Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KLHDC7A 127707 broad.mit.edu 37 1 18808991 18808991 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:18808991G>A uc001bax.2 + 1 1568 c.1516G>A c.(1516-1518)GGC>AGC p.G506S KLHDC7A_uc009vpg.2_Missense_Mutation_p.G288S NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 506 Kelch 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGAAGACTCCGGCGGCCTCTG 0.697 NA 14 53 0 0 0 0 ZMYM4 9202 broad.mit.edu 37 1 35881288 35881288 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:35881288C>T uc001byt.2 + 28 4362 c.4282C>T c.(4282-4284)CCT>TCT p.P1428S ZMYM4_uc009vuu.2_Missense_Mutation_p.P1396S|ZMYM4_uc001byu.2_Missense_Mutation_p.P1104S|ZMYM4_uc009vuv.2_Missense_Mutation_p.P1167S NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1428 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTTCTTCCCACCTTTACAGAA 0.428 NA 22 27 0 0 0 0 ACADM 34 broad.mit.edu 37 1 76205698 76205698 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:76205698G>A uc001dgw.3 + 7 932 c.502G>A c.(502-504)GAT>AAT p.D168N ACADM_uc010orc.1_3'UTR|ACADM_uc010ord.1_Missense_Mutation_p.D82N|ACADM_uc009wbp.2_Missense_Mutation_p.D172N|ACADM_uc009wbr.2_Missense_Mutation_p.D201N|ACADM_uc010ore.1_Missense_Mutation_p.D132N|ACADM_uc010orf.1_5'UTR|ACADM_uc001dgx.3_Missense_Mutation_p.D82N|ACADM_uc010org.1_Missense_Mutation_p.D38N NM_000016 NP_000007 P11310 ACADM_HUMAN medium-chain acyl-CoA dehydrogenase isoform a 168 carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process mitochondrial matrix flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity breast(2)|ovary(1)|skin(1) 4 AGCAGGCTCTGATGTAGCTGG 0.338 NA 12 16 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79357299 79357299 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:79357299G>A uc001diq.3 - 14 2076 c.1920C>T c.(1918-1920)CAC>CAT p.H640H NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 640 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CCACTGATGCGTGCACAACAT 0.448 NA 11 19 0 0 0 0 HIPK1 204851 broad.mit.edu 37 1 114499787 114499787 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:114499787G>A uc001eem.2 + 7 1795 c.1634G>A c.(1633-1635)AGG>AAG p.R545K HIPK1_uc001eel.2_Missense_Mutation_p.R545K|HIPK1_uc001een.2_Missense_Mutation_p.R545K|HIPK1_uc001eeo.2_Missense_Mutation_p.R171K|HIPK1_uc001eep.2_Missense_Mutation_p.R151K NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGCAAGCGGAGGGTTCACATG 0.388 NA 15 28 0 0 0 0 TDRKH 11022 broad.mit.edu 37 1 151751319 151751319 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:151751319G>C uc009wnb.1 - 6 907 c.725C>G c.(724-726)TCT>TGT p.S242C TDRKH_uc001eyy.2_Missense_Mutation_p.S18C|TDRKH_uc001ezb.3_Missense_Mutation_p.S238C|TDRKH_uc001ezc.3_Missense_Mutation_p.S197C|TDRKH_uc001eza.3_Missense_Mutation_p.S242C|TDRKH_uc001ezd.3_Missense_Mutation_p.S242C|TDRKH_uc010pdn.1_Missense_Mutation_p.S18C NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing isoform a 242 RNA binding ovary(1)|pancreas(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTCCATGCTAGAACTGGTGTT 0.542 NA 16 93 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158612629 158612629 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:158612629G>T uc001fst.1 - 32 4779 c.4580C>A c.(4579-4581)TCC>TAC p.S1527Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1527 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCTTTGTAGGATTCATCACA 0.443 NA 35 90 1.05e-18 1.22e-18 1 0 DNM3 26052 broad.mit.edu 37 1 172356476 172356476 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:172356476C>T uc001gie.2 + 19 2438 c.2262C>T c.(2260-2262)GAC>GAT p.D754D DNM3_uc001gif.2_Silent_p.D750D|DNM3_uc001gih.1_Silent_p.D110D NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 760 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CAGTGGATGACTCCTGGATAC 0.383 NA 6 14 0 0 0 0 RGL1 23179 broad.mit.edu 37 1 183891440 183891440 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:183891440G>A uc001gqo.2 + 17 2246 c.2089G>A c.(2089-2091)GAG>AAG p.E697K RGL1_uc001gqm.2_Missense_Mutation_p.E732K|RGL1_uc010pog.1_Missense_Mutation_p.E695K|RGL1_uc010poh.1_Missense_Mutation_p.E695K|RGL1_uc010poi.1_Missense_Mutation_p.E668K NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 697 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 CGAGGAGTACGAGCTGGTGCA 0.572 NA OREG0014047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 15 0 0 0 0 TPR 7175 broad.mit.edu 37 1 186310164 186310164 + Missense_Mutation SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:186310164T>C uc001grv.2 - 29 4313 c.4016A>G c.(4015-4017)AAC>AGC p.N1339S NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 1339 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) ATTTACCTGGTTACGTGCTTT 0.393 NA T NTRK1 papillary thyroid 19 82 0 0 0 0 RGS21 431704 broad.mit.edu 37 1 192321331 192321331 + Silent SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:192321331T>C uc001gsh.2 + 4 417 c.243T>C c.(241-243)GAT>GAC p.D81D NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 81 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 TTGAAGCTGATGCACCTAAAG 0.378 NA 8 29 0 0 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228389 204228389 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:204228389C>T uc001hau.2 - 8 1321 c.1004G>A c.(1003-1005)CGG>CAG p.R335Q PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 335 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCCTCACCTCCGAAGGTCTTC 0.617 NA 5 23 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237664039 237664039 + Silent SNP A A G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:237664039A>G uc001hyl.1 + 21 2352 c.2232A>G c.(2230-2232)CCA>CCG p.P744P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 744 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAAGCTCACCAAACCAACATC 0.413 NA 56 184 0 0 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243437866 243437867 + Missense_Mutation DNP AC AC TT TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:243437866_243437867AC>TT uc001hzw.2 + 4 484_485 c.328_329AC>TT c.(328-330)ACC>TTC p.T110F SDCCAG8_uc010pyk.1_Intron|SDCCAG8_uc010pyl.1_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 110 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) ACATGAGGAAACCAATATGCCT 0.287 NA 6 35 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247588430 247588430 + Missense_Mutation SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:247588430T>G uc001icr.2 + 5 1823 c.1685T>G c.(1684-1686)CTG>CGG p.L562R NLRP3_uc001ics.2_Missense_Mutation_p.L562R|NLRP3_uc001icu.2_Missense_Mutation_p.L562R|NLRP3_uc001icw.2_Missense_Mutation_p.L562R|NLRP3_uc001icv.2_Missense_Mutation_p.L562R|NLRP3_uc010pyw.1_Missense_Mutation_p.L560R|NLRP3_uc001ict.1_Missense_Mutation_p.L560R NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 562 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACAGTCCTTCTGGAAAACTAT 0.478 NA 6 25 0 0 0 0 OR2T4 127074 broad.mit.edu 37 1 248525602 248525602 + Silent SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:248525602C>A uc001ieh.1 + 1 720 c.720C>A c.(718-720)CTC>CTA p.L240L NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 240 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCATGCTCCTCATCCCTGTGG 0.478 NA 27 83 8.58e-18 9.95e-18 1 0 GAD2 2572 broad.mit.edu 37 10 26581498 26581498 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:26581498G>A uc001isp.2 + 14 1994 c.1491G>A c.(1489-1491)GGG>GGA p.G497G GAD2_uc001isq.2_Silent_p.G497G NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 497 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TGTTTGATGGGAAGGTATGTA 0.388 NA 8 35 0 0 0 0 ZNF438 220929 broad.mit.edu 37 10 31138093 31138093 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:31138093C>G uc010qdz.1 - 7 1676 c.1241G>C c.(1240-1242)AGA>ACA p.R414T ZNF438_uc001ivn.2_Missense_Mutation_p.R365T|ZNF438_uc010qdy.1_Missense_Mutation_p.R404T|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.R414T|ZNF438_uc001ivp.3_Missense_Mutation_p.R404T|ZNF438_uc010qea.1_Missense_Mutation_p.R414T|ZNF438_uc010qeb.1_Missense_Mutation_p.R414T|ZNF438_uc010qec.1_5'UTR NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) ATTTTTTACTCTTTCTTTACC 0.378 NA 9 43 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37431034 37431034 + Silent SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:37431034T>G uc001iza.1 + 7 1140 c.1041T>G c.(1039-1041)TCT>TCG p.S347S NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAGAAACATCTGAGAAATTTA 0.433 NA 9 58 0 0 0 0 BMS1 9790 broad.mit.edu 37 10 43285840 43285840 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:43285840G>A uc001jaj.2 + 5 875 c.517G>A c.(517-519)GTA>ATA p.V173I NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 173 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 CATCTGTCAAGTACATGGCTT 0.378 NA 24 71 0 0 0 0 OR13A1 79290 broad.mit.edu 37 10 45799763 45799763 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:45799763C>T uc001jcc.1 - 4 417 c.108G>A c.(106-108)TCG>TCA p.S36S OR13A1_uc001jcd.1_Silent_p.S32S NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 36 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGGGTGCTCCGAAAAGCCCT 0.527 NA 5 24 0 0 0 0 C10orf72 196740 broad.mit.edu 37 10 50285363 50285363 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:50285363C>T uc001jhf.2 - 4 564 c.535G>A c.(535-537)GTG>ATG p.V179M NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 179 Extracellular (Potential). integral to membrane|plasma membrane 0 ACAGCATACACATAGAGATCT 0.512 NA 6 25 0 0 0 0 OGDHL 55753 broad.mit.edu 37 10 50946288 50946288 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:50946288C>T uc001jie.2 - 18 2482 c.2340G>A c.(2338-2340)GCG>GCA p.A780A OGDHL_uc009xog.2_Silent_p.A807A|OGDHL_uc010qgt.1_Silent_p.A723A|OGDHL_uc010qgu.1_Silent_p.A571A NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 780 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 TTTCGGGCCTCGCTGACGAGT 0.617 NA 4 27 0 0 0 0 HK1 3098 broad.mit.edu 37 10 71103643 71103643 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:71103643C>T uc001jpl.3 + 2 225 c.124C>T c.(124-126)CGC>TGC p.R42C HK1_uc009xqc.1_3'UTR|HK1_uc001jpg.3_Missense_Mutation_p.R30C|HK1_uc001jph.3_Missense_Mutation_p.R46C|HK1_uc001jpi.3_Missense_Mutation_p.R46C|HK1_uc001jpj.3_Missense_Mutation_p.R77C|HK1_uc001jpk.3_Missense_Mutation_p.R41C|HK1_uc009xqd.2_5'UTR NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 42 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 TATCATGACTCGCTTCAGGAA 0.498 NA 8 112 0 0 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118396336 118396336 + Missense_Mutation SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:118396336T>C uc001lcq.2 + 12 1003 c.980T>C c.(979-981)ATG>ACG p.M327T PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 326 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TGCCCCAAAATGGGGCACTAT 0.403 NA 5 9 0 0 0 0 C10orf82 143379 broad.mit.edu 37 10 118425293 118425293 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr10:118425293C>G uc001lcr.2 - 3 155 c.100G>C c.(100-102)GAC>CAC p.D34H C10orf82_uc001lcs.1_Missense_Mutation_p.D34H NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 34 0 all cancers(201;0.0143) TGGTTCATGTCATCCTCCTTG 0.517 NA 8 39 0 0 0 0 OR51B2 79345 broad.mit.edu 37 11 5345347 5345347 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:5345347G>A uc001mao.1 - 1 236 c.181C>T c.(181-183)CTC>TTC p.L61F HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCATGGTGAGGAAGTAGTAC 0.512 NA 9 66 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136643 40136643 + Missense_Mutation SNP T T A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:40136643T>A uc001mxa.1 - 2 3164 c.1200A>T c.(1198-1200)AAA>AAT p.K400N LRRC4C_uc001mxc.1_Missense_Mutation_p.K396N|LRRC4C_uc001mxd.1_Missense_Mutation_p.K396N|LRRC4C_uc001mxb.1_Missense_Mutation_p.K396N NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 400 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CTATCCGCACTTTGTACGCCC 0.463 NA 25 132 0 0 0 0 LRP4 4038 broad.mit.edu 37 11 46900560 46900560 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:46900560C>T uc001ndn.3 - 22 3180 c.3034G>A c.(3034-3036)GGC>AGC p.G1012S NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1012 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) TGGCTACAGCCGCCATTCTCC 0.567 NA 9 148 0 0 0 0 OR4C46 119749 broad.mit.edu 37 11 51515672 51515672 + Missense_Mutation SNP A A C rs140334906 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:51515672A>C uc010ric.1 + 1 391 c.391A>C c.(391-393)ATG>CTG p.M131L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTTGCACTATATGACTATCAT 0.478 NA 31 69 0 0 0 0 OR5L1 219437 broad.mit.edu 37 11 55579363 55579363 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:55579363C>T uc001nhw.1 + 1 421 c.421C>T c.(421-423)CGT>TGT p.R141C NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TTGGAAGGTGCGTGTGGAGCT 0.498 NA 15 64 0 0 0 0 OR5R1 219479 broad.mit.edu 37 11 56185142 56185142 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:56185142G>A uc010rji.1 - 1 567 c.567C>T c.(565-567)TGC>TGT p.C189C NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTGTGTCTGAGCAGGACAGAG 0.428 NA 5 43 0 0 0 0 OR10W1 81341 broad.mit.edu 37 11 58034658 58034658 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:58034658G>T uc001nmq.1 - 1 1075 c.673C>A c.(673-675)CGC>AGC p.R225S NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GCCCGGTGGCGGCCAGCAGCC 0.587 NA 6 43 2.18e-05 2.37e-05 1 0 RTN3 10313 broad.mit.edu 37 11 63517599 63517599 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:63517599C>T uc001nxq.2 + 4 2854 c.2667C>T c.(2665-2667)GTC>GTT p.V889V RTN3_uc001nxo.2_Silent_p.V93V|RTN3_uc001nxm.2_Silent_p.V112V|RTN3_uc001nxn.2_Silent_p.V870V|RTN3_uc001nxp.2_Silent_p.V93V|RTN3_uc009yov.2_Silent_p.V777V|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Silent_p.V93V NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 889 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 TTCTCTCTGTCACCATCAGCT 0.473 NA 5 9 0 0 0 0 C2CD3 26005 broad.mit.edu 37 11 73789513 73789513 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:73789513G>A uc001ouu.2 - 23 4477 c.4250C>T c.(4249-4251)CCC>CTC p.P1417L C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1417 P -> S (in Ref. 1; BAE17137). centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) ACAATGGATGGGCAGCCACAG 0.493 NA 18 41 0 0 0 0 MOGAT2 80168 broad.mit.edu 37 11 75439149 75439149 + Missense_Mutation SNP C C T rs144185928 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:75439149C>T uc010rru.1 + 4 610 c.610C>T c.(610-612)CGG>TGG p.R204W MOGAT2_uc001oww.1_Missense_Mutation_p.R204W|MOGAT2_uc010rrv.1_Missense_Mutation_p.R122W NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 204 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) GCTGTTACTGCGGAACCGAAA 0.562 NA 5 28 0 0 0 0 SYTL2 54843 broad.mit.edu 37 11 85456724 85456724 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:85456724G>A uc010rth.1 - 3 621 c.345C>T c.(343-345)GGC>GGT p.G115G SYTL2_uc010rtg.1_Silent_p.G115G|SYTL2_uc010rti.1_Silent_p.G115G|SYTL2_uc010rtj.1_Silent_p.G67G|SYTL2_uc001pbf.3_Silent_p.G115G NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 115 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTTCTACAACGCCAGCCAGCT 0.517 NA 7 78 0 0 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103029735 103029735 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr11:103029735C>T uc001pho.2 + 28 4501 c.4357C>T c.(4357-4359)CAC>TAC p.H1453Y DYNC2H1_uc001phn.1_Missense_Mutation_p.H1453Y|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1453 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GATTCAGTCTCACCTGAAGAA 0.254 NA 3 21 0 0 0 0 FGF23 8074 broad.mit.edu 37 12 4479716 4479716 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:4479716G>A uc001qmq.1 - 3 695 c.549C>T c.(547-549)GAC>GAT p.D183D NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 183 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GCTCCGAGTCGTCCTCGGCGC 0.682 NA 9 36 0 0 0 0 C12orf36 283422 broad.mit.edu 37 12 13529255 13529255 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:13529255C>T uc001rbs.1 - 2 303 c.85G>A c.(85-87)GAC>AAC p.D29N NM_182558 NP_872364 hypothetical protein LOC283422 0 BRCA - Breast invasive adenocarcinoma(232;0.198) catgaagtgtcttcatcagga 0.06 NA 5 16 0 0 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20905254 20905254 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:20905254G>A uc001rej.3 + 16 2286 c.1931G>A c.(1930-1932)GGA>GAA p.G644E SLCO1C1_uc010sii.1_Silent_p.G678G|SLCO1C1_uc010sij.1_Missense_Mutation_p.G595E|SLCO1C1_uc009zip.2_Silent_p.G512G|SLCO1C1_uc001rei.2_Missense_Mutation_p.G644E|SLCO1C1_uc010sik.1_Silent_p.G560G NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 644 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) ATATATCTGGGACTAACTGTG 0.303 NA 4 23 0 0 0 0 ACCN2 41 broad.mit.edu 37 12 50471784 50471784 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:50471784C>T uc001rvw.2 + 5 940 c.711C>T c.(709-711)GAC>GAT p.D237D ACCN2_uc001rvv.2_Silent_p.D237D|ACCN2_uc009zln.2_Silent_p.D28D|ACCN2_uc009zlo.2_Silent_p.D237D NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 237 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) TTCCCCTAGACGAGACGTCCT 0.567 NA 12 69 0 0 0 0 R3HDM2 22864 broad.mit.edu 37 12 57660592 57660592 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:57660592G>A uc009zpm.1 - 17 2046 c.2011C>T c.(2011-2013)CCC>TCC p.P671S R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.P366S|R3HDM2_uc001snr.2_Missense_Mutation_p.P398S|R3HDM2_uc001sns.2_Missense_Mutation_p.P671S|R3HDM2_uc001snt.2_Missense_Mutation_p.P685S|R3HDM2_uc009zpn.1_Intron NM_014925 NP_055740 Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 671 Gln-rich. nucleus nucleic acid binding ovary(2) 2 GAGCCAGGGGGTTGCAGAAAC 0.552 NA 5 16 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78516145 78516145 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:78516145G>A uc001syp.2 + 16 4348 c.4175G>A c.(4174-4176)GGC>GAC p.G1392D NAV3_uc001syo.2_Missense_Mutation_p.G1392D|NAV3_uc010sub.1_Missense_Mutation_p.G892D|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1392 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTGACCACAGGCACTCACGAG 0.547 NA HNSCC(70;0.22) 14 79 0 0 0 0 ACACB 32 broad.mit.edu 37 12 109660402 109660402 + Missense_Mutation SNP A A G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr12:109660402A>G uc001tob.2 + 25 3774 c.3655A>G c.(3655-3657)AAA>GAA p.K1219E ACACB_uc001toc.2_Missense_Mutation_p.K1219E NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1219 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CGAGCACTGCAAAGTGGCCCT 0.622 NA 7 26 0 0 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751321 19751321 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr13:19751321G>C uc009zzj.2 - 4 851 c.802C>G c.(802-804)CCC>GCC p.P268A NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 268 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GTGGCCAGGGGGAAGTGGATG 0.617 NA 32 80 0 0 0 0 SPATA13 221178 broad.mit.edu 37 13 24868931 24868931 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr13:24868931G>A uc001upg.1 + 9 1667 c.1260G>A c.(1258-1260)CTG>CTA p.L420L SPATA13_uc001upd.1_Silent_p.L1045L|C1QTNF9_uc001upe.2_RNA|SPATA13_uc010tcy.1_Silent_p.L366L|SPATA13_uc010tcz.1_Silent_p.L304L|SPATA13_uc010tda.1_Silent_p.L364L|SPATA13_uc001uph.2_Silent_p.L342L|SPATA13_uc010tdb.1_Silent_p.L280L|SPATA13_uc009zzz.1_Intron|SPATA13_uc001upi.1_5'Flank NM_153023 NP_694568 Q96N96 SPT13_HUMAN spermatogenesis associated 13 420 DH. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity skin(2)|ovary(1) 3 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) TGGCCTGTCTGATCAACGAGC 0.488 NA 11 47 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28959121 28959121 + Missense_Mutation SNP C C T rs137937570 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr13:28959121C>T uc001usb.3 - 14 2302 c.2017G>A c.(2017-2019)GCC>ACC p.A673T FLT1_uc010aar.1_Missense_Mutation_p.A673T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 673 Ig-like C2-type 7.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTGCTGATGGCCACTGTGTGA 0.448 NA 25 70 0 0 0 0 PDS5B 23047 broad.mit.edu 37 13 33247377 33247377 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr13:33247377G>C uc010abf.2 + 8 888 c.730G>C c.(730-732)GGG>CGG p.G244R PDS5B_uc001uuo.2_Missense_Mutation_p.G244R|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_5'Flank NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 244 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TCTGATGCTTGGGAAAACATC 0.353 NA 18 49 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20295797 20295797 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:20295797G>C uc010tkv.1 + 1 190 c.190G>C c.(190-192)GGC>CGC p.G64R NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTCTTTCTGGGCAACTTGGC 0.468 NA 92 538 0 0 0 0 OR4E2 26686 broad.mit.edu 37 14 22134074 22134074 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:22134074C>T uc010tmd.1 + 1 778 c.778C>T c.(778-780)CGG>TGG p.R260W NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CATCTATACTCGGCCAGACAC 0.512 NA 20 13 0 0 0 0 PCK2 5106 broad.mit.edu 37 14 24566219 24566219 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:24566219C>T uc001wlt.2 + 2 280 c.148C>T c.(148-150)CAC>TAC p.H50Y NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Missense_Mutation_p.H62Y|PCK2_uc001wls.2_Missense_Mutation_p.H50Y|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.1_5'UTR|PCK2_uc001wlu.3_5'UTR NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 50 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) TTTTGTAGAGCACAGTGCCCG 0.587 NA 4 61 0 0 0 0 LTB4R 1241 broad.mit.edu 37 14 24785327 24785327 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:24785327C>G uc001wos.2 + 2 791 c.470C>G c.(469-471)ACA>AGA p.T157R LTB4R_uc010alp.2_Missense_Mutation_p.T157R|LTB4R_uc001wou.2_Missense_Mutation_p.T157R NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 157 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) GCGTACCGCACAGTAGTGCCC 0.632 NA 43 37 0 0 0 0 TSHR 7253 broad.mit.edu 37 14 81609450 81609450 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:81609450G>A uc001xvd.1 + 10 1204 c.1048G>A c.(1048-1050)GCT>ACT p.A350T NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 350 Extracellular (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCATAACAACGCTCATTATTA 0.448 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 8 61 0 0 0 0 TRIP11 9321 broad.mit.edu 37 14 92491671 92491671 + Nonsense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:92491671G>A uc001xzy.2 - 3 1083 c.295C>T c.(295-297)CAA>TAA p.Q99* NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 99 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) TGTTGAAGTTGATTTCGGTAA 0.308 NA T PDGFRB AML 6 30 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416847 105416847 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr14:105416847G>A uc010axc.1 - 7 5061 c.4941C>T c.(4939-4941)GCC>GCT p.A1647A AHNAK2_uc001ypx.2_Silent_p.A1547A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1647 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) CCGCCTTGTCGGCCAGGGACA 0.607 NA 99 115 0 0 0 0 FAM98B 283742 broad.mit.edu 37 15 38773502 38773502 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr15:38773502G>T uc001zkb.1 + 7 774 c.739G>T c.(739-741)GAT>TAT p.D247Y FAM98B_uc001zkc.2_Missense_Mutation_p.D247Y NM_001042429 NP_001035894 Q52LJ0 FA98B_HUMAN family with sequence similarity 98, member B 247 tRNA-splicing ligase complex protein binding ovary(1) 1 all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209) GGTAAAAACAGATGATATAGC 0.328 NA 7 25 8.13e-05 8.76e-05 1 0 NR2F2 7026 broad.mit.edu 37 15 96880846 96880846 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr15:96880846C>T uc010uri.1 + 3 2464 c.1240C>T c.(1240-1242)CAA>TAA p.Q414* NR2F2_uc002btp.2_Nonsense_Mutation_p.Q281*|NR2F2_uc010urj.1_Nonsense_Mutation_p.Q261*|NR2F2_uc010urk.1_Nonsense_Mutation_p.Q261* NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 414 Interaction with ZFPM2 (By similarity).|Important for dimerization.|Ligand-binding (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) TATGGCAATTCAATAAATAAA 0.378 NA 12 83 0 0 0 0 ABCC1 4363 broad.mit.edu 37 16 16170205 16170205 + Silent SNP C C T rs150333922 by1000genomes TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:16170205C>T uc010bvi.2 + 15 2110 c.1935C>T c.(1933-1935)ACC>ACT p.T645T ABCC1_uc010bvj.2_Silent_p.T645T|ABCC1_uc010bvk.2_Silent_p.T645T|ABCC1_uc010bvl.2_Silent_p.T645T|ABCC1_uc010bvm.2_Silent_p.T645T|ABCC1_uc002del.3_Silent_p.T529T NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 645 ABC transporter 1.|Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACAGCATCACCGTGAGGAATG 0.483 NA 5 11 0 0 0 0 ABCC6 368 broad.mit.edu 37 16 16256934 16256934 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:16256934C>T uc002den.3 - 24 3459 c.3422G>A c.(3421-3423)CGA>CAA p.R1141Q ABCC6_uc010bvo.2_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1141 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GGCCTGGGTTCGGAATGCCCG 0.597 NA 18 55 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31090886 31090886 + Missense_Mutation SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:31090886T>G uc002eap.2 + 2 3530 c.3241T>G c.(3241-3243)TGC>GGC p.C1081G NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 1081 C2H2-type 19. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 AGACTTTCTCTGCCCTGTCTG 0.627 NA 47 118 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49670062 49670062 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:49670062C>T uc002efs.2 - 5 3299 c.3001G>A c.(3001-3003)GAG>AAG p.E1001K ZNF423_uc010vgn.1_Missense_Mutation_p.E884K NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1001 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) ATAAACTCCTCCTCGCTCTGC 0.592 NA 6 11 0 0 0 0 CDH8 1006 broad.mit.edu 37 16 61687979 61687979 + Silent SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:61687979G>T uc002eog.1 - 12 2185 c.1933C>A c.(1933-1935)CGG>AGG p.R645R NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 645 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTATGCCGCCGTAGAGTTACA 0.383 NA 13 53 3.04e-14 3.5e-14 1 0 CHST4 10164 broad.mit.edu 37 16 71571468 71571468 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr16:71571468G>T uc002fan.2 + 2 1069 c.888G>T c.(886-888)TTG>TTT p.L296F CHST4_uc002fao.2_Missense_Mutation_p.L296F NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 296 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 TCGTGGGATTGGAATTCTTGC 0.567 NA OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 36 0.000274275 0.000291708 1 0 KCTD11 147040 broad.mit.edu 37 17 7256830 7256830 + Missense_Mutation SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:7256830T>G uc002gge.3 + 1 1623 c.569T>G c.(568-570)GTG>GGG p.V190G TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank NM_001002914 NP_001002914 Q693B1 KCD11_HUMAN potassium channel tetramerisation domain 190 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Prostate(122;0.157) CGGCGGGAGGTGGTGGGCACC 0.692 NA 6 25 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G G A rs121913344 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGCTTACCTCGCTTAGTGCTC 0.562 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 34 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10412811 10412811 + Silent SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:10412811G>C uc002gmo.2 - 15 1672 c.1578C>G c.(1576-1578)CTC>CTG p.L526L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 526 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CCTTCTCGATGAGCTCGATGC 0.443 NA 32 29 0 0 0 0 C17orf48 56985 broad.mit.edu 37 17 10608831 10608831 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:10608831G>A uc002gmt.2 + 2 663 c.588G>A c.(586-588)CTG>CTA p.L196L C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Silent_p.L196L NM_020233 NP_064618 Q3LIE5 ADPRM_HUMAN ADP-ribose/CDP-alcohol pyrophosphatase 196 ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding 0 ATACGGAACTGAATAGTCCTC 0.383 NA 20 27 0 0 0 0 SLFN5 162394 broad.mit.edu 37 17 33592764 33592764 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:33592764G>A uc002hjf.3 + 5 2650 c.2533G>A c.(2533-2535)GTC>ATC p.V845I SLFN5_uc010wcg.1_3'UTR NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 845 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GTTGGACAGTGTCTGTCGATT 0.488 NA 6 41 0 0 0 0 JUP 3728 broad.mit.edu 37 17 39914709 39914709 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:39914709C>T uc002hxq.2 - 10 1992 c.1715G>A c.(1714-1716)CGG>CAG p.R572Q JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R572Q|JUP_uc002hxs.2_Missense_Mutation_p.R572Q NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 572 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CATGGGGTCCCGGGCGAGGAT 0.627 NA 6 41 0 0 0 0 BRCA1 672 broad.mit.edu 37 17 41276072 41276072 + Silent SNP G G A rs80356827 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:41276072G>A uc002icq.2 - 2 274 c.42C>T c.(40-42)GTC>GTT p.V14V BRCA1_uc010whp.1_Intron|NBR2_uc002idf.2_5'Flank|NBR2_uc010czb.1_5'Flank|NBR2_uc002idg.2_5'Flank|NBR2_uc002idh.2_5'Flank|BRCA1_uc010whl.1_Silent_p.V14V|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_5'UTR|BRCA1_uc002icu.2_Silent_p.V14V|BRCA1_uc010cyx.2_5'UTR|BRCA1_uc002ict.2_Silent_p.V14V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc002idc.1_Silent_p.V14V|BRCA1_uc010whr.1_5'UTR|BRCA1_uc002idd.2_Silent_p.V14V|BRCA1_uc010cyy.1_Silent_p.V14V|BRCA1_uc010whs.1_Silent_p.V14V|BRCA1_uc010cyz.2_5'UTR|BRCA1_uc010cza.2_Silent_p.V14V|BRCA1_uc010wht.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 14 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TAGCATTAATGACATTTTGTA 0.318 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 9 35 0 0 0 0 ITGA2B 3674 broad.mit.edu 37 17 42466667 42466667 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:42466667C>G uc002igt.1 - 1 207 c.175G>C c.(175-177)GAC>CAC p.D59H NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 59 Extracellular (Potential).|FG-GAP 1. axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCATGGCTGTCCTTGTGGAAG 0.587 NA 21 152 0 0 0 0 MYST2 11143 broad.mit.edu 37 17 47895239 47895239 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:47895239G>A uc002ipm.2 + 9 1147 c.1021G>A c.(1021-1023)GCT>ACT p.A341T MYST2_uc002ipl.1_Missense_Mutation_p.A311T|MYST2_uc010wma.1_Missense_Mutation_p.A202T|MYST2_uc010wmb.1_Missense_Mutation_p.A231T|MYST2_uc010wmc.1_Missense_Mutation_p.A172T|MYST2_uc010wmd.1_Missense_Mutation_p.A185T|MYST2_uc010wme.1_Missense_Mutation_p.A155T|MYST2_uc010wmf.1_Missense_Mutation_p.A6T|MYST2_uc010wmg.1_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 341 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TAAAACAATTGCTTTTGGCCG 0.393 NA 7 34 0 0 0 0 MTMR4 9110 broad.mit.edu 37 17 56581705 56581705 + Missense_Mutation SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:56581705T>C uc002iwj.2 - 13 1554 c.1444A>G c.(1444-1446)AAG>GAG p.K482E NM_004687 NP_004678 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 482 Myotubularin phosphatase. cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity skin(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGAACTGCTTAAGCAACTGA 0.517 NA 9 70 0 0 0 0 FDXR 2232 broad.mit.edu 37 17 72860034 72860034 + Silent SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:72860034C>A uc002jly.2 - 10 1245 c.1158G>T c.(1156-1158)CGG>CGT p.R386R FDXR_uc010wri.1_Silent_p.R334R|FDXR_uc010wrj.1_Silent_p.R384R|FDXR_uc002jlw.2_Silent_p.R143R|FDXR_uc002jlx.2_Silent_p.R392R|FDXR_uc002jmc.2_Silent_p.R358R|FDXR_uc010wrk.1_Silent_p.R417R|FDXR_uc010wrl.1_Silent_p.R429R|FDXR_uc002jma.2_Silent_p.R387R|FDXR_uc010wrm.1_Silent_p.R346R|FDXR_uc002jlz.2_Silent_p.R378R|FDXR_uc002jmb.2_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 386 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) CATCCATAACCCGGCCCTCCA 0.577 NA 53 136 1.96e-22 2.28e-22 1 0 OTOP2 92736 broad.mit.edu 37 17 72923807 72923807 + Missense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:72923807C>A uc010wrp.1 + 6 646 c.557C>A c.(556-558)GCG>GAG p.A186E OTOP2_uc002jmf.1_3'UTR NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 186 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) ATCTGGATGGCGGCCGTGGTG 0.577 NA 10 31 1.59e-06 1.75e-06 1 0 UBE2O 63893 broad.mit.edu 37 17 74392380 74392380 + Nonsense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr17:74392380C>A uc002jrm.3 - 14 2703 c.2638G>T c.(2638-2640)GAA>TAA p.E880* UBE2O_uc002jrn.3_Nonsense_Mutation_p.E880*|UBE2O_uc002jrl.3_Nonsense_Mutation_p.E484* NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 880 Potential. ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GGCACTGCTTCCATCTTCTCC 0.567 NA 59 136 4.96e-44 5.86e-44 1 0 ZNF521 25925 broad.mit.edu 37 18 22804524 22804524 + Nonsense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr18:22804524G>A uc002kvk.2 - 4 3605 c.3358C>T c.(3358-3360)CAG>TAG p.Q1120* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Q1120*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Q900* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 1120 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTCTCATTCTGGCCCAAGCCT 0.552 NA T PAX5 ALL 4 26 0 0 0 0 LMNB2 84823 broad.mit.edu 37 19 2444428 2444428 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:2444428C>G uc002lvy.2 - 2 402 c.315G>C c.(313-315)AGG>AGC p.R105S LMNB2_uc002lwa.1_Missense_Mutation_p.R125S NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 105 Rod.|Coil 1B. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 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) CCAACTCTGCCCTCAGCTTCC 0.652 NA 5 21 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5455848 5455848 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:5455848C>G uc002mca.3 + 1 423 c.346C>G c.(346-348)CTG>GTG p.L116V NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 116 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) CTTTGCGGATCTGCCGGCGCT 0.672 NA 21 70 0 0 0 0 FCER2 2208 broad.mit.edu 37 19 7754154 7754154 + Silent SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:7754154C>A uc002mhn.2 - 11 1075 c.891G>T c.(889-891)GCG>GCT p.A297A FCER2_uc010xjs.1_Silent_p.A219A|FCER2_uc010xjt.1_Silent_p.A219A|FCER2_uc002mhm.2_Silent_p.A297A NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 297 Extracellular (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 CCATGGACTCCGCGGAACCTT 0.677 NA 7 21 0.00198382 0.00207907 1 0 MUC16 94025 broad.mit.edu 37 19 9006359 9006359 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:9006359C>G uc002mkp.2 - 45 39863 c.39659G>C c.(39658-39660)AGA>ACA p.R13220T MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R37T|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13222 SEA 8.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAAGGTCAGTCTGCAGCCAGA 0.512 NA 16 56 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9065156 9065156 + Silent SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:9065156T>C uc002mkp.2 - 3 22494 c.22290A>G c.(22288-22290)CAA>CAG p.Q7430Q NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7432 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TAGTCTTCACTTGGCCTGGTG 0.488 NA 13 31 0 0 0 0 ZNF627 199692 broad.mit.edu 37 19 11727528 11727528 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:11727528C>T uc002msk.2 + 4 418 c.210C>T c.(208-210)CTC>CTT p.L70L ZNF627_uc010dyf.2_5'UTR NM_145295 NP_660338 Q7L945 ZN627_HUMAN zinc finger protein 627 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CAGAGAGACTCTGTGAAAGTA 0.313 NA 6 30 0 0 0 0 PKN1 5585 broad.mit.edu 37 19 14582517 14582517 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:14582517C>T uc002myp.2 + 22 2918 c.2750C>T c.(2749-2751)CCG>CTG p.P917L PKN1_uc002myq.2_Missense_Mutation_p.P923L|PKN1_uc002myr.2_Missense_Mutation_p.P257L NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 917 AGC-kinase C-terminal. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 ACACTGAGCCCGCCCCGCGAC 0.652 NA 3 16 0 0 0 0 EPS15L1 58513 broad.mit.edu 37 19 16528779 16528779 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:16528779C>T uc002ndz.1 - 11 1093 c.1087G>A c.(1087-1089)GAG>AAG p.E363K EPS15L1_uc002ndx.2_Missense_Mutation_p.E363K|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.E253K|EPS15L1_uc010xpf.1_Missense_Mutation_p.E266K|EPS15L1_uc002nea.1_Missense_Mutation_p.E363K|EPS15L1_uc010eah.1_Missense_Mutation_p.E363K|EPS15L1_uc002neb.1_Missense_Mutation_p.E209K|EPS15L1_uc002nec.1_Missense_Mutation_p.E363K NM_021235 NP_067058 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway 363 EH 3. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding ovary(3)|skin(2) 5 GTGCCTCTCTCCGAAGGCGGG 0.592 NA OREG0025334 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 50 0 0 0 0 CHERP 10523 broad.mit.edu 37 19 16640583 16640583 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:16640583C>T uc002nei.1 - 8 1079 c.1005G>A c.(1003-1005)CAG>CAA p.Q335Q MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 335 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 gctgctgttgctgctgctgct 0.547 NA 3 27 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22171649 22171649 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:22171649G>T uc002nqp.2 - 2 215 c.66C>A c.(64-66)GAC>GAA p.D22E ZNF208_uc002nqo.1_Missense_Mutation_p.D22E|ZNF208_uc002nqq.2_RNA NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GCTGTGCAGTGTCCAGGCATT 0.398 NA 26 135 6.33e-13 7.23e-13 1 0 ZNF681 148213 broad.mit.edu 37 19 23938239 23938239 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:23938239G>T uc002nrk.3 - 2 260 c.118C>A c.(118-120)CTG>ATG p.L40M ZNF681_uc002nrl.3_Intron|ZNF681_uc002nrj.3_Intron|ZNF681_uc002nrm.1_5'Flank NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 40 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AAGAAGACCAGGTTTCTGTAG 0.353 NA 16 111 0.000175454 0.0001878 1 0 ZNF527 84503 broad.mit.edu 37 19 37880679 37880679 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:37880679C>T uc010efk.1 + 5 1839 c.1728C>T c.(1726-1728)CAC>CAT p.H576H ZNF527_uc002ogf.3_Silent_p.H544H|ZNF527_uc010xtq.1_RNA NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 576 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGAGAATTCACGCTGGAGAAA 0.388 NA 16 50 0 0 0 0 GPR77 27202 broad.mit.edu 37 19 47844440 47844440 + Silent SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:47844440C>G uc010ela.1 + 2 602 c.384C>G c.(382-384)CTC>CTG p.L128L GPR77_uc002pgk.1_Silent_p.L128L NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 128 Helical; Name=3; (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) TGGCAGCTCTCAGTGCCGACC 0.682 NA 16 92 0 0 0 0 TPRX1 284355 broad.mit.edu 37 19 48305438 48305438 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:48305438C>T uc002php.1 - 2 901 c.830G>A c.(829-831)GGC>GAC p.G277D NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 277 Gly-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) TCTGCCTGGGCCTGGGATCTG 0.383 NA 8 8 0 0 0 0 TSKS 60385 broad.mit.edu 37 19 50266465 50266465 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:50266465C>G uc002ppm.2 - 1 51 c.40G>C c.(40-42)GAG>CAG p.E14Q NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 14 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) TCATGGATCTCTTTGGACTGC 0.657 NA 31 48 0 0 0 0 ZNF616 90317 broad.mit.edu 37 19 52619089 52619089 + Missense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:52619089C>A uc002pym.2 - 4 1611 c.1328G>T c.(1327-1329)GGC>GTC p.G443V ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 443 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) GTACACCTTGCCACATTTATT 0.388 NA 9 82 5.49e-09 6.2e-09 1 0 ZNF610 162963 broad.mit.edu 37 19 52869650 52869650 + Missense_Mutation SNP C C T rs149251185 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:52869650C>T uc002pyx.3 + 6 1425 c.1019C>T c.(1018-1020)GCG>GTG p.A340V ZNF610_uc002pyy.3_Missense_Mutation_p.A340V|ZNF610_uc002pyz.3_Missense_Mutation_p.A297V|ZNF610_uc002pza.2_Missense_Mutation_p.A340V NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGTCACACGGCGGAAAAACCT 0.393 NA 6 54 0 0 0 0 ZNF808 388558 broad.mit.edu 37 19 53058461 53058461 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:53058461G>A uc010epq.1 + 5 2469 c.2292G>A c.(2290-2292)AAG>AAA p.K764K ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 764 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AACCTTACAAGTGTAACGACT 0.443 NA 12 141 0 0 0 0 ZNF835 90485 broad.mit.edu 37 19 57175082 57175082 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr19:57175082C>T uc010ygo.1 - 2 1551 c.1551G>A c.(1549-1551)ACG>ACA p.T517T ZNF835_uc010ygn.1_Silent_p.T495T NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 TGTCTGCATGCGTCCTCTGGT 0.637 NA 51 116 0 0 0 0 MYT1L 23040 broad.mit.edu 37 2 1805525 1805525 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:1805525C>T uc002qxe.2 - 23 4046 c.3219G>A c.(3217-3219)AAG>AAA p.K1073K MYT1L_uc002qxd.2_Silent_p.K1071K|MYT1L_uc010ewk.2_Silent_p.K69K NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1073 Potential. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CATTTAGCTCCTTGATTTCTT 0.323 NA 17 75 0 0 0 0 APOB 338 broad.mit.edu 37 2 21224689 21224689 + Silent SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:21224689G>T uc002red.2 - 29 13733 c.13605C>A c.(13603-13605)ATC>ATA p.I4535I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4535 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTAACTCCGTGATGTATATCA 0.358 NA 46 69 5.2e-24 6.08e-24 1 0 CENPA 1058 broad.mit.edu 37 2 27016146 27016146 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:27016146G>A uc002rhr.2 + 4 605 c.422G>A c.(421-423)TGA>TAA p.*141* CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.*115* NM_001809 NP_001800 P49450 CENPA_HUMAN centromere protein A isoform a 141 CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGACTCGGCTGAGCTCCTGCA 0.557 NA 55 98 0 0 0 0 XDH 7498 broad.mit.edu 37 2 31572647 31572647 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:31572647C>T uc002rnv.1 - 26 2953 c.2874G>A c.(2872-2874)CAG>CAA p.Q958Q NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 958 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) CCTCAAGCTTCTGGTTGAAGT 0.507 NA 12 100 0 0 0 0 ALMS1 7840 broad.mit.edu 37 2 73678290 73678290 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:73678290G>C uc002sje.1 + 10 4750 c.4639G>C c.(4639-4641)GAG>CAG p.E1547Q ALMS1_uc002sjf.1_Missense_Mutation_p.E1503Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E933Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E933Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1545 22.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AATACCTGAAGAGGCTCTCAG 0.473 NA 24 112 0 0 0 0 DCTN1 1639 broad.mit.edu 37 2 74593384 74593384 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:74593384C>G uc002skx.2 - 23 3058 c.2747G>C c.(2746-2748)CGG>CCG p.R916P SLC4A5_uc002skl.2_5'Flank|DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.R782P|DCTN1_uc002sku.2_Missense_Mutation_p.R782P|DCTN1_uc002skw.1_Missense_Mutation_p.R892P|DCTN1_uc010ffd.2_Missense_Mutation_p.R896P|DCTN1_uc002sky.2_Missense_Mutation_p.R879P NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 916 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 GCTGGGGGGCCGCTCTGCATC 0.562 NA 30 91 0 0 0 0 WDR54 84058 broad.mit.edu 37 2 74652067 74652067 + Silent SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:74652067A>T uc002slb.2 + 7 660 c.600A>T c.(598-600)CCA>CCT p.P200P NM_032118 NP_115494 Q9H977 WDR54_HUMAN WD repeat domain 54 200 WD 2. 0 GGTCAGGGCCAGAATTCACAT 0.522 NA 29 103 0 0 0 0 REG3A 5068 broad.mit.edu 37 2 79385808 79385808 + Missense_Mutation SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:79385808A>T uc002sod.1 - 2 419 c.164T>A c.(163-165)TTT>TAT p.F55Y REG3A_uc002soe.1_Missense_Mutation_p.F55Y|REG3A_uc002sof.1_Missense_Mutation_p.F55Y NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 55 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TGGTGACAAAAACAAGGCATA 0.552 NA 21 45 0 0 0 0 PTCD3 55037 broad.mit.edu 37 2 86344259 86344259 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:86344259G>A uc002sqw.2 + 6 457 c.391G>A c.(391-393)GAC>AAC p.D131N PTCD3_uc010ytc.1_RNA NM_017952 NP_060422 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 precursor 131 mitochondrion protein binding ovary(1) 1 TTTTCAGAAGGACATAGCTGA 0.313 NA 14 28 0 0 0 0 SMYD1 150572 broad.mit.edu 37 2 88405860 88405860 + Missense_Mutation SNP G G A rs114851602 byFrequency TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:88405860G>A uc002ssr.2 + 8 1000 c.998G>A c.(997-999)CGG>CAG p.R333Q SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R29Q NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 AAATTATGCCGGGAGTGCCTG 0.522 NA 8 41 0 0 0 0 TRIM43 129868 broad.mit.edu 37 2 96260835 96260835 + Missense_Mutation SNP A A G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:96260835A>G uc002suv.2 + 3 585 c.449A>G c.(448-450)AAG>AGG p.K150R NM_138800 NP_620155 Q96BQ3 TRI43_HUMAN tripartite motif-containing 43 150 Potential. intracellular zinc ion binding ovary(1) 1 TTATGGAAAAAGATTCAAGAA 0.403 NA 28 36 0 0 0 0 RANBP2 5903 broad.mit.edu 37 2 109392196 109392196 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:109392196G>C uc002tem.3 + 24 8427 c.8301G>C c.(8299-8301)CAG>CAC p.Q2767H NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2767 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AGAAATCTCAGACAGAAGAAA 0.323 NA 14 83 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125504962 125504962 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:125504962G>T uc002tno.2 + 14 2595 c.2231G>T c.(2230-2232)TGG>TTG p.W744L CNTNAP5_uc010flu.2_Missense_Mutation_p.W745L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 744 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AAGGATGAATGGTAATGAGAA 0.458 NA 19 88 2.89e-11 3.28e-11 1 0 LRP1B 53353 broad.mit.edu 37 2 141751681 141751681 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:141751681G>A uc002tvj.1 - 16 3499 c.2527C>T c.(2527-2529)CAC>TAC p.H843Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 843 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTACATATGTGAGGTAGTGCT 0.408 NA TSP Lung(27;0.18) 12 38 0 0 0 0 MAP1D 254042 broad.mit.edu 37 2 172926266 172926266 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:172926266C>T uc002uhk.2 + 2 154 c.81C>T c.(79-81)TAC>TAT p.Y27Y MAP1D_uc010zdw.1_5'UTR NM_199227 NP_954697 Q6UB28 AMP1D_HUMAN methionine aminopeptidase 1D precursor 27 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) ATCATATCTACTTACACAAGC 0.363 NA 9 133 0 0 0 0 HOXD13 3239 broad.mit.edu 37 2 176958202 176958202 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:176958202G>A uc002ukf.1 + 1 671 c.584G>A c.(583-585)GGC>GAC p.G195D NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 195 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TTCTACCAGGGCTATACGAGC 0.622 NA T NUP98 AML* 14 66 0 0 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:178098960C>G uc002ulh.3 - 2 640 c.85G>C c.(85-87)GAT>CAT p.D29H NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 29 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) ACTCCAAGATCTATATCTTGC 0.363 NA Mis NSCLC|HNSCC HNSCC(56;0.16) 8 32 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196866401 196866401 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:196866401G>A uc002utj.3 - 11 1272 c.1171C>T c.(1171-1173)CCA>TCA p.P391S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 391 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATACTTACTGGGGGTTGTGCA 0.368 NA 15 41 0 0 0 0 CLK1 1195 broad.mit.edu 37 2 201722606 201722606 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:201722606G>A uc002uwe.2 - 7 848 c.667C>T c.(667-669)CGC>TGC p.R223C CLK1_uc002uwd.2_Missense_Mutation_p.R46C|CLK1_uc010zhi.1_Missense_Mutation_p.R265C|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.R72C|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 223 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 TGGACACAGCGGCTACAAACA 0.353 NA 8 139 0 0 0 0 KIAA1486 57624 broad.mit.edu 37 2 226447464 226447464 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:226447464G>T uc002voe.2 + 4 1506 c.1331G>T c.(1330-1332)AGG>ATG p.R444M KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Missense_Mutation_p.R214M NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 444 Pro-rich. ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGCATGGGGAGGTCCCTGACT 0.637 NA 8 42 1.07e-07 1.2e-07 1 0 DIS3L2 129563 broad.mit.edu 37 2 233201320 233201320 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:233201320G>A uc010fxz.2 + 21 2914 c.2638G>A c.(2638-2640)GAG>AAG p.E880K DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 880 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CGGTGAGCCCGAGGACTCAAG 0.557 NA 3 7 0 0 0 0 ING5 84289 broad.mit.edu 37 2 242650891 242650891 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:242650891C>T uc002wcd.2 + 4 401 c.376C>T c.(376-378)CGA>TGA p.R126* ING5_uc002wcc.1_Nonsense_Mutation_p.R126* NM_032329 NP_115705 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 126 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) CTCCGGAGGGCGAGGGTTAAA 0.398 NA 17 46 0 0 0 0 FLRT3 23767 broad.mit.edu 37 20 14306666 14306666 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:14306666C>G uc002wov.1 - 3 1954 c.1487G>C c.(1486-1488)TGT>TCT p.C496S MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.C496S NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 496 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) AGTCTCAATACAAACAGGAGT 0.448 NA 10 77 0 0 0 0 DNMT3B 1789 broad.mit.edu 37 20 31374312 31374312 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:31374312G>A uc002wyc.2 + 5 632 c.311G>A c.(310-312)CGA>CAA p.R104Q DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.R104Q|DNMT3B_uc002wye.2_Missense_Mutation_p.R104Q|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Intron|DNMT3B_uc010zua.1_Intron|DNMT3B_uc002wyf.2_Missense_Mutation_p.R116Q NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 104 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TTCTAGGTCCGAACTCGAAAT 0.627 NA 3 30 0 0 0 0 C20orf71 128861 broad.mit.edu 37 20 31811751 31811751 + Missense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:31811751C>A uc002wyr.2 + 2 470 c.262C>A c.(262-264)CAG>AAG p.Q88K C20orf71_uc002wys.2_Missense_Mutation_p.Q88K NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 88 Poly-Gln. extracellular region lipid binding ovary(1)|skin(1) 2 GAAACACCAGCAGCAGCAAGA 0.567 NA 20 33 1.26e-06 1.4e-06 1 0 RALGAPB 57148 broad.mit.edu 37 20 37150265 37150265 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:37150265G>C uc002xiw.2 + 10 1800 c.1543G>C c.(1543-1545)GAG>CAG p.E515Q RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.E515Q|RALGAPB_uc002xiy.1_Missense_Mutation_p.E515Q|RALGAPB_uc002xiz.2_Missense_Mutation_p.E293Q|RALGAPB_uc002xja.1_Missense_Mutation_p.E242Q NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 515 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 AGGAAGAGCTGAGGCTTGTGG 0.413 NA 16 98 0 0 0 0 ZNF334 55713 broad.mit.edu 37 20 45130768 45130768 + Missense_Mutation SNP G G A rs141823361 byFrequency TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:45130768G>A uc002xsc.2 - 5 1394 c.1210C>T c.(1210-1212)CCC>TCC p.P404S ZNF334_uc002xsa.2_Missense_Mutation_p.P427S|ZNF334_uc002xsb.2_Missense_Mutation_p.P366S|ZNF334_uc002xsd.2_Missense_Mutation_p.P366S|ZNF334_uc010ghl.2_Missense_Mutation_p.P403S NM_018102 NP_060572 Q9HCZ1 ZN334_HUMAN zinc finger protein 334 isoform a 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) CATTCATAGGGTTTTTCCCCT 0.438 NA 28 128 0 0 0 0 LAMA5 3911 broad.mit.edu 37 20 60885489 60885489 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr20:60885489C>G uc002ycq.2 - 76 10653 c.10586G>C c.(10585-10587)GGA>GCA p.G3529A NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3529 Laminin G-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTGATAACTCCCCCGCTGCC 0.692 NA 4 36 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 11012916 11012916 + Splice_Site SNP C C A rs4041777 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr21:11012916C>A uc002yis.1 - 9 c.1704_splice c.e9+1 P56180 TPTE_HUMAN Homo sapiens putative tyrosine phosphatase mRNA, complete cds. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCAAATTTTACCTAGCTTTTT 0.299 NA 4 15 0.00024832 0.000264664 1 0 IGSF5 150084 broad.mit.edu 37 21 41142937 41142937 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr21:41142937C>T uc002yyo.2 + 4 616 c.513C>T c.(511-513)CTC>CTT p.L171L NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 171 Ig-like V-type 2.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) GGACCCGGCTCCCGGATATTT 0.502 NA 21 32 0 0 0 0 C21orf33 8209 broad.mit.edu 37 21 45563136 45563136 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr21:45563136G>C uc002zec.3 + 6 657 c.571G>C c.(571-573)GAG>CAG p.E191Q C21orf33_uc002zed.3_Missense_Mutation_p.E160Q NM_004649 NP_004640 P30042 ES1_HUMAN es1 protein isoform Ia precursor 191 mitochondrion ovary(1) 1 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) CAGAGGCGTCGAGGTGACTGT 0.622 NA 11 17 0 0 0 0 KLHL22 84861 broad.mit.edu 37 22 20843396 20843396 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr22:20843396C>T uc002zsl.1 - 2 212 c.103G>A c.(103-105)GCT>ACT p.A35T KLHL22_uc011ahr.1_5'UTR|KLHL22_uc002zsm.1_Missense_Mutation_p.A35T NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 35 cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) CGGAGCAGAGCCTGGGAGTGC 0.627 NA 13 41 0 0 0 0 PATZ1 23598 broad.mit.edu 37 22 31740836 31740836 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr22:31740836G>A uc003akq.2 - 1 1414 c.753C>T c.(751-753)TTC>TTT p.F251F PATZ1_uc003akp.2_Silent_p.F251F|PATZ1_uc003akr.2_Silent_p.F251F|PATZ1_uc003aks.2_Silent_p.F251F|uc003akt.2_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 251 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) soft_tissue(2) 2 CCACACTGGGGAATGGGGAAG 0.647 NA 3 26 0 0 0 0 CELSR1 9620 broad.mit.edu 37 22 46859643 46859643 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr22:46859643C>T uc003bhw.1 - 2 4144 c.4144G>A c.(4144-4146)GAG>AAG p.E1382K NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1382 Extracellular (Potential).|EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TAGCCGCCCTCGCGGCTGCGG 0.687 NA 3 3 0 0 0 0 TTLL3 26140 broad.mit.edu 37 3 9859377 9859377 + Missense_Mutation SNP G G C rs73116112 by1000genomes TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:9859377G>C uc003btg.2 + 5 580 c.364G>C c.(364-366)GAT>CAT p.D122H ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.D122H|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.D58H|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.D58H|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 122 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TGATGAGGTTGATGCCAACTC 0.552 NA 6 117 0 0 0 0 EPHA6 285220 broad.mit.edu 37 3 96706569 96706569 + Missense_Mutation SNP T T A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:96706569T>A uc010how.1 + 3 889 c.846T>A c.(844-846)TTT>TTA p.F282L EPHA6_uc003drp.1_Missense_Mutation_p.F282L NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 187 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 ATCTGGCTTTTCAAGACATTG 0.453 NA 32 324 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132435688 132435688 + Missense_Mutation SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:132435688T>C uc003epe.1 - 4 813 c.736A>G c.(736-738)ATG>GTG p.M246V NPHP3_uc003epf.1_Missense_Mutation_p.M1V NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 246 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 AGCTGGATCATGCTTCCTATG 0.458 NA 27 101 0 0 0 0 SLC9A9 285195 broad.mit.edu 37 3 143082405 143082405 + Nonsense_Mutation SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:143082405C>A uc003evn.2 - 14 1707 c.1525G>T c.(1525-1527)GAA>TAA p.E509* NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 509 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TTATTTGCTTCCTGGGGAGAA 0.318 NA 7 86 5.18e-06 5.67e-06 1 0 PLOD2 5352 broad.mit.edu 37 3 145809656 145809656 + Silent SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:145809656G>T uc003evs.1 - 8 1316 c.810C>A c.(808-810)CCC>CCA p.P270P PLOD2_uc011bnm.1_Silent_p.P215P|PLOD2_uc003evr.1_Silent_p.P270P NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 270 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TCCATGAATTGGGTACATAGT 0.373 NA 6 69 0.00116845 0.00123227 1 0 OTOL1 131149 broad.mit.edu 37 3 161221227 161221227 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:161221227G>A uc011bpb.1 + 4 931 c.931G>A c.(931-933)GGT>AGT p.G311S NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN otolin-1 precursor 311 Collagen-like 3. collagen 0 TGGGCCGAAGGGTGACATTGG 0.597 NA 17 19 0 0 0 0 SI 6476 broad.mit.edu 37 3 164773033 164773033 + Silent SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:164773033T>G uc003fei.2 - 13 1523 c.1461A>C c.(1459-1461)GCA>GCC p.A487A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 487 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGCATTCATTTGCCCACCAAT 0.343 NA HNSCC(35;0.089) 60 65 0 0 0 0 SI 6476 broad.mit.edu 37 3 164783161 164783161 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:164783161C>T uc003fei.2 - 7 757 c.695G>A c.(694-696)CGT>CAT p.R232H NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 232 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACTTGGAAGACGGGTTGAGAT 0.353 NA HNSCC(35;0.089) 8 55 0 0 0 0 SKIL 6498 broad.mit.edu 37 3 170099035 170099035 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:170099035G>C uc003fgu.2 + 3 1814 c.1102G>C c.(1102-1104)GAT>CAT p.D368H SKIL_uc011bps.1_Missense_Mutation_p.D348H|SKIL_uc003fgv.2_Missense_Mutation_p.D368H|SKIL_uc003fgw.2_Missense_Mutation_p.D368H NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 368 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TCTGCAGACAGATGCACCATC 0.289 NA 9 145 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916836 178916836 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:178916836C>G uc003fjk.2 + 2 380 c.223C>G c.(223-225)CAA>GAA p.Q75E NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 75 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q75E(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAGTGTTACTCAAGAAGCAGA 0.348 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 49 134 0 0 0 0 EPHB3 2049 broad.mit.edu 37 3 184295735 184295735 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:184295735C>T uc003foz.2 + 8 2126 c.1689C>T c.(1687-1689)TCC>TCT p.S563S NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 563 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) TCGTGGGCTCCGCTACAGCTG 0.642 NA 12 93 0 0 0 0 ETV5 2119 broad.mit.edu 37 3 185774946 185774946 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr3:185774946G>A uc003fpz.2 - 11 1374 c.1127C>T c.(1126-1128)ACC>ATC p.T376I ETV5_uc003fpy.2_Missense_Mutation_p.T418I NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 376 ETS. cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ATCAAGAAGGGTGACCAGGAA 0.552 NA T TMPRSS2|SCL45A3 Prostate 22 73 0 0 0 0 CTBP1 1487 broad.mit.edu 37 4 1222118 1222119 + Missense_Mutation DNP GC GC AA TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:1222118_1222119GC>AA uc003gcv.1 - 3 373_374 c.208_209GC>TT c.(208-210)GCT>TTT p.A70F CTBP1_uc003gct.1_Missense_Mutation_p.A51F|CTBP1_uc003gcu.1_Missense_Mutation_p.A59F NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 70 Interaction with GLIS2 1 (By similarity). interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) GGCCCCCACAGCCTCGTTCAGG 0.619 NA 7 54 0 0 0 0 ADD1 118 broad.mit.edu 37 4 2883674 2883674 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:2883674G>A uc003gfr.2 + 3 433 c.245G>A c.(244-246)GGG>GAG p.G82E ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Missense_Mutation_p.G82E|ADD1_uc003gfo.2_Missense_Mutation_p.G82E|ADD1_uc003gfp.2_Missense_Mutation_p.G82E|ADD1_uc003gfq.2_Missense_Mutation_p.G82E|ADD1_uc003gfs.2_Missense_Mutation_p.G82E|ADD1_uc003gft.3_Missense_Mutation_p.G82E NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 82 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTTAAGAAGGGGAAGAACCCC 0.408 NA 10 74 0 0 0 0 NKX3-2 579 broad.mit.edu 37 4 13545814 13545814 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:13545814G>A uc003gmx.2 - 1 301 c.225C>T c.(223-225)GCC>GCT p.A75A NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 75 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCTGGTACCGGCAGGAGACG 0.662 NA 5 5 0 0 0 0 HSD17B13 345275 broad.mit.edu 37 4 88243866 88243866 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:88243866C>G uc003hqo.2 - 1 191 c.128G>C c.(127-129)GGA>GCA p.G43A HSD17B13_uc010ikk.2_Missense_Mutation_p.G43A NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 43 NAD (By similarity). extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) ATGCCCAGCTCCAGTAATGAG 0.423 NA 9 98 0 0 0 0 BANK1 55024 broad.mit.edu 37 4 102984276 102984276 + Silent SNP A A G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:102984276A>G uc003hvy.3 + 13 2467 c.2193A>G c.(2191-2193)CCA>CCG p.P731P BANK1_uc003hvx.3_Silent_p.P716P|BANK1_uc010ill.2_Silent_p.P598P|BANK1_uc003hvz.3_Silent_p.P701P NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 731 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GGAAAAGGCCAGAAGAAGAAA 0.254 NA 6 34 0 0 0 0 GSTCD 79807 broad.mit.edu 37 4 106638773 106638773 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:106638773G>A uc003hxz.3 + 2 75 c.3G>A c.(1-3)ATG>ATA p.M1I GSTCD_uc003hxx.2_Missense_Mutation_p.M1I|GSTCD_uc003hxy.3_Missense_Mutation_p.M1I|GSTCD_uc011cfb.1_Intron|GSTCD_uc010ils.1_Missense_Mutation_p.M1I NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain 1 cytoplasm rRNA methyltransferase activity breast(1)|central_nervous_system(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) AGAAGAAAATGAAAGCCATAA 0.313 NA 7 34 0 0 0 0 SCLT1 132320 broad.mit.edu 37 4 129886441 129886441 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:129886441C>T uc003igp.2 - 11 1316 c.810G>A c.(808-810)GAG>GAA p.E270E SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 270 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CTGATGCTTCCTCTCTTCCAT 0.343 NA 9 29 0 0 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028206 170028206 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr4:170028206C>T uc003isa.1 - 11 2625 c.2290G>A c.(2290-2292)GGA>AGA p.G764R NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 764 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TGGCCACCTCCTGGTGGCAGT 0.672 NA 9 21 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461296 5461296 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:5461296G>A uc003jdm.3 + 13 2071 c.1849G>A c.(1849-1851)GAT>AAT p.D617N NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 617 ovary(1)|central_nervous_system(1) 2 TGACTCAGGTGATGGAATGGA 0.418 NA 25 49 0 0 0 0 PAPD7 11044 broad.mit.edu 37 5 6749698 6749698 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:6749698C>T uc003jdx.1 + 9 994 c.865C>T c.(865-867)CAG>TAG p.Q289* PAPD7_uc011cmn.1_Nonsense_Mutation_p.Q280*|PAPD7_uc010itl.1_Nonsense_Mutation_p.Q109* NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 289 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 CAAAGTAACTCAGGAGGTGAT 0.488 NA 20 138 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13737360 13737360 + Splice_Site SNP C C A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:13737360C>A uc003jfd.2 - 66 11497 c.11455_splice c.e66+1 p.V3819_splice DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ACCAAACTCACCAGGTCTGTA 0.403 NA Kartagener_syndrome 31 83 2.2e-25 2.59e-25 1 0 DNAH5 1767 broad.mit.edu 37 5 13850873 13850873 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:13850873G>A uc003jfd.2 - 31 5044 c.5002C>T c.(5002-5004)CGG>TGG p.R1668W NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1668 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCATGTGCCCGAGTCATGATC 0.468 NA Kartagener_syndrome 17 79 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23526576 23526577 + Nonsense_Mutation DNP CC CC AA TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:23526576_23526577CC>AA uc003jgo.2 + 11 1561_1562 c.1379_1380CC>AA c.(1378-1380)TCC>TAA p.S460* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 460 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AAAGAAAGGTCCAAACTCTTGA 0.465 NA HNSCC(3;0.000094) 4 21 0 0 0 0 TTC23L 153657 broad.mit.edu 37 5 34863073 34863073 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:34863073G>A uc003jiu.2 + 5 553 c.450G>A c.(448-450)ACG>ACA p.T150T TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 150 binding central_nervous_system(1) 1 AGGCAAATACGACCTCAAATA 0.512 NA 14 38 0 0 0 0 PRLR 5618 broad.mit.edu 37 5 35070259 35070259 + Missense_Mutation SNP A A C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:35070259A>C uc003jjm.2 - 7 1182 c.652T>G c.(652-654)TGG>GGG p.W218G PRLR_uc003jjg.1_Missense_Mutation_p.W218G|PRLR_uc003jjh.1_Missense_Mutation_p.W218G|PRLR_uc003jji.1_Missense_Mutation_p.W147G|PRLR_uc003jjj.1_Missense_Mutation_p.W218G|PRLR_uc003jjk.1_Missense_Mutation_p.W147G|PRLR_uc003jjl.3_Missense_Mutation_p.W117G|PRLR_uc010iuw.1_Missense_Mutation_p.W147G NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 218 Fibronectin type-III 2.|WSXWS motif.|Extracellular (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCTGGACTCCATGCACTCCAG 0.433 NA 12 25 0 0 0 0 C5orf42 65250 broad.mit.edu 37 5 37157808 37157808 + Missense_Mutation SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:37157808T>C uc011cpa.1 - 40 8152 c.7921A>G c.(7921-7923)ACT>GCT p.T2641A C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.T1159A|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.T1734A NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2641 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACAGCATTAGTAACTGAAGCT 0.328 NA 25 41 0 0 0 0 WDR70 55100 broad.mit.edu 37 5 37379491 37379491 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:37379491G>A uc003jkv.2 + 1 80 c.22G>A c.(22-24)GAA>AAA p.E8K WDR70_uc010iva.1_Missense_Mutation_p.E8K NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 8 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGGCCCAGCGAAGGTGGGTT 0.642 NA 49 123 0 0 0 0 CARD6 84674 broad.mit.edu 37 5 40854255 40854255 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:40854255C>G uc003jmg.2 + 3 2896 c.2821C>G c.(2821-2823)CAG>GAG p.Q941E NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 941 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CAAGAGCTCTCAGTTCAAATC 0.493 NA 23 145 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82832967 82832967 + Missense_Mutation SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:82832967A>T uc003kii.3 + 8 4501 c.4145A>T c.(4144-4146)GAC>GTC p.D1382V VCAN_uc003kij.3_Missense_Mutation_p.D395V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D46V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1382 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) ATTGAAATAGACCTATACCAC 0.343 NA 7 25 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89924449 89924449 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:89924449C>G uc003kju.2 + 8 1405 c.1309C>G c.(1309-1311)CGG>GGG p.R437G GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 437 Extracellular (Potential). LTR -> VTP (in Ref. 2; AAL30811). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGTGTTGACACGGAACAGCAC 0.423 NA 22 24 0 0 0 0 SRP19 6728 broad.mit.edu 37 5 112227799 112227799 + Missense_Mutation SNP A A G rs712665 by1000genomes TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:112227799A>G uc011cvv.1 + 4 793 c.538A>G c.(538-540)AGT>GGT p.S180G SRP19_uc011cvu.1_Missense_Mutation_p.S165G|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron P09132 SRP19_HUMAN SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2; Error:Variant_position_missing_in_P09132_after_alignment response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding 0 all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156) Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104) TTTAGAAAATAGTACCACATG 0.328 NA 4 34 0 0 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250371 140250371 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:140250371G>A uc003lia.2 + 1 2541 c.1683G>A c.(1681-1683)GCG>GCA p.A561A 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_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.A561A NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 561 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGACAACGCGCCGGCACTGC 0.682 NA 21 95 0 0 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590194 140590194 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:140590194G>T uc003liz.2 + 1 1904 c.1715G>T c.(1714-1716)TGC>TTC p.C572F PCDHB12_uc011dak.1_Missense_Mutation_p.C235F NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 572 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGCGCCCTGCACCGAGCTG 0.701 NA 32 46 1.7e-12 1.94e-12 1 0 CLINT1 9685 broad.mit.edu 37 5 157240172 157240172 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr5:157240172G>A uc003lxj.1 - 5 606 c.416C>T c.(415-417)GCC>GTC p.A139V CLINT1_uc003lxi.1_Missense_Mutation_p.A121V|CLINT1_uc011ddv.1_Missense_Mutation_p.A139V NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 139 ENTH. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCATCCTGGGCAAATTCAAC 0.413 NA 13 45 0 0 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122522 12122522 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:12122522G>A uc003nac.2 + 4 2673 c.2494G>A c.(2494-2496)GAC>AAC p.D832N HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 832 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ACCTTCACTTGACTGTTTACC 0.428 NA 7 127 0 0 0 0 OR2W1 26692 broad.mit.edu 37 6 29012395 29012395 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:29012395C>T uc003nlw.2 - 1 558 c.558G>A c.(556-558)AAG>AAA p.K186K NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CACAAGCTATCTTGACCAGAG 0.403 NA 8 96 0 0 0 0 CYP21A2 1589 broad.mit.edu 37 6 31975129 31975129 + Silent SNP T T C rs113153064 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:31975129T>C uc010jtp.2 + 8 940 c.822T>C c.(820-822)TCT>TCC p.S274S CYP21A2_uc011dpb.1_Silent_p.S244S P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 273 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 AAGAGGGCTCTGGACAGCTCC 0.607 NA 8 97 0 0 0 0 DEFB112 245915 broad.mit.edu 37 6 50011492 50011492 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:50011492G>A uc011dws.1 - 2 138 c.138C>T c.(136-138)ATC>ATT p.I46I NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 46 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) TACTAAAGGTGATATGGTGCC 0.403 NA 8 51 0 0 0 0 PHF3 23469 broad.mit.edu 37 6 64394278 64394278 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:64394278C>T uc003pep.1 + 3 681 c.655C>T c.(655-657)CAT>TAT p.H219Y PHF3_uc010kaf.1_Missense_Mutation_p.H219Y|PHF3_uc003pem.2_Missense_Mutation_p.H172Y|PHF3_uc010kag.1_Missense_Mutation_p.H131Y|PHF3_uc010kah.1_Missense_Mutation_p.H33Y|PHF3_uc003pen.2_Missense_Mutation_p.H131Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.H219Y NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 219 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) GTCTTCAAGTCATTCTTCAGT 0.393 NA 23 89 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90459426 90459426 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:90459426C>T uc003pnn.1 - 25 3567 c.3451G>A c.(3451-3453)GAT>AAT p.D1151N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1151 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTAATTCATCTAAAATAATC 0.353 NA 22 42 0 0 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671570 112671570 + Silent SNP T T C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:112671570T>C uc003pvx.1 + 3 972 c.660T>C c.(658-660)TTT>TTC p.F220F NM_001013734 NP_001013756 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 220 B30.2/SPRY. zinc ion binding 0 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) AAATCCAGTTTTTTGATGTTG 0.458 NA 12 55 0 0 0 0 PDE10A 10846 broad.mit.edu 37 6 165848793 165848793 + Missense_Mutation SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr6:165848793G>T uc003qun.2 - 7 680 c.439C>A c.(439-441)CAG>AAG p.Q147K PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.Q77K|PDE10A_uc003quo.2_Missense_Mutation_p.Q157K NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 147 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTGGTGCCCTGAGTGATGGGC 0.483 NA 12 23 2.81e-09 3.18e-09 1 0 CCT6A 908 broad.mit.edu 37 7 56130445 56130445 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:56130445C>G uc003trl.1 + 13 1684 c.1520C>G c.(1519-1521)TCC>TGC p.S507C PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.S462C|CCT6A_uc011kcu.1_Missense_Mutation_p.S476C|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 507 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTCTTCACTCCTGGTAAGTT 0.378 NA 22 40 0 0 0 0 TAF6 6878 broad.mit.edu 37 7 99711749 99711749 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:99711749G>A uc003uti.2 - 2 165 c.84C>T c.(82-84)ATC>ATT p.I28I TAF6_uc003utg.2_5'Flank|TAF6_uc003uth.2_Silent_p.I85I|TAF6_uc003utk.2_Silent_p.I28I|TAF6_uc011kji.1_Silent_p.I65I|TAF6_uc003utj.2_Silent_p.I28I|TAF6_uc003utl.2_Silent_p.I28I|TAF6_uc003utm.2_Silent_p.I28I|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 28 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAATCTGGGCGATGCCCATGG 0.567 NA 21 111 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101840399 101840399 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:101840399G>A uc003uyx.3 + 15 1746 c.1708G>A c.(1708-1710)GGA>AGA p.G570R CUX1_uc003uys.3_Missense_Mutation_p.G581R|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 570 CUT 1. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GCACAATATCGGACAACGTAT 0.542 NA 58 100 0 0 0 0 GRM8 2918 broad.mit.edu 37 7 126173489 126173489 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:126173489G>A uc003vlr.2 - 8 2258 c.1947C>T c.(1945-1947)TCC>TCT p.S649S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.S649S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 649 Helical; Name=3; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CCCGTCGGAAGGAGCATATGA 0.448 NA HNSCC(24;0.065) 6 68 0 0 0 0 LRGUK 136332 broad.mit.edu 37 7 133948645 133948645 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:133948645G>A uc003vrm.1 + 20 2412 c.2396G>A c.(2395-2397)AGA>AAA p.R799K NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 799 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 CACCAACACAGACAACACTCG 0.458 NA 10 56 0 0 0 0 ZNF282 8427 broad.mit.edu 37 7 148895756 148895756 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:148895756G>A uc003wfm.2 + 2 602 c.497G>A c.(496-498)AGG>AAG p.R166K ZNF282_uc011kun.1_Missense_Mutation_p.R166K|ZNF282_uc003wfn.2_Missense_Mutation_p.R106K|ZNF282_uc003wfo.2_Missense_Mutation_p.R106K NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 166 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CTGCTGCAGAGGCGGCTGGAG 0.637 NA 15 60 0 0 0 0 SLC4A2 6522 broad.mit.edu 37 7 150771922 150771922 + Missense_Mutation SNP T T A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:150771922T>A uc003wit.3 + 19 3297 c.3041T>A c.(3040-3042)ATC>AAC p.I1014N SLC4A2_uc011kve.1_Missense_Mutation_p.I1005N|SLC4A2_uc003wiu.3_Missense_Mutation_p.I1000N|SLC4A2_uc003wiv.3_Missense_Mutation_p.I208N|uc011kvf.1_3'UTR NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1014 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGACACAGATCACCACGTGA 0.602 NA 7 10 0 0 0 0 AGAP3 116988 broad.mit.edu 37 7 150817161 150817161 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr7:150817161G>A uc003wjg.1 + 8 1060 c.1057G>A c.(1057-1059)GAG>AAG p.E353K AGAP3_uc003wje.1_Missense_Mutation_p.E125K|AGAP3_uc003wjf.1_Missense_Mutation_p.E353K|AGAP3_uc010lpy.1_Intron|AGAP3_uc003wjh.1_Missense_Mutation_p.E533K|AGAP3_uc003wji.1_5'Flank NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 317 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GCTGCGCATCGAGACCATCGC 0.652 NA 26 21 0 0 0 0 FBXO25 26260 broad.mit.edu 37 8 381402 381402 + Nonsense_Mutation SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:381402A>T uc003wox.2 + 3 462 c.196A>T c.(196-198)AAA>TAA p.K66* FBXO25_uc003woy.2_Nonsense_Mutation_p.K66*|FBXO25_uc003woz.2_Missense_Mutation_p.K15N NM_183421 NP_904357 Q8TCJ0 FBX25_HUMAN F-box only protein 25 isoform 1 66 Interaction with beta-actin. nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity lung(1) 1 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) TGCATCGAAAAAAAGGAAAAA 0.249 NA 8 40 0 0 0 0 LOXL2 4017 broad.mit.edu 37 8 23179757 23179757 + Silent SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:23179757T>G uc003xdh.1 - 7 1527 c.1188A>C c.(1186-1188)ACA>ACC p.T396T LOXL2_uc010lty.1_5'Flank NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 396 SRCR 3. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) TCTCATTGCCTGTGCACTGGA 0.517 NA 25 33 0 0 0 0 ANK1 286 broad.mit.edu 37 8 41543691 41543691 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:41543691G>A uc003xok.2 - 36 4453 c.4369C>T c.(4369-4371)CGT>TGT p.R1457C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.R773C|ANK1_uc003xoi.2_Missense_Mutation_p.R1457C|ANK1_uc003xoj.2_Missense_Mutation_p.R1457C|ANK1_uc003xol.2_Missense_Mutation_p.R1457C|ANK1_uc003xom.2_Missense_Mutation_p.R1498C NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1457 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.R1457H(1) ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGGCCTTCACGGATGACCCAG 0.522 NA 7 54 0 0 0 0 CYP7A1 1581 broad.mit.edu 37 8 59407110 59407110 + Missense_Mutation SNP G G C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:59407110G>C uc003xtm.3 - 4 1057 c.994C>G c.(994-996)CCT>GCT p.P332A NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 332 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AAACAAATAGGATTGCCTTCC 0.373 NA Neonatal_Giant_Cell_Hepatitis 18 47 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 68934362 68934362 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:68934362G>A uc003xxv.1 + 4 455 c.428G>A c.(427-429)CGG>CAG p.R143Q PREX2_uc003xxu.1_Missense_Mutation_p.R143Q|PREX2_uc011lez.1_Missense_Mutation_p.R78Q NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 143 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AGAACAATCCGGACATTTCTT 0.328 NA 23 25 0 0 0 0 NCOA2 10499 broad.mit.edu 37 8 71069394 71069394 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:71069394G>A uc003xyn.1 - 11 1368 c.1206C>T c.(1204-1206)AGC>AGT p.S402S NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 402 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GATGGGCAGGGCTGTTAGAGC 0.478 NA T RUNXBP2 AML 6 27 0 0 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175721 118175721 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:118175721G>A uc003yoh.2 + 6 1011 c.781G>A c.(781-783)GCC>ACC p.A261T SLC30A8_uc010mcz.2_Missense_Mutation_p.A212T|SLC30A8_uc011lia.1_Missense_Mutation_p.A212T|SLC30A8_uc003yog.2_Missense_Mutation_p.A212T NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 261 Helical; (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCTGGTCTTGGCCAGCACCAT 0.398 NA 9 103 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121170405 121170405 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:121170405C>G uc003yox.2 + 3 390 c.125C>G c.(124-126)TCT>TGT p.S42C NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 42 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AATGTAATATCTCATGACAGT 0.343 NA 15 34 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133192492 133192492 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:133192492C>T uc003ytj.2 - 4 914 c.689G>A c.(688-690)CGC>CAC p.R230H KCNQ3_uc010mdt.2_Missense_Mutation_p.R230H NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 230 Helical; Voltage-sensor; Name=Segment S4; (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) CTGCAGGAAGCGCAGGCTTCG 0.587 NA 7 62 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139696689 139696689 + Silent SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr8:139696689G>A uc003yvd.2 - 39 3438 c.2991C>T c.(2989-2991)CTC>CTT p.L997L COL22A1_uc011ljo.1_Silent_p.L297L NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 997 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGTCCAGGGAGTCCAGGTG 0.493 NA HNSCC(7;0.00092) 16 129 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:21971186G>A uc003zpk.2 - 2 384 c.172C>T c.(172-174)CGA>TGA p.R58* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 58 ANK 2. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCCGCCACTCGGGCGCTGCCC 0.677 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 4 0 0 0 0 TAF1L 138474 broad.mit.edu 37 9 32630185 32630185 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:32630185G>A uc003zrg.1 - 1 5483 c.5393C>T c.(5392-5394)TCT>TTT p.S1798F NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1798 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCCACATCAGAGTCACTTCC 0.453 NA 12 49 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37537796 37537796 + Missense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:37537796C>G uc004aab.2 - 3 779 c.730G>C c.(730-732)GAA>CAA p.E244Q FBXO10_uc004aac.2_Missense_Mutation_p.E260Q|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 244 PbH1 2. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) TCACAGTTTTCCAGGACACAC 0.498 NA 5 32 0 0 0 0 WNK2 65268 broad.mit.edu 37 9 96021855 96021855 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:96021855C>T uc004ati.1 + 11 3025 c.3025C>T c.(3025-3027)CTT>TTT p.L1009F WNK2_uc011lud.1_Missense_Mutation_p.L1009F|WNK2_uc004atj.2_Missense_Mutation_p.L1009F|WNK2_uc004atk.2_Missense_Mutation_p.L646F|WNK2_uc010mrc.1_Missense_Mutation_p.L957F NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1009 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 CCAGCCCCACCTTCCTGAACA 0.687 NA 3 8 0 0 0 0 PTCH1 5727 broad.mit.edu 37 9 98242784 98242784 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:98242784C>T uc004avk.3 - 6 1021 c.833G>A c.(832-834)TGG>TAG p.W278* PTCH1_uc010mro.2_Nonsense_Mutation_p.W127*|PTCH1_uc010mrp.2_Nonsense_Mutation_p.W127*|PTCH1_uc010mrq.2_Nonsense_Mutation_p.W127*|PTCH1_uc004avl.3_Nonsense_Mutation_p.W127*|PTCH1_uc010mrr.2_Nonsense_Mutation_p.W212*|PTCH1_uc004avm.3_Nonsense_Mutation_p.W277*|PTCH1_uc010mrs.1_5'UTR|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 278 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.W278*(2) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CATTTCCTCCCAGCTGTCCAC 0.498 NA Basal_Cell_Nevus_syndrome 51 42 0 0 0 0 STX17 55014 broad.mit.edu 37 9 102677620 102677620 + Missense_Mutation SNP A A C TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:102677620A>C uc004bal.3 + 2 235 c.99A>C c.(97-99)AGA>AGC p.R33S STX17_uc004bak.2_Missense_Mutation_p.R33S|STX17_uc010msx.2_RNA|STX17_uc011lvd.1_RNA NM_017919 NP_060389 P56962 STX17_HUMAN syntaxin 17 33 Cytoplasmic (Potential). intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity large_intestine(1) 1 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AAAGGTTAAGAAAGCACCAGA 0.343 NA 16 34 0 0 0 0 SLC44A1 23446 broad.mit.edu 37 9 108110642 108110642 + Nonsense_Mutation SNP C C G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:108110642C>G uc004bcn.2 + 5 631 c.410C>G c.(409-411)TCA>TGA p.S137* SLC44A1_uc010mtk.1_Nonsense_Mutation_p.S137* NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 137 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TCAACAGGTTCAGCCCTATGT 0.353 NA 6 53 0 0 0 0 ZFP37 7539 broad.mit.edu 37 9 115818900 115818900 + Missense_Mutation SNP T T G rs144129779 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:115818900T>G uc004bgm.1 - 1 97 c.69A>C c.(67-69)GAA>GAC p.E23D ZFP37_uc011lwz.1_Missense_Mutation_p.E23D|ZFP37_uc011lxa.1_Missense_Mutation_p.E23D NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 23 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTTTGGTCGTTTCCGCACTTC 0.652 NA 18 116 0 0 0 0 COL27A1 85301 broad.mit.edu 37 9 116930469 116930469 + Missense_Mutation SNP G G A TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:116930469G>A uc011lxl.1 + 3 634 c.634G>A c.(634-636)GCT>ACT p.A212T COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.A62T NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 212 Laminin G-like.|TSP N-terminal. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GTTTGAAGGTGCTCTCTGCCA 0.582 NA 6 58 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123914854 123914854 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:123914854C>T uc004bkx.1 + 24 4086 c.4055C>T c.(4054-4056)TCG>TTG p.S1352L CEP110_uc004bla.1_Missense_Mutation_p.S800L|CEP110_uc010mvo.1_Missense_Mutation_p.S21L|CEP110_uc004blb.1_Missense_Mutation_p.S21L NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1352 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 AAGCGGCAGTCGGAGAAAGAA 0.383 NA 25 36 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139405241 139405241 + Silent SNP G G A rs115235667 by1000genomes TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:139405241G>A uc004chz.2 - 17 2604 c.2604C>T c.(2602-2604)GTC>GTT p.V868V NOTCH1_uc004cia.1_Silent_p.V98V NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 868 Extracellular (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTTGATGTCGACCTCACAGG 0.706 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 24 12 0 0 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766113 27766113 + Silent SNP G G T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:27766113G>T uc011mjy.1 + 1 1188 c.1101G>T c.(1099-1101)GTG>GTT p.V367V NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 ATAAGAAAGTGGGACTGTATA 0.418 NA 10 14 2.18e-05 2.37e-05 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973400 29973400 + Missense_Mutation SNP T T G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:29973400T>G uc004dby.2 + 11 2062 c.1554T>G c.(1552-1554)ATT>ATG p.I518M NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 518 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TGAGAGGAATTATGAACTACC 0.448 NA 27 9 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32305682 32305682 + Nonsense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:32305682C>T uc004dda.1 - 43 6498 c.6254G>A c.(6253-6255)TGG>TAG p.W2085* DMD_uc004dcw.2_Nonsense_Mutation_p.W741*|DMD_uc004dcx.2_Nonsense_Mutation_p.W744*|DMD_uc004dcz.2_Nonsense_Mutation_p.W1962*|DMD_uc004dcy.1_Nonsense_Mutation_p.W2081*|DMD_uc004ddb.1_Nonsense_Mutation_p.W2077*|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_RNA NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2085 Spectrin 14. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) AACTTTTTCCCATTGGAAATC 0.398 NA 28 19 0 0 0 0 UPRT 139596 broad.mit.edu 37 X 74494189 74494189 + Silent SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:74494189C>T uc004ecb.1 + 1 229 c.100C>T c.(100-102)CTG>TTG p.L34L UPRT_uc010nlu.1_Silent_p.L34L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L34L|UPRT_uc004ece.1_5'Flank NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 34 nucleoside metabolic process cytoplasm|nucleus 0 ACCTGGCGATCTGATCCTGGA 0.612 NA 4 16 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994922 140994922 + Missense_Mutation SNP C C T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:140994922C>T uc004fbt.2 + 4 2018 c.1732C>T c.(1732-1734)CAC>TAC p.H578Y MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 578 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTGTCTCCTCACTACTTTCC 0.582 NA HNSCC(15;0.026) 118 109 0 0 0 0 CXorf40A 91966 broad.mit.edu 37 X 148627337 148627337 + Missense_Mutation SNP G G A rs149793182 byFrequency TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:148627337G>A uc004fdb.2 + 4 433 c.161G>A c.(160-162)CGG>CAG p.R54Q CXorf40A_uc011mxm.1_Missense_Mutation_p.R54Q|CXorf40A_uc011mxn.1_Missense_Mutation_p.R54Q|CXorf40A_uc004fdd.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fde.1_Missense_Mutation_p.R54Q|CXorf40A_uc011mxo.1_Silent_p.A143A|CXorf40A_uc004fdg.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdf.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdh.2_Missense_Mutation_p.R54Q|CXorf40A_uc010nsy.2_Missense_Mutation_p.R54Q|CXorf40A_uc004fdi.2_Missense_Mutation_p.R71Q NM_178124 NP_835225 Q8TE69 CX04A_HUMAN chromosome X open reading frame 40 54 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GATGCCTGGCGGGAGCTGCTG 0.592 NA 12 17 0 0 0 0 G6PD 2539 broad.mit.edu 37 X 153760877 153760877 + Missense_Mutation SNP C C T rs137852325 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chrX:153760877C>T uc004fly.1 - 10 1305 c.1192G>A c.(1192-1194)GAG>AAG p.E398K G6PD_uc004flx.1_Missense_Mutation_p.E428K NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 398 E -> K (in Puerto Limon; class I). cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TACACGGCCTCGTTGGGCTGC 0.607 NA 15 37 0 0 0 0 LRP8 7804 broad.mit.edu 37 1 53746315 53746316 + Frame_Shift_Ins INS - - A rs146690956 TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr1:53746315_53746316insA uc001cvi.1 - 4 581_582 c.439_440insT c.(439-441)CGCfs p.R147fs LRP8_uc001cvh.1_5'UTR|LRP8_uc001cvk.1_Frame_Shift_Ins_p.R147fs|LRP8_uc001cvj.1_Frame_Shift_Ins_p.R147fs|LRP8_uc001cvl.1_Frame_Shift_Ins_p.R147fs NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 147 LDL-receptor class A 3.|Extracellular (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 CCCGTCGCAGCGCCACGAGGCA 0.614 NA 10 29 --- --- --- --- NA NA NA NA ZNF804A 91752 broad.mit.edu 37 2 185801912 185801912 + Frame_Shift_Del DEL A A - TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr2:185801912delA uc002uph.2 + 4 2383 c.1789delA c.(1789-1791)AAAfs p.K597fs NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 597 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TAGAAGAAAGAAAAAAAGAAA 0.323 NA 14 72 --- --- --- --- NA NA NA NA TTF1 7270 broad.mit.edu 37 9 135251352 135251363 + In_Frame_Del DEL GAGCCATGCATG GAGCCATGCATG - TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 76d5fc22-fd06-43f6-94a8-943a09db5fd6 9e9c86a0-0085-45e5-87e2-5c729901b55c g.chr9:135251352_135251363delGAGCCATGCATG uc004cbl.2 - 11 2709_2720 c.2657_2668delCATGCATGGCTC c.(2656-2670)CCATGCATGGCTCAC>CAC p.PCMA886del TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_In_Frame_Del_p.PCMA371del NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 886_889 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ttacaggcgtgagccatgcatggcgcctggcc 0.175 NA 8 7 --- --- --- --- NA NA NA NA