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 TTLL10 254173 broad.mit.edu 37 1 1120451 1120451 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:1120451C>A uc001acy.2 + 13 1514 c.1363C>A c.(1363-1365)CGG>AGG p.R455R TTLL10_uc010nyg.1_Silent_p.R455R|TTLL10_uc001acz.1_Silent_p.R382R NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 455 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAAGGCCCGGGGCCTCGC 0.612 NA 14 14 9.31e-06 2e-05 1 0 FPGT 8790 broad.mit.edu 37 1 74670983 74670983 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:74670983G>T uc001dgb.1 + 4 1289 c.1252G>T c.(1252-1254)GTT>TTT p.V418F TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.V43F|FPGT_uc010oqu.1_Missense_Mutation_p.V164F|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 418 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 ACCTGGCTCAGTTGTGGAGTA 0.433 NA 44 52 9.39e-22 2.37e-21 1 0 NEXN 91624 broad.mit.edu 37 1 78390878 78390878 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:78390878G>A uc001dic.3 + 6 750 c.453G>A c.(451-453)GAG>GAA p.E151E NEXN_uc001dia.3_Intron|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.3_Silent_p.E87E|NEXN_uc001did.1_Intron|NEXN_uc001dif.1_Silent_p.E43E NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 151 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle ovary(2) 2 Colorectal(170;0.114) AATAGATTGAGGACATAAACA 0.289 NA 4 9 0 0 0 0 VAV3 10451 broad.mit.edu 37 1 108247231 108247231 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:108247231G>A uc001dvk.1 - 17 1700 c.1646C>T c.(1645-1647)GCG>GTG p.A549V VAV3_uc010ouw.1_Missense_Mutation_p.A549V|VAV3_uc001dvl.1_Missense_Mutation_p.A373V|VAV3_uc010oux.1_Missense_Mutation_p.A549V NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 549 Phorbol-ester/DAG-type. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) GTGTGCTCTCGCTCCACACTT 0.358 NA 19 26 0 0 0 0 PTGFRN 5738 broad.mit.edu 37 1 117504234 117504234 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:117504234G>T uc001egv.1 + 5 1720 c.1583G>T c.(1582-1584)TGG>TTG p.W528L NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 528 Extracellular (Potential).|Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) AACAACAGCTGGGTGAAAAGC 0.413 NA 19 26 1.45e-14 3.56e-14 1 0 ANP32E 81611 broad.mit.edu 37 1 150202958 150202958 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:150202958T>G uc001etw.2 - 3 645 c.275A>C c.(274-276)TAC>TCC p.Y92S ANP32E_uc010pbu.1_Missense_Mutation_p.Y44S|ANP32E_uc010pbv.1_Intron|ANP32E_uc001etv.3_Missense_Mutation_p.Y92S|ANP32E_uc010pbw.1_Missense_Mutation_p.Y92S NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 92 LRR 4. cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGATTGAGGTAGGTAAGATT 0.358 NA 4 43 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152278933 152278933 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152278933C>A uc001ezu.1 - 3 8465 c.8429G>T c.(8428-8430)GGA>GTA p.G2810V NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2810 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGTGTCCAGAGCTATC 0.577 NA Ichthyosis 65 468 1.77e-58 4.59e-58 1 0 LCE3A 353142 broad.mit.edu 37 1 152595358 152595358 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152595358C>T uc010pdt.1 - 1 222 c.222G>A c.(220-222)CAG>CAA p.Q74Q NM_178431 NP_848518 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 74 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCGCCTTGCTGACCACTTC 0.567 NA 15 108 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157557331 157557331 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:157557331C>A uc001fqw.2 - 5 718 c.582G>T c.(580-582)GAG>GAT p.E194D FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 194 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) TAGCTTTCAGCTCTGGATGTG 0.483 NA 13 125 0.000151284 0.000311905 1 0 FCRL2 79368 broad.mit.edu 37 1 157740241 157740241 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:157740241G>A uc001fre.2 - 3 327 c.268C>T c.(268-270)CTC>TTC p.L90F FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.L90F|FCRL2_uc009wsp.2_Missense_Mutation_p.L90F|FCRL2_uc010pia.1_Missense_Mutation_p.L90F NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 90 Ig-like C2-type 1.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTATCCCAGAGAAAGAGTTGT 0.403 NA 14 62 0 0 0 0 ATF6 22926 broad.mit.edu 37 1 161789450 161789450 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:161789450A>G uc001gbr.2 + 8 1004 c.937A>G c.(937-939)ATG>GTG p.M313V ATF6_uc001gbq.1_Missense_Mutation_p.M313V NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 313 Basic motif.|Cytoplasmic (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACAGCAACGTATGATAAAAAA 0.368 NA 4 54 0 0 0 0 MGST3 4259 broad.mit.edu 37 1 165624685 165624686 + Missense_Mutation DNP CA CA AT TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:165624685_165624686CA>AT uc001gdf.2 + 6 491_492 c.403_404CA>AT c.(403-405)CAG>ATG p.Q135M MGST3_uc001gdg.2_Missense_Mutation_p.Q149M NM_004528 NP_004519 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 135 Helical; (Potential). leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glutathione peroxidase activity|glutathione transferase activity 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Glutathione(DB00143) CTCTGCTTTCCAGCATCTTGGT 0.47 NA 12 34 0 0 0 0 C1orf114 57821 broad.mit.edu 37 1 169390781 169390781 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:169390781G>C uc001gga.1 - 3 1056 c.888C>G c.(886-888)CTC>CTG p.L296L C1orf114_uc001gfz.1_Silent_p.L296L|C1orf114_uc009wvq.1_Silent_p.L296L|C1orf114_uc001ggb.2_Silent_p.L296L|C1orf114_uc001ggc.1_Silent_p.L296L NM_021179 NP_067002 Q5TID7 CA114_HUMAN hypothetical protein LOC57821 296 0 all_hematologic(923;0.208) TCTTGCGGTTGAGTGGTGGCT 0.478 NA 45 117 0 0 0 0 F5 2153 broad.mit.edu 37 1 169512317 169512317 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:169512317T>C uc001ggg.1 - 13 2156 c.2011A>G c.(2011-2013)AGA>GGA p.R671G NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 671 Plastocyanin-like 4.|F5/8 type A 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTTTGCTTCTTGGACTAGAA 0.383 NA 19 52 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190423907 190423907 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:190423907C>T uc001gse.1 - 2 346 c.114G>A c.(112-114)CAG>CAA p.Q38Q FAM5C_uc010pot.1_5'UTR NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 38 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TTGTGGCATGCTGATCCGAAA 0.517 NA 13 31 0 0 0 0 F13B 2165 broad.mit.edu 37 1 197024991 197024991 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:197024991A>T uc001gtt.1 - 8 1252 c.1208T>A c.(1207-1209)ATG>AAG p.M403K NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 403 Sushi 7. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AGCCCCATTCATTACAACAGG 0.343 NA 4 56 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197071613 197071613 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:197071613T>A uc001gtu.2 - 18 7025 c.6768A>T c.(6766-6768)AGA>AGT p.R2256S ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.R104S NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2256 IQ 20. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTAAATGTCTTCTAGCTTTCT 0.348 NA 25 127 0 0 0 0 FAM58B 339521 broad.mit.edu 37 1 200183360 200183360 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:200183360G>C uc009wzi.1 + 1 705 c.669G>C c.(667-669)CAG>CAC p.Q223H NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 223 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TGTGGTGGCAGGCGTTTAGTG 0.547 NA 16 75 0 0 0 0 KIF14 9928 broad.mit.edu 37 1 200522870 200522870 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:200522870G>A uc010ppk.1 - 30 5032 c.4593C>T c.(4591-4593)CTC>CTT p.L1531L KIF14_uc010ppj.1_Silent_p.L1040L NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 1531 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 CACAAGTCTGGAGAAGATTTA 0.383 NA 15 54 0 0 0 0 CR1 1378 broad.mit.edu 37 1 207755303 207755303 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:207755303G>T uc001hfy.2 + 24 4047 c.3907G>T c.(3907-3909)GTT>TTT p.V1303F CR1_uc009xcl.1_Missense_Mutation_p.V853F|CR1_uc001hfx.2_Missense_Mutation_p.V1753F NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1303 Sushi 20.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTGTGTCTTGGTTGGAATGAG 0.408 NA 23 76 2.42e-17 6.03e-17 1 0 KCNH1 3756 broad.mit.edu 37 1 211192294 211192294 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:211192294C>T uc001hib.2 - 6 1033 c.863G>A c.(862-864)CGC>CAC p.R288H KCNH1_uc001hic.2_Missense_Mutation_p.R288H NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 288 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTAGTTCATGCGGATAAGTTT 0.448 NA 31 97 0 0 0 0 PROX1 5629 broad.mit.edu 37 1 214171271 214171271 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:214171271C>A uc001hkh.2 + 2 1665 c.1393C>A c.(1393-1395)CAC>AAC p.H465N PROX1_uc001hkg.1_Missense_Mutation_p.H465N NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 465 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CCAGCCCCTGCACCAGTCGCC 0.632 NA 15 144 7.93e-07 1.75e-06 1 0 USH2A 7399 broad.mit.edu 37 1 216258196 216258196 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:216258196C>A uc001hku.1 - 25 5398 c.5011G>T c.(5011-5013)GGC>TGC p.G1671C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1671 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTGAGACAGCCCACAAAACCT 0.323 NA HNSCC(13;0.011) 27 78 4.78e-09 1.11e-08 1 0 DISP1 84976 broad.mit.edu 37 1 223116610 223116610 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:223116610C>T uc001hnu.1 + 2 592 c.445C>T c.(445-447)CTG>TTG p.L149L NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 149 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) ATCCTTCTGCCTGCATCATCC 0.473 NA 24 85 0 0 0 0 TRIM67 440730 broad.mit.edu 37 1 231333150 231333150 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:231333150G>C uc009xfn.1 + 2 1120 c.1078G>C c.(1078-1080)GAT>CAT p.D360H NM_001004342 NP_001004342 Q6ZTA4 TRI67_HUMAN tripartite motif-containing 67 360 Potential. cytoplasm|cytoskeleton zinc ion binding ovary(2)|breast(1)|kidney(1) 4 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) TGGAGTTTCAGATAAGGCAAA 0.408 NA 25 60 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240371752 240371752 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:240371752G>T uc010pyd.1 + 5 3865 c.3640G>T c.(3640-3642)GGT>TGT p.G1214C FMN2_uc010pye.1_Missense_Mutation_p.G1218C NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1214 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TCCCTTGCCAGGTATGGGGAT 0.647 NA 6 25 8.13e-05 0.000168647 1 0 KIF26B 55083 broad.mit.edu 37 1 245848773 245848773 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:245848773C>T uc001ibf.1 + 12 2928 c.2488C>T c.(2488-2490)CTG>TTG p.L830L KIF26B_uc001ibg.1_Silent_p.L448L|KIF26B_uc001ibh.1_Silent_p.L72L NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 830 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCCCACCCAGCTGAGACCCTT 0.642 NA 10 42 0 0 0 0 OR2T11 127077 broad.mit.edu 37 1 248789867 248789867 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:248789867T>A uc001ier.1 - 1 563 c.563A>T c.(562-564)GAC>GTC p.D188V NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(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) CAAGGACGTGTCTGCACAGGC 0.478 NA 32 30 0 0 0 0 KIN 22944 broad.mit.edu 37 10 7808047 7808047 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:7808047C>G uc001ijt.2 - 9 866 c.818G>C c.(817-819)AGA>ACA p.R273T KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.R273T|KIN_uc010qba.1_Missense_Mutation_p.R167T NM_012311 NP_036443 O60870 KIN17_HUMAN HsKin17 protein 273 Potential. DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCGGGCAGTTCTTTTCTTTTC 0.328 NA 6 42 0 0 0 0 ITGA8 8516 broad.mit.edu 37 10 15688977 15688977 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:15688977G>T uc001ioc.1 - 12 1075 c.1075C>A c.(1075-1077)CAA>AAA p.Q359K ITGA8_uc010qcb.1_Missense_Mutation_p.Q344K NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 359 Extracellular (Potential).|FG-GAP 5. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AGGTAGATTTGCCCTACTTCT 0.502 NA 18 101 5.04e-11 1.2e-10 1 0 ARHGAP21 57584 broad.mit.edu 37 10 24896427 24896427 + Splice_Site SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:24896427C>T uc001isb.2 - 11 3171 c.2684_splice c.e11+1 p.L895_splice ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.L895_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.L730_splice NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CCGAGACTTACAATTTTGCAT 0.388 NA 7 73 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508752 37508752 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:37508752A>T uc001iza.1 + 34 4043 c.3944A>T c.(3943-3945)GAG>GTG p.E1315V NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1371 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAGAAAAATGAGGAGATATTT 0.274 NA 5 12 0 0 0 0 C10orf71 118461 broad.mit.edu 37 10 50532083 50532083 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:50532083G>C uc010qgp.1 + 3 1832 c.1493G>C c.(1492-1494)AGC>ACC p.S498T NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 498 0 AAAGCCCCTAGCCTGCTGTTC 0.512 NA 4 20 0 0 0 0 TET1 80312 broad.mit.edu 37 10 70450631 70450631 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:70450631G>T uc001jok.3 + 12 5976 c.5471G>T c.(5470-5472)AGT>ATT p.S1824I NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1824 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 ATCTTAAAAAGTTCAGACAAC 0.453 NA 14 68 9.31e-06 2e-05 1 0 SRGN 5552 broad.mit.edu 37 10 70847958 70847958 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:70847958T>C uc001joz.2 + 1 131 c.45T>C c.(43-45)CTT>CTC p.L15L SRGN_uc001jpa.1_RNA NM_002727 NP_002718 P10124 SRGN_HUMAN serglycin precursor 15 apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage extracellular space|mast cell granule|platelet alpha granule lumen 0 TCCTGGCTCTTGCCCTCATCC 0.493 NA 17 69 0 0 0 0 ANXA11 311 broad.mit.edu 37 10 81915641 81915641 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:81915641T>A uc001kbq.1 - 17 2311 c.1486A>T c.(1486-1488)ATT>TTT p.I496F ANXA11_uc010qlx.1_Missense_Mutation_p.I596F|ANXA11_uc001kbr.1_Missense_Mutation_p.I496F|ANXA11_uc001kbs.1_Missense_Mutation_p.I496F|ANXA11_uc001kbt.1_Missense_Mutation_p.I496F|ANXA11_uc010qly.1_Missense_Mutation_p.I463F|ANXA11_uc009xsq.1_Missense_Mutation_p.I500F|ANXA11_uc001kbu.1_Missense_Mutation_p.I496F NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 496 Annexin 4. cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) TTCAGCAGAATCTTCCGGTAA 0.517 NA 36 117 0 0 0 0 SLC16A12 387700 broad.mit.edu 37 10 91193071 91193071 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:91193071T>A uc001kgm.2 - 8 1602 c.1211A>T c.(1210-1212)GAT>GTT p.D404V SLC16A12_uc001kgl.2_Missense_Mutation_p.D76V NM_213606 NP_998771 Q6ZSM3 MOT12_HUMAN solute carrier family 16 (monocarboxylic acid 404 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity skin(1) 1 GCCGGTGGTATCTACCAGCCG 0.368 NA 8 31 0 0 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916167 97916167 + Silent SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:97916167A>C uc001klp.2 + 6 945 c.88A>C c.(88-90)AGG>CGG p.R30R ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Silent_p.R30R|ZNF518A_uc001klr.2_Silent_p.R30R NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) GATAGTTGATAGGTCGGCACC 0.279 NA 11 49 0 0 0 0 SEC31B 25956 broad.mit.edu 37 10 102267289 102267289 + Silent SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:102267289T>A uc001krc.1 - 7 777 c.675A>T c.(673-675)ATA>ATT p.I225I SEC31B_uc010qpo.1_Silent_p.I224I|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_Intron|SEC31B_uc010qpp.1_Silent_p.I228I|SEC31B_uc009xwn.1_Silent_p.I225I|SEC31B_uc009xwo.1_Silent_p.I225I|SEC31B_uc010qpq.1_Silent_p.I68I|SEC31B_uc010qpr.1_RNA NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 225 WD 4. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) ACTGGGTGGCTATGTCAGGAT 0.557 NA 18 58 0 0 0 0 NEURL 9148 broad.mit.edu 37 10 105349976 105349976 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:105349976C>T uc001kxh.2 + 6 1982 c.1572C>T c.(1570-1572)TGC>TGT p.C524C SH3PXD2A_uc010qqr.1_Intron NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 524 RING-type. nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) GCACCATTTGCTATGAACACG 0.632 NA 14 75 0 0 0 0 MXI1 4601 broad.mit.edu 37 10 112039820 112039820 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:112039820C>T uc001kza.2 + 5 707 c.500C>T c.(499-501)TCA>TTA p.S167L MXI1_uc001kyy.2_Missense_Mutation_p.S234L|MXI1_uc001kyz.2_Missense_Mutation_p.S121L|MXI1_uc010qrc.1_Missense_Mutation_p.S157L|MXI1_uc009xxu.2_Missense_Mutation_p.S164L|MXI1_uc009xxv.2_RNA NM_005962 NP_005953 P50539 MXI1_HUMAN MAX interactor 1 isoform a 167 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) ACTATTTCTTCAGATCGTTCT 0.448 NA 9 43 0 0 0 0 TECTB 6975 broad.mit.edu 37 10 114053774 114053774 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:114053774C>T uc001kzr.1 + 6 626 c.626C>T c.(625-627)TCG>TTG p.S209L NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor 209 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GCCACCCCCTCGGCTGACTTC 0.468 NA 19 44 0 0 0 0 VAX1 11023 broad.mit.edu 37 10 118896129 118896129 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:118896129G>A uc009xyx.2 - 2 528 c.283C>T c.(283-285)CTG>TTG p.L95L VAX1_uc001ldb.1_Silent_p.L95L NM_001112704 NP_001106175 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 isoform a 95 nucleus sequence-specific DNA binding ovary(2) 2 all cancers(201;0.0108) TCCAAGTCCAGGCCCTTGGGC 0.657 NA 17 57 0 0 0 0 NSMCE4A 54780 broad.mit.edu 37 10 123730454 123730454 + Silent SNP T T A rs139294636 byFrequency TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr10:123730454T>A uc001lfs.2 - 3 531 c.501A>T c.(499-501)CTA>CTT p.L167L NSMCE4A_uc009xzv.2_Silent_p.L167L|NSMCE4A_uc001lft.2_Silent_p.L8L|NSMCE4A_uc010qtu.1_Silent_p.L8L|NSMCE4A_uc001lfu.1_Silent_p.L167L NM_017615 NP_060085 Q9NXX6 NSE4A_HUMAN non-SMC element 4 homolog A 167 0 all_neural(114;0.138)|Glioma(114;0.222) TTGAACTTACTAGAGTTTCAA 0.358 NA 5 19 0 0 0 0 PTDSS2 81490 broad.mit.edu 37 11 489914 489914 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:489914T>C uc001lpj.2 + 11 1323 c.1147T>C c.(1147-1149)TGG>CGG p.W383R NM_030783 NP_110410 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 383 Helical; (Potential). integral to membrane 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) CCCGCAGGCCTGGCTGGTGGC 0.692 NA 5 17 0 0 0 0 HBD 3045 broad.mit.edu 37 11 5255583 5255583 + Missense_Mutation SNP C C A rs34289459 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5255583C>A uc001maf.1 - 1 276 c.81G>T c.(79-81)GAG>GAT p.E27D NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 27 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCCAGGGCCTCACCACCAA 0.517 NA 28 67 3.8e-20 9.55e-20 1 0 OR51Q1 390061 broad.mit.edu 37 11 5443979 5443979 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5443979C>A uc010qzd.1 + 1 549 c.549C>A c.(547-549)CAC>CAA p.H183Q HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTGCCTCCACCAGGATATGA 0.512 NA 51 168 2.75e-27 6.99e-27 1 0 OR52B6 340980 broad.mit.edu 37 11 5602224 5602224 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:5602224C>G uc010qzi.1 + 1 118 c.118C>G c.(118-120)CTG>GTG p.L40V HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 40 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCCCTGGGCTGGAGCAACT 0.507 NA 7 59 0 0 0 0 ILK 3611 broad.mit.edu 37 11 6629415 6629415 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6629415C>A uc001mee.2 + 3 364 c.229C>A c.(229-231)CAT>AAT p.H77N ILK_uc001mef.2_Missense_Mutation_p.H77N|ILK_uc010rap.1_Intron|ILK_uc010raq.1_Missense_Mutation_p.H77N|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Missense_Mutation_p.H77N|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 77 Interaction with LIMS1.|ANK 3. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GGCAGCCAGTCATGGACACCG 0.527 NA 8 74 2.18e-05 4.62e-05 1 0 DCHS1 8642 broad.mit.edu 37 11 6662065 6662065 + Silent SNP G G A rs144400127 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6662065G>A uc001mem.1 - 2 1190 c.780C>T c.(778-780)TAC>TAT p.Y260Y NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 260 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACAGCATGGTAGCGGCTCT 0.602 NA 16 113 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6662629 6662629 + Silent SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:6662629C>G uc001mem.1 - 2 626 c.216G>C c.(214-216)ACG>ACC p.T72T NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 72 Cadherin 1.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGAGCTGCCGTGCCTGCCG 0.632 NA 9 18 0 0 0 0 INSC 387755 broad.mit.edu 37 11 15262059 15262059 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:15262059T>G uc001mly.2 + 12 1647 c.1601T>G c.(1600-1602)GTG>GGG p.V534G INSC_uc001mlz.2_Missense_Mutation_p.V487G|INSC_uc001mma.2_Missense_Mutation_p.V487G|INSC_uc010rcs.1_Missense_Mutation_p.V522G|INSC_uc001mmb.2_Missense_Mutation_p.V487G|INSC_uc001mmc.2_Missense_Mutation_p.V445G NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 534 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 GCCGTGCTTGTGGCCTGCCTG 0.572 NA 3 32 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17428485 17428485 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:17428485C>T uc001mnc.2 - 25 3238 c.3112G>A c.(3112-3114)GAC>AAC p.D1038N NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1038 ABC transmembrane type-1 2.|Extracellular (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGGGCGCTGTCGGTCCACTTG 0.652 NA 27 78 0 0 0 0 NELL1 4745 broad.mit.edu 37 11 21135210 21135210 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:21135210G>T uc001mqe.2 + 13 1529 c.1376G>T c.(1375-1377)CGC>CTC p.R459L NELL1_uc001mqf.2_Missense_Mutation_p.R459L|NELL1_uc009yid.2_Missense_Mutation_p.R487L|NELL1_uc010rdo.1_Missense_Mutation_p.R402L|NELL1_uc010rdp.1_Missense_Mutation_p.R219L NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 459 EGF-like 2; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GGGTTATATCGCTGTGACTGT 0.398 NA 35 82 7.11e-15 1.75e-14 1 0 OR4C46 119749 broad.mit.edu 37 11 51515649 51515649 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:51515649C>A uc010ric.1 + 1 368 c.368C>A c.(367-369)GCC>GAC p.A123D NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 123 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CACTATGTGGCCATCTGCAAG 0.478 NA 33 112 1.63e-12 3.92e-12 1 0 OR5L2 26338 broad.mit.edu 37 11 55595286 55595286 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:55595286C>A uc001nhy.1 + 1 592 c.592C>A c.(592-594)CTG>ATG p.L198M NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 198 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GAATGAGACACTGCTGTTCCT 0.448 NA HNSCC(27;0.073) 46 159 4.44e-20 1.11e-19 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409156 56409156 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:56409156C>A uc001njb.1 - 1 760 c.760G>T c.(760-762)GTC>TTC p.V254F NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 AATATGGTGACAGCCATGAGG 0.458 NA 18 67 6.94e-10 1.63e-09 1 0 PRG2 5553 broad.mit.edu 37 11 57155327 57155327 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:57155327T>C uc001njz.2 - 4 537 c.510A>G c.(508-510)AGA>AGG p.R170R PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Silent_p.R170R|PRG2_uc001nkb.2_Silent_p.R170R|PRG2_uc001nkd.2_Silent_p.R159R|PRG2_uc001nkc.2_Silent_p.R170R|PRG2_uc001nke.2_Silent_p.R450R NM_002728 NP_002719 P13727 PRG2_HUMAN proteoglycan 2 preproprotein 170 C-type lectin. defense response to bacterium|immune response extracellular region|transport vesicle heparin binding|sugar binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Sargramostim(DB00020) ACTGAAAGCGTCTGCAGCGAC 0.627 NA 7 13 0 0 0 0 OR4D10 390197 broad.mit.edu 37 11 59245073 59245073 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:59245073G>T uc001nnz.1 + 1 171 c.171G>T c.(169-171)ACG>ACT p.T57T NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCCTTCACACGCCCATGTATT 0.433 NA 38 157 2.19e-23 5.55e-23 1 0 USP35 57558 broad.mit.edu 37 11 77920009 77920009 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:77920009G>T uc009yva.1 + 9 1838 c.1592G>T c.(1591-1593)CGG>CTG p.R531L USP35_uc001oze.2_Missense_Mutation_p.R287L|USP35_uc001ozc.2_Missense_Mutation_p.R99L|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Missense_Mutation_p.R142L|USP35_uc001ozf.2_Missense_Mutation_p.R262L NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 531 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CTGCTGGATCGGTAAGGGGGC 0.602 NA 9 77 1.13e-05 2.41e-05 1 0 PRCP 5547 broad.mit.edu 37 11 82571102 82571102 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:82571102C>A uc001ozs.2 - 2 339 c.226G>T c.(226-228)GAT>TAT p.D76Y PRCP_uc001ozr.2_Missense_Mutation_p.D97Y NM_005040 NP_005031 P42785 PCP_HUMAN prolylcarboxypeptidase isoform 1 preproprotein 76 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity skin(1) 1 CAGTATTTATCAGCTACTAGG 0.323 NA 5 35 0.000602214 0.00121657 1 0 FAT3 120114 broad.mit.edu 37 11 92088407 92088407 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:92088407C>A uc001pdj.3 + 1 3146 c.3129C>A c.(3127-3129)TTC>TTA p.F1043L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1043 Cadherin 9.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCCTATTTCCCAGACTTTG 0.507 NA TCGA Ovarian(4;0.039) 11 48 2.62e-11 6.26e-11 1 0 MMP20 9313 broad.mit.edu 37 11 102477389 102477389 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:102477389A>G uc001phc.2 - 6 843 c.830T>C c.(829-831)CTG>CCG p.L277P NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 277 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GGGCTTCCCCAGGAATACTTT 0.532 NA 16 64 0 0 0 0 SIK2 23235 broad.mit.edu 37 11 111593425 111593425 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:111593425C>T uc001plt.2 + 14 2210 c.2092C>T c.(2092-2094)CAG>TAG p.Q698* NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 698 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 GAACACCTGTCAGCTTTATTG 0.502 NA 26 71 0 0 0 0 OR8D1 283159 broad.mit.edu 37 11 124180027 124180027 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:124180027T>C uc010sag.1 - 1 636 c.636A>G c.(634-636)CTA>CTG p.L212L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CAGCAACAGCTAGGGTGGGCA 0.507 NA 11 27 0 0 0 0 ESAM 90952 broad.mit.edu 37 11 124632034 124632034 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:124632034C>A uc001qav.3 - 1 190 c.17G>T c.(16-18)GGG>GTG p.G6V ESAM_uc010sao.1_Missense_Mutation_p.G6V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G6V NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 6 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CACCAGGGGCCCCGGGAGGGA 0.697 NA 5 19 3.6e-05 7.56e-05 1 0 NTM 50863 broad.mit.edu 37 11 132016211 132016211 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr11:132016211G>T uc001qgp.2 + 2 867 c.203G>T c.(202-204)TGG>TTG p.W68L NTM_uc001qgm.2_Missense_Mutation_p.W68L|NTM_uc010sch.1_Missense_Mutation_p.W59L|NTM_uc010sci.1_Missense_Mutation_p.W68L|NTM_uc010scj.1_Missense_Mutation_p.W27L|NTM_uc001qgo.2_Missense_Mutation_p.W68L|NTM_uc001qgq.2_Missense_Mutation_p.W68L NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 68 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CGGGTGGCCTGGCTAAACCGC 0.577 NA 13 40 7.93e-07 1.75e-06 1 0 LRP6 4040 broad.mit.edu 37 12 12334103 12334103 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:12334103T>C uc001rah.3 - 6 1389 c.1247A>G c.(1246-1248)AAT>AGT p.N416S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.N416S NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 416 Extracellular (Potential).|LDL-receptor class B 7.|Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCAATAAAGATTTCGTGCAAC 0.478 NA 13 130 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 14018732 14018732 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:14018732C>T uc001rbt.2 - 2 590 c.411G>A c.(409-411)AAG>AAA p.K137K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 137 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCTTTTTACCTTATCTGCCA 0.493 NA 123 142 0 0 0 0 H3F3C 440093 broad.mit.edu 37 12 31944920 31944920 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:31944920G>A uc001rkr.2 - 1 256 c.181C>T c.(181-183)CTC>TTC p.L61F NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN histone H3-like 61 nucleosome assembly nucleosome|nucleus DNA binding 0 TTCCGGATGAGCAGCTCGGTC 0.602 NA HNSCC(67;0.2) 32 52 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420184 49420184 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:49420184C>T uc001rta.3 - 48 15565 c.15565G>A c.(15565-15567)GGA>AGA p.G5189R NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5189 FYR N-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGCAGCTGTCCGATGGCGTGG 0.592 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 27 0 0 0 0 KRT73 319101 broad.mit.edu 37 12 53011886 53011886 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:53011886G>C uc001sas.2 - 1 458 c.423C>G c.(421-423)AAC>AAG p.N141K NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 141 Coil 1A.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGCGAACTTGTTGTTCAGCA 0.547 NA 33 96 0 0 0 0 ITGA7 3679 broad.mit.edu 37 12 56092549 56092549 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:56092549G>C uc001shh.2 - 6 1175 c.955C>G c.(955-957)CGC>GGC p.R319G ITGA7_uc001shg.2_Missense_Mutation_p.R315G|ITGA7_uc010sps.1_Missense_Mutation_p.R222G|ITGA7_uc009znw.2_5'Flank|ITGA7_uc009znx.2_Missense_Mutation_p.R202G NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 359 FG-GAP 5.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 GAGGTCAGGCGCTCCCCAGAC 0.652 NA 8 48 0 0 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791671 76791671 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:76791671C>T uc001sye.1 - 8 955 c.475G>A c.(475-477)GGT>AGT p.G159S OSBPL8_uc001syf.1_Missense_Mutation_p.G117S|OSBPL8_uc001syg.1_Missense_Mutation_p.G117S|OSBPL8_uc001syh.1_Missense_Mutation_p.G134S NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 159 PH. lipid transport lipid binding ovary(1) 1 TTTAGAGTACCACGAATCTAC 0.358 NA 9 30 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81719651 81719651 + Splice_Site SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:81719651T>A uc001szo.1 - 22 2710 c.2549_splice c.e22-1 p.R850_splice PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Splice_Site|PPFIA2_uc010suh.1_Splice_Site|PPFIA2_uc010sui.1_Splice_Site|PPFIA2_uc010suj.1_Splice_Site|PPFIA2_uc009zsi.1_Splice_Site|PPFIA2_uc010suf.1_Splice_Site|PPFIA2_uc009zsh.2_Splice_Site NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 ovary(3)|lung(2)|pancreas(1) 6 TAAAGCCTCCTGTGAAGAGAA 0.423 NA 3 25 0 0 0 0 TMTC2 160335 broad.mit.edu 37 12 83290168 83290168 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:83290168C>G uc001szt.2 + 3 1658 c.1226C>G c.(1225-1227)ACG>AGG p.T409R TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 409 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 GTTCCTGCCACGAACCTGTTT 0.418 NA 18 109 0 0 0 0 KERA 11081 broad.mit.edu 37 12 91449952 91449952 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:91449952G>C uc001tbl.2 - 2 726 c.107C>G c.(106-108)ACT>AGT p.T36S NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 36 LRRNT. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 GTCATGAATAGTCCAATCATC 0.408 NA 5 40 0 0 0 0 ACTR6 64431 broad.mit.edu 37 12 100603865 100603865 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:100603865G>T uc001thb.1 + 5 450 c.394G>T c.(394-396)GCA>TCA p.A132S ACTR6_uc001thc.1_Missense_Mutation_p.A24S|ACTR6_uc001thd.1_Missense_Mutation_p.A132S|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Missense_Mutation_p.A50S|ACTR6_uc001thf.1_Missense_Mutation_p.A50S|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 132 cytoplasm|cytoskeleton ovary(1) 1 GGCTCTCAGTGCACATAGGTA 0.308 NA 8 56 5.18e-06 1.12e-05 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105428104 105428104 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:105428104T>A uc001tlc.2 - 19 2345 c.2218A>T c.(2218-2220)ATC>TTC p.I740F ALDH1L2_uc009zuo.2_Missense_Mutation_p.I195F|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 740 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 TCGTCGTGGATGGATTCTTCC 0.418 NA 6 42 0 0 0 0 RIC8B 55188 broad.mit.edu 37 12 107254088 107254088 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:107254088G>T uc001tlx.2 + 8 1474 c.1349G>T c.(1348-1350)GGA>GTA p.G450V RIC8B_uc001tlw.2_Missense_Mutation_p.G450V|RIC8B_uc001tly.2_Missense_Mutation_p.G410V|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 450 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 AATGCTGCAGGACTGTTGGCG 0.463 NA 12 41 7.04e-09 1.62e-08 1 0 RPH3A 22895 broad.mit.edu 37 12 113314582 113314582 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:113314582C>A uc010syl.1 + 13 1444 c.1082C>A c.(1081-1083)GCA>GAA p.A361E RPH3A_uc001ttz.2_Missense_Mutation_p.A361E|RPH3A_uc001tty.2_Missense_Mutation_p.A357E|RPH3A_uc009zwe.1_Missense_Mutation_p.A357E|RPH3A_uc010sym.1_Missense_Mutation_p.A312E|RPH3A_uc001tua.2_Missense_Mutation_p.A121E NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 361 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) CAAGCATCTGCAGCTGCCCCC 0.642 NA 8 49 0.000274275 0.000561037 1 0 IQCD 115811 broad.mit.edu 37 12 113645284 113645284 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:113645284C>T uc001tuv.1 - 2 1110 c.688G>A c.(688-690)GAA>AAA p.E230K IQCD_uc001tuu.2_Missense_Mutation_p.E230K NM_138451 NP_612460 Q96DY2 IQCD_HUMAN IQ motif containing D 230 ovary(1) 1 AATTCCTTTTCAAGAGTATCA 0.383 NA 5 56 0 0 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135284 126135284 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:126135284T>C uc001uhe.1 + 7 1692 c.1684T>C c.(1684-1686)TCC>CCC p.S562P TMEM132B_uc001uhf.1_Missense_Mutation_p.S74P NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 562 Extracellular (Potential). integral to membrane p.S562S(1) skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACGAGGCTGCTCCCTGCAGTA 0.572 NA 11 42 0 0 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827590 130827590 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:130827590A>T uc001uik.2 + 3 224 c.134A>T c.(133-135)GAA>GTA p.E45V PIWIL1_uc001uij.1_Missense_Mutation_p.E45V NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 45 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCAGAGGGGGAATTATTTGGC 0.473 NA 6 31 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32812117 32812117 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:32812117G>T uc001utx.2 + 44 6908 c.6412G>T c.(6412-6414)GCT>TCT p.A2138S FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2138 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCATCCCACGCTATTGGTAA 0.458 NA 16 74 6.94e-10 1.63e-09 1 0 STARD13 90627 broad.mit.edu 37 13 33701605 33701605 + Silent SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:33701605C>G uc001uuw.2 - 6 1953 c.1827G>C c.(1825-1827)ACG>ACC p.T609T STARD13_uc001uuu.2_Silent_p.T601T|STARD13_uc001uuv.2_Silent_p.T491T|STARD13_uc001uux.2_Silent_p.T574T|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.T594T NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 609 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCTGGCTGGCCGTCTGGCTGC 0.632 NA 8 8 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39435695 39435695 + Silent SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:39435695A>T uc001uwv.2 + 15 7956 c.7647A>T c.(7645-7647)ATA>ATT p.I2549I FREM2_uc001uww.2_Silent_p.I635I NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2549 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGCCACACATAGATGGTAGGT 0.423 NA 21 67 0 0 0 0 LCP1 3936 broad.mit.edu 37 13 46726918 46726918 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:46726918C>T uc001vaz.3 - 7 862 c.736G>A c.(736-738)GAA>AAA p.E246K LCP1_uc001vba.3_Missense_Mutation_p.E246K NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 246 Actin-binding 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) CTCTTACCTTCATTTCTGCTG 0.458 NA T BCL6 NHL 9 34 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20295661 20295661 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:20295661C>A uc010tkv.1 + 1 54 c.54C>A c.(52-54)ACC>ACA p.T18T NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 18 Extracellular (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) TTGGTCTGACCCAGTCTCAAG 0.383 NA 20 136 8.34e-07 1.84e-06 1 0 SLC7A8 23428 broad.mit.edu 37 14 23609700 23609700 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:23609700C>T uc001wiz.2 - 5 1494 c.768G>A c.(766-768)GAG>GAA p.E256E SLC7A8_uc001wix.2_Silent_p.E53E|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Silent_p.E151E|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Silent_p.E256E NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 256 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAACAAGCTCCTCAGTCACGT 0.532 NA 22 146 0 0 0 0 DHRS2 10202 broad.mit.edu 37 14 24108495 24108495 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:24108495A>G uc001wkt.3 + 3 695 c.248A>G c.(247-249)GAG>GGG p.E83G DHRS2_uc010aku.1_Missense_Mutation_p.E83G|DHRS2_uc001wku.3_Missense_Mutation_p.E83G|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.E83G NM_182908 NP_878912 Q13268 DHRS2_HUMAN dehydrogenase/reductase member 2 isoform 1 61 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00659) CTGCAGGGGGAGGGGCTGAGT 0.687 NA 3 90 0 0 0 0 PRKD1 5587 broad.mit.edu 37 14 30103722 30103722 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:30103722G>T uc001wqh.2 - 8 1397 c.1216C>A c.(1216-1218)CTC>ATC p.L406I NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 406 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ACCCTCATGAGTGGGATATTG 0.403 NA 25 140 6.33e-13 1.53e-12 1 0 INSM2 84684 broad.mit.edu 37 14 36003680 36003680 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:36003680G>T uc001wth.1 + 1 433 c.222G>T c.(220-222)GGG>GGT p.G74G NM_032594 NP_115983 Q96T92 INSM2_HUMAN insulinoma-associated protein IA-6 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(1)|skin(1) 2 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) AACAGTCGGGGTCGCCATGTC 0.726 NA 9 4 0.000442599 0.000901105 1 0 SLC25A21 89874 broad.mit.edu 37 14 37283178 37283178 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:37283178G>T uc001wtz.1 - 3 458 c.148C>A c.(148-150)CCA>ACA p.P50T NM_030631 NP_085134 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial 50 Solcar 1. lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding skin(1) 1 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TAACTGTTTGGATCGGTTGCA 0.313 NA 8 58 0.000274275 0.000561037 1 0 C14orf142 84520 broad.mit.edu 37 14 93673339 93673339 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:93673339T>A uc001ybl.1 - 1 121 c.44A>T c.(43-45)CAG>CTG p.Q15L UBR7_uc001ybm.3_5'Flank|UBR7_uc001ybn.3_5'Flank|UBR7_uc010auq.2_5'Flank NM_032490 NP_115879 Q9BXV9 CN142_HUMAN hypothetical protein LOC84520 15 0 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.177)|all cancers(159;0.198)|COAD - Colon adenocarcinoma(157;0.203) CCGCAGCTTCTGCGGCTTCCC 0.622 NA OREG0022885 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 61 0 0 0 0 AK7 122481 broad.mit.edu 37 14 96937852 96937852 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr14:96937852A>G uc001yfn.2 + 13 1439 c.1395A>G c.(1393-1395)AAA>AAG p.K465K NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 465 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GATTTATGAAAGAAAAGCTAA 0.294 NA 4 32 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 33944987 33944987 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:33944987G>A uc001zhi.2 + 32 4281 c.4211G>A c.(4210-4212)CGG>CAG p.R1404Q RYR3_uc010bar.2_Missense_Mutation_p.R1404Q NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1404 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGATCAAATCGGAGCAACGTG 0.537 NA 11 50 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54306702 54306702 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:54306702C>T uc002ack.2 + 1 1602 c.1602C>T c.(1600-1602)CTC>CTT p.L534L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 534 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CAACACCTCTCTGGCACTCAC 0.358 NA 7 61 0 0 0 0 PYGO1 26108 broad.mit.edu 37 15 55838897 55838897 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:55838897A>T uc010bfl.1 - 3 640 c.584T>A c.(583-585)GTT>GAT p.V195D PYGO1_uc002adf.1_Missense_Mutation_p.V195D NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 195 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) GGGGTTAGAAACTTGGCTAGC 0.348 NA 23 48 0 0 0 0 LIPC 3990 broad.mit.edu 37 15 58724316 58724316 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:58724316C>G uc010bga.1 + 3 693 c.85C>G c.(85-87)CCA>GCA p.P29A LIPC_uc010bfz.1_Missense_Mutation_p.P29A|LIPC_uc002afa.1_Missense_Mutation_p.P29A|LIPC_uc010bgb.1_5'UTR|LIPC_uc010ugy.1_Missense_Mutation_p.P29A NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 29 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAGCCTGAAACCAGGTAAGAG 0.448 NA 16 76 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65491007 65491007 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:65491007G>C uc002aon.2 - 9 1798 c.1617C>G c.(1615-1617)CTC>CTG p.L539L NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 539 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CCACAAATGTGAGCACCAGCC 0.522 NA 14 65 0 0 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636273 74636273 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:74636273T>C uc002axt.2 - 4 841 c.686A>G c.(685-687)GAG>GGG p.E229G CYP11A1_uc002axs.2_Missense_Mutation_p.E71G|CYP11A1_uc010bjm.1_Missense_Mutation_p.E71G|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjo.1_Missense_Mutation_p.E229G|CYP11A1_uc010bjp.1_RNA|CYP11A1_uc010ulj.1_Missense_Mutation_p.E9G NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 229 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) TCGCTGGGCCTCGGGGTTCAC 0.572 NA 3 138 0 0 0 0 RASGRF1 5923 broad.mit.edu 37 15 79382664 79382664 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:79382664G>A uc002beq.2 - 1 552 c.177C>T c.(175-177)AGC>AGT p.S59S RASGRF1_uc002bep.2_Silent_p.S59S|RASGRF1_uc002ber.3_Silent_p.S59S NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 59 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 AGGGCCGCGAGCTCGAGTCGC 0.637 NA 8 102 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 86940669 86940669 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:86940669G>T uc002blz.1 + 17 2389 c.2309G>T c.(2308-2310)GGT>GTT p.G770V NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 770 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GTGATGAAGGGTACCTTGGAG 0.483 NA 21 73 4.35e-09 1.02e-08 1 0 NTRK3 4916 broad.mit.edu 37 15 88472442 88472442 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:88472442A>T uc002bme.1 - 16 2275 c.2113T>A c.(2113-2115)TAC>AAC p.Y705N NTRK3_uc002bmh.2_Missense_Mutation_p.Y697N|NTRK3_uc002bmf.1_Missense_Mutation_p.Y705N|NTRK3_uc010upl.1_Missense_Mutation_p.Y607N|NTRK3_uc010bnh.1_Missense_Mutation_p.Y697N NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 705 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) TCCGTGCTGTAGACATCTCTG 0.517 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 29 126 0 0 0 0 BLM 641 broad.mit.edu 37 15 91304239 91304239 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:91304239G>C uc002bpr.2 + 7 1733 c.1636G>C c.(1636-1638)GAA>CAA p.E546Q BLM_uc010uqh.1_Missense_Mutation_p.E546Q|BLM_uc010uqi.1_Missense_Mutation_p.E171Q|BLM_uc010bnx.2_Missense_Mutation_p.E546Q|BLM_uc002bps.1_Missense_Mutation_p.E108Q NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 546 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CTTAGAAAGAGAAACCCAACC 0.338 NA Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome 6 72 0 0 0 0 CHD2 1106 broad.mit.edu 37 15 93540258 93540258 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr15:93540258A>G uc002bsp.2 + 29 4242 c.3667A>G c.(3667-3669)ATC>GTC p.I1223V CHD2_uc002bso.1_Missense_Mutation_p.I1223V NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1223 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GAAATCCATTATCCAACATGA 0.378 NA 3 36 0 0 0 0 WDR90 197335 broad.mit.edu 37 16 703573 703573 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:703573C>A uc002cii.1 + 12 1336 c.1282C>A c.(1282-1284)CAG>AAG p.Q428K WDR90_uc002cig.1_Missense_Mutation_p.Q428K|WDR90_uc002cih.1_Missense_Mutation_p.Q429K|WDR90_uc002cij.1_RNA|WDR90_uc002cik.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 428 WD 1. ovary(1) 1 Hepatocellular(780;0.0218) GGCCTCGGCCCAGGCAAGGGC 0.652 NA 19 71 1.56e-12 3.78e-12 1 0 WDR90 197335 broad.mit.edu 37 16 715788 715788 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:715788A>G uc002cii.1 + 35 4475 c.4421A>G c.(4420-4422)CAG>CGG p.Q1474R WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.Q89R|WDR90_uc010uul.1_Missense_Mutation_p.Q73R|WDR90_uc002cio.1_Missense_Mutation_p.Q73R|WDR90_uc010bqx.1_Missense_Mutation_p.Q73R|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 1474 ovary(1) 1 Hepatocellular(780;0.0218) ATCCAGTTCCAGGTGCTGAAC 0.701 NA 3 29 0 0 0 0 NTN3 4917 broad.mit.edu 37 16 2522435 2522435 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:2522435G>C uc002cqj.2 + 1 936 c.733G>C c.(733-735)GCA>CCA p.A245P TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 245 Laminin N-terminal. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 TTACTCCTACGCAGCCACCGA 0.652 NA 8 57 0 0 0 0 RNF40 9810 broad.mit.edu 37 16 30776589 30776589 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:30776589G>A uc002dzq.2 + 7 982 c.859G>A c.(859-861)GAG>AAG p.E287K RNF40_uc010caa.2_Missense_Mutation_p.E287K|RNF40_uc010cab.2_Missense_Mutation_p.E287K|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.E287K|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 287 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GTGGGACATCGAGAAGCTGCG 0.582 NA 10 66 0 0 0 0 NUP93 9688 broad.mit.edu 37 16 56865903 56865903 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:56865903A>T uc002eka.2 + 11 1356 c.1235A>T c.(1234-1236)GAT>GTT p.D412V NUP93_uc002ekb.2_Missense_Mutation_p.D289V|NUP93_uc010vhi.1_Missense_Mutation_p.D289V NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 412 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 AAAACTGAGGATTACCTGTGG 0.502 NA 17 94 0 0 0 0 CES2 8824 broad.mit.edu 37 16 66969362 66969362 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:66969362C>G uc002eqr.2 + 1 1016 c.16C>G c.(16-18)CGC>GGC p.R6G CES2_uc002eqq.2_Missense_Mutation_p.R6G|CES2_uc002eqs.2_5'UTR|FAM96B_uc002eqp.2_5'Flank NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 Error:Variant_position_missing_in_O00748_after_alignment catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TGCTCAGTCCCGCTCTCCTAC 0.647 NA 11 129 0 0 0 0 ZFHX3 463 broad.mit.edu 37 16 72984464 72984464 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:72984464G>C uc002fck.2 - 3 3793 c.3120C>G c.(3118-3120)CTC>CTG p.L1040L ZFHX3_uc002fcl.2_Silent_p.L126L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 1040 C2H2-type 8; atypical. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CGTTGCACTTGAGGTGCACGG 0.597 NA 24 33 0 0 0 0 BCMO1 53630 broad.mit.edu 37 16 81298334 81298334 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:81298334C>T uc002fgn.1 + 5 779 c.561C>T c.(559-561)TCC>TCT p.S187S BCMO1_uc010vnp.1_Silent_p.S118S NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 187 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 TGGGCACATCCATTGTGGAAA 0.428 NA 10 38 0 0 0 0 SPATA2L 124044 broad.mit.edu 37 16 89764695 89764695 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr16:89764695C>T uc002foj.2 - 3 387 c.322G>A c.(322-324)GTG>ATG p.V108M SPATA2L_uc002fok.2_Missense_Mutation_p.V108M NM_152339 NP_689552 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 108 0 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) AGCACGTGCACGTAGCCCCCA 0.617 NA 25 252 0 0 0 0 KIF1C 10749 broad.mit.edu 37 17 4910344 4910344 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:4910344C>A uc002gan.1 + 14 1626 c.1300C>A c.(1300-1302)CAG>AAG p.Q434K NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 434 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 CACGGAGTCCCAGATTGGGCC 0.597 NA 17 64 0.000566183 0.00115092 1 0 RPAIN 84268 broad.mit.edu 37 17 5323591 5323592 + Missense_Mutation DNP TG TG CT TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:5323591_5323592TG>CT uc002gbq.2 + 1 631_632 c.61_62TG>CT c.(61-63)TGG>CTG p.W21L NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Missense_Mutation_p.W21L|RPAIN_uc002gbp.1_Missense_Mutation_p.L74S|RPAIN_uc010vta.1_Missense_Mutation_p.W21L|RPAIN_uc010vtb.1_Missense_Mutation_p.W21L|RPAIN_uc002gbs.2_Missense_Mutation_p.L74S|RPAIN_uc002gbt.2_Missense_Mutation_p.W21L|RPAIN_uc002gbu.2_Missense_Mutation_p.L74S|RPAIN_uc002gbv.2_RNA|RPAIN_uc002gbr.2_RNA|RPAIN_uc002gbw.2_Missense_Mutation_p.W21L NM_001033002 NP_001028174 Q86UA6 RIP_HUMAN RPA interacting protein isoform b 21 DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV cytoplasm|cytoplasm|nucleolus|PML body|PML body metal ion binding|protein complex binding 0 CTCGCCGCCTTGGAAAGAGGCT 0.624 NA 12 35 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577508 7577508 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:7577508T>G uc002gim.2 - 7 967 c.773A>C c.(772-774)GAA>GCA p.E258A TP53_uc002gig.1_Missense_Mutation_p.E258A|TP53_uc002gih.2_Missense_Mutation_p.E258A|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E126A|TP53_uc010cng.1_Missense_Mutation_p.E126A|TP53_uc002gii.1_Missense_Mutation_p.E126A|TP53_uc010cnh.1_Missense_Mutation_p.E258A|TP53_uc010cni.1_Missense_Mutation_p.E258A|TP53_uc002gij.2_Missense_Mutation_p.E258A|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E165A|TP53_uc002gio.2_Missense_Mutation_p.E126A NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 258 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> Q (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> D (in sporadic cancers; 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.E258K(37)|p.E258*(12)|p.E258Q(8)|p.E258D(8)|p.0?(7)|p.E258G(7)|p.E258V(5)|p.E258A(5)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.E258L(1)|p.E258fs*87(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) CCTGGAGTCTTCCAGTGTGAT 0.582 111 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) 14 29 0 0 0 0 MYH10 4628 broad.mit.edu 37 17 8383805 8383805 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:8383805C>T uc002gll.2 - 37 5306 c.5210G>A c.(5209-5211)CGG>CAG p.R1737Q MYH10_uc002glm.2_Missense_Mutation_p.R1768Q|MYH10_uc010cnx.2_Missense_Mutation_p.R1746Q NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1737 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CTGTGCGATCCGAGCTTCCAG 0.612 NA 10 12 0 0 0 0 TBC1D28 254272 broad.mit.edu 37 17 18542504 18542504 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:18542504C>G uc002gud.2 - 6 594 c.182G>C c.(181-183)AGT>ACT p.S61T NM_001039397 NP_001034486 Q2M2D7 TBC28_HUMAN TBC1 domain family, member 28 61 intracellular Rab GTPase activator activity ovary(1) 1 CTCCAGGGCACTGACGCGGGG 0.652 NA 20 31 0 0 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822750 26822750 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:26822750C>T uc002hbh.2 + 10 1453 c.1386C>T c.(1384-1386)ATC>ATT p.I462I SLC13A2_uc010wam.1_Silent_p.I418I|SLC13A2_uc010wan.1_Silent_p.I511I|SLC13A2_uc010wao.1_Silent_p.I419I|SLC13A2_uc002hbi.2_Silent_p.I391I NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 462 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) TTGCCATCATCCTCTCCCTCC 0.612 NA 51 112 0 0 0 0 MED24 9862 broad.mit.edu 37 17 38179592 38179592 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:38179592G>T uc002htt.2 - 20 2355 c.2042C>A c.(2041-2043)ACA>AAA p.T681K MED24_uc010weq.1_5'Flank|MED24_uc002htr.2_5'Flank|MED24_uc010wer.1_Missense_Mutation_p.T16K|MED24_uc010wes.1_Missense_Mutation_p.T541K|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.T706K|MED24_uc002htu.2_Missense_Mutation_p.T668K|MED24_uc010cwn.2_Missense_Mutation_p.T668K|MED24_uc010weu.1_Missense_Mutation_p.T591K|MED24_uc010wev.1_Missense_Mutation_p.T631K|MED24_uc010wew.1_Missense_Mutation_p.T622K NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 681 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) CTGCGTGGCTGTCTGCTGCAG 0.612 NA 16 33 1.03e-11 2.47e-11 1 0 PLEKHH3 79990 broad.mit.edu 37 17 40825796 40825796 + Nonsense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:40825796G>A uc002iau.2 - 4 822 c.355C>T c.(355-357)CGA>TGA p.R119* PLEKHH3_uc010cyl.1_5'Flank|PLEKHH3_uc002iat.1_RNA|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_5'UTR|PLEKHH3_uc002iaw.2_Nonsense_Mutation_p.R119* NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 119 PH. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) AACCAGGCTCGGCGCGGGGGC 0.697 NA 7 5 0 0 0 0 EFTUD2 9343 broad.mit.edu 37 17 42930947 42930947 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:42930947G>T uc002ihn.2 - 24 2665 c.2404C>A c.(2404-2406)CAC>AAC p.H802N EFTUD2_uc010wje.1_Missense_Mutation_p.H767N|EFTUD2_uc010wjf.1_Missense_Mutation_p.H792N NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 802 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) CCGCCCCGGTGCAGGGGCTCC 0.592 NA 6 57 5.94e-07 1.32e-06 1 0 TOB1 10140 broad.mit.edu 37 17 48941307 48941307 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:48941307A>G uc002isw.2 - 1 107 c.72T>C c.(70-72)CGT>CGC p.R24R TOB1_uc010wmy.1_Silent_p.R24R|TOB1_uc010wmz.1_Silent_p.R24R|uc002isy.2_5'Flank NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 24 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AAATGTTGACACGTCTCCTGG 0.373 NA 11 101 0 0 0 0 EPX 8288 broad.mit.edu 37 17 56271376 56271376 + Missense_Mutation SNP G G C rs150719520 TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:56271376G>C uc002ivq.2 + 5 603 c.517G>C c.(517-519)GCC>CCC p.A173P NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 173 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 CTGGCTGCCCGCCGAGTATGA 0.652 NA 13 51 0 0 0 0 CD300A 11314 broad.mit.edu 37 17 72469713 72469713 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:72469713C>A uc002jkv.2 + 2 400 c.79C>A c.(79-81)CCC>ACC p.P27T CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 27 Extracellular (Potential).|Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 CGTGGCGGGCCCCGTGGGGGG 0.562 NA 19 89 1.16e-05 2.48e-05 1 0 QRICH2 84074 broad.mit.edu 37 17 74271917 74271917 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:74271917G>A uc002jrd.1 - 18 5147 c.4967C>T c.(4966-4968)TCG>TTG p.S1656L QRICH2_uc010wsz.1_Silent_p.F1348F|QRICH2_uc010dgw.1_Missense_Mutation_p.S500L NM_032134 NP_115510 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1656 protein binding ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1) 5 GTTGCCAGCCGAAATCTGGGC 0.672 NA 10 32 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78319512 78319512 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:78319512G>C uc002jyh.1 + 4 1819 c.1596G>C c.(1594-1596)ATG>ATC p.M532I NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CTGCAGACATGATCTACTCCA 0.488 NA 17 106 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78360548 78360548 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:78360548C>T uc002jyh.1 + 38 9221 c.8998C>T c.(8998-9000)CGG>TGG p.R3000W uc002jyi.1_Intron|RNF213_uc010dhx.1_5'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGAAGTGGAGCGGGACCTGAC 0.572 NA 35 36 0 0 0 0 LRRC45 201255 broad.mit.edu 37 17 79986313 79986313 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:79986313A>T uc002kde.2 + 11 1406 c.1166A>T c.(1165-1167)CAG>CTG p.Q389L NM_144999 NP_659436 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 389 Potential. centrosome pancreas(1) 1 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAGCAGGAGCAGCTGTTCCAG 0.662 NA 16 87 0 0 0 0 FN3KRP 79672 broad.mit.edu 37 17 80684370 80684371 + Nonsense_Mutation DNP GG GG TT TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:80684370_80684371GG>TT uc002kfu.2 + 5 533_534 c.483_484GG>TT c.(481-486)CAGGAG>CATTAG p.161_162QE>H* FN3KRP_uc010wvr.1_Nonsense_Mutation_p.111_112QE>H* NM_024619 NP_078895 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 161_162 kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) ATGACTGGCAGGAGGACTGGGT 0.559 NA 98 207 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397303 5397303 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:5397303G>T uc002kmt.1 - 18 2681 c.2595C>A c.(2593-2595)CAC>CAA p.H865Q EPB41L3_uc010wzh.1_Missense_Mutation_p.H696Q|EPB41L3_uc002kmu.1_Missense_Mutation_p.H643Q|EPB41L3_uc010dkq.1_Missense_Mutation_p.H534Q|EPB41L3_uc002kms.1_Missense_Mutation_p.H100Q|EPB41L3_uc010wze.1_Missense_Mutation_p.H170Q|EPB41L3_uc010wzf.1_Missense_Mutation_p.H162Q|EPB41L3_uc010wzg.1_Missense_Mutation_p.H137Q|EPB41L3_uc010dkr.2_Missense_Mutation_p.H257Q NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 865 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CCCCACTCGCGTGCACCACAC 0.617 NA 29 41 7.68e-24 1.95e-23 1 0 ANKRD12 23253 broad.mit.edu 37 18 9256148 9256148 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:9256148G>A uc002knv.2 + 9 3140 c.2883G>A c.(2881-2883)AAG>AAA p.K961K ANKRD12_uc002knw.2_Silent_p.K938K|ANKRD12_uc002knx.2_Silent_p.K938K|ANKRD12_uc010dkx.1_Silent_p.K668K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 961 nucleus ovary(2)|central_nervous_system(1) 3 TAGATAAAAAGGAAAAATCTA 0.284 NA 4 19 0 0 0 0 PIK3C3 5289 broad.mit.edu 37 18 39618758 39618758 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr18:39618758A>C uc002lap.2 + 18 2040 c.1982A>C c.(1981-1983)GAA>GCA p.E661A PIK3C3_uc010xcl.1_Missense_Mutation_p.E598A|PIK3C3_uc002laq.2_Missense_Mutation_p.E146A|PIK3C3_uc002lar.1_Missense_Mutation_p.E45A NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 661 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 TTACGGAAAGAAAATCTGGAC 0.299 NA TSP Lung(28;0.18) 10 30 0 0 0 0 FAM108A1 81926 broad.mit.edu 37 19 1881347 1881347 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:1881347A>G uc002lug.2 - 2 625 c.219T>C c.(217-219)CGT>CGC p.R73R FAM108A1_uc002lud.2_Silent_p.R73R|FAM108A1_uc002lue.2_Silent_p.R73R|FAM108A1_uc002luf.2_Silent_p.R73R NM_001130111 NP_001123583 Q96GS6 F18A1_HUMAN hypothetical protein LOC81926 isoform 2 73 extracellular region hydrolase activity 0 Ovarian(11;0.000137) 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) GGAAGTCGGCACGCTCCGTCA 0.716 NA 4 52 0 0 0 0 VAV1 7409 broad.mit.edu 37 19 6854109 6854109 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:6854109G>T uc002mfu.1 + 26 2581 c.2484G>T c.(2482-2484)CGG>CGT p.R828R VAV1_uc010xjh.1_Silent_p.R796R|VAV1_uc010dva.1_Silent_p.R806R|VAV1_uc002mfv.1_Silent_p.R773R NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 828 SH3 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 TCTATGGCCGGGTGAGGCAGG 0.622 NA 8 31 3.1e-07 6.91e-07 1 0 ICAM1 3383 broad.mit.edu 37 19 10385697 10385697 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:10385697C>A uc002mnq.2 + 2 643 c.324C>A c.(322-324)ACC>ACA p.T108T ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 108 Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CCTTCCTCACCGTGTACTGTG 0.552 NA 22 104 3.62e-10 8.53e-10 1 0 SMARCA4 6597 broad.mit.edu 37 19 11138619 11138619 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:11138619G>T uc002mqf.3 + 24 3659 c.3375G>T c.(3373-3375)AGG>AGT p.R1125S SMARCA4_uc010dxp.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxo.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqg.1_Missense_Mutation_p.R1125S|SMARCA4_uc010dxq.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxr.2_Missense_Mutation_p.R1125S|SMARCA4_uc002mqj.3_Missense_Mutation_p.R1125S|SMARCA4_uc010dxs.2_Missense_Mutation_p.R1125S|SMARCA4_uc010dxt.1_Missense_Mutation_p.R345S|SMARCA4_uc002mqh.3_Missense_Mutation_p.R248S|SMARCA4_uc002mqi.1_Missense_Mutation_p.R328S NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1125 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(2) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) AATACCTCAGGCTTGATGGTG 0.512 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 43 89 2.54e-34 6.51e-34 1 0 C19orf39 126074 broad.mit.edu 37 19 11486363 11486363 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:11486363A>T uc002mrg.1 + 2 398 c.361A>T c.(361-363)ACA>TCA p.T121S NM_175871 NP_787067 Q6NVH7 CS039_HUMAN hypothetical protein LOC126074 121 0 ACTTCTAGACACAGCTGCCCA 0.637 NA 76 54 0 0 0 0 SIN3B 23309 broad.mit.edu 37 19 16977356 16977356 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:16977356G>T uc002ney.1 + 13 1905 c.1891G>T c.(1891-1893)GTC>TTC p.V631F SIN3B_uc002nez.1_Missense_Mutation_p.V599F|SIN3B_uc010xpi.1_Missense_Mutation_p.V189F NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 631 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 GATCGAGAGCGTCTACGACGA 0.622 NA 29 20 2.66e-16 6.62e-16 1 0 GMIP 51291 broad.mit.edu 37 19 19753398 19753398 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:19753398C>G uc002nnd.2 - 2 167 c.50G>C c.(49-51)AGG>ACG p.R17T GMIP_uc010xrb.1_Missense_Mutation_p.R17T|GMIP_uc010xrc.1_Missense_Mutation_p.R17T NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 17 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GTCACTGTACCTCTTCCTGCC 0.592 NA 89 64 0 0 0 0 ZNF257 113835 broad.mit.edu 37 19 22271543 22271543 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:22271543C>T uc010ecx.2 + 4 1160 c.991C>T c.(991-993)CTT>TTT p.L331F ZNF257_uc010ecy.2_Missense_Mutation_p.L299F NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GTCCTCAGCCCTTACTCGACA 0.423 NA 23 41 0 0 0 0 LGALS14 56891 broad.mit.edu 37 19 40197266 40197266 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:40197266T>C uc002omg.2 + 2 268 c.45T>C c.(43-45)CCT>CCC p.P15P LGALS14_uc002omf.2_Silent_p.P44P NM_020129 NP_064514 Q8TCE9 PPL13_HUMAN lectin, galactoside-binding, soluble, 14 isoform 15 Galectin. nucleus sugar binding ovary(1)|skin(1) 2 all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06) Myeloproliferative disorder(2;0.0741) Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22) TTTCCTTGCCTGTTGGTTCGT 0.498 NA 66 131 0 0 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710471 40710471 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:40710471G>A uc002ona.2 + 3 1231 c.943G>A c.(943-945)GTG>ATG p.V315M MAP3K10_uc002onb.2_Translation_Start_Site NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 315 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 GGCGTATGGCGTGGCTATGAA 0.682 NA 7 41 0 0 0 0 KCNN4 3783 broad.mit.edu 37 19 44271786 44271786 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:44271786G>A uc002oxl.2 - 8 1589 c.1193C>T c.(1192-1194)ACG>ATG p.T398M KCNN4_uc010eiz.2_Missense_Mutation_p.T322M NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 398 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CCCCGCCAGCGTGTCAATCTG 0.602 NA 33 31 0 0 0 0 TOMM40 10452 broad.mit.edu 37 19 45406351 45406351 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:45406351G>A uc002ozx.3 + 10 1112 c.1011G>A c.(1009-1011)CTG>CTA p.L337L TOMM40_uc002ozy.3_Silent_p.L337L|TOMM40_uc002paa.3_Silent_p.L337L|TOMM40_uc002ozz.2_3'UTR|APOE_uc002pab.2_5'Flank NM_006114 NP_006105 O96008 TOM40_HUMAN translocase of outer mitochondrial membrane 40 337 protein targeting to mitochondrion integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity 0 Lung NSC(12;0.0018)|all_lung(12;0.00481) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176) CCCTGCCCCTGACACTGGCCC 0.627 NA 15 52 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54313633 54313633 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54313633G>T uc002qch.3 - 3 1500 c.1280C>A c.(1279-1281)ACG>AAG p.T427K NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.T427K|NLRP12_uc002qcj.3_Missense_Mutation_p.T427K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.T427K NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 427 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGTCCTGGACGTCTGTCTCAA 0.642 NA 59 96 3.53e-34 9.02e-34 1 0 LILRA6 79168 broad.mit.edu 37 19 54744856 54744856 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54744856C>G uc002qeu.1 - 5 930 c.806G>C c.(805-807)GGC>GCC p.G269A LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.G269A|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.G269A|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.G269A|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G269A|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.G269A|LILRA6_uc010yeq.1_Missense_Mutation_p.G269A|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.G130A NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 269 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCTGCTGGCCAGGGCGCTG 0.642 NA 21 68 0 0 0 0 LILRB5 10990 broad.mit.edu 37 19 54755925 54755925 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:54755925C>G uc002qex.2 - 12 1729 c.1618G>C c.(1618-1620)GAT>CAT p.D540H LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.D532H|LILRB5_uc002qey.2_Missense_Mutation_p.D541H|LILRB5_uc002qez.2_Missense_Mutation_p.D441H|LILRB5_uc002qfa.1_3'UTR NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 540 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ACCCGAGCATCCATCTCCACC 0.627 NA 4 160 0 0 0 0 ZNF524 147807 broad.mit.edu 37 19 56114033 56114033 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:56114033G>A uc002qlk.1 + 2 638 c.555G>A c.(553-555)CTG>CTA p.L185L FIZ1_uc002qlj.3_5'Flank NM_153219 NP_694951 Q96C55 ZN524_HUMAN zinc finger protein 524 185 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGGCGAGCTGGCGCACCACC 0.736 NA 10 13 0 0 0 0 ZNF547 284306 broad.mit.edu 37 19 57888603 57888603 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr19:57888603C>A uc002qol.2 + 4 452 c.259C>A c.(259-261)CAG>AAG p.Q87K ZNF547_uc002qpm.3_Missense_Mutation_p.Q13K|ZNF547_uc010ygx.1_Missense_Mutation_p.Q87K NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 87 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCAGAATACCCAGCCCTGTGA 0.547 NA 19 31 9.77e-05 0.000202294 1 0 GREB1 9687 broad.mit.edu 37 2 11696796 11696796 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:11696796A>G uc002rbk.1 + 2 356 c.56A>G c.(55-57)CAC>CGC p.H19R GREB1_uc002rbl.2_Missense_Mutation_p.H19R|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.H19R NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 19 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAGGTCTTGCACAATTCCATC 0.512 NA 31 69 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11696840 11696840 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:11696840A>T uc002rbk.1 + 2 400 c.100A>T c.(100-102)AGG>TGG p.R34W GREB1_uc002rbl.2_Missense_Mutation_p.R34W|GREB1_uc002rbm.2_Intron|GREB1_uc002rbn.1_Missense_Mutation_p.R34W NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 34 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CCTGGTGCCCAGGCCCATCTT 0.517 NA 13 57 0 0 0 0 APOB 338 broad.mit.edu 37 2 21230159 21230159 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:21230159C>A uc002red.2 - 26 9709 c.9581G>T c.(9580-9582)TGT>TTT p.C3194F NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3194 Heparin-binding. 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) GATAAACTCACAAAGCACAGC 0.328 NA 20 41 4.97e-08 1.13e-07 1 0 ADCY3 109 broad.mit.edu 37 2 25048966 25048966 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:25048966A>T uc002rfs.3 - 15 2724 c.2525T>A c.(2524-2526)ATG>AAG p.M842K ADCY3_uc002rfr.3_Missense_Mutation_p.M429K|ADCY3_uc010ykm.1_Missense_Mutation_p.M843K NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 842 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CATCACCGTCATAGAGTACTT 0.612 NA 7 29 0 0 0 0 C2orf16 84226 broad.mit.edu 37 2 27800686 27800686 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:27800686C>T uc002rkz.3 + 1 1298 c.1247C>T c.(1246-1248)TCT>TTT p.S416F NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 416 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) ATGGAGGAATCTTTAGAGGTG 0.473 NA 8 70 0 0 0 0 RTN4 57142 broad.mit.edu 37 2 55252626 55252626 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:55252626T>A uc002rye.2 - 3 2907 c.2609A>T c.(2608-2610)GAG>GTG p.E870V RTN4_uc002ryd.2_Missense_Mutation_p.E664V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 870 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 TGTAGGGAACTCATCTATAAT 0.328 NA 8 51 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61415830 61415830 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:61415830T>A uc002sbe.2 - 80 10070 c.10048A>T c.(10048-10050)ACT>TCT p.T3350S USP34_uc002sbd.2_Missense_Mutation_p.T152S NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 3350 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TTAATGGGAGTTGCTCCTTCA 0.463 NA 20 61 0 0 0 0 ACTG2 72 broad.mit.edu 37 2 74128460 74128460 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:74128460G>A uc002sjw.2 + 2 144 c.22G>A c.(22-24)GCG>ACG p.A8T ACTG2_uc010fex.1_Missense_Mutation_p.A8T|ACTG2_uc010fey.2_Missense_Mutation_p.A8T|ACTG2_uc010yrn.1_Missense_Mutation_p.A8T NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 8 muscle contraction cytoskeleton|cytosol ATP binding 0 GGAGACCACCGCGCTCGTGTG 0.607 NA 10 42 0 0 0 0 REG3G 130120 broad.mit.edu 37 2 79254286 79254286 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:79254286G>T uc002snw.2 + 4 407 c.322G>T c.(322-324)GAC>TAC p.D108Y REG3G_uc002snx.2_Missense_Mutation_p.D108Y|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 108 C-type lectin. acute-phase response extracellular region sugar binding 0 TGGGCTCCATGACCCCACACA 0.552 NA 25 88 6.33e-13 1.53e-12 1 0 REG1A 5967 broad.mit.edu 37 2 79349170 79349171 + Missense_Mutation DNP GG GG TT TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:79349170_79349171GG>TT uc002snz.2 + 4 343_344 c.240_241GG>TT c.(238-243)GAGGGT>GATTGT p.80_81EG>DC REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.80_81EG>DC NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 80_81 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 CCCAGGCCGAGGGTGCCTTTGT 0.515 NA 31 106 0 0 0 0 VWA3B 200403 broad.mit.edu 37 2 98797619 98797619 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:98797619G>T uc002syo.2 + 9 1519 c.1255G>T c.(1255-1257)GAT>TAT p.D419Y VWA3B_uc010yvh.1_Missense_Mutation_p.D269Y|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.D419Y|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.D76Y NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 419 ovary(3)|large_intestine(2)|skin(1) 6 CCGCCACGCTGATGGGGTTGT 0.552 NA 31 103 5.83e-16 1.45e-15 1 0 VWA3B 200403 broad.mit.edu 37 2 98916586 98916586 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:98916586T>C uc002syo.2 + 25 3591 c.3327T>C c.(3325-3327)TTT>TTC p.F1109F VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Silent_p.F766F|VWA3B_uc002syp.1_Silent_p.F501F|VWA3B_uc002syq.1_Silent_p.F385F|VWA3B_uc002syr.1_Silent_p.F426F|VWA3B_uc002sys.2_RNA NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1109 ovary(3)|large_intestine(2)|skin(1) 6 CCAAAGGATTTGACTTCTATG 0.388 NA 46 131 0 0 0 0 AFF3 3899 broad.mit.edu 37 2 100210206 100210206 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:100210206C>T uc002tag.2 - 14 2153 c.1917G>A c.(1915-1917)AAG>AAA p.K639K AFF3_uc002taf.2_Silent_p.K664K|AFF3_uc010fiq.1_Silent_p.K639K|AFF3_uc010yvr.1_Silent_p.K792K|AFF3_uc002tah.1_Silent_p.K664K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 639 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGCGCAGCTCCTTGCGGTGGC 0.662 NA 14 74 0 0 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968311 102968311 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:102968311A>C uc002tbu.1 + 11 1872 c.1601A>C c.(1600-1602)CAA>CCA p.Q534P IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 534 TIR.|Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 GTGAGGTACCAAATGCCTGTG 0.488 NA 15 91 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116535404 116535404 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:116535404T>A uc002tla.1 + 15 1812 c.1355T>A c.(1354-1356)CTG>CAG p.L452Q DPP10_uc002tlb.1_Missense_Mutation_p.L402Q|DPP10_uc002tlc.1_Missense_Mutation_p.L448Q|DPP10_uc002tle.2_Missense_Mutation_p.L456Q|DPP10_uc002tlf.1_Missense_Mutation_p.L445Q NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 452 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 GGAAGGCAGCTGTACAGGTAA 0.403 NA 7 62 0 0 0 0 EPB41L5 57669 broad.mit.edu 37 2 120844792 120844792 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:120844792G>A uc002tmg.2 + 11 975 c.849G>A c.(847-849)TTG>TTA p.L283L EPB41L5_uc010flk.2_Silent_p.L283L|EPB41L5_uc010fll.2_Silent_p.L283L|EPB41L5_uc002tmh.3_Silent_p.L283L|EPB41L5_uc010flm.2_Silent_p.L87L NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 283 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 AATTAACCTTGGTGGTTGTAG 0.289 NA 13 43 0 0 0 0 GLI2 2736 broad.mit.edu 37 2 121747427 121747427 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:121747427C>G uc010flp.2 + 13 3967 c.3937C>G c.(3937-3939)CCA>GCA p.P1313A GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P985A|GLI2_uc002tmu.3_Missense_Mutation_p.P968A NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1313 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GGCTGGAGTGCCACCACCTCA 0.647 NA 3 32 0 0 0 0 SAP130 79595 broad.mit.edu 37 2 128775403 128775403 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:128775403G>C uc002tpp.2 - 3 409 c.277C>G c.(277-279)CAA>GAA p.Q93E SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.Q93E|SAP130_uc002tpq.1_Missense_Mutation_p.Q67E NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 93 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) ACAGGCTCTTGCTTCTCCTCC 0.547 NA 21 118 0 0 0 0 YSK4 80122 broad.mit.edu 37 2 135745488 135745488 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:135745488T>A uc002tue.1 - 7 985 c.954A>T c.(952-954)AAA>AAT p.K318N YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.K205N|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.K46N|YSK4_uc002tui.3_Missense_Mutation_p.K335N NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 318 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TGATTTCAATTTTGTTACATT 0.403 NA 21 47 0 0 0 0 GTDC1 79712 broad.mit.edu 37 2 144903281 144903281 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:144903281T>A uc002tvp.2 - 5 484 c.205A>T c.(205-207)AAC>TAC p.N69Y GTDC1_uc002tvo.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvq.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvr.2_Missense_Mutation_p.N69Y|GTDC1_uc010fnn.2_Missense_Mutation_p.N69Y|GTDC1_uc002tvs.2_Missense_Mutation_p.N37Y|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Missense_Mutation_p.N69Y NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 69 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) TCGGTCAGGTTAAGCACTGAA 0.438 NA 22 64 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179598434 179598434 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:179598434G>A uc010zfg.1 - 50 12174 c.11950C>T c.(11950-11952)CCT>TCT p.P3984S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P645S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4911 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGAACATCAGGGATTATCAAG 0.413 NA 39 145 0 0 0 0 PGAP1 80055 broad.mit.edu 37 2 197711732 197711732 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:197711732C>G uc002utw.2 - 22 2259 c.2145G>C c.(2143-2145)TTG>TTC p.L715F PGAP1_uc002utx.2_Missense_Mutation_p.L541F|PGAP1_uc002uty.1_3'UTR|PGAP1_uc010fsi.2_5'Flank NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 715 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 TTTACCTTTTCAAAGCTAGCC 0.333 NA 10 22 0 0 0 0 ANKRD44 91526 broad.mit.edu 37 2 197866545 197866545 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:197866545C>T uc002uua.1 - 22 2369 c.2292G>A c.(2290-2292)GAG>GAA p.E764E ANKRD44_uc002utz.3_Silent_p.E496E NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 789 ANK 23. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAAAAGTACCTCTATACAGT 0.333 NA 14 50 0 0 0 0 MARS2 92935 broad.mit.edu 37 2 198570156 198570156 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:198570156G>T uc002uuq.2 + 1 70 c.27G>T c.(25-27)CTG>CTT p.L9L uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 9 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) TCCTCCGCCTGCTAGGACGCA 0.662 NA 8 63 2.74e-10 6.49e-10 1 0 PARD3B 117583 broad.mit.edu 37 2 205989155 205989155 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:205989155G>A uc002var.1 + 9 1477 c.1270G>A c.(1270-1272)GAT>AAT p.D424N PARD3B_uc010fub.1_Missense_Mutation_p.D424N|PARD3B_uc002vao.1_Missense_Mutation_p.D424N|PARD3B_uc002vap.1_Missense_Mutation_p.D424N|PARD3B_uc002vaq.1_Missense_Mutation_p.D424N NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 424 PDZ 2. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGCAATAAAAGATGGCCGCCT 0.373 NA 22 59 0 0 0 0 ATIC 471 broad.mit.edu 37 2 216190845 216190845 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:216190845G>T uc002vex.3 + 6 689 c.515G>T c.(514-516)CGC>CTC p.R172L ATIC_uc010zjo.1_Missense_Mutation_p.R113L|ATIC_uc002vey.3_Missense_Mutation_p.R171L NM_004044 NP_004035 P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide 172 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) haematopoietic_and_lymphoid_tissue(22)|ovary(2)|lung(2)|soft_tissue(2)|skin(1) 29 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GAGACTAGACGCCAGTTAGCC 0.473 NA T ALK ALCL 12 41 9.31e-06 2e-05 1 0 STK36 27148 broad.mit.edu 37 2 219543985 219543985 + Splice_Site SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:219543985G>T uc002viu.2 + 7 1044 c.778_splice c.e7+1 p.I260_splice STK36_uc002viv.2_Splice_Site_p.I260_splice NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CATGTCACCAGTGAGTCATCA 0.507 NA 16 84 2.23e-06 4.87e-06 1 0 TGM6 343641 broad.mit.edu 37 20 2413288 2413288 + Nonstop_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:2413288G>T uc002wfy.1 + 13 2181 c.2120G>T c.(2119-2121)TGA>TTA p.*707L TGM6_uc010gal.1_3'UTR NM_198994 NP_945345 O95932 TGM3L_HUMAN transglutaminase 6 707 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(3)|skin(1) 4 L-Glutamine(DB00130) ACTGCCAAGTGATGGATCATG 0.493 NA 18 62 1.45e-14 3.56e-14 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3678550 3678550 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:3678550G>A uc002wja.2 - 8 2017 c.2017C>T c.(2017-2019)CGT>TGT p.R673C SIGLEC1_uc002wiz.3_Missense_Mutation_p.R673C NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 673 Ig-like C2-type 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.1670_1673del(1) pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 ATCTCCACACGCAGCAAGTTG 0.612 NA 10 50 0 0 0 0 HAO1 54363 broad.mit.edu 37 20 7875861 7875861 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:7875861G>T uc002wmw.1 - 5 756 c.732C>A c.(730-732)GCC>GCA p.A244A HAO1_uc010gbu.2_Silent_p.A244A NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 244 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 CAGCCTCCCTGGCATCATCAC 0.512 NA 11 70 0.00010058 0.000207695 1 0 REM1 28954 broad.mit.edu 37 20 30070276 30070276 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr20:30070276G>A uc002wwa.2 + 4 894 c.610G>A c.(610-612)GAA>AAA p.E204K NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 204 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCGCTGCCGAGAAGTCTCTGT 0.617 NA 11 46 0 0 0 0 HSF2BP 11077 broad.mit.edu 37 21 45050217 45050217 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr21:45050217G>A uc002zdi.2 - 6 892 c.560C>T c.(559-561)GCT>GTT p.A187V HSF2BP_uc011aey.1_Missense_Mutation_p.A112V NM_007031 NP_008962 O75031 HSF2B_HUMAN heat shock transcription factor 2 binding 187 spermatogenesis|transcription from RNA polymerase II promoter cytosol binding skin(1) 1 STAD - Stomach adenocarcinoma(101;0.18) GACAATTCCAGCCAGAGCGAA 0.279 NA 3 30 0 0 0 0 BCL2L13 23786 broad.mit.edu 37 22 18210216 18210216 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:18210216G>C uc002zmw.2 + 7 1592 c.1374G>C c.(1372-1374)AAG>AAC p.K458N BCL2L13_uc002zmx.2_Missense_Mutation_p.K296N|BCL2L13_uc002zmy.2_3'UTR|BCL2L13_uc010gqy.2_Missense_Mutation_p.K296N|BCL2L13_uc011agk.1_Missense_Mutation_p.K334N|BCL2L13_uc010gqz.2_Missense_Mutation_p.K178N|BCL2L13_uc002zmz.2_Missense_Mutation_p.K296N|BCL2L13_uc002zna.2_Missense_Mutation_p.K178N NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 458 B; approximate. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) CTGAGGGCAAGTCTATACTGC 0.597 NA 11 188 0 0 0 0 RNF215 200312 broad.mit.edu 37 22 30782669 30782669 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:30782669G>A uc003ahp.2 - 2 365 c.365C>T c.(364-366)GCC>GTC p.A122V RNF215_uc011akw.1_Missense_Mutation_p.A27V NM_001017981 NP_001017981 Q9Y6U7 RN215_HUMAN ring finger protein 215 122 Extracellular (Potential). integral to membrane zinc ion binding central_nervous_system(1) 1 GTGGAACTGGGCCGCCTGCTC 0.637 NA 16 71 0 0 0 0 ADSL 158 broad.mit.edu 37 22 40760320 40760320 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:40760320C>T uc003ayp.3 + 11 1201 c.1142C>T c.(1141-1143)GCC>GTC p.A381V ADSL_uc003ays.3_Missense_Mutation_p.A381V|ADSL_uc003ayq.3_Missense_Mutation_p.A395V|ADSL_uc003ayr.3_Missense_Mutation_p.A157V|ADSL_uc003ayt.3_Missense_Mutation_p.A366V NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 381 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 CCTTTCATGGCCACAGAGAAC 0.478 NA 6 38 0 0 0 0 NUP50 10762 broad.mit.edu 37 22 45571834 45571834 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr22:45571834A>G uc003bfr.2 + 4 675 c.213A>G c.(211-213)GGA>GGG p.G71G NUP50_uc003bfs.2_Silent_p.G43G|NUP50_uc011aqn.1_Intron|NUP50_uc003bft.2_Silent_p.G43G|NUP50_uc011aqo.1_5'Flank NM_007172 NP_009103 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa isoform b 71 Gly-rich. carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CTGGAGGAGGACGCTTTTCTG 0.493 NA 8 112 0 0 0 0 NUP210 23225 broad.mit.edu 37 3 13438951 13438951 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:13438951G>T uc003bxv.1 - 3 425 c.342C>A c.(340-342)GAC>GAA p.D114E NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 114 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) CATGGATGAGGTCCACAATGG 0.622 NA 13 35 2.63e-14 6.43e-14 1 0 PLCL2 23228 broad.mit.edu 37 3 17052474 17052474 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:17052474A>T uc011awc.1 + 5 1717 c.1612A>T c.(1612-1614)ACA>TCA p.T538S PLCL2_uc010het.1_3'UTR|PLCL2_uc011awd.1_Missense_Mutation_p.T420S NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 546 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 GCTCTATACAACATCACCCAA 0.388 NA 8 26 0 0 0 0 NEK10 152110 broad.mit.edu 37 3 27203967 27203967 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:27203967T>A uc010hfk.2 - 10 1160 c.931A>T c.(931-933)AAT>TAT p.N311Y NEK10_uc003cds.1_Missense_Mutation_p.N396Y|NEK10_uc010hfj.2_Intron Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 999 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TCTTTGAGATTTCGAAGAATC 0.463 NA 28 54 0 0 0 0 EOMES 8320 broad.mit.edu 37 3 27760106 27760106 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:27760106C>T uc003cdx.2 - 5 1351 c.1351G>A c.(1351-1353)GCA>ACA p.A451T EOMES_uc003cdy.3_Missense_Mutation_p.A451T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.A156T NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 451 T-box. CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 AAGCCTTTTGCAAAGGGGTTA 0.403 NA 10 37 0 0 0 0 TRANK1 9881 broad.mit.edu 37 3 36898414 36898414 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:36898414C>A uc003cgj.2 - 3 1319 c.1017G>T c.(1015-1017)CGG>CGT p.R339R NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 889 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CCGTGTAGATCCGCCCTGATT 0.522 NA 11 7 0.000673444 0.00135836 1 0 SLC22A14 9389 broad.mit.edu 37 3 38347844 38347844 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:38347844C>G uc010hhc.1 + 2 369 c.327C>G c.(325-327)CAC>CAG p.H109Q SLC22A14_uc003cia.2_Missense_Mutation_p.H109Q|SLC22A14_uc003cib.2_Missense_Mutation_p.H109Q|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 109 Extracellular (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGGGCCCCCACCTGTCCAAAG 0.532 NA 35 53 0 0 0 0 MYRIP 25924 broad.mit.edu 37 3 40231705 40231705 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:40231705G>A uc003cka.2 + 10 1551 c.1416G>A c.(1414-1416)CTG>CTA p.L472L MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.L472L|MYRIP_uc010hhw.2_Silent_p.L383L|MYRIP_uc011ayz.1_Silent_p.L285L|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 472 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGGCCAGACTGTCCTGGTTGC 0.627 NA 37 41 0 0 0 0 ABHD5 51099 broad.mit.edu 37 3 43743731 43743731 + Missense_Mutation SNP A A C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:43743731A>C uc003cmx.2 + 3 268 c.158A>C c.(157-159)GAA>GCA p.E53A NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 53 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) TACAAAAAAGAACCTGTTCGT 0.338 NA 20 24 0 0 0 0 ZNF502 91392 broad.mit.edu 37 3 44762721 44762721 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:44762721G>T uc011baa.1 + 4 667 c.412G>T c.(412-414)GAT>TAT p.D138Y ZNF502_uc003cns.2_Missense_Mutation_p.D138Y|ZNF502_uc011bab.1_Missense_Mutation_p.D138Y|ZNF502_uc003cnt.2_Missense_Mutation_p.D138Y NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ACAAACCAATGATATTTCAGA 0.388 NA 7 41 1.13e-05 2.41e-05 1 0 SEMA3F 6405 broad.mit.edu 37 3 50225414 50225414 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:50225414A>T uc003cyj.2 + 19 2422 c.2224A>T c.(2224-2226)ATC>TTC p.I742F SEMA3F_uc003cyk.2_Missense_Mutation_p.I711F NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 742 axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) AGTGGGCCTCATCCACCAGTA 0.687 NA 4 8 0 0 0 0 PCBP4 57060 broad.mit.edu 37 3 51995025 51995025 + Splice_Site SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:51995025C>A uc003dcd.1 - 2 501 c.105_splice c.e2+1 p.K35_splice PCBP4_uc003dcb.1_Splice_Site|PCBP4_uc003dcc.1_Splice_Site|PCBP4_uc003dce.1_Splice_Site_p.K35_splice|PCBP4_uc003dcf.1_Splice_Site_p.K35_splice|PCBP4_uc003dcg.1_Splice_Site|PCBP4_uc003dch.1_Splice_Site_p.K35_splice|PCBP4_uc003dci.1_Splice_Site|PCBP4_uc003dcj.1_Splice_Site_p.K35_splice|PCBP4_uc003dck.1_Splice_Site_p.K35_splice|PCBP4_uc003dcl.1_Splice_Site_p.K35_splice NM_033010 NP_127503 P57723 PCBP4_HUMAN poly(rC) binding protein 4 isoform c cytoplasm|ribonucleoprotein complex DNA binding|RNA binding 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TAGGCACCTACCTTCCCGATG 0.547 NA 17 124 0.00498961 0.00983579 1 0 BOC 91653 broad.mit.edu 37 3 112999437 112999437 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:112999437C>A uc003dzx.2 + 14 2856 c.2235C>A c.(2233-2235)ATC>ATA p.I745I BOC_uc003dzy.2_Silent_p.I745I|BOC_uc003dzz.2_Silent_p.I746I|BOC_uc003eab.2_Silent_p.I446I|BOC_uc003eac.2_Silent_p.I60I NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 745 Fibronectin type-III 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) ACACCCCAATCCATGGCTTTT 0.413 NA 10 41 0.000442599 0.000901105 1 0 C3orf30 152405 broad.mit.edu 37 3 118870107 118870107 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:118870107G>A uc003ecb.1 + 3 1619 c.1579G>A c.(1579-1581)GAC>AAC p.D527N C3orf30_uc011biw.1_Missense_Mutation_p.D526N NM_152539 NP_689752 Q96M34 CC030_HUMAN hypothetical protein LOC152405 527 ovary(2) 2 GBM - Glioblastoma multiforme(114;0.222) AAAGCCAGAGGACCCCCTGAA 0.299 NA 84 156 0 0 0 0 PLXNA1 5361 broad.mit.edu 37 3 126747090 126747090 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:126747090G>T uc003ejg.2 + 24 4511 c.4507G>T c.(4507-4509)GAC>TAC p.D1503Y PLXNA1_uc003ejh.2_Missense_Mutation_p.D171Y NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1526 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) GCTGGACTGTGACACGGTCAC 0.657 NA 12 31 1.09e-07 2.44e-07 1 0 A4GNT 51146 broad.mit.edu 37 3 137843691 137843691 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:137843691G>T uc003ers.2 - 3 640 c.438C>A c.(436-438)CTC>CTA p.L146L NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 146 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AGCTGATGTGGAGCCAGTTTC 0.587 NA 6 68 0.00198382 0.00394042 1 0 GPR149 344758 broad.mit.edu 37 3 154138924 154138924 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr3:154138924T>A uc003faa.2 - 3 1627 c.1527A>T c.(1525-1527)GAA>GAT p.E509D NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 509 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTTCTGGCCCTTCAGAAAAGG 0.413 NA 105 98 0 0 0 0 KDR 3791 broad.mit.edu 37 4 55964304 55964304 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:55964304C>A uc003has.2 - 17 2811 c.2509G>T c.(2509-2511)GGT>TGT p.G837C KDR_uc003hat.1_Missense_Mutation_p.G837C NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 837 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAAAATGCACCTAGCTTCAGC 0.423 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 7 66 5.49e-09 1.27e-08 1 0 KDR 3791 broad.mit.edu 37 4 55970955 55970955 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:55970955G>T uc003has.2 - 13 2144 c.1842C>A c.(1840-1842)GCC>GCA p.A614A KDR_uc003hat.1_Silent_p.A614A|KDR_uc011bzx.1_Silent_p.A614A NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 614 Ig-like C2-type 6.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AGAACATGGTGGCATTCAATT 0.463 NA Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 17 91 4.75e-09 1.11e-08 1 0 REST 5978 broad.mit.edu 37 4 57797980 57797980 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:57797980T>C uc003hch.2 + 4 3303 c.2956T>C c.(2956-2958)TCC>CCC p.S986P REST_uc003hci.2_Missense_Mutation_p.S986P|REST_uc010ihf.2_Missense_Mutation_p.S660P NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 986 cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding p.S986F(1) skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) TGAAGCAGTGTCCAAAACTGC 0.453 NA 3 66 0 0 0 0 PROL1 58503 broad.mit.edu 37 4 71275379 71275379 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:71275379T>C uc003hfi.2 + 3 508 c.334T>C c.(334-336)TAC>CAC p.Y112H NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 112 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) ACTAAGACCTTACTATGTAGG 0.393 NA 48 135 0 0 0 0 FRAS1 80144 broad.mit.edu 37 4 79207678 79207678 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:79207678C>A uc003hlb.2 + 14 1959 c.1519C>A c.(1519-1521)CGC>AGC p.R507S FRAS1_uc003hkw.2_Missense_Mutation_p.R507S|FRAS1_uc003hky.1_Missense_Mutation_p.R211S|FRAS1_uc003hkz.2_Missense_Mutation_p.R211S|FRAS1_uc003hla.1_Missense_Mutation_p.R18S NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 507 FU 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CTACCAAGATCGCCATTCCTG 0.622 NA 10 57 0.00010058 0.000207695 1 0 PRKG2 5593 broad.mit.edu 37 4 82061705 82061705 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:82061705C>G uc003hmh.2 - 11 1540 c.1526G>C c.(1525-1527)TGC>TCC p.C509S PRKG2_uc011ccf.1_Missense_Mutation_p.C89S|PRKG2_uc011ccg.1_Missense_Mutation_p.C89S|PRKG2_uc011cch.1_Missense_Mutation_p.C480S NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 509 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GAATGGAGAGCACAGCTCCTC 0.363 NA 11 77 0 0 0 0 HERC5 51191 broad.mit.edu 37 4 89407343 89407343 + Silent SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:89407343A>G uc003hrt.2 + 14 1968 c.1815A>G c.(1813-1815)GTA>GTG p.V605V HERC5_uc011cdm.1_Silent_p.V243V NM_016323 NP_057407 Q9UII4 HERC5_HUMAN hect domain and RLD 5 605 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity ovary(4)|lung(3)|skin(2) 9 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATTTTTTTGTAGAAGTATGCA 0.358 NA 18 43 0 0 0 0 PITX2 5308 broad.mit.edu 37 4 111539443 111539443 + Nonsense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:111539443G>C uc003iad.2 - 5 1374 c.792C>G c.(790-792)TAC>TAG p.Y264* PITX2_uc003iac.2_Nonsense_Mutation_p.Y271*|PITX2_uc003iae.2_Nonsense_Mutation_p.Y218*|PITX2_uc010iml.2_Nonsense_Mutation_p.Y135*|PITX2_uc003iaf.2_Nonsense_Mutation_p.Y264* NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 264 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) TCGGCGGCGCGTAAGGACAGG 0.592 NA 8 55 0 0 0 0 NDST3 9348 broad.mit.edu 37 4 119148127 119148127 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:119148127C>A uc003ibx.2 + 8 2212 c.1809C>A c.(1807-1809)CCC>CCA p.P603P NDST3_uc011cgf.1_Silent_p.P522P NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 603 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TAATAGGACCCCAGAAAACTG 0.368 NA 12 70 0.000978159 0.00196992 1 0 PDE5A 8654 broad.mit.edu 37 4 120446754 120446754 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:120446754G>A uc003idh.2 - 12 1884 c.1729C>T c.(1729-1731)CGG>TGG p.R577W uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R535W|PDE5A_uc003idg.2_Missense_Mutation_p.R525W|uc003idi.3_Intron NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 577 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTAAACATCCGAATTGTACAC 0.448 NA 25 42 0 0 0 0 NPY2R 4887 broad.mit.edu 37 4 156136121 156136121 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:156136121C>G uc003ioq.2 + 2 1525 c.1030C>G c.(1030-1032)CAG>GAG p.Q344E NPY2R_uc003ior.2_Missense_Mutation_p.Q344E NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 344 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CCGCTGTGAGCAGCGGTTGGA 0.512 NA 14 71 0 0 0 0 GLRB 2743 broad.mit.edu 37 4 158091726 158091726 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:158091726G>C uc003ipj.2 + 10 1542 c.1340G>C c.(1339-1341)GGA>GCA p.G447A NM_000824 NP_000815 P48167 GLRB_HUMAN glycine receptor, beta isoform A precursor 447 Cytoplasmic (Probable). nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity skin(2) 2 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GTTAACAACGGACTTGGGAAA 0.413 NA 3 47 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187522436 187522436 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:187522436T>C uc003izf.2 - 21 11815 c.11627A>G c.(11626-11628)TAT>TGT p.Y3876C NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3876 Extracellular (Potential).|Laminin G-like. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAAGATGCTATAGTCAGTTCC 0.388 NA HNSCC(5;0.00058) 3 27 0 0 0 0 TRIML1 339976 broad.mit.edu 37 4 189068327 189068327 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr4:189068327C>A uc003izm.1 + 6 1323 c.1208C>A c.(1207-1209)CCT>CAT p.P403H TRIML1_uc003izn.1_Missense_Mutation_p.P127H NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 403 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) GTCAGAGAGCCTGTGTGTAAG 0.488 NA 21 68 4.35e-09 1.02e-08 1 0 AHRR 57491 broad.mit.edu 37 5 422969 422969 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:422969G>A uc003jav.2 + 6 623 c.579G>A c.(577-579)GAG>GAA p.E193E AHRR_uc003jaw.2_Silent_p.E189E|AHRR_uc010isy.2_Silent_p.E39E|AHRR_uc010isz.2_Silent_p.E189E|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Silent_p.E49E NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) CGCCCTTGGAGACAGGTGGGT 0.602 NA 8 32 0 0 0 0 IRX2 153572 broad.mit.edu 37 5 2749089 2749089 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:2749089C>T uc003jda.2 - 3 975 c.733G>A c.(733-735)GCC>ACC p.A245T IRX2_uc003jdb.2_Missense_Mutation_p.A245T NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GGGTCCCCGGCGCGGCACGGA 0.701 NA 7 36 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11397213 11397213 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:11397213C>G uc003jfa.1 - 6 687 c.542G>C c.(541-543)GGG>GCG p.G181A CTNND2_uc010itt.2_Missense_Mutation_p.G90A|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Intron NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 181 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGTGGTTTCCCCCAGGGCCAG 0.607 NA 24 65 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13714614 13714614 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:13714614T>A uc003jfd.2 - 75 13067 c.13025A>T c.(13024-13026)AAG>ATG p.K4342M DNAH5_uc003jfc.2_Missense_Mutation_p.K510M NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4342 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) AGAGGTGTCCTTGGGTTGGAT 0.607 NA Kartagener_syndrome 15 76 0 0 0 0 PRDM9 56979 broad.mit.edu 37 5 23524491 23524491 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:23524491C>G uc003jgo.2 + 10 1181 c.999C>G c.(997-999)TTC>TTG p.F333L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 333 SET. 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 TGGTGGCCTTCCAGTACCACA 0.537 NA HNSCC(3;0.000094) 13 57 0 0 0 0 HMGCS1 3157 broad.mit.edu 37 5 43295957 43295957 + Missense_Mutation SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:43295957A>T uc003jnr.3 - 6 1009 c.802T>A c.(802-804)TGT>AGT p.C268S HMGCS1_uc003jnp.3_5'Flank|HMGCS1_uc003jnq.3_Missense_Mutation_p.C268S NM_001098272 NP_001091742 Q01581 HMCS1_HUMAN hydroxymethylglutaryl-CoA synthase 1 268 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction hydroxymethylglutaryl-CoA synthase activity 0 ACCAGTTTACAATATGGTGAG 0.353 NA 11 55 0 0 0 0 MCCC2 64087 broad.mit.edu 37 5 70952610 70952610 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:70952610C>T uc003kbs.3 + 17 1753 c.1615C>T c.(1615-1617)CTG>TTG p.L539L MCCC2_uc003kbt.3_RNA NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 539 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) AGACACCAGACTGGTCTTGGG 0.413 NA 37 74 0 0 0 0 IQGAP2 10788 broad.mit.edu 37 5 75989261 75989261 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:75989261G>T uc003kek.2 + 31 4209 c.3987G>T c.(3985-3987)GCG>GCT p.A1329A IQGAP2_uc011csv.1_Silent_p.A825A|IQGAP2_uc003kel.2_Silent_p.A825A|IQGAP2_uc010izw.1_Silent_p.A30A NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1329 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) CAGCAACTGCGCAACAGGTAA 0.363 NA 7 19 5.49e-09 1.27e-08 1 0 VCAN 1462 broad.mit.edu 37 5 82836553 82836553 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:82836553C>G uc003kii.3 + 8 8087 c.7731C>G c.(7729-7731)ATC>ATG p.I2577M VCAN_uc003kij.3_Missense_Mutation_p.I1590M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I1241M NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2577 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) AAAATACTATCATAGATATTG 0.358 NA 17 28 0 0 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559200 140559200 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140559200G>C uc011dai.1 + 1 1771 c.1585G>C c.(1585-1587)GAG>CAG p.E529Q PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 529 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGCGTTCGAGTTCCGGGT 0.677 NA 54 255 0 0 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563937 140563937 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140563937G>C uc003liv.2 + 1 2958 c.1803G>C c.(1801-1803)TGG>TGC p.W601C PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 601 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAATGCCTGGCTGTCGTACC 0.721 NA 52 40 0 0 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594219 140594219 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:140594219C>G uc003lja.1 + 1 711 c.524C>G c.(523-525)CCC>CGC p.P175R NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 175 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATAATCAGCCCCAACTCCTAT 0.493 NA 25 43 0 0 0 0 MGAT1 4245 broad.mit.edu 37 5 180219088 180219088 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr5:180219088G>T uc003mmg.3 - 2 1379 c.884C>A c.(883-885)CCG>CAG p.P295Q MGAT1_uc010jlf.2_Missense_Mutation_p.P295Q|MGAT1_uc010jlg.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmh.3_Missense_Mutation_p.P295Q|MGAT1_uc010jlh.2_Missense_Mutation_p.P295Q|MGAT1_uc003mmi.3_Missense_Mutation_p.P295Q NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 295 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGCTGCTCCGGCCGCCGCAT 0.647 NA 17 12 3.88e-16 9.64e-16 1 0 MRS2 57380 broad.mit.edu 37 6 24423169 24423169 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:24423169A>G uc003neb.2 + 10 1234 c.1112A>G c.(1111-1113)CAT>CGT p.H371R MRS2_uc003nea.2_Missense_Mutation_p.H371R|MRS2_uc011djl.1_Missense_Mutation_p.H374R|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.H321R|MRS2_uc003nec.2_Missense_Mutation_p.H248R NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 371 Mitochondrial intermembrane (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 TTTTAGGACCATAGAATTTTT 0.438 NA 40 58 0 0 0 0 C6orf25 80739 broad.mit.edu 37 6 31692374 31692374 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:31692374C>A uc011doc.1 + 4 511 c.511C>A c.(511-513)CCG>ACG p.P171T LY6G6C_uc003nwh.2_5'Flank|LY6G6C_uc010jtd.2_5'Flank|C6orf25_uc003nwk.2_Missense_Mutation_p.P171T|C6orf25_uc011dod.1_Intron|C6orf25_uc011doe.1_Silent_p.P140P|C6orf25_uc003nwo.2_Intron|C6orf25_uc003nwn.2_Missense_Mutation_p.P171T NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 171 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 GCGCCTGCCCCCGCAACCGAT 0.542 NA 14 86 2.23e-06 4.87e-06 1 0 EHMT2 10919 broad.mit.edu 37 6 31864040 31864040 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:31864040C>T uc003nxz.1 - 4 592 c.582G>A c.(580-582)CAG>CAA p.Q194Q EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Silent_p.Q251Q|EHMT2_uc003nya.1_Silent_p.Q194Q|EHMT2_uc003nyb.1_Silent_p.Q194Q|C2_uc003nyc.2_5'Flank|C2_uc011doo.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 194 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 TCCCACTCACCTGTCCATTTC 0.493 NA 44 62 0 0 0 0 TDRD6 221400 broad.mit.edu 37 6 46660541 46660541 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:46660541C>A uc003oyj.2 + 1 4676 c.4676C>A c.(4675-4677)GCA>GAA p.A1559E TDRD6_uc010jze.2_Missense_Mutation_p.A1553E NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1559 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GAACAGGTAGCAGACAGGAGA 0.388 NA 6 47 1.07e-07 2.41e-07 1 0 RFX6 222546 broad.mit.edu 37 6 117240431 117240431 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:117240431G>A uc003pxm.2 + 11 1217 c.1154G>A c.(1153-1155)CGA>CAA p.R385Q NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 385 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TCTCTGAAACGACAAACATCT 0.363 NA 9 43 0 0 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761863 130761863 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:130761863C>T uc003qca.2 + 3 1167 c.296C>T c.(295-297)ACA>ATA p.T99I TMEM200A_uc010kfh.2_Missense_Mutation_p.T99I|TMEM200A_uc010kfi.2_Missense_Mutation_p.T99I|TMEM200A_uc003qcb.2_Missense_Mutation_p.T99I NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 99 Extracellular (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) ACACTGTCAACAAATGAAACT 0.418 NA 27 42 0 0 0 0 C6orf118 168090 broad.mit.edu 37 6 165715309 165715309 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:165715309G>T uc003qum.3 - 2 538 c.502C>A c.(502-504)CCT>ACT p.P168T C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 168 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CATCCAGGAGGGCCCCGTCCA 0.622 NA 33 42 8.42e-14 2.05e-13 1 0 PDE10A 10846 broad.mit.edu 37 6 165832125 165832125 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:165832125T>C uc003qun.2 - 12 1207 c.966A>G c.(964-966)ATA>ATG p.I322M PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I252M|PDE10A_uc003quo.2_Missense_Mutation_p.I332M NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 322 GAF 2. 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) AGCTGTACCTTATCTCTTTGG 0.413 NA 19 29 0 0 0 0 MLLT4 4301 broad.mit.edu 37 6 168344628 168344628 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:168344628G>A uc003qwd.2 + 25 3365 c.3223G>A c.(3223-3225)GAA>AAA p.E1075K MLLT4_uc003qwb.1_Missense_Mutation_p.E1060K|MLLT4_uc003qwc.1_Missense_Mutation_p.E1076K|MLLT4_uc003qwg.1_Missense_Mutation_p.E385K NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1076 PDZ. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TAGGGCGGCAGAACTCATGAC 0.478 NA T MLL AL 25 38 0 0 0 0 MIOS 54468 broad.mit.edu 37 7 7622858 7622858 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:7622858G>A uc003srf.2 + 6 1811 c.1503G>A c.(1501-1503)AAG>AAA p.K501K MIOS_uc003srg.2_Silent_p.K36K|MIOS_uc010ktq.2_5'Flank NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 501 0 GGTGGATAAAGAAAGGAACGG 0.413 NA 6 84 0 0 0 0 TBRG4 9238 broad.mit.edu 37 7 45141455 45141455 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:45141455G>A uc003tmv.2 - 8 1662 c.1536C>T c.(1534-1536)CTC>CTT p.L512L TBRG4_uc003tmu.2_Silent_p.L337L|TBRG4_uc003tmw.2_Silent_p.L402L|TBRG4_uc003tmx.2_Silent_p.L402L|TBRG4_uc011kcd.1_Silent_p.L523L NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 512 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 TGGCCACCTCGAGGCTGCCCT 0.662 NA 15 62 0 0 0 0 CALN1 83698 broad.mit.edu 37 7 71571178 71571178 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:71571178C>T uc003twa.3 - 3 747 c.220G>A c.(220-222)GAG>AAG p.E74K CALN1_uc003twb.3_Missense_Mutation_p.E116K|CALN1_uc003twc.3_Missense_Mutation_p.E74K NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 74 EF-hand 2.|Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) AGCTCCACCTCGCTTGGCATG 0.597 NA 4 44 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82580057 82580057 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:82580057G>C uc003uhx.2 - 6 10136 c.9847C>G c.(9847-9849)CAG>GAG p.Q3283E PCLO_uc003uhv.2_Missense_Mutation_p.Q3283E|PCLO_uc010lec.2_Missense_Mutation_p.Q248E NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3214 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AACGTCTCCTGCCTCATCATG 0.483 NA 19 175 0 0 0 0 SAMD9 54809 broad.mit.edu 37 7 92733867 92733867 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92733867C>A uc003umf.2 - 3 1800 c.1544G>T c.(1543-1545)AGA>ATA p.R515I SAMD9_uc003umg.2_Missense_Mutation_p.R515I NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 515 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AGCTCTTTCTCTTTGCCAGGA 0.388 NA 15 156 1.36e-06 3e-06 1 0 SAMD9L 219285 broad.mit.edu 37 7 92762801 92762801 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92762801T>C uc003umh.1 - 5 3700 c.2484A>G c.(2482-2484)CGA>CGG p.R828R SAMD9L_uc003umj.1_Silent_p.R828R|SAMD9L_uc003umi.1_Silent_p.R828R|SAMD9L_uc010lfb.1_Silent_p.R828R|SAMD9L_uc003umk.1_Silent_p.R828R|SAMD9L_uc010lfc.1_Silent_p.R828R|SAMD9L_uc010lfd.1_Silent_p.R828R|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 828 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTTCATATCGCAAATCCT 0.358 NA 93 58 0 0 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92837946 92837946 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:92837946T>C uc003umm.2 - 4 982 c.959A>G c.(958-960)AAC>AGC p.N320S HEPACAM2_uc003uml.2_Missense_Mutation_p.N308S|HEPACAM2_uc010lff.2_Missense_Mutation_p.N308S|HEPACAM2_uc011khy.1_Missense_Mutation_p.N343S NM_001039372 NP_001034461 A8MVW5 HECA2_HUMAN HEPACAM family member 2 isoform 1 320 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane ovary(3)|breast(1)|kidney(1) 5 GCCGGTTATGTTGTTGTAAGC 0.408 NA 11 159 0 0 0 0 TMEM130 222865 broad.mit.edu 37 7 98449123 98449123 + Silent SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:98449123C>T uc003upo.2 - 6 1116 c.927G>A c.(925-927)GGG>GGA p.G309G TMEM130_uc011kiq.1_Silent_p.G290G|TMEM130_uc011kir.1_Silent_p.G309G|TMEM130_uc003upn.2_Silent_p.G207G NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 309 Extracellular (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCAGTAGTCCCCAGGGTCCC 0.592 NA 61 42 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100681963 100681963 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:100681963T>C uc003uxp.1 + 3 7319 c.7266T>C c.(7264-7266)GTT>GTC p.V2422V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2422 Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CAACTCCTGTTGACACCAGCA 0.512 NA 5 926 0 0 0 0 C7orf60 154743 broad.mit.edu 37 7 112555359 112555359 + Splice_Site SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:112555359A>G uc003vgo.1 - 2 429 c.302_splice c.e2+1 p.S101_splice C7orf60_uc011kms.1_Splice_Site_p.S127_splice NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 ovary(2)|skin(1) 3 AAAAGTACTTACCTACAACAC 0.259 NA 32 52 0 0 0 0 ANKRD7 56311 broad.mit.edu 37 7 117874864 117874864 + Missense_Mutation SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:117874864G>A uc003vji.2 + 3 577 c.404G>A c.(403-405)GGT>GAT p.G135D NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 135 ANK 3. male gonad development 0 GCTGTTTGTGGTCAAAGTTTG 0.333 NA 24 43 0 0 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192549 132192549 + Missense_Mutation SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:132192549G>C uc003vra.3 - 2 1133 c.904C>G c.(904-906)CGC>GGC p.R302G PLXNA4_uc003vrc.2_Missense_Mutation_p.R302G|PLXNA4_uc003vrb.2_Missense_Mutation_p.R302G NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 302 Extracellular (Potential).|Sema. integral to membrane|intracellular|plasma membrane ovary(1) 1 ACCCCACTGCGCTCACAGCCA 0.592 NA 11 41 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141794549 141794549 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:141794549G>T uc003vwy.2 + 40 4710 c.4656G>T c.(4654-4656)ACG>ACT p.T1552T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1552 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGTTTCAGACGGGAGCAGATA 0.473 NA 8 46 1.07e-07 2.41e-07 1 0 KCNH2 3757 broad.mit.edu 37 7 150647315 150647315 + Missense_Mutation SNP T T A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:150647315T>A uc003wic.2 - 9 2352 c.2339A>T c.(2338-2340)TAC>TTC p.Y780F KCNH2_uc003wib.2_Missense_Mutation_p.Y440F|KCNH2_uc011kux.1_Missense_Mutation_p.Y684F|KCNH2_uc003wid.2_Missense_Mutation_p.Y440F|KCNH2_uc003wie.2_Missense_Mutation_p.Y780F NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 780 Cytoplasmic (Potential).|cNMP. blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) GGAGATGAAGTACAGGGCGGT 0.652 NA 12 128 0 0 0 0 SGCZ 137868 broad.mit.edu 37 8 13948034 13948034 + Missense_Mutation SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:13948034C>G uc003wwq.2 - 8 1517 c.857G>C c.(856-858)TGC>TCC p.C286S SGCZ_uc010lss.2_Missense_Mutation_p.C239S NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN sarcoglycan zeta 273 Extracellular (Potential). cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma ovary(2)|central_nervous_system(1) 3 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) GCCATTGGGGCAGACGCAGAG 0.498 NA 15 69 0 0 0 0 STC1 6781 broad.mit.edu 37 8 23702425 23702425 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:23702425T>G uc003xdw.1 - 4 886 c.602A>C c.(601-603)CAC>CCC p.H201P NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 201 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TTGGGCACAGTGGTCTGTCTG 0.542 NA 13 48 0 0 0 0 ADAM2 2515 broad.mit.edu 37 8 39682379 39682379 + Missense_Mutation SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:39682379T>C uc003xnj.2 - 4 301 c.226A>G c.(226-228)AGT>GGT p.S76G ADAM2_uc003xnk.2_Missense_Mutation_p.S76G|ADAM2_uc011lck.1_Missense_Mutation_p.S76G|ADAM2_uc003xnl.2_Missense_Mutation_p.S76G NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 76 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) CCTGTGCCACTATAACTGTAA 0.274 NA 8 30 0 0 0 0 CHRNB3 1142 broad.mit.edu 37 8 42563960 42563960 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:42563960T>C uc003xpi.1 + 2 281 c.153T>C c.(151-153)AAT>AAC p.N51N NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 51 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TACATTCTAATGACACCATAA 0.408 NA 32 56 0 0 0 0 ASPH 444 broad.mit.edu 37 8 62438587 62438587 + Missense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:62438587C>T uc003xuj.2 - 22 2118 c.1849G>A c.(1849-1851)GAA>AAA p.E617K ASPH_uc011leg.1_Missense_Mutation_p.E588K NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 617 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CTCAGGTTTTCATCCTCAGGC 0.483 NA 47 113 0 0 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242004 87242004 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:87242004A>G uc003ydq.1 - 1 601 c.503T>C c.(502-504)GTG>GCG p.V168A SLC7A13_uc003ydr.1_Missense_Mutation_p.V168A NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 168 Helical; Name=5; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 AAGTATGGACACTTTCAGCAC 0.418 NA 17 72 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113301698 113301698 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:113301698G>T uc003ynu.2 - 57 9203 c.9044C>A c.(9043-9045)TCT>TAT p.S3015Y CSMD3_uc003yns.2_Missense_Mutation_p.S2217Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S2975Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S2846Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3015 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGAACAGTAGACCCAAAAGT 0.423 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 67 6.33e-15 1.56e-14 1 0 ASAP1 50807 broad.mit.edu 37 8 131070203 131070203 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:131070203C>A uc003yta.1 - 28 3340 c.3312G>T c.(3310-3312)TGG>TGT p.W1104C ASAP1_uc003ysz.1_Missense_Mutation_p.W915C|ASAP1_uc011liw.1_Missense_Mutation_p.W1097C NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 1104 SH3. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TACGTACCCACCACTCCTGGT 0.512 NA 68 94 6.21e-33 1.58e-32 1 0 COL22A1 169044 broad.mit.edu 37 8 139728521 139728521 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr8:139728521G>T uc003yvd.2 - 29 2859 c.2412C>A c.(2410-2412)GGC>GGA p.G804G COL22A1_uc011ljo.1_Silent_p.G104G NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 804 Pro-rich.|Gly-rich.|Collagen-like 6. 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) CCCCTGGGAGGCCTGCTTCTC 0.587 NA HNSCC(7;0.00092) 3 12 6.4e-05 0.0001341 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971029 21971029 + Nonsense_Mutation SNP C C T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:21971029C>T uc003zpk.2 - 2 541 c.329G>A c.(328-330)TGG>TAG p.W110* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 110 ANK 4. 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.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(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) CAGACGGCCCCAGGCATCGCG 0.731 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) 42 19 0 0 0 0 DNAI1 27019 broad.mit.edu 37 9 34490414 34490414 + Silent SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:34490414C>A uc003zum.2 + 7 742 c.549C>A c.(547-549)CCC>CCA p.P183P NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 183 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CTAAGCAGCCCAAGGAGAGAA 0.498 NA Kartagener_syndrome 230 120 5.96e-76 1.54e-75 1 0 TJP2 9414 broad.mit.edu 37 9 71845073 71845073 + Silent SNP G G C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:71845073G>C uc004ahe.2 + 11 1796 c.1596G>C c.(1594-1596)GGG>GGC p.G532G TJP2_uc011lrs.1_Silent_p.G509G|TJP2_uc011lrt.1_Silent_p.G509G|TJP2_uc004ahd.2_Silent_p.G532G|TJP2_uc004ahf.2_Silent_p.G532G|TJP2_uc011lru.1_Silent_p.G536G|TJP2_uc011lrv.1_Silent_p.G554G NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 532 PDZ 3. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 ATGATGTCGGGATATTTGTTG 0.517 NA 40 67 0 0 0 0 TJP2 9414 broad.mit.edu 37 9 71866155 71866155 + Nonsense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:71866155G>T uc004ahe.2 + 21 3396 c.3196G>T c.(3196-3198)GAG>TAG p.E1066* TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Nonsense_Mutation_p.E1033*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E1088*|TJP2_uc010mom.1_Intron NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 1066 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GGAGGTGGGAGAGAGCAGTGA 0.502 NA 17 35 8.6e-14 2.1e-13 1 0 TRPM6 140803 broad.mit.edu 37 9 77436731 77436731 + Silent SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:77436731G>T uc004ajl.1 - 8 1102 c.864C>A c.(862-864)GTC>GTA p.V288V TRPM6_uc004ajk.1_Silent_p.V283V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Silent_p.V288V|TRPM6_uc010mpd.1_Silent_p.V288V|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 288 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CCAGCCCCACGACCGGCACGC 0.572 NA 19 29 5.04e-11 1.2e-10 1 0 PTPN3 5774 broad.mit.edu 37 9 112189263 112189263 + Missense_Mutation SNP T T G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:112189263T>G uc004bed.2 - 12 1080 c.968A>C c.(967-969)CAG>CCG p.Q323P PTPN3_uc004beb.2_Missense_Mutation_p.Q192P|PTPN3_uc004bec.2_Missense_Mutation_p.Q192P|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Q323P|PTPN3_uc011lwh.1_Missense_Mutation_p.Q214P|PTPN3_uc011lwe.1_Missense_Mutation_p.Q36P|PTPN3_uc011lwf.1_Missense_Mutation_p.Q36P NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 323 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 AGTCCAGTACTGAGACAGAAC 0.438 NA 37 43 0 0 0 0 PTGS1 5742 broad.mit.edu 37 9 125154726 125154726 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:125154726G>T uc004bmg.1 + 11 1838 c.1703G>T c.(1702-1704)TGC>TTC p.C568F PTGS1_uc011lys.1_Missense_Mutation_p.C506F|PTGS1_uc010mwb.1_Missense_Mutation_p.C422F|PTGS1_uc004bmf.1_Missense_Mutation_p.C531F|PTGS1_uc004bmh.1_Missense_Mutation_p.C459F|PTGS1_uc011lyt.1_Missense_Mutation_p.C459F NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 568 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) AAGCTGGTCTGCCTCAACACC 0.577 NA 40 65 1.5e-21 3.77e-21 1 0 PKN3 29941 broad.mit.edu 37 9 131482522 131482522 + Missense_Mutation SNP A A G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:131482522A>G uc004bvw.2 + 21 2810 c.2417A>G c.(2416-2418)GAG>GGG p.E806G PKN3_uc010myh.2_Intron|PKN3_uc011mbk.1_Missense_Mutation_p.E356G NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 806 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 GGGGCAGGTGAGCAGGATGCC 0.642 NA 21 20 0 0 0 0 ABL1 25 broad.mit.edu 37 9 133738362 133738362 + Silent SNP G G A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr9:133738362G>A uc004bzw.2 + 4 765 c.762G>A c.(760-762)GGG>GGA p.G254G ABL1_uc004bzv.2_Silent_p.G273G|uc004bzx.1_5'Flank NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 254 Protein kinase.|ATP. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCAGTACGGGGAGGTGTACG 0.617 NA T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 10 40 0 0 0 0 CYBB 1536 broad.mit.edu 37 X 37651299 37651299 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:37651299T>C uc004ddr.2 + 4 385 c.324T>C c.(322-324)ATT>ATC p.I108I CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Silent_p.I76I|CYBB_uc011mkg.1_5'UTR NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 108 Ferric oxidoreductase.|Helical; (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CATGGATGATTGCACTTCACT 0.383 NA 5 12 0 0 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83411200 83411200 + Splice_Site SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:83411200C>A uc004eej.1 - 3 219 c.142_splice c.e3-1 p.D48_splice RPS6KA6_uc011mqt.1_Splice_Site_p.D48_splice|RPS6KA6_uc011mqu.1_Splice_Site|RPS6KA6_uc010nmo.1_Splice_Site NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 CTCCTTCATCCTGTAAAAAGA 0.358 NA 5 6 0.00116845 0.00233152 1 0 TGIF2LX 90316 broad.mit.edu 37 X 89177580 89177580 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:89177580C>A uc004efe.2 + 2 545 c.496C>A c.(496-498)CAG>AAG p.Q166K NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 166 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCCAAAGGGCCAGATGTCAAG 0.592 NA 11 21 6.4e-05 0.0001341 1 0 RBM41 55285 broad.mit.edu 37 X 106312633 106312633 + Splice_Site SNP C C G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:106312633C>G uc004emz.2 - 6 959 c.928_splice c.e6-1 p.V310_splice RBM41_uc004emy.1_Splice_Site_p.V310_splice NM_018301 NP_060771 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 nucleotide binding|RNA binding ovary(1) 1 GGTATAATACCTAAAACAAAT 0.313 NA 37 65 0 0 0 0 DCX 1641 broad.mit.edu 37 X 110576307 110576307 + Silent SNP A A T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:110576307A>T uc004epd.2 - 4 1195 c.1023T>A c.(1021-1023)GCT>GCA p.A341A DCX_uc011msv.1_Silent_p.A341A|DCX_uc004epe.2_Silent_p.A260A|DCX_uc004epf.2_Silent_p.A260A|DCX_uc004epg.2_Silent_p.A260A NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 341 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 AATCATCCTGAGCATAGCGAA 0.393 NA 8 5 0 0 0 0 ATP1B4 23439 broad.mit.edu 37 X 119509289 119509289 + Missense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:119509289C>A uc004esr.2 + 5 709 c.625C>A c.(625-627)CAA>AAA p.Q209K ATP1B4_uc004esq.2_Missense_Mutation_p.Q205K|ATP1B4_uc011mtx.1_Missense_Mutation_p.Q174K|ATP1B4_uc011mty.1_Missense_Mutation_p.Q166K NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 209 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 GTACTTCATCCAAGATGGCAA 0.458 NA 109 34 2.34e-34 6.01e-34 1 0 BCORL1 63035 broad.mit.edu 37 X 129154964 129154964 + Missense_Mutation SNP G G T TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:129154964G>T uc004evb.1 + 5 3560 c.3446G>T c.(3445-3447)CGG>CTG p.R1149L BCORL1_uc010nrd.1_Missense_Mutation_p.R1051L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1149 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 CCACAGTGCCGGAAGCTGCCC 0.552 NA 41 16 8.01e-26 2.03e-25 1 0 IGSF1 3547 broad.mit.edu 37 X 130408088 130408088 + Nonsense_Mutation SNP C C A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:130408088C>A uc004ewd.2 - 19 4082 c.3844G>T c.(3844-3846)GAG>TAG p.E1282* IGSF1_uc004ewe.3_Nonsense_Mutation_p.E1276*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.E1262* NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1282 Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 TTCTTCCACTCTATGGCTAGC 0.502 NA 120 84 2.28e-34 5.87e-34 1 0 CXorf66 347487 broad.mit.edu 37 X 139038574 139038574 + Silent SNP T T C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:139038574T>C uc004fbb.2 - 3 589 c.567A>G c.(565-567)GAA>GAG p.E189E NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 189 Cytoplasmic (Potential). integral to membrane 0 TACATAATTTTTCTAGGCTGC 0.413 NA 25 125 0 0 0 0 EIF2C3 192669 broad.mit.edu 37 1 36509068 36509068 + Frame_Shift_Del DEL C C - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:36509068delC uc001bzp.2 + 17 2449 c.2193delC c.(2191-2193)ATCfs p.I731fs EIF2C3_uc001bzq.2_Frame_Shift_Del_p.I497fs NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 731 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGGCAATATCCCAGCTGGAA 0.353 NA 14 25 --- --- --- --- NA NA NA NA CELSR2 1952 broad.mit.edu 37 1 109815846 109815858 + Frame_Shift_Del DEL AGAGAGTAGTGGC AGAGAGTAGTGGC - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:109815846_109815858delAGAGAGTAGTGGC uc001dxa.3 + 32 8458_8470 c.8397_8409delAGAGAGTAGTGGC c.(8395-8409)AAAGAGAGTAGTGGCfs p.K2799fs NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2799_2803 Cytoplasmic (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCACAGCAAAAGAGAGTAGTGGCAACGGGGCCC 0.638 NA 16 72 --- --- --- --- NA NA NA NA FLG 2312 broad.mit.edu 37 1 152277899 152277899 + Frame_Shift_Del DEL G G - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152277899delG uc001ezu.1 - 3 9499 c.9463delC c.(9463-9465)CAGfs p.Q3155fs NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3155 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCTGACTGCCCACGGGAG 0.557 NA Ichthyosis 30 225 --- --- --- --- NA NA NA NA FLG 2312 broad.mit.edu 37 1 152278871 152278871 + Frame_Shift_Del DEL G G - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:152278871delG uc001ezu.1 - 3 8527 c.8491delC c.(8491-8493)CAGfs p.Q2831fs NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2831 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATCCTGACTGCCCACGGGAG 0.572 NA Ichthyosis 66 671 --- --- --- --- NA NA NA NA C1orf186 440712 broad.mit.edu 37 1 206243246 206243247 + Frame_Shift_Ins INS - - G TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr1:206243246_206243247insG uc001hdt.1 - 3 654_655 c.15_16insC c.(13-18)GTCATGfs p.V5fs NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN hypothetical protein LOC440712 5_6 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(75;0.0754) CAGACCTCCATGACTCTGTTGG 0.332 NA 10 68 --- --- --- --- NA NA NA NA TROAP 10024 broad.mit.edu 37 12 49722998 49722998 + Frame_Shift_Del DEL C C - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr12:49722998delC uc001rtx.3 + 10 1242 c.1075delC c.(1075-1077)CCCfs p.P359fs TROAP_uc009zlh.2_Frame_Shift_Del_p.P359fs|TROAP_uc001rty.2_Frame_Shift_Del_p.P67fs NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 359 cell adhesion cytoplasm ovary(1) 1 CCGGTTCACACCCATGCCATC 0.547 NA 40 227 --- --- --- --- NA NA NA NA FREM2 341640 broad.mit.edu 37 13 39343779 39343793 + In_Frame_Del DEL AGTGCAGTTCAACCC AGTGCAGTTCAACCC - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr13:39343779_39343793delAGTGCAGTTCAACCC uc001uwv.2 + 4 5784_5798 c.5475_5489delAGTGCAGTTCAACCC c.(5473-5490)CAAGTGCAGTTCAACCCA>CAA p.VQFNP1826del FREM2_uc001uww.2_5'UTR NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1826_1830 Calx-beta 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CACAGAAACAAGTGCAGTTCAACCCAGGCCAGACC 0.479 NA 8 46 --- --- --- --- NA NA NA NA RILP 83547 broad.mit.edu 37 17 1552568 1552570 + In_Frame_Del DEL CCT CCT - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:1552568_1552570delCCT uc002ftd.2 - 3 647_649 c.353_355delAGG c.(352-357)GAGGTC>GTC p.E118del NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 118 Potential. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGGTCCGTGACCTCCTTGAGCTG 0.542 NA 4 3 --- --- --- --- NA NA NA NA RAD51C 5889 broad.mit.edu 37 17 56772501 56772501 + Frame_Shift_Del DEL A A - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr17:56772501delA uc002iwu.2 + 2 397 c.355delA c.(355-357)AAAfs p.K119fs RAD51C_uc002iwt.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010woa.1_Frame_Shift_Del_p.K119fs|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 119 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCCCTTAATGAAAACAACAGA 0.398 NA Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 15 30 --- --- --- --- NA NA NA NA ATP6V1C2 245973 broad.mit.edu 37 2 10912735 10912738 + Splice_Site DEL AAGT AAGT - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:10912735_10912738delAAGT uc002ras.2 + 8 747 c.638_splice c.e8+1 p.K213_splice ATP6V1C2_uc002rat.2_Splice_Site_p.K213_splice NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) TCGATCAACCAAGTAAGTGAGACC 0.525 NA 47 254 --- --- --- --- NA NA NA NA APOB 338 broad.mit.edu 37 2 21231819 21231819 + Frame_Shift_Del DEL T T - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr2:21231819delT uc002red.2 - 26 8049 c.7921delA c.(7921-7923)ATCfs p.I2641fs NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2641 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) CTGGATGGGATTTTTATATTT 0.358 NA 19 122 --- --- --- --- NA NA NA NA LAMA4 3910 broad.mit.edu 37 6 112512959 112512959 + Frame_Shift_Del DEL A A - TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr6:112512959delA uc003pvu.2 - 6 906 c.597delT c.(595-597)TTTfs p.F199fs LAMA4_uc003pvv.2_Frame_Shift_Del_p.F199fs|LAMA4_uc003pvt.2_Frame_Shift_Del_p.F199fs NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 199 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CACAATCTTCAAAGATCAGGT 0.483 NA 11 34 --- --- --- --- NA NA NA NA RELN 5649 broad.mit.edu 37 7 103126741 103126742 + Frame_Shift_Ins INS - - A TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chr7:103126741_103126742insA uc003vca.2 - 61 10045_10046 c.9885_9886insT c.(9883-9888)TGTGGGfs p.C3295fs RELN_uc010liz.2_Frame_Shift_Ins_p.C3295fs NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3295_3296 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCAGCTGCCCACAGCCACTTC 0.515 NA 64 82 --- --- --- --- NA NA NA NA IRS4 8471 broad.mit.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-CV-7254-01A-11D-2012-08 TCGA-CV-7254-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fd22e861-571e-44da-82b6-b128e07d1963 137bf35f-72e9-46a3-a79c-251a58a698d5 g.chrX:107977802_107977803insC uc004eoc.2 - 1 1805_1806 c.1772_1773insG c.(1771-1773)GGCfs p.G591fs NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 591 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CTGAGCCTTTGCCCCCCCCAGA 0.545 NA 7 331 --- --- --- --- NA NA NA NA