C>A uc011kbh.1 - 15 3484 c.3393G>T c.(3391-3393)GCG>GCT p.A1131A GLI3_uc011kbg.1_Silent_p.A1072A NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1131 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCAGCCCGGGCGCGTCAAAGT 0.637 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 54 112 1.27862e-28 1.87918e-28 0.00361 1 0 STYXL1 51657 broad.mit.edu 37 7 75659763 75659763 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:75659763C>T uc003uej.3 - 2 252 c.79G>A c.(79-81)GAC>AAC p.D27N STYXL1_uc011kgf.1_5'Flank|STYXL1_uc011kgg.1_5'Flank|STYXL1_uc003ueh.2_5'Flank|STYXL1_uc003uek.3_Missense_Mutation_p.D27N|STYXL1_uc003uel.2_Missense_Mutation_p.D27N|STYXL1_uc003uem.2_Missense_Mutation_p.D27N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.D27N|STYXL1_uc003uen.1_Missense_Mutation_p.D27N NM_016086 NP_057170 Q9Y6J8 STYL1_HUMAN map kinase phosphatase-like protein MK-STYX 27 Rhodanese. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity 0 TAGTTGGGGTCTGTTAATCTG 0.398 NA 14 47 0 0 0.004007 0 0 CACNA2D1 781 broad.mit.edu 37 7 81612643 81612643 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:81612643C>G uc003uhr.1 - 23 2137 c.1881G>C c.(1879-1881)AAG>AAC p.K627N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCATTTTGCCCTTTTTTGCTG 0.338 NA 6 19 0 0 0.001168 0 0 ABCB1 5243 broad.mit.edu 37 7 87214992 87214992 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:87214992C>A uc003uiz.1 - 5 540 c.122G>T c.(121-123)CGC>CTC p.R41L ABCB1_uc011khc.1_Missense_Mutation_p.R41L NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 41 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATTTGAATAGCGAAACTAAAA 0.328 NA 15 40 6.31663e-08 7.25104e-08 0.003163 1 0 PEX1 5189 broad.mit.edu 37 7 92147523 92147523 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:92147523C>A uc003uly.2 - 4 500 c.404G>T c.(403-405)CGA>CTA p.R135L PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.R135L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 135 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) AAAAACTATTCGAATTTGATC 0.348 NA 28 47 1.22384e-17 1.672e-17 0.002836 1 0 EPO 2056 broad.mit.edu 37 7 100320640 100320640 + Missense_Mutation SNP C C T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:100320640C>T uc003uwi.2 + 5 647 c.466C>T c.(466-468)CCA>TCA p.P156S EPO_uc011kkc.1_Missense_Mutation_p.P155S NM_000799 NP_000790 P01588 EPO_HUMAN erythropoietin precursor 156 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CTCAGCTGCTCCACTCCGAAC 0.557 NA 70 134 0 0 0.00361 0 0 C7orf60 154743 broad.mit.edu 37 7 112579784 112579784 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:112579784G>C uc003vgo.1 - 1 149 c.22C>G c.(22-24)CGA>GGA p.R8G C7orf60_uc011kms.1_Missense_Mutation_p.R8G NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 8 ovary(2)|skin(1) 3 GCAGTATTTCGGCCGCCGGCC 0.602 NA 18 22 0 0 0.00499 0 0 BRAF 673 broad.mit.edu 37 7 140481411 140481411 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr7:140481411C>A uc003vwc.3 - 11 1458 c.1397G>T c.(1396-1398)GGA>GTA p.G466V NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 466 ATP (By similarity).|Protein kinase. G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TCCAAATGATCCAGATCCAAT 0.378 Colon(40;35 892 2973 5743 27438) G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 40 74 5.85753e-14 7.52557e-14 0.00361 1 0 TMEM66 51669 broad.mit.edu 37 8 29931542 29931542 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr8:29931542G>C uc003xhs.2 - 2 317 c.133C>G c.(133-135)CTT>GTT p.L45V TMEM66_uc003xht.2_Missense_Mutation_p.L45V|TMEM66_uc003xhu.2_Missense_Mutation_p.L9V|TMEM66_uc003xhv.2_Intron NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 45 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TGGAGGGTAAGAGCTTTTACA 0.473 NA 35 69 0 0 0.004289 0 0 CSMD3 114788 broad.mit.edu 37 8 113988167 113988167 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr8:113988167C>A uc003ynu.2 - 7 1400 c.1241G>T c.(1240-1242)GGG>GTG p.G414V CSMD3_uc003ynt.2_Missense_Mutation_p.G374V|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 414 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGAGAGAGCCCGTCCTTGGA 0.473 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 94 4.88506e-25 6.96839e-25 0.00361 1 0 EXT1 2131 broad.mit.edu 37 8 119122794 119122794 + Missense_Mutation SNP G G C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr8:119122794G>C uc003yok.1 - 1 1265 c.492C>G c.(490-492)GAC>GAG p.D164E NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 164 Lumenal (Potential). D -> H (in EXT1; loss of activity). Missing: Abolishes heparan-sulfate biosynthesis.|D->E: Abolishes heparan-sulfate biosynthesis. glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GTGACAACTGGTCTCTGTCTA 0.463 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 66 112 0 0 0.00361 0 0 KCNQ3 3786 broad.mit.edu 37 8 133196573 133196573 + Missense_Mutation SNP C C G TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr8:133196573C>G uc003ytj.2 - 3 744 c.519G>C c.(517-519)TTG>TTC p.L173F KCNQ3_uc010mdt.2_Missense_Mutation_p.L173F NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 173 Helical; Name=Segment S2; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCAGATCCTCAAAGCAAACT 0.532 NA 48 79 0 0 0.00361 0 0 DMRT1 1761 broad.mit.edu 37 9 894137 894137 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr9:894137A>T uc003zgv.2 + 3 913 c.764A>T c.(763-765)AAC>ATC p.N255I DMRT1_uc003zgu.1_Missense_Mutation_p.N255I NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 255 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) CCTGTGAAGAACAGCCTTCGG 0.532 NA OREG0019071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 62 0 0 0.004656 0 0 PTPRD 5789 broad.mit.edu 37 9 8389318 8389318 + Nonsense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr9:8389318C>A uc003zkk.2 - 36 5011 c.4300G>T c.(4300-4302)GAA>TAA p.E1434* PTPRD_uc003zkp.2_Nonsense_Mutation_p.E1028*|PTPRD_uc003zkq.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkr.2_Nonsense_Mutation_p.E1018*|PTPRD_uc003zks.2_Nonsense_Mutation_p.E1027*|PTPRD_uc003zkl.2_Nonsense_Mutation_p.E1425*|PTPRD_uc003zkm.2_Nonsense_Mutation_p.E1421*|PTPRD_uc003zkn.2_Nonsense_Mutation_p.E1023*|PTPRD_uc003zko.2_Nonsense_Mutation_p.E1024* NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1434 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAAATGTTTCGGGGAGAGAT 0.418 NA TSP Lung(15;0.13) 46 113 6.17242e-35 9.50356e-35 0.00361 1 0 CTSL2 1515 broad.mit.edu 37 9 99798884 99798884 + Missense_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr9:99798884C>A uc004awt.2 - 5 739 c.542G>T c.(541-543)GGC>GTC p.G181V CTSL2_uc010msi.2_Missense_Mutation_p.G181V|CTSL2_uc004awu.2_Missense_Mutation_p.G126V|CTSL2_uc010msj.1_Missense_Mutation_p.G126V|CTSL2_uc010msk.2_Missense_Mutation_p.G126V NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 181 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) AGCCATGAAGCCACCATTGCA 0.512 NA 26 50 1.85244e-09 2.24608e-09 0.00333 1 0 SPTAN1 6709 broad.mit.edu 37 9 131371243 131371243 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr9:131371243G>A uc004bvl.3 + 35 4695 c.4582G>A c.(4582-4584)GAG>AAG p.E1528K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1528K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1508K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1528 Spectrin 16. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCGGCGCAATGAGGTCTTGGA 0.572 NSCLC(120;833 1744 2558 35612 37579) NA 20 158 0 0 0.008871 0 0 ZMYND19 116225 broad.mit.edu 37 9 140476996 140476996 + Nonstop_Mutation SNP C C A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr9:140476996C>A uc004cno.1 - 6 905 c.683G>T c.(682-684)TGA>TTA p.*228L NM_138462 NP_612471 Q96E35 ZMY19_HUMAN zinc finger, MYND domain containing 19 228 Golgi apparatus|plasma membrane zinc ion binding skin(1) 1 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCCTGCCCGTCATCGCTCTGG 0.617 NA 16 42 2.23348e-06 2.47598e-06 0.004007 1 0 PHF8 23133 broad.mit.edu 37 X 54040885 54040885 + Silent SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chrX:54040885G>A uc004dsu.2 - 7 889 c.816C>T c.(814-816)CTC>CTT p.L272L PHF8_uc004dst.2_Silent_p.L236L|PHF8_uc004dsv.2_Silent_p.L102L|PHF8_uc004dsw.2_Silent_p.L236L|PHF8_uc004dsx.2_5'UTR|PHF8_uc004dsy.2_Silent_p.L236L NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 272 JmjC. brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 GCACACTCATGAGGCAGTACT 0.478 NA 33 12 0 0 0.002445 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912927 77912927 + Nonsense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chrX:77912927G>A uc004edc.1 - 2 1287 c.991C>T c.(991-993)CAA>TAA p.Q331* NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 331 nucleic acid binding|zinc ion binding ovary(1) 1 TGGCAGAGTTGATGGATGCAC 0.468 NA 17 4 0 0 0.00499 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387407 119387407 + Missense_Mutation SNP A A T TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chrX:119387407A>T uc004esn.1 + 2 365 c.137A>T c.(136-138)CAC>CTC p.H46L ZBTB33_uc010nqm.1_Missense_Mutation_p.H46L NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 46 BTB.|Self-association (By similarity).|Interaction with NCOR1. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TTCCGGGCTCACAAGAATATT 0.453 NA 116 63 0 0 0.00361 0 0 L1CAM 3897 broad.mit.edu 37 X 153136268 153136268 + Missense_Mutation SNP G G A TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chrX:153136268G>A uc004fjb.2 - 6 779 c.671C>T c.(670-672)CCC>CTC p.P224L L1CAM_uc004fjc.2_Missense_Mutation_p.P224L|L1CAM_uc010nuo.2_Missense_Mutation_p.P219L|L1CAM_uc004fjd.1_Missense_Mutation_p.P38L|L1CAM_uc004fje.1_Missense_Mutation_p.P219L NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 224 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGTCAATGGGTTCCTTCTG 0.572 NA 27 30 0 0 0.005443 0 0 C10orf25 220979 broad.mit.edu 37 10 45496165 45496165 + Frame_Shift_Del DEL G G - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr10:45496165delG uc001jbv.1 - 1 172 c.143delC c.(142-144)CCAfs p.P48fs C10orf25_uc010qff.1_RNA|ZNF22_uc001jbw.2_5'Flank NM_001039380 NP_001034469 Q5T742 CJ025_HUMAN hypothetical protein LOC220979 precursor 48 extracellular region 0 GCTAGAGTTTGGTTTCAAAAG 0.423 NA 15 28 --- --- --- --- NA NA NA NA NA MUC6 4588 broad.mit.edu 37 11 1017661 1017663 + In_Frame_Del DEL TGT TGT - rs72022620 TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 TGT TGT - - TGT TGT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr11:1017661_1017663delTGT uc001lsw.2 - 31 5189_5191 c.5138_5140delACA c.(5137-5142)AACATC>ATC p.N1713del NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1713 Thr-rich.|1; truncated.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGGGGGTGATGTTGGTGGTAGA 0.527 NA 7 923 --- --- --- --- NA NA NA NA NA KRT73 319101 broad.mit.edu 37 12 53012229 53012229 + Frame_Shift_Del DEL C C - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:53012229delC uc001sas.2 - 1 115 c.80delG c.(79-81)GGCfs p.G27fs NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 27 Head.|Gly-rich. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GGATGAGCTGCCCCCTGAGAG 0.632 NA 54 88 --- --- --- --- NA NA NA NA NA HAL 3034 broad.mit.edu 37 12 96388596 96388604 + Splice_Site DEL TGCTGTATC TGCTGTATC - rs147252912 TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 TGCTGTATC TGCTGTATC - - TGCTGTATC TGCTGTATC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr12:96388596_96388604delTGCTGTATC uc001tem.1 - 4 606 c.309_splice c.e4-1 p.L103_splice HAL_uc009zti.1_Splice_Site|HAL_uc010suw.1_Splice_Site|HAL_uc010sux.1_Splice_Site_p.L103_splice NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) TCCCGGTACTTGCTGTATCTGTATCCAGG 0.483 NSCLC(169;943 2815 23563 30031) NA 37 107 --- --- --- --- NA NA NA NA NA MED16 10025 broad.mit.edu 37 19 889717 889717 + Frame_Shift_Del DEL C C - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:889717delC uc002lqd.1 - 4 519 c.368delG c.(367-369)GGCfs p.G123fs MED16_uc002lqe.2_Frame_Shift_Del_p.G112fs|MED16_uc002lqf.2_Frame_Shift_Del_p.G112fs|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfx.1_Frame_Shift_Del_p.G112fs|MED16_uc010xfy.1_Frame_Shift_Del_p.G112fs NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 123 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTAGGCTGCCCACTGAGCT 0.627 NA 15 15 --- --- --- --- NA NA NA NA NA STK11 6794 broad.mit.edu 37 19 1220432 1220432 + Frame_Shift_Del DEL G G - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:1220432delG uc002lrl.1 + 4 1640 c.525delG c.(523-525)AAGfs p.K175fs NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 175 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.Y156fs*87(4)|p.?(4)|p.G52_P179del(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TTGTGCACAAGGACATCAAGC 0.657 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 7 7 --- --- --- --- NA NA NA NA NA ZNF28 7576 broad.mit.edu 37 19 53303512 53303512 + Frame_Shift_Del DEL C C - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:53303512delC uc002qad.2 - 4 1706 c.1586delG c.(1585-1587)GGCfs p.G529fs ZNF28_uc002qac.2_Frame_Shift_Del_p.G476fs|ZNF28_uc010eqe.2_Frame_Shift_Del_p.G475fs NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 529 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) AAAAACCTTGCCACATTCATT 0.388 NA 46 106 --- --- --- --- NA NA NA NA NA USP29 57663 broad.mit.edu 37 19 57640737 57640738 + Frame_Shift_Ins INS - - C TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr19:57640737_57640738insC uc002qny.2 + 4 1050_1051 c.694_695insC c.(694-696)TGTfs p.C232fs NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 232 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAATACCAACTGTAATGGAAAT 0.396 NA 45 94 --- --- --- --- NA NA NA NA NA SATB1 6304 broad.mit.edu 37 3 18436169 18436180 + In_Frame_Del DEL ACTGCTGGTTCA ACTGCTGGTTCA - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 ACTGCTGGTTCA ACTGCTGGTTCA - - ACTGCTGGTTCA ACTGCTGGTTCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr3:18436169_18436180delACTGCTGGTTCA uc003cbh.2 - 7 2715_2726 c.980_991delTGAACCAGCAGT c.(979-993)CTGAACCAGCAGTAT>CAT p.327_331LNQQY>H SATB1_uc003cbi.2_In_Frame_Del_p.327_331LNQQY>H|SATB1_uc003cbj.2_In_Frame_Del_p.327_331LNQQY>H NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 327_331 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 TTCACTGCATACTGCTGGTTCAGCAGCTGAGC 0.505 NA 29 96 --- --- --- --- NA NA NA NA NA NMUR2 56923 broad.mit.edu 37 5 151784497 151784497 + Frame_Shift_Del DEL C C - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr5:151784497delC uc003luv.2 - 1 344 c.178delG c.(178-180)GTCfs p.V60fs NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 60 Helical; Name=1; (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) TTGCCAATGACCCCCACCACA 0.577 NA 28 50 --- --- --- --- NA NA NA NA NA AARS2 57505 broad.mit.edu 37 6 44278144 44278144 + Frame_Shift_Del DEL C C - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chr6:44278144delC uc010jza.1 - 5 789 c.786delG c.(784-786)CGGfs p.R262fs SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 262 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) TGTCCACATGCCGCTGGGGCA 0.607 NA 7 34 --- --- --- --- NA NA NA NA NA RBM10 8241 broad.mit.edu 37 X 47032582 47032582 + Frame_Shift_Del DEL G G - TCGA-78-7537-01A-11D-2063-08 TCGA-78-7537-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1220499d-62a1-40da-8414-5d0f27af11ee e1fbf46c-f8bd-4cfc-83f2-b369ada74987 g.chrX:47032582delG uc004dhf.2 + 5 867 c.488delG c.(487-489)CGGfs p.R163fs RBM10_uc004dhe.1_Frame_Shift_Del_p.R153fs|RBM10_uc004dhg.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhh.2_Frame_Shift_Del_p.R163fs|RBM10_uc010nhq.2_Frame_Shift_Del_p.R86fs|RBM10_uc004dhi.2_Frame_Shift_Del_p.R228fs NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 163 RRM 1. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1) 5 CGGCTGATGCGGAACAAATCT 0.602 Melanoma(171;120 2705 19495 39241) NA 19 7 --- --- --- --- NA NA NA NA NA