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 PANK4 55229 broad.mit.edu 37 1 2452658 2452658 + Missense_Mutation SNP C C T rs140699365 by1000genomes TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:2452658C>T uc001ajm.1 - 3 313 c.304G>A c.(304-306)GAA>AAA p.E102K PANK4_uc010nza.1_Missense_Mutation_p.E102K NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 102 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGGCAGGCTTCGATGTAGGTA 0.507 NA 39 104 0 0 0 0 NBPF1 55672 broad.mit.edu 37 1 16913608 16913608 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:16913608T>C uc009vos.1 - 11 1603 c.715A>G c.(715-717)ACT>GCT p.T239A NBPF1_uc009vot.1_5'UTR|NBPF1_uc001ayz.1_5'UTR|NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 239 NBPF 1. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACAACCAGAGTTGAGTTGACT 0.448 NA 4 68 0 0 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510922 26510922 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:26510922C>T uc001bln.3 + 12 1110 c.1052C>T c.(1051-1053)CCC>CTC p.P351L CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Missense_Mutation_p.P344L|CNKSR1_uc009vsd.2_Missense_Mutation_p.P86L|CNKSR1_uc009vse.2_Missense_Mutation_p.P86L|CNKSR1_uc001blo.2_Missense_Mutation_p.P86L NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 351 Pro-rich. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GAGCCCCTGCCCATCCCCCCG 0.637 NA 6 21 0 0 0 0 TXLNA 200081 broad.mit.edu 37 1 32660790 32660790 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:32660790G>T uc001bui.2 + 11 1700 c.1635G>T c.(1633-1635)AGG>AGT p.R545S TXLNA_uc001buj.2_Missense_Mutation_p.R545S NM_175852 NP_787048 P40222 TXLNA_HUMAN taxilin 545 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CCTCCGCCAGGGCCTAGAGAG 0.647 NA 18 28 6.94e-10 1.56e-09 1 0 CSMD2 114784 broad.mit.edu 37 1 34204749 34204749 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:34204749C>T uc001bxn.1 - 15 2269 c.2240G>A c.(2239-2241)CGG>CAG p.R747Q CSMD2_uc001bxm.1_Missense_Mutation_p.R787Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 747 Sushi 4.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCTTCACACCGCAGCACAGC 0.617 NA 8 16 0 0 0 0 POU3F1 5453 broad.mit.edu 37 1 38511546 38511546 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:38511546C>G uc001ccp.1 - 1 905 c.870G>C c.(868-870)CAG>CAC p.Q290H NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 290 POU-specific. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGATGGTGGTCTGCGAGAACA 0.612 NA 15 67 0 0 0 0 COL9A2 1298 broad.mit.edu 37 1 40767556 40767556 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:40767556G>A uc001cfh.1 - 31 1868 c.1798C>T c.(1798-1800)CGT>TGT p.R600C COL9A2_uc001cfi.1_Missense_Mutation_p.R419C NM_001852 NP_001843 Q14055 CO9A2_HUMAN alpha 2 type IX collagen precursor 600 Triple-helical region 2 (COL2). axon guidance|skeletal system development collagen type IX ovary(2) 2 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.08e-17) TTCTCTCCACGTTTTCCTGTA 0.488 NA 5 18 0 0 0 0 ROR1 4919 broad.mit.edu 37 1 64644143 64644143 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:64644143G>T uc001dbj.2 + 9 2818 c.2419G>T c.(2419-2421)GGC>TGC p.G807C uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 807 Cytoplasmic (Potential).|Pro-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 TGGTTTCATTGGCCCGCCAAT 0.517 NA 15 38 4.15e-12 9.62e-12 1 0 LRRC7 57554 broad.mit.edu 37 1 70460276 70460276 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:70460276G>A uc001dep.2 + 9 880 c.850G>A c.(850-852)GAT>AAT p.D284N LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 284 LRR 12. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TCTAAAAGTAGATGACAATCA 0.328 NA 14 64 0 0 0 0 FAM73A 374986 broad.mit.edu 37 1 78324717 78324717 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:78324717G>T uc001dhx.2 + 9 1123 c.1091G>T c.(1090-1092)GGA>GTA p.G364V FAM73A_uc010ork.1_Missense_Mutation_p.G364V|FAM73A_uc010orl.1_Missense_Mutation_p.G326V|FAM73A_uc001dhy.1_Missense_Mutation_p.G153V NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 364 integral to membrane ovary(1) 1 Colorectal(170;0.226) GTTGAAGAAGGAAAAATTTAC 0.383 NA 6 35 3.6e-05 6.97e-05 1 0 F3 2152 broad.mit.edu 37 1 94997876 94997876 + Splice_Site SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:94997876C>T uc001dqr.2 - 5 930 c.751_splice c.e5+1 p.E251_splice F3_uc001dqp.2_Splice_Site|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron NM_001993 NP_001984 P13726 TF_HUMAN coagulation factor III precursor activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding central_nervous_system(1) 1 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) GAGCCACTCACCTCTGAATTC 0.542 NA 16 54 0 0 0 0 F3 2152 broad.mit.edu 37 1 94997899 94997899 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:94997899G>T uc001dqr.2 - 5 908 c.729C>A c.(727-729)GGC>GGA p.G243G F3_uc001dqp.2_RNA|F3_uc001dqq.2_Intron|F3_uc001dqs.2_Intron NM_001993 NP_001984 P13726 TF_HUMAN coagulation factor III precursor 243 Extracellular (Potential). activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding central_nervous_system(1) 1 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CTTTCTCCTGGCCCATACACT 0.532 NA 17 62 1.78e-19 4.33e-19 1 0 RPTN 126638 broad.mit.edu 37 1 152128617 152128617 + Missense_Mutation SNP T T C rs12117644 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:152128617T>C uc001ezs.1 - 3 1023 c.958A>G c.(958-960)AGT>GGT p.S320G NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 320 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TCCGTCTGACTGTAGTGGGAA 0.507 NA 6 838 0 0 0 0 IVL 3713 broad.mit.edu 37 1 152882573 152882573 + Silent SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:152882573A>G uc001fau.2 + 2 346 c.300A>G c.(298-300)AAA>AAG p.K100K NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 100 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AATATCAGAAAGCAGAAAACC 0.323 NA 16 32 0 0 0 0 PEAR1 375033 broad.mit.edu 37 1 156882415 156882415 + Splice_Site SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:156882415G>T uc001fqj.1 + 17 2325 c.2209_splice c.e17+1 p.G737_splice PEAR1_uc001fqk.1_Splice_Site_p.G362_splice NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCAGGATTGGTGAGTTCTTT 0.602 NA 37 36 4.63e-21 1.13e-20 1 0 SPTA1 6708 broad.mit.edu 37 1 158641851 158641851 + Nonsense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:158641851C>A uc001fst.1 - 11 1685 c.1486G>T c.(1486-1488)GAG>TAG p.E496* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 496 Spectrin 6. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCCGTTACCTCTTGTCTACTC 0.493 NA 40 47 3.71e-28 9.19e-28 1 0 LRRC52 440699 broad.mit.edu 37 1 165532977 165532977 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:165532977C>T uc001gde.2 + 2 914 c.858C>T c.(856-858)GAC>GAT p.D286D LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 286 Cytoplasmic (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) AAGATGAGGACGAGGCCGGGA 0.572 NA 5 50 0 0 0 0 SELP 6403 broad.mit.edu 37 1 169565302 169565302 + Nonsense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:169565302G>T uc001ggi.3 - 12 2027 c.1962C>A c.(1960-1962)TAC>TAA p.Y654* SELP_uc001ggh.2_Nonsense_Mutation_p.Y489*|SELP_uc009wvr.2_Nonsense_Mutation_p.Y654* NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 654 Extracellular (Potential).|Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GATGCCTACAGTACATGGTTC 0.498 NA 61 238 5.11e-33 1.27e-32 1 0 SELP 6403 broad.mit.edu 37 1 169572435 169572435 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:169572435G>T uc001ggi.3 - 10 1599 c.1534C>A c.(1534-1536)CCT>ACT p.P512T SELP_uc001ggh.2_Missense_Mutation_p.P347T|SELP_uc009wvr.2_Missense_Mutation_p.P512T NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 512 Extracellular (Potential).|Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CTTAGCAAAGGTGTGCAGGGA 0.383 NA 42 68 2.25e-20 5.48e-20 1 0 VASH2 79805 broad.mit.edu 37 1 213134597 213134597 + Splice_Site SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:213134597G>T uc001hjy.2 + 2 569 c.365_splice c.e2+1 p.Q122_splice VASH2_uc001hju.2_Splice_Site_p.Q122_splice|VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Splice_Site_p.Q57_splice|VASH2_uc010ptn.1_Splice_Site_p.Q18_splice|VASH2_uc001hjw.2_Splice_Site_p.H122_splice NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN vasohibin 2 isoform 3 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm 0 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) AGACCCTACAGTATCCTTCCA 0.537 NA 46 89 7.05e-23 1.73e-22 1 0 SMYD2 56950 broad.mit.edu 37 1 214488115 214488115 + Nonsense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:214488115G>A uc010ptx.1 + 3 281 c.248G>A c.(247-249)TGG>TAG p.W83* SMYD2_uc009xdj.2_5'UTR|SMYD2_uc010ptw.1_RNA|SMYD2_uc009xdl.1_RNA NM_020197 NP_064582 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 83 MYND-type. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) AAAGAAGATTGGCCCATGCAC 0.428 NA 10 52 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215987092 215987092 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:215987092G>C uc001hku.1 - 49 10112 c.9725C>G c.(9724-9726)GCT>GGT p.A3242G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3242 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) TAGAATTCTAGCGTAATACCC 0.418 NA HNSCC(13;0.011) 13 60 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216595476 216595476 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:216595476T>A uc001hku.1 - 2 590 c.203A>T c.(202-204)CAC>CTC p.H68L USH2A_uc001hkv.2_Missense_Mutation_p.H68L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 68 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) AGCAGAGCTGTGACAAAAAGT 0.493 NA HNSCC(13;0.011) 21 26 0 0 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089179 220089179 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:220089179C>A uc001hlw.2 - 4 1281 c.1070G>T c.(1069-1071)AGG>ATG p.R357M SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.R112M|SLC30A10_uc001hlx.2_Missense_Mutation_p.R132M NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 357 Cytoplasmic (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TTGATATCCCCTGTCCTTAGG 0.453 NA 19 99 3.52e-12 8.17e-12 1 0 HHIPL2 79802 broad.mit.edu 37 1 222721186 222721186 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:222721186G>A uc001hnh.1 - 1 259 c.201C>T c.(199-201)TTC>TTT p.F67F NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 67 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CACAGCAGCCGAAGGACTCAT 0.567 NA 8 43 0 0 0 0 URB2 9816 broad.mit.edu 37 1 229773042 229773042 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:229773042C>T uc001hts.1 + 4 2818 c.2682C>T c.(2680-2682)ATC>ATT p.I894I URB2_uc009xfd.1_Silent_p.I894I NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 894 nucleolus central_nervous_system(2)|ovary(1) 3 TGGAAAGCATCCTGGGGCTTT 0.498 NA 54 85 0 0 0 0 HEATR1 55127 broad.mit.edu 37 1 236729217 236729217 + Splice_Site SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:236729217A>T uc001hyd.1 - 31 4560 c.4435_splice c.e31+1 p.E1479_splice HEATR1_uc009xgh.1_Splice_Site_p.E641_splice NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATCTACGCTTACCTTCTTTTT 0.383 NA 17 46 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237777666 237777666 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:237777666C>A uc001hyl.1 + 37 5358 c.5238C>A c.(5236-5238)CAC>CAA p.H1746Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1746 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACAAAAAACACGGCCTTCCAG 0.517 NA 12 38 3.07e-06 6.26e-06 1 0 FMN2 56776 broad.mit.edu 37 1 240371390 240371390 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:240371390G>T uc010pyd.1 + 5 3503 c.3278G>T c.(3277-3279)GGA>GTA p.G1093V FMN2_uc010pye.1_Missense_Mutation_p.G1097V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1093 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) CCTCTACCCGGAGCGGGCATA 0.726 NA 5 22 0.00198382 0.00355328 1 0 CEP170 9859 broad.mit.edu 37 1 243349134 243349134 + Nonsense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:243349134C>A uc001hzs.2 - 10 1921 c.1513G>T c.(1513-1515)GAG>TAG p.E505* CEP170_uc001hzt.2_Intron|CEP170_uc001hzu.2_Intron NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 505 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) TTCTCTAACTCAATGGTATAA 0.353 NA 24 107 9.78e-22 2.4e-21 1 0 KIF26B 55083 broad.mit.edu 37 1 245849896 245849896 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:245849896G>A uc001ibf.1 + 12 4051 c.3611G>A c.(3610-3612)AGC>AAC p.S1204N KIF26B_uc001ibg.1_Missense_Mutation_p.S822N|KIF26B_uc001ibh.1_Missense_Mutation_p.S446N NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 1204 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) GTCCTGGACAGCGGCCGCCCC 0.657 NA 4 13 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247599410 247599410 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:247599410C>A uc001icr.2 + 8 2775 c.2637C>A c.(2635-2637)GCC>GCA p.A879A NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.A879A|NLRP3_uc001icw.2_Silent_p.A822A|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.A857A NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 879 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GTGAAAAAGCCAAGAATCCAC 0.438 NA 17 29 6.94e-10 1.56e-09 1 0 OR2M4 26245 broad.mit.edu 37 1 248402450 248402450 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:248402450A>T uc010pzh.1 + 1 220 c.220A>T c.(220-222)ATC>TTC p.I74F NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|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;0.0245) CCTCATGCTCATCTGCACCAC 0.458 NA 18 86 0 0 0 0 OR2T6 254879 broad.mit.edu 37 1 248551255 248551255 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr1:248551255G>C uc001iei.1 + 1 346 c.346G>C c.(346-348)GGG>CGG p.G116R NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) CTTCCTGCTGGGGCTCATGGC 0.567 NA 18 62 0 0 0 0 GDI2 2665 broad.mit.edu 37 10 5836966 5836966 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:5836966C>T uc001iil.3 - 4 561 c.270G>A c.(268-270)ATG>ATA p.M90I GDI2_uc001iim.3_Intron|GDI2_uc009xid.2_Missense_Mutation_p.M94I NM_001494 NP_001485 P50395 GDIB_HUMAN GDP dissociation inhibitor 2 isoform 1 90 protein transport|small GTPase mediated signal transduction cell surface|cytosol|membrane protein binding|Rab GDP-dissociation inhibitor activity 0 TATAAAGCAGCATCTTAACCA 0.333 NA 27 37 0 0 0 0 GATA3 2625 broad.mit.edu 37 10 8100316 8100316 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:8100316T>A uc001ika.2 + 3 847 c.290T>A c.(289-291)CTG>CAG p.L97Q GATA3_uc001ijz.2_Missense_Mutation_p.L97Q NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 97 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CTACCCTGGCTGGACGGCGGC 0.687 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 15 98 0 0 0 0 MBL2 4153 broad.mit.edu 37 10 54529051 54529051 + Nonsense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:54529051G>C uc001jjt.2 - 3 394 c.329C>G c.(328-330)TCA>TGA p.S110* NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 110 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 TTTTCTTTCTGAGGCAGCCAG 0.408 NA 19 106 0 0 0 0 RTKN2 219790 broad.mit.edu 37 10 63957982 63957982 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:63957982G>A uc001jlw.2 - 12 1612 c.1515C>T c.(1513-1515)CCC>CCT p.P505P RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.2_Silent_p.P159P NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 505 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) AAGGAGGAAGGGGAGCTTGTC 0.398 NA 29 123 0 0 0 0 CTNNA3 29119 broad.mit.edu 37 10 67726465 67726465 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:67726465G>A uc009xpn.1 - 17 2428 c.2305C>T c.(2305-2307)CTG>TTG p.L769L CTNNA3_uc001jmw.2_Silent_p.L769L NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 769 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 ATCTGTTCCAGGTAGGCCAAC 0.403 NA 12 46 0 0 0 0 KIAA0913 23053 broad.mit.edu 37 10 75560118 75560118 + Silent SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:75560118C>G uc009xrl.2 + 23 4931 c.4899C>G c.(4897-4899)ACC>ACG p.T1633T KIAA0913_uc001jve.2_Silent_p.T1638T|KIAA0913_uc001jvf.2_Silent_p.T1451T|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Silent_p.T1060T|KIAA0913_uc010qkr.1_Silent_p.T1048T|KIAA0913_uc001jvj.2_Silent_p.T1048T|KIAA0913_uc009xrn.1_Silent_p.T44T NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 1633 Pro-rich. zinc ion binding breast(1) 1 Prostate(51;0.0112) CTGCCCTGACCACACAGCCCA 0.607 NA 17 76 0 0 0 0 LRIT1 26103 broad.mit.edu 37 10 85992040 85992040 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:85992040G>T uc001kcz.1 - 4 1537 c.1515C>A c.(1513-1515)CCC>CCA p.P505P NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 505 Fibronectin type-III.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GCTCCTTCCGGGGCACCAGGC 0.552 NA 6 15 8.13e-05 0.000155366 1 0 FAM190B 54462 broad.mit.edu 37 10 86133458 86133458 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:86133458C>T uc001kdh.1 + 3 1695 c.1501C>T c.(1501-1503)CTC>TTC p.L501F FAM190B_uc001kdg.1_Missense_Mutation_p.L501F|FAM190B_uc010qmd.1_Missense_Mutation_p.L501F NM_018999 NP_061872 Q9H7U1 F190B_HUMAN granule cell antiserum positive 14 501 ovary(3)|skin(1) 4 TTCGTTTGAACTCTCTCCATC 0.428 NA 6 27 0 0 0 0 PLCE1 51196 broad.mit.edu 37 10 96064340 96064340 + Nonsense_Mutation SNP C C T rs121912604 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:96064340C>T uc001kjk.2 + 25 6194 c.5560C>T c.(5560-5562)CAG>TAG p.Q1854* PLCE1_uc010qnx.1_Nonsense_Mutation_p.Q1838*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.Q1546*|PLCE1_uc001kjp.2_Nonsense_Mutation_p.Q212* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1854 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CCCCATGTATCAGAAGTTTTC 0.433 NA 18 80 0 0 0 0 C10orf76 79591 broad.mit.edu 37 10 103771498 103771498 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:103771498G>C uc009xwy.1 - 11 915 c.813C>G c.(811-813)TTC>TTG p.F271L NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 271 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) TTAAAGCAGAGAAAAAACCAC 0.358 NA 8 32 0 0 0 0 COL17A1 1308 broad.mit.edu 37 10 105793987 105793987 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:105793987C>T uc001kxr.2 - 52 4041 c.3872G>A c.(3871-3873)GGT>GAT p.G1291D COL17A1_uc001kxq.2_5'Flank NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 1291 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGAGCTGCTACCCCGACTGTG 0.672 NA 4 21 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108377909 108377909 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:108377909T>A uc001kym.2 - 21 2926 c.2918A>T c.(2917-2919)TAT>TTT p.Y973F SORCS1_uc001kyl.2_Missense_Mutation_p.Y973F|SORCS1_uc009xxs.2_Missense_Mutation_p.Y973F|SORCS1_uc001kyn.1_Missense_Mutation_p.Y973F|SORCS1_uc001kyo.2_Missense_Mutation_p.Y973F NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 973 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCACTCACCATATACTGCGAT 0.478 NA 13 61 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135012615 135012615 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:135012615G>T uc001llz.1 + 14 2604 c.2603G>T c.(2602-2604)CGG>CTG p.R868L KNDC1_uc001lma.1_Missense_Mutation_p.R803L|KNDC1_uc001lmb.1_Missense_Mutation_p.R280L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 868 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGAGGCCGCGGCCCGCAGAC 0.731 NA 4 12 0.00024832 0.000464718 1 0 FRG2B 441581 broad.mit.edu 37 10 135440300 135440300 + Splice_Site SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr10:135440300G>C uc010qvg.1 - 1 1 c.-52_splice c.e1-1 NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B nucleus 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GCAGAGTGTGGGTTAGTCTGC 0.522 NA 4 28 0 0 0 0 OR51G1 79324 broad.mit.edu 37 11 4945221 4945221 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:4945221G>A uc010qyr.1 - 1 349 c.349C>T c.(349-351)CTG>TTG p.L117L NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGATAACAGAACTGATGAC 0.507 NA 10 30 0 0 0 0 OR51I2 390064 broad.mit.edu 37 11 5474807 5474807 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:5474807C>A uc010qzf.1 + 1 89 c.89C>A c.(88-90)CCC>CAC p.P30H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCAGGGCCCCTCTGCGTG 0.557 NA 19 29 2.35e-11 5.39e-11 1 0 TRIM5 85363 broad.mit.edu 37 11 5701005 5701005 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:5701005C>A uc001mbm.1 - 2 660 c.403G>T c.(403-405)GCC>TCC p.A135S TRIM5_uc001mbq.1_Missense_Mutation_p.A135S|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.A135S|TRIM5_uc001mbo.2_Missense_Mutation_p.A135S|TRIM5_uc001mbp.2_Missense_Mutation_p.A135S NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 135 Potential. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TACTCCCGGGCAACCTCCTCT 0.512 NA 11 53 6.4e-05 0.000123112 1 0 OR52N1 79473 broad.mit.edu 37 11 5809561 5809561 + Silent SNP A A C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:5809561A>C uc010qzo.1 - 1 486 c.486T>G c.(484-486)ACT>ACG p.T162T TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 162 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGGTGAGGAAAGTGGAAGGGA 0.498 NA 10 33 0 0 0 0 OR56A1 120796 broad.mit.edu 37 11 6048932 6048932 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:6048932C>A uc010qzw.1 - 1 3 c.3G>T c.(1-3)ATG>ATT p.M1I NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGGCTGAATCATGAGCTGAG 0.458 NA 31 86 8.17e-17 1.95e-16 1 0 ABCC8 6833 broad.mit.edu 37 11 17426158 17426158 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:17426158A>T uc001mnc.2 - 28 3584 c.3458T>A c.(3457-3459)CTG>CAG p.L1153Q NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1153 Helical; Name=14; (By similarity).|ABC transmembrane type-1 2. 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) GATGACGGCCAGGGCTGAGAC 0.597 NA 8 12 0 0 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396420 22396420 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:22396420C>A uc001mqk.2 + 9 1574 c.1161C>A c.(1159-1161)ATC>ATA p.I387I NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 387 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TGAGAAAGATCATGAATTGTG 0.353 NA 24 85 1.85e-09 4.12e-09 1 0 OR4A5 81318 broad.mit.edu 37 11 51411502 51411502 + Silent SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:51411502G>C uc001nhi.1 - 1 894 c.894C>G c.(892-894)CTC>CTG p.L298L NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) TTTTACCCAAGAGTTTTTCTA 0.353 NA 4 10 0 0 0 0 OR5D14 219436 broad.mit.edu 37 11 55563722 55563722 + Missense_Mutation SNP C C A rs143761060 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:55563722C>A uc010rim.1 + 1 691 c.691C>A c.(691-693)CGT>AGT p.R231S NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ACTAAAAATCCGTTCTGTTAG 0.473 NA 15 81 3.46e-05 6.8e-05 1 0 OR5L1 219437 broad.mit.edu 37 11 55579653 55579653 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:55579653C>T uc001nhw.1 + 1 711 c.711C>T c.(709-711)GCC>GCT p.A237A NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GGCACAAAGCCTTCTCCACCT 0.502 NA 23 68 0 0 0 0 OR5AR1 219493 broad.mit.edu 37 11 56432020 56432020 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:56432020C>A uc010rjm.1 + 1 859 c.859C>A c.(859-861)CCC>ACC p.P287T NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGTTAAATCCCTTGATCTA 0.408 NA 10 38 2.18e-05 4.3e-05 1 0 OR5B17 219965 broad.mit.edu 37 11 58126434 58126434 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:58126434G>T uc010rke.1 - 1 109 c.109C>A c.(109-111)CTG>ATG p.L37M NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN olfactory receptor, family 5, subfamily B, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTCCCAGTCAGAGTGATGAGG 0.458 NA 10 61 0.000442599 0.000813707 1 0 OR4D10 390197 broad.mit.edu 37 11 59245729 59245729 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:59245729C>A uc001nnz.1 + 1 827 c.827C>A c.(826-828)ACT>AAT p.T276N NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GTCACCTTCACTGTCATCTCC 0.527 NA 28 113 2.61e-14 6.17e-14 1 0 FEN1 2237 broad.mit.edu 37 11 61563897 61563897 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:61563897G>T uc001nsg.2 + 2 1436 c.1064G>T c.(1063-1065)CGC>CTC p.R355L NM_004111 NP_004102 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 355 base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity ovary(1) 1 TCAGCTAAGCGCAAGGAGCCA 0.532 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 5 20 0.000602214 0.00109749 1 0 PACS1 55690 broad.mit.edu 37 11 65995047 65995047 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:65995047G>T uc001oha.1 + 11 1500 c.1366G>T c.(1366-1368)GAC>TAC p.D456Y PACS1_uc010rou.1_5'Flank NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 456 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 GACTGAAACAGACACTCTGGT 0.373 NA 5 23 1.24e-05 2.47e-05 1 0 NDUFS8 4728 broad.mit.edu 37 11 67803822 67803822 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:67803822G>C uc001onc.2 + 6 582 c.475G>C c.(475-477)GCC>CCC p.A159P NDUFS8_uc009ysb.1_RNA|NDUFS8_uc009ysc.1_Missense_Mutation_p.A159P|TCIRG1_uc001ond.1_5'Flank|TCIRG1_uc001one.2_5'Flank NM_002496 NP_002487 O00217 NDUS8_HUMAN NADH dehydrogenase ubiquinone Fe-S 8 precursor 159 4Fe-4S ferredoxin-type 2. mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) CTGCCAGGAGGCCTGTCCCGT 0.652 NA 7 35 0 0 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238392 71238393 + Missense_Mutation DNP GG GG AT TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:71238392_71238393GG>AT uc001oqq.1 + 1 80_81 c.46_47GG>AT c.(46-48)GGC>ATC p.G16I NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 16 keratin filament 0 CGGCTGTGGGGGCTGTGGCTCC 0.658 NA 345 193 0 0 0 0 MMP8 4317 broad.mit.edu 37 11 102595499 102595499 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:102595499T>C uc001phe.2 - 1 187 c.88A>G c.(88-90)ACA>GCA p.T30A MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_Translation_Start_Site NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 30 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACAGTTTTTGTATTTTTCTCT 0.363 NA 39 116 0 0 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123480966 123480966 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:123480966C>T uc001pyx.2 + 13 1739 c.1410C>T c.(1408-1410)CAC>CAT p.H470H GRAMD1B_uc001pyw.2_Silent_p.H477H|GRAMD1B_uc010rzw.1_Silent_p.H430H|GRAMD1B_uc010rzx.1_Silent_p.H430H|GRAMD1B_uc001pyy.2_Silent_p.H161H NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 470 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TCCTCACCCACGACGTGCCCT 0.542 NA 17 46 0 0 0 0 OR8B3 390271 broad.mit.edu 37 11 124266426 124266426 + Silent SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:124266426A>T uc010saj.1 - 1 822 c.822T>A c.(820-822)TCT>TCA p.S274S OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGTAGAAAACAGAAGAAACTT 0.403 NA 16 65 0 0 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130286106 130286106 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr11:130286106A>G uc001qgg.3 - 4 1574 c.1216T>C c.(1216-1218)TCC>CCC p.S406P NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 406 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTGCAGGGGGACCAGGGCAGC 0.677 NA 2 4 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2690864 2690864 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:2690864G>T uc009zdu.1 + 14 2317 c.2004G>T c.(2002-2004)CTG>CTT p.L668L CACNA1C_uc009zdv.1_Silent_p.L665L|CACNA1C_uc001qkb.2_Silent_p.L668L|CACNA1C_uc001qkc.2_Silent_p.L668L|CACNA1C_uc001qke.2_Silent_p.L668L|CACNA1C_uc001qkf.2_Silent_p.L668L|CACNA1C_uc001qjz.2_Silent_p.L668L|CACNA1C_uc001qkd.2_Silent_p.L668L|CACNA1C_uc001qkg.2_Silent_p.L668L|CACNA1C_uc009zdw.1_Silent_p.L668L|CACNA1C_uc001qkh.2_Silent_p.L668L|CACNA1C_uc001qkl.2_Silent_p.L668L|CACNA1C_uc001qkn.2_Silent_p.L668L|CACNA1C_uc001qko.2_Silent_p.L668L|CACNA1C_uc001qkp.2_Silent_p.L668L|CACNA1C_uc001qkr.2_Silent_p.L668L|CACNA1C_uc001qku.2_Silent_p.L668L|CACNA1C_uc001qkq.2_Silent_p.L668L|CACNA1C_uc001qks.2_Silent_p.L668L|CACNA1C_uc001qkt.2_Silent_p.L668L|CACNA1C_uc001qka.1_Silent_p.L203L|CACNA1C_uc001qki.1_Silent_p.L404L|CACNA1C_uc001qkj.1_Silent_p.L404L|CACNA1C_uc001qkk.1_Silent_p.L404L|CACNA1C_uc001qkm.1_Silent_p.L404L|CACNA1C_uc001qkw.2_5'Flank NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 668 II.|Helical; Name=S5 of repeat II; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) tctccctcctGGGGATGCAGC 0.423 NA 4 29 0.00024832 0.000464718 1 0 FOXJ2 55810 broad.mit.edu 37 12 8196611 8196611 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:8196611G>T uc001qtu.2 + 5 1627 c.542G>T c.(541-543)GGA>GTA p.G181V FOXJ2_uc001qtt.1_Missense_Mutation_p.G181V NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 181 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) GCAGGGAGTGGAGAAGCCTCA 0.542 NA 20 89 7.21e-19 1.74e-18 1 0 GRIN2B 2904 broad.mit.edu 37 12 13716163 13716163 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:13716163C>G uc001rbt.2 - 13 4188 c.4009G>C c.(4009-4011)GCC>CCC p.A1337P NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1337 Cytoplasmic (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) AACATGTGGGCGTAGGGGCTC 0.612 NA 28 67 0 0 0 0 SLCO1B3 28234 broad.mit.edu 37 12 20968719 20968719 + Nonsense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:20968719C>G uc001rek.2 + 2 173 c.47C>G c.(46-48)TCA>TGA p.S16* SLCO1B3_uc001rel.2_Nonsense_Mutation_p.S16*|SLCO1B3_uc010sil.1_Nonsense_Mutation_p.S16*|LST-3TM12_uc010sim.1_Nonsense_Mutation_p.S16* NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 16 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TCAGCATCTTCAGAGAAAAAG 0.299 NA 8 39 0 0 0 0 LST-3TM12 338821 broad.mit.edu 37 12 21196321 21196321 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:21196321G>T uc010sin.1 + 6 640 c.640G>T c.(640-642)GGT>TGT p.G214C SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.G261C NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 214 membrane transporter activity 0 TTGGTGGCTTGGTTTCCTTGT 0.363 NA 21 139 7.42e-09 1.63e-08 1 0 SOX5 6660 broad.mit.edu 37 12 23689547 23689547 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:23689547C>G uc001rfw.2 - 14 1930 c.1828G>C c.(1828-1830)GCC>CCC p.A610P SOX5_uc001rfx.2_Missense_Mutation_p.A597P|SOX5_uc001rfy.2_Missense_Mutation_p.A489P|SOX5_uc001rfv.2_Missense_Mutation_p.A224P|SOX5_uc010siv.1_Missense_Mutation_p.A597P|SOX5_uc010siw.1_RNA NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 610 HMG box. transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CTGAGACGGGCTTGCTCCTCA 0.493 NA 31 89 0 0 0 0 IPO8 10526 broad.mit.edu 37 12 30792543 30792543 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:30792543G>A uc001rjd.2 - 21 2565 c.2395C>T c.(2395-2397)CAT>TAT p.H799Y IPO8_uc001rje.1_Missense_Mutation_p.H288Y|IPO8_uc010sjt.1_Missense_Mutation_p.H594Y NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 799 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TCTAAAGTATGTAGCAGCAAA 0.403 NA 25 49 0 0 0 0 ACVRL1 94 broad.mit.edu 37 12 52309931 52309931 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:52309931C>A uc001rzj.2 + 8 1443 c.1160C>A c.(1159-1161)ACG>AAG p.T387K ACVRL1_uc001rzk.2_Missense_Mutation_p.T387K|ACVRL1_uc010snm.1_Missense_Mutation_p.T213K NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 387 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CAGATCCGCACGGACTGCTTT 0.612 NA Hereditary_Hemorrhagic_Telangiectasia 11 54 0.000673444 0.00122373 1 0 MARS 4141 broad.mit.edu 37 12 57908991 57908991 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:57908991A>G uc001sog.2 + 18 2286 c.2263A>G c.(2263-2265)ATG>GTG p.M755V MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.M521V|MARS_uc001soh.1_3'UTR NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 755 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) GCTCTCTGTCATGCTTCAGCC 0.547 NA 44 42 0 0 0 0 GEFT 115557 broad.mit.edu 37 12 58009731 58009731 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:58009731C>T uc001spb.2 + 13 1811 c.1351C>T c.(1351-1353)CCT>TCT p.P451S GEFT_uc009zpy.2_Missense_Mutation_p.P490S|GEFT_uc001spa.2_Missense_Mutation_p.P345S|uc001spc.2_Intron|GEFT_uc001spd.2_Missense_Mutation_p.P156S NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 451 PH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) GGCTGCAGACCCTGCTATCAG 0.592 NA 25 105 0 0 0 0 NAV3 89795 broad.mit.edu 37 12 78562638 78562638 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:78562638C>A uc001syp.2 + 24 5146 c.4973C>A c.(4972-4974)CCT>CAT p.P1658H NAV3_uc001syo.2_Missense_Mutation_p.P1658H|NAV3_uc010sub.1_Missense_Mutation_p.P1144H|NAV3_uc009zsf.2_Missense_Mutation_p.P489H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1658 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CCAGACCATCCTCCCAAAGGT 0.378 NA HNSCC(70;0.22) 19 75 1.16e-05 2.31e-05 1 0 UTP20 27340 broad.mit.edu 37 12 101679354 101679354 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:101679354G>A uc001tia.1 + 3 289 c.133G>A c.(133-135)GAA>AAA p.E45K UTP20_uc009ztz.1_Missense_Mutation_p.E45K NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 45 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 ACAGGAGGTTGAAACCTACTT 0.308 NA 20 50 0 0 0 0 NCOR2 9612 broad.mit.edu 37 12 124862827 124862827 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:124862827G>A uc010tba.1 - 18 2240 c.2123C>T c.(2122-2124)TCG>TTG p.S708L NCOR2_uc010tay.1_Missense_Mutation_p.S708L|NCOR2_uc010taz.1_Missense_Mutation_p.S708L|NCOR2_uc010tbb.1_Missense_Mutation_p.S708L|NCOR2_uc010tbc.1_Missense_Mutation_p.S707L|NCOR2_uc001ugj.1_Missense_Mutation_p.S708L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 708 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCTCACGCCCGACGCCTCCAT 0.667 NA 24 50 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926854 130926854 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:130926854C>A uc001uil.2 - 8 1156 c.992G>T c.(991-993)AGC>ATC p.S331I RIMBP2_uc001uim.2_Missense_Mutation_p.S239I|RIMBP2_uc001uin.1_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 331 Fibronectin type-III 1. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GACGTTGTAGCTGCTCACCGT 0.562 NA 19 99 1.96e-10 4.44e-10 1 0 MRP63 78988 broad.mit.edu 37 13 21751049 21751049 + Splice_Site SNP A A C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:21751049A>C uc001unw.2 + 2 486 c.-4_splice c.e2-2 SKA3_uc001unt.2_5'Flank|SKA3_uc001unv.2_5'Flank|SKA3_uc001unu.2_5'Flank NM_024026 NP_076931 Q9BQC6 RT63_HUMAN mitochondrial ribosomal protein 63 0 all_cancers(29;2.76e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.43e-05)|Epithelial(112;0.000285)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|Lung(94;0.0932) TCTCTTCCGCAGGCACCATGT 0.716 NA 3 46 0 0 0 0 PARP4 143 broad.mit.edu 37 13 25033197 25033197 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:25033197A>T uc001upl.2 - 20 2515 c.2409T>A c.(2407-2409)CAT>CAA p.H803Q PARP4_uc010tdc.1_Missense_Mutation_p.H803Q NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 803 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GTTTCAGTTCATGTGTATCAC 0.269 NA 7 25 0 0 0 0 RXFP2 122042 broad.mit.edu 37 13 32313845 32313845 + Splice_Site SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:32313845T>C uc001utt.2 + 1 165 c.94_splice c.e1+2 p.D32_splice RXFP2_uc010aba.2_Splice_Site_p.D15_splice NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) ATGTCAAAGGTAAGGTTGCTA 0.313 NA 37 36 0 0 0 0 SOHLH2 54937 broad.mit.edu 37 13 36748876 36748876 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:36748876G>C uc001uvj.2 - 7 861 c.772C>G c.(772-774)CCA>GCA p.P258A SOHLH2_uc010tei.1_Missense_Mutation_p.P335A NM_017826 NP_060296 Q9NX45 SOLH2_HUMAN spermatogenesis and oogenesis specific basic 258 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273) ATAACGGCTGGAGAGATTTTC 0.368 NA 19 40 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58206853 58206853 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:58206853G>C uc001vhq.1 + 1 1065 c.173G>C c.(172-174)CGC>CCC p.R58P PCDH17_uc010aec.1_Missense_Mutation_p.R58P NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 58 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGCGGAGGGCGCAGCAAGTCG 0.692 NA 4 12 0 0 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369426 86369426 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:86369426C>T uc001vll.1 - 2 1677 c.1218G>A c.(1216-1218)TCG>TCA p.S406S SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 406 Extracellular (Potential).|LRR 7. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GGTTCATAAACGATCCTTCTT 0.338 NA 9 18 0 0 0 0 F10 2159 broad.mit.edu 37 13 113803734 113803734 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:113803734C>A uc001vsx.2 + 8 1427 c.1370C>A c.(1369-1371)GCC>GAC p.A457D F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 457 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) AAGGTCACCGCCTTCCTCAAG 0.572 NA 19 61 5.35e-07 1.13e-06 1 0 FOXG1 2290 broad.mit.edu 37 14 29237169 29237169 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr14:29237169C>A uc001wqe.2 + 1 883 c.684C>A c.(682-684)TCC>TCA p.S228S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 228 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGCAGAACTCCATCCGCCACA 0.597 NA 15 9 2.32e-09 5.15e-09 1 0 CTAGE5 4253 broad.mit.edu 37 14 39790183 39790183 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr14:39790183G>T uc001wvg.3 + 19 1931 c.1595G>T c.(1594-1596)AGA>ATA p.R532I CTAGE5_uc010tqe.1_Missense_Mutation_p.R494I|CTAGE5_uc001wuz.3_Missense_Mutation_p.R520I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R452I|CTAGE5_uc001wvb.3_Intron|CTAGE5_uc001wvc.3_Intron|CTAGE5_uc001wva.3_Missense_Mutation_p.R503I|CTAGE5_uc001wvh.3_Intron|CTAGE5_uc001wvf.3_Missense_Mutation_p.R457I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R537I|CTAGE5_uc010amz.2_Missense_Mutation_p.R148I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R503I NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 532 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) TCTGAAACAAGAGCTTTTCTC 0.418 NA 21 76 1.4e-16 3.34e-16 1 0 TIMM9 26520 broad.mit.edu 37 14 58875876 58875876 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr14:58875876G>A uc010aph.2 - 4 361 c.146C>T c.(145-147)TCA>TTA p.S49L TIMM9_uc001xds.2_Missense_Mutation_p.S49L|TIMM9_uc010api.2_Missense_Mutation_p.S49L NM_012460 NP_036592 Q9Y5J7 TIM9_HUMAN translocase of inner mitochondrial membrane 9 49 Twin CX3C motif. protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex zinc ion binding 0 GCAATGTTCTGAACAGGTGGT 0.348 NA 23 15 0 0 0 0 CKB 1152 broad.mit.edu 37 14 103986585 103986585 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr14:103986585G>C uc001ynf.1 - 7 921 c.841C>G c.(841-843)CTC>GTC p.L281V CKB_uc001yne.1_Missense_Mutation_p.L103V|CKB_uc010awr.1_Missense_Mutation_p.L212V NM_001823 NP_001814 P12277 KCRB_HUMAN brain creatine kinase 281 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity 0 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GGGCAGGTGAGGATGTAGCCC 0.557 NA 10 30 0 0 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408248 105408248 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr14:105408248G>C uc010axc.1 - 7 13660 c.13540C>G c.(13540-13542)CAG>GAG p.Q4514E AHNAK2_uc001ypx.2_Missense_Mutation_p.Q4414E NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4514 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAAGGGGCCTGAATGCGGAGG 0.627 NA 25 63 0 0 0 0 MKRN3 7681 broad.mit.edu 37 15 23811612 23811612 + Nonsense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr15:23811612C>A uc001ywh.3 + 1 1159 c.683C>A c.(682-684)TCA>TAA p.S228* MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Nonsense_Mutation_p.S228* NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 228 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CTACAGAGCTCAGAGACTGAG 0.582 NA 14 33 1.52e-12 3.55e-12 1 0 ITGAL 3683 broad.mit.edu 37 16 30518144 30518144 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:30518144G>A uc002dyi.3 + 21 2651 c.2475G>A c.(2473-2475)CCG>CCA p.P825P ITGAL_uc002dyj.3_Silent_p.P741P|ITGAL_uc010vev.1_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN integrin alpha L isoform a precursor 825 Extracellular (Potential). blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity ovary(3)|lung(3)|central_nervous_system(3)|breast(1) 10 Efalizumab(DB00095) ACTTCCCCCCGGGACTCTCCT 0.602 NA 32 147 0 0 0 0 MYLK3 91807 broad.mit.edu 37 16 46771727 46771727 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:46771727C>T uc002eei.3 - 3 1013 c.897G>A c.(895-897)GAG>GAA p.E299E MYLK3_uc010vge.1_Intron|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 299 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TCGTGCCTTCCTCTAAGGGCT 0.667 NA 21 116 0 0 0 0 GPT2 84706 broad.mit.edu 37 16 46956246 46956246 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:46956246C>A uc002eel.2 + 9 1224 c.1130C>A c.(1129-1131)CCC>CAC p.P377H GPT2_uc002eem.2_Missense_Mutation_p.P277H|GPT2_uc002een.2_5'Flank NM_133443 NP_597700 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase 2 isoform 1 377 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CGCCTGTGCCCCCCAGTGTCT 0.612 NA 18 50 2.39e-15 5.66e-15 1 0 NLRC5 84166 broad.mit.edu 37 16 57060492 57060492 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:57060492G>T uc002ekk.1 + 6 1862 c.1637G>T c.(1636-1638)CGC>CTC p.R546L NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.R351L|NLRC5_uc002ekl.2_Missense_Mutation_p.R351L|NLRC5_uc002ekm.2_Missense_Mutation_p.R351L|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 546 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CTCCATTCCCGCTGGGTACAG 0.612 NA 35 64 3.66e-26 9.03e-26 1 0 LRRC36 55282 broad.mit.edu 37 16 67404886 67404886 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:67404886T>C uc002esv.2 + 9 1254 c.1235T>C c.(1234-1236)GTA>GCA p.V412A LRRC36_uc002esw.2_RNA|LRRC36_uc010ceh.2_Missense_Mutation_p.V144A|LRRC36_uc002esx.2_Missense_Mutation_p.V291A|LRRC36_uc010vjk.1_Missense_Mutation_p.V291A|LRRC36_uc010vjl.1_5'UTR|LRRC36_uc002esy.2_Intron NM_018296 NP_060766 Q1X8D7 LRC36_HUMAN leucine rich repeat containing 36 isoform 1 412 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161) GACCCTGCTGTACTTGTCAAT 0.388 NA 36 99 0 0 0 0 THAP11 57215 broad.mit.edu 37 16 67876755 67876755 + Missense_Mutation SNP G G T rs142722815 by1000genomes TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:67876755G>T uc002euo.2 + 1 543 c.298G>T c.(298-300)GCC>TCC p.A100S CENPT_uc002eun.3_Intron NM_020457 NP_065190 Q96EK4 THA11_HUMAN THAP domain containing 11 100 Poly-Ala. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) ggccgcggccgcccgccgcAG 0.308 NA 6 26 1.26e-09 2.82e-09 1 0 CDH1 999 broad.mit.edu 37 16 68853297 68853297 + Silent SNP G G A rs35741240 byFrequency TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:68853297G>A uc002ewg.1 + 11 1804 c.1680G>A c.(1678-1680)ACG>ACA p.T560T CDH1_uc010vlj.1_Intron|CDH1_uc010cfg.1_Silent_p.T499T NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 560 Extracellular (Potential).|Cadherin 4. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AGAACAGCACGTACACAGCCC 0.542 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 12 33 0 0 0 0 ATP2C2 9914 broad.mit.edu 37 16 84495694 84495694 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:84495694C>A uc002fhx.2 + 26 2770 c.2681C>A c.(2680-2682)CCG>CAG p.P894Q ATP2C2_uc010chj.2_Missense_Mutation_p.P923Q|ATP2C2_uc002fhy.2_Missense_Mutation_p.P911Q|ATP2C2_uc002fhz.2_Missense_Mutation_p.P743Q|ATP2C2_uc002fia.2_Missense_Mutation_p.P205Q NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 894 Helical; Name=9; (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 TACATCCCCCCGCTGCAGAGG 0.617 NA 19 106 5.35e-07 1.13e-06 1 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:7577106G>A uc002gim.2 - 8 1026 c.832C>T c.(832-834)CCT>TCT p.P278S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 278 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and 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.P278L(52)|p.P278S(48)|p.P278R(26)|p.P278T(21)|p.P278A(18)|p.P278H(11)|p.0?(7)|p.P278fs*67(5)|p.P278F(3)|p.P278fs*28(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(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) TCTCTCCCAGGACAGGCACAA 0.552 111 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) 8 28 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578211 7578211 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:7578211C>A uc002gim.2 - 6 832 c.638G>T c.(637-639)CGA>CTA p.R213L TP53_uc002gig.1_Missense_Mutation_p.R213L|TP53_uc002gih.2_Missense_Mutation_p.R213L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81L|TP53_uc010cng.1_Missense_Mutation_p.R81L|TP53_uc002gii.1_Missense_Mutation_p.R81L|TP53_uc010cnh.1_Missense_Mutation_p.R213L|TP53_uc010cni.1_Missense_Mutation_p.R213L|TP53_uc002gij.2_Missense_Mutation_p.R213L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120L|TP53_uc002gio.2_Missense_Mutation_p.R81L|TP53_uc010vug.1_Missense_Mutation_p.R174L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) CACACTATGTCGAAAAGTGTT 0.532 111 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) 12 18 9.31e-06 1.87e-05 1 0 CNTROB 116840 broad.mit.edu 37 17 7851510 7851510 + Nonsense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:7851510C>T uc002gjq.2 + 17 3164 c.2245C>T c.(2245-2247)CAA>TAA p.Q749* CNTROB_uc002gjp.2_Nonsense_Mutation_p.Q749*|CNTROB_uc002gjr.2_Nonsense_Mutation_p.Q651* NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 749 Pro-rich.|Required for centrosome localization. centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) GGAAGCCCCTCAAGTGCCACG 0.537 NA 17 108 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10318851 10318851 + Nonsense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:10318851G>A uc002gmm.2 - 7 681 c.586C>T c.(586-588)CAA>TAA p.Q196* uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 196 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GCAAAGTATTGGATGACACGC 0.458 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 39 55 0 0 0 0 PIGL 9487 broad.mit.edu 37 17 16203244 16203244 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:16203244C>T uc002gpv.2 + 3 410 c.378C>T c.(376-378)CAC>CAT p.H126H PIGL_uc010vwd.1_Silent_p.H126H NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, 126 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) ACACAGAGCACGTGGCCAGAG 0.507 NA 20 106 0 0 0 0 FLII 2314 broad.mit.edu 37 17 18155815 18155815 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:18155815C>T uc002gsr.1 - 10 1120 c.1069G>A c.(1069-1071)GAA>AAA p.E357K FLII_uc002gsq.1_Missense_Mutation_p.E229K|FLII_uc010cpy.1_Missense_Mutation_p.E346K|FLII_uc010vxn.1_Missense_Mutation_p.E326K|FLII_uc010vxo.1_Missense_Mutation_p.E303K|FLII_uc002gss.1_Missense_Mutation_p.E357K NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 357 LRR 15.|Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) TGGATGGCTTCTGGGAGGGTC 0.587 NA 10 72 0 0 0 0 ZNF286B 729288 broad.mit.edu 37 17 18584121 18584121 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:18584121G>A uc010vyd.1 - 3 310 c.59C>T c.(58-60)CCC>CTC p.P20L NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN zinc finger protein 286B 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGGAAATGGGGAGAATCCTG 0.473 NA 19 148 0 0 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319578 21319578 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:21319578G>C uc002gyv.1 + 3 1629 c.924G>C c.(922-924)ATG>ATC p.M308I NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 308 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) CCACAGCCATGACCACCCAGG 0.607 NA Prostate(3;0.18) 5 101 0 0 0 0 KIAA0100 9703 broad.mit.edu 37 17 26942796 26942796 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:26942796G>A uc002hbu.2 - 38 6510 c.6411C>T c.(6409-6411)GAC>GAT p.D2137D SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_Intron|KIAA0100_uc002hbt.2_Silent_p.D466D NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2137 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GGTCACCCCAGTCCACACTGT 0.537 NA 19 37 0 0 0 0 RHBDL3 162494 broad.mit.edu 37 17 30615953 30615953 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:30615953G>A uc002hhe.1 + 4 451 c.437G>A c.(436-438)CGG>CAG p.R146Q RHBDL3_uc010csw.1_Missense_Mutation_p.R138Q|RHBDL3_uc010csx.1_Missense_Mutation_p.R146Q|RHBDL3_uc010csy.1_Missense_Mutation_p.R48Q|RHBDL3_uc002hhf.1_Missense_Mutation_p.R48Q NM_138328 NP_612201 P58872 RHBL3_HUMAN rhomboid protease 3 146 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) ACCCTGCCCCGGGAAATTGAC 0.617 NA 13 68 0 0 0 0 CDC6 990 broad.mit.edu 37 17 38447873 38447873 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:38447873G>A uc002huj.1 + 4 823 c.613G>A c.(613-615)GGA>AGA p.G205R NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 205 ATP (Potential). cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 TGGTGCTCCTGGAACTGGAAA 0.458 NA 23 122 0 0 0 0 HOXB6 3216 broad.mit.edu 37 17 46673848 46673848 + Nonsense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:46673848C>T uc002ins.1 - 4 927 c.602G>A c.(601-603)TGG>TAG p.W201* HOXB5_uc002inr.2_5'Flank|HOXB6_uc010dbh.1_Nonsense_Mutation_p.W201*|HOXB6_uc002int.1_3'UTR NM_018952 NP_061825 P17509 HXB6_HUMAN homeobox B6 201 Homeobox. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTCCTTTTTCCACTTCATGCG 0.597 NA 45 236 0 0 0 0 MPO 4353 broad.mit.edu 37 17 56348175 56348175 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:56348175G>C uc002ivu.1 - 12 2257 c.2080C>G c.(2080-2082)CTG>GTG p.L694V NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 694 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ATCTGGGCCAGGGCCTGTCGC 0.557 NA 4 80 0 0 0 0 TEX14 56155 broad.mit.edu 37 17 56676479 56676479 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:56676479C>T uc010dcz.1 - 14 2363 c.2245G>A c.(2245-2247)GAG>AAG p.E749K TEX14_uc002iwr.1_Missense_Mutation_p.E743K|TEX14_uc002iws.1_Missense_Mutation_p.E743K|TEX14_uc010dda.1_Missense_Mutation_p.E523K NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 749 Potential. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCATCATTCTCGTGCATTATT 0.428 NA 47 152 0 0 0 0 TBX2 6909 broad.mit.edu 37 17 59479058 59479058 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:59479058C>T uc010wox.1 + 2 690 c.409C>T c.(409-411)CCC>TCC p.P137S TBX2_uc002ize.2_Missense_Mutation_p.P127S|TBX2_uc002izg.2_Intron NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 137 T-box. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 GATGTTCCCCCCCTTCAAGGT 0.562 NA 5 42 0 0 0 0 FADS6 283985 broad.mit.edu 37 17 72877306 72877306 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:72877306C>A uc002jmd.1 - 4 630 c.618G>T c.(616-618)TGG>TGT p.W206C FADS6_uc010wrn.1_Intron NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 212 Helical; (Potential). fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) TCAGGAGCAGCCAGTAGTGAG 0.607 NA 14 14 4.37e-10 9.86e-10 1 0 LGALS3BP 3959 broad.mit.edu 37 17 76967754 76967754 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:76967754C>T uc002jwh.2 - 6 1841 c.1662G>A c.(1660-1662)AAG>AAA p.K554K LGALS3BP_uc002jwi.2_Silent_p.K360K|LGALS3BP_uc010dhr.2_Silent_p.K360K NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein 554 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) AGGAGGTGCTCTTCGAGCTGT 0.622 NA OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 136 0 0 0 0 METRNL 284207 broad.mit.edu 37 17 81050915 81050915 + Missense_Mutation SNP C C T rs146370282 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr17:81050915C>T uc002kgh.2 + 3 685 c.560C>T c.(559-561)CCG>CTG p.P187L METRNL_uc002kgi.2_Missense_Mutation_p.P105L NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN meteorin, glial cell differentiation 187 extracellular region 0 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) TCTCCAGCGCCGTGCCGTCCC 0.617 NA 5 17 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14537933 14537933 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr18:14537933A>T uc010dln.2 - 3 1131 c.677T>A c.(676-678)CTG>CAG p.L226Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 226 ANK 3. skin(3) 3 GCCATGTTCCAGCAACATTAA 0.383 NA 10 95 0 0 0 0 ALPK2 115701 broad.mit.edu 37 18 56247140 56247140 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr18:56247140C>T uc002lhj.3 - 4 1082 c.868G>A c.(868-870)GTG>ATG p.V290M NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 290 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TTGTTGGCCACGGCACTGTCA 0.488 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 59 0 0 0 0 CBLN2 147381 broad.mit.edu 37 18 70209167 70209167 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr18:70209167C>A uc002lku.2 - 2 464 c.229G>T c.(229-231)GCC>TCC p.A77S CBLN2_uc002lkv.2_Missense_Mutation_p.A77S NM_182511 NP_872317 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 77 integral to membrane 0 Esophageal squamous(42;0.131) GAGGTGACGGCGCCGTCCGCC 0.711 NA 8 15 0.000157383 0.000298551 1 0 ARRDC5 645432 broad.mit.edu 37 19 4902866 4902866 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:4902866T>C uc002mbm.2 - 1 14 c.14A>G c.(13-15)GAG>GGG p.E5G NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 5 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) GAGACATTCCTCTCTGTCCCC 0.542 NA 21 33 0 0 0 0 PRR22 163154 broad.mit.edu 37 19 5783814 5783814 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:5783814C>A uc002mdb.1 - 1 797 c.438G>T c.(436-438)CCG>CCT p.P146P PRR22_uc010xiv.1_Silent_p.P148P NM_153359 NP_699190 Q8IZ63 PRR22_HUMAN proline rich 22 isoform 2 146 Pro-rich. 0 GGCCCTCAGGCGGGAAGTAGG 0.716 NA 6 4 0.00116845 0.00211096 1 0 MUC16 94025 broad.mit.edu 37 19 9012852 9012852 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:9012852G>T uc002mkp.2 - 34 38796 c.38592C>A c.(38590-38592)ACC>ACA p.T12864T MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12866 SEA 6.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTGCAGGTTGGTGATGGTGA 0.547 NA 7 139 0.000274275 0.000509484 1 0 MUC16 94025 broad.mit.edu 37 19 9049185 9049185 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:9049185C>T uc002mkp.2 - 5 32650 c.32446G>A c.(32446-32448)GGT>AGT p.G10816S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10818 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCTGGTTCACCAGGGGAGTTT 0.478 NA 30 82 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9085769 9085769 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:9085769G>A uc002mkp.2 - 1 6250 c.6046C>T c.(6046-6048)CAT>TAT p.H2016Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2016 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAATTCTCATGGGTAGGGGAA 0.463 NA 17 52 0 0 0 0 OR7D2 162998 broad.mit.edu 37 19 9297244 9297244 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:9297244G>A uc002mkz.1 + 1 975 c.787G>A c.(787-789)GCG>ACG p.A263T NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 263 Extracellular (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 CTTCACTTCTGCGGTGACTCA 0.512 NA 23 58 0 0 0 0 CPAMD8 27151 broad.mit.edu 37 19 17122307 17122307 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:17122307G>A uc002nfb.2 - 5 626 c.594C>T c.(592-594)ACC>ACT p.T198T NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 151 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TTGGAGAGACGGTGAAGATGC 0.587 NA 30 70 0 0 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727499 20727499 + Missense_Mutation SNP T T G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:20727499T>G uc002npa.2 - 4 1690 c.1510A>C c.(1510-1512)ACT>CCT p.T504P NM_001159293 NP_001152765 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 504 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TTCTCTCCAGTATGAATTCTC 0.393 NA 4 16 0 0 0 0 ZNF257 113835 broad.mit.edu 37 19 22272134 22272134 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:22272134T>A uc010ecx.2 + 4 1751 c.1582T>A c.(1582-1584)TCA>ACA p.S528T ZNF257_uc010ecy.2_Missense_Mutation_p.S496T NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 528 C2H2-type 13. 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) TAATCGTTTCTCATACCTTAC 0.388 NA 6 24 0 0 0 0 ZNF254 9534 broad.mit.edu 37 19 24310288 24310288 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:24310288G>T uc002nru.2 + 4 1620 c.1486G>T c.(1486-1488)GGC>TGC p.G496C ZNF254_uc010xrk.1_Missense_Mutation_p.G411C NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 496 C2H2-type 11. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TGAAGAATGTGGCAAATCTTT 0.398 NA 10 40 0.000442599 0.000813707 1 0 DLL3 10683 broad.mit.edu 37 19 39994757 39994757 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:39994757G>T uc002olx.2 + 5 757 c.699G>T c.(697-699)CAG>CAT p.Q233H DLL3_uc010egq.2_Missense_Mutation_p.Q233H|DLL3_uc002olw.2_Missense_Mutation_p.Q233H NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 233 EGF-like 1.|Extracellular (Potential). Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCTGTGAACAGCCCGGTGAAT 0.647 NA 9 47 3.86e-05 7.46e-05 1 0 AXL 558 broad.mit.edu 37 19 41754717 41754717 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:41754717C>T uc010ehj.2 + 14 1893 c.1703C>T c.(1702-1704)ACG>ATG p.T568M CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.T559M NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 568 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GCTGTGAAGACGATGAAGAGT 0.547 NA 5 27 0 0 0 0 PSG2 5670 broad.mit.edu 37 19 43579547 43579547 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:43579547C>A uc002ovr.2 - 3 761 c.668G>T c.(667-669)GGG>GTG p.G223V PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.G223V|PSG2_uc010eiq.1_Missense_Mutation_p.G223V|PSG2_uc002ovs.3_Missense_Mutation_p.G223V|PSG2_uc002ovt.3_Missense_Mutation_p.G223V NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 223 Ig-like C2-type 1. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GCTGGCACTCCCTGAGTTCCG 0.507 NA 69 306 9.96e-45 2.49e-44 1 0 FKRP 79147 broad.mit.edu 37 19 47259844 47259844 + Silent SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:47259844G>C uc002pfn.2 + 4 1434 c.1137G>C c.(1135-1137)CGG>CGC p.R379R FKRP_uc002pfp.2_Silent_p.R379R NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN fukutin-related protein 379 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity pancreas(1) 1 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) AGCAGCTGCGGGGGGCAGAGG 0.657 NA 4 17 0 0 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462047 50462047 + Missense_Mutation SNP A A C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:50462047A>C uc010ybh.1 - 7 1307 c.1216T>G c.(1216-1218)TGG>GGG p.W406G SIGLEC11_uc010ybi.1_Missense_Mutation_p.W406G NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 406 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) GTCTGTCCCCACCGGGTCCAG 0.682 NA 3 70 0 0 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034090 52034090 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:52034090G>A uc002pwy.2 - 3 713 c.551C>T c.(550-552)TCA>TTA p.S184L SIGLEC6_uc002pwz.2_Missense_Mutation_p.S184L|SIGLEC6_uc002pxa.2_Missense_Mutation_p.S184L|SIGLEC6_uc010ydb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010ydc.1_Missense_Mutation_p.S173L|SIGLEC6_uc010eoz.1_Missense_Mutation_p.S162L|SIGLEC6_uc010epb.1_Missense_Mutation_p.S137L|SIGLEC6_uc010epa.1_Missense_Mutation_p.S173L NM_001245 NP_001236 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 isoform 1 184 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus ovary(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) GGGGGCAGCTGACATCCAGGA 0.657 NA 15 66 0 0 0 0 ZNF615 284370 broad.mit.edu 37 19 52505068 52505068 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:52505068G>T uc002pye.1 - 5 528 c.236C>A c.(235-237)TCT>TAT p.S79Y ZNF615_uc002pyf.1_Missense_Mutation_p.S79Y|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Missense_Mutation_p.S79Y|ZNF615_uc010epi.1_Missense_Mutation_p.S75Y|ZNF615_uc010ydg.1_Missense_Mutation_p.S84Y NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCACTCACCAGAACAGATTCG 0.507 NA 8 33 5.18e-06 1.05e-05 1 0 NLRP13 126204 broad.mit.edu 37 19 56422098 56422098 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:56422098T>A uc010ygg.1 - 6 2138 c.2113A>T c.(2113-2115)ACA>TCA p.T705S NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 705 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AACTTGCTTGTCCTTCATGAG 0.438 NA 18 75 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57326339 57326339 + Nonsense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr19:57326339G>T uc002qnu.2 - 7 3822 c.3471C>A c.(3469-3471)TAC>TAA p.Y1157* ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.Y1128*|PEG3_uc002qnv.2_Nonsense_Mutation_p.Y1157*|PEG3_uc002qnw.2_Nonsense_Mutation_p.Y1033*|PEG3_uc002qnx.2_Nonsense_Mutation_p.Y1031*|PEG3_uc010etr.2_Nonsense_Mutation_p.Y1157* NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1157 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCTCTCCAGTGTAATCTCTCT 0.448 NA 27 111 1.74e-06 3.62e-06 1 0 SDC1 6382 broad.mit.edu 37 2 20402571 20402571 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:20402571C>A uc002rdo.1 - 5 1188 c.889G>T c.(889-891)GGG>TGG p.G297W SDC1_uc002rdp.1_Missense_Mutation_p.G297W|SDC1_uc010exv.2_Intron NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 297 Cytoplasmic (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) TGGTAGGCCCCGCCGTTGGCT 0.602 NA 7 253 0.00198382 0.00355328 1 0 DNMT3A 1788 broad.mit.edu 37 2 25469921 25469921 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:25469921T>A uc002rgc.2 - 9 1378 c.1121A>T c.(1120-1122)CAG>CTG p.Q374L DNMT3A_uc002rgd.2_Missense_Mutation_p.Q374L|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q185L NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 374 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACACTCACCTGCAGGACCTC 0.602 NA Mis|F|N|S AML 6 31 0 0 0 0 GPR75 10936 broad.mit.edu 37 2 54081598 54081598 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:54081598G>A uc002rxo.3 - 2 567 c.296C>T c.(295-297)CCC>CTC p.P99L ASB3_uc002rxi.3_Intron NM_006794 NP_006785 O95800 GPR75_HUMAN G protein-coupled receptor 75 99 Helical; Name=2; (Potential).|Phe-rich. integral to plasma membrane G-protein coupled receptor activity ovary(1)|skin(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GGTGAACATGGGGGCTGTCAC 0.458 NA 7 95 0 0 0 0 PLEK 5341 broad.mit.edu 37 2 68613641 68613641 + Silent SNP C C T rs151222226 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:68613641C>T uc002sen.3 + 5 642 c.480C>T c.(478-480)TGC>TGT p.C160C PLEK_uc010fde.2_Silent_p.C160C NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 160 DEP. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) TAGGTAACTGCGTCATTGATT 0.532 NA 11 36 0 0 0 0 C2orf78 388960 broad.mit.edu 37 2 74043891 74043891 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:74043891C>A uc002sjr.1 + 3 2662 c.2541C>A c.(2539-2541)ATC>ATA p.I847I NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 847 ovary(2) 2 AATTTCTAATCCAAGACTTCA 0.527 NA 20 79 0.000132079 0.000252077 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746278 77746278 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:77746278G>T uc002snr.2 - 3 1132 c.717C>A c.(715-717)AAC>AAA p.N239K LRRTM4_uc002snq.2_Missense_Mutation_p.N239K|LRRTM4_uc002sns.2_Missense_Mutation_p.N239K|LRRTM4_uc002snt.2_Missense_Mutation_p.N240K NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 239 LRR 8.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) AGCGAATCCTGTTCCATTGTA 0.448 NA 3 20 0.004672 0.00828519 1 0 CTNNA2 1496 broad.mit.edu 37 2 80101253 80101253 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:80101253C>G uc010ysh.1 + 5 642 c.637C>G c.(637-639)CTG>GTG p.L213V CTNNA2_uc010yse.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysf.1_Missense_Mutation_p.L213V|CTNNA2_uc010ysg.1_Missense_Mutation_p.L213V NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 213 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CCGAGGGGCTCTGAAGAAGAA 0.517 NA 13 35 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529767 80529767 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:80529767G>T uc002sok.1 - 2 1448 c.1178C>A c.(1177-1179)ACG>AAG p.T393K CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 393 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GTCCGCGAGCGTGGTGGCCGA 0.716 NA HNSCC(69;0.2) 11 32 1.58e-08 3.46e-08 1 0 SLC9A2 6549 broad.mit.edu 37 2 103324786 103324786 + Silent SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:103324786G>C uc002tca.2 + 12 2419 c.2277G>C c.(2275-2277)ACG>ACC p.T759T NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 759 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GCACCCAGACGTCAGGCTTAC 0.552 NA 33 75 0 0 0 0 CCDC138 165055 broad.mit.edu 37 2 109405345 109405345 + Silent SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:109405345A>T uc002ten.1 + 3 249 c.189A>T c.(187-189)TCA>TCT p.S63S CCDC138_uc002teo.1_Silent_p.S63S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 63 0 AAGTTGGTTCATCGTTAAAAT 0.358 NA 18 39 0 0 0 0 BUB1 699 broad.mit.edu 37 2 111417591 111417591 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:111417591C>T uc002tgc.2 - 11 1352 c.1240G>A c.(1240-1242)GAA>AAA p.E414K BUB1_uc010yxh.1_Missense_Mutation_p.E394K|BUB1_uc010fkb.2_Missense_Mutation_p.E414K NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 414 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GGCTTGAATTCATGAGTACTC 0.308 NA 5 21 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116497460 116497460 + Silent SNP G G T rs146251151 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:116497460G>T uc002tla.1 + 9 1300 c.843G>T c.(841-843)CCG>CCT p.P281P DPP10_uc002tlb.1_Silent_p.P231P|DPP10_uc002tlc.1_Silent_p.P277P|DPP10_uc002tle.2_Silent_p.P285P|DPP10_uc002tlf.1_Silent_p.P274P NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 281 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AGCAGTATCCGTATCCTAAGG 0.423 NA 12 47 7.04e-09 1.55e-08 1 0 INHBB 3625 broad.mit.edu 37 2 121107420 121107420 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:121107420C>A uc002tmn.2 + 2 1240 c.1194C>A c.(1192-1194)AAC>AAA p.N398K NM_002193 NP_002184 P09529 INHBB_HUMAN inhibin beta B subunit preproprotein 398 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity pancreas(2)|skin(1) 3 Prostate(154;0.122) ACGTGCCCAACATGATTGTGG 0.632 NA 3 19 2.56e-06 5.25e-06 1 0 LRP1B 53353 broad.mit.edu 37 2 141299381 141299381 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:141299381C>T uc002tvj.1 - 44 8326 c.7354G>A c.(7354-7356)GGA>AGA p.G2452R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2452 Extracellular (Potential).|LDL-receptor class B 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTATGATTCCCATTGGCTGA 0.378 NA TSP Lung(27;0.18) 15 57 0 0 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555719 155555719 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:155555719C>A uc002tyv.1 + 1 627 c.432C>A c.(430-432)ATC>ATA p.I144I KCNJ3_uc010zce.1_Silent_p.I144I NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 144 Selectivity filter (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AGGCCACCATCGGCTATGGCT 0.557 NA 8 35 1.13e-05 2.25e-05 1 0 ACVR1C 130399 broad.mit.edu 37 2 158406691 158406691 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:158406691A>G uc002tzk.3 - 4 1001 c.758T>C c.(757-759)ATT>ACT p.I253T ACVR1C_uc002tzl.3_Missense_Mutation_p.I173T|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Missense_Mutation_p.I203T NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 253 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GTCAGCAGCAATGAAACCAAG 0.388 NA 18 34 0 0 0 0 SLC38A11 151258 broad.mit.edu 37 2 165768172 165768172 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:165768172G>T uc002ucv.1 - 11 1306 c.769C>A c.(769-771)CCT>ACT p.P257T SLC38A11_uc002ucu.1_Missense_Mutation_p.P235T|SLC38A11_uc002ucw.1_Missense_Mutation_p.P257T NM_173512 NP_775783 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 257 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1) 1 CATTCCATAGGGTATGTCAAA 0.378 NA 4 20 0.00024832 0.000464718 1 0 TTN 7273 broad.mit.edu 37 2 179613245 179613245 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:179613245G>T uc002unb.2 - 46 14106 c.13882C>A c.(13882-13884)CCA>ACA p.P4628T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TCCAGAGCTGGATCTCCTATA 0.378 NA 21 71 8.05e-18 1.93e-17 1 0 TTN 7273 broad.mit.edu 37 2 179633515 179633515 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:179633515C>T uc010zfg.1 - 38 9272 c.9048G>A c.(9046-9048)ATG>ATA p.M3016I TTN_uc010zfh.1_Missense_Mutation_p.M2970I|TTN_uc010zfi.1_Missense_Mutation_p.M2970I|TTN_uc010zfj.1_Missense_Mutation_p.M2970I|TTN_uc002unb.2_Missense_Mutation_p.M3016I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3016 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) TTTTGGTTCTCATCTGGCACT 0.418 NA 15 35 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189907465 189907465 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:189907465G>A uc002uqk.2 - 49 3781 c.3506C>T c.(3505-3507)CCT>CTT p.P1169L COL5A2_uc010frx.2_Missense_Mutation_p.P745L NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1169 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) AAATGGTCCAGGGATTCCAGC 0.373 NA 4 10 0 0 0 0 STAT4 6775 broad.mit.edu 37 2 191940969 191940969 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:191940969G>T uc002usm.1 - 4 610 c.356C>A c.(355-357)GCC>GAC p.A119D STAT4_uc002usn.1_Missense_Mutation_p.A119D|STAT4_uc002uso.2_Missense_Mutation_p.A119D|STAT4_uc002usp.3_Missense_Mutation_p.A119D NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 119 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) AGGCATGTTGGCTGCAGCCAA 0.284 NA 11 59 1.09e-07 2.32e-07 1 0 STK17B 9262 broad.mit.edu 37 2 197021180 197021180 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:197021180G>C uc002utk.2 - 3 642 c.318C>G c.(316-318)ATC>ATG p.I106M STK17B_uc010fsh.2_Missense_Mutation_p.I106M NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 106 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) ATATCAAAATGATTTCACTTG 0.313 NA 6 11 0 0 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279531 217279531 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:217279531G>A uc002vgc.3 + 3 434 c.104G>A c.(103-105)AGG>AAG p.R35K SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.R35K|SMARCAL1_uc010fvg.2_Missense_Mutation_p.R35K NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 35 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGCATCAGAGGACTAGCTCG 0.522 NA Schimke_Immuno-Osseous_Dysplasia 30 94 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227924220 227924220 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:227924220G>T uc010zlt.1 - 28 2938 c.2284C>A c.(2284-2286)CCT>ACT p.P762T NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 762 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCAAATGCAGGGTCTCCCGGG 0.612 NA 24 70 2.89e-11 6.59e-11 1 0 PLCB1 23236 broad.mit.edu 37 20 8637904 8637904 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr20:8637904C>A uc002wnb.2 + 8 671 c.668C>A c.(667-669)CCT>CAT p.P223H PLCB1_uc010zrb.1_Missense_Mutation_p.P122H|PLCB1_uc002wna.2_Missense_Mutation_p.P223H|PLCB1_uc002wnc.1_Missense_Mutation_p.P122H NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 223 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGCCCTCGACCTGAAATTGAT 0.393 NA 10 71 4.69e-08 1.01e-07 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812833 31812833 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr21:31812833C>A uc002yod.2 + 1 188 c.188C>A c.(187-189)ACA>AAA p.T63K NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 63 intermediate filament 0 AGCTGCCAGACATCCTGCACT 0.512 NA 15 59 7.93e-07 1.66e-06 1 0 OR11H1 81061 broad.mit.edu 37 22 16449678 16449678 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr22:16449678A>T uc011agd.1 - 1 127 c.127T>A c.(127-129)TTC>ATC p.F43I NM_001005239 NP_001005239 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, 43 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) AAGAGTGAGAAGAGGAAGATC 0.423 NA 8 146 0 0 0 0 PPM1F 9647 broad.mit.edu 37 22 22285593 22285593 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr22:22285593C>A uc002zvp.1 - 6 932 c.818G>T c.(817-819)GGG>GTG p.G273V PPM1F_uc011aik.1_Missense_Mutation_p.G169V|PPM1F_uc002zvq.2_Missense_Mutation_p.G273V NM_014634 NP_055449 P49593 PPM1F_HUMAN protein phosphatase 1F 273 apoptosis|protein dephosphorylation protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(2)|large_intestine(1)|breast(1)|kidney(1) 5 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.155) CTGGGAATCCCCGAGCCAGGC 0.542 NA 21 52 1.98e-07 4.23e-07 1 0 CNTN6 27255 broad.mit.edu 37 3 1269678 1269678 + Splice_Site SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:1269678G>T uc003boz.2 + 4 625 c.358_splice c.e4+1 p.Y120_splice CNTN6_uc010hbo.2_Splice_Site_p.Y115_splice|CNTN6_uc011asj.1_Splice_Site_p.Y48_splice|CNTN6_uc003bpa.2_Splice_Site_p.Y120_splice NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CAATTTGCATGTGAGTTTGGG 0.383 NA 28 95 7.63e-27 1.88e-26 1 0 LRRN1 57633 broad.mit.edu 37 3 3888298 3888298 + Missense_Mutation SNP G G A rs75344244 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:3888298G>A uc003bpt.3 + 2 2734 c.1973G>A c.(1972-1974)AGA>AAA p.R658K SUMF1_uc003bps.1_Intron NM_020873 NP_065924 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 precursor 658 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AGATTTAAGAGAAAAAACTAC 0.423 NA 19 60 0 0 0 0 ARPC4 10093 broad.mit.edu 37 3 9841894 9841894 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:9841894C>T uc003bsz.1 + 3 727 c.148C>T c.(148-150)CCT>TCT p.P50S ARPC4_uc003bta.1_5'UTR|ARPC4_uc003btb.1_5'UTR|ARPC4_uc003btc.1_5'UTR|TTLL3_uc003btd.3_5'UTR NM_005718 NP_005709 P59998 ARPC4_HUMAN actin related protein 2/3 complex subunit 4 50 actin filament polymerization|actin nucleation Arp2/3 protein complex|cell projection|cytoplasm actin binding 0 Medulloblastoma(99;0.227) CCTGTTACAACCTGTGACCAT 0.478 NA 11 44 0 0 0 0 STAC 6769 broad.mit.edu 37 3 36570191 36570191 + Silent SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:36570191A>T uc003cgh.1 + 9 963 c.924A>T c.(922-924)CCA>CCT p.P308P STAC_uc011aya.1_Silent_p.P247P NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 308 SH3. intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 ATTTTAGGCCAGGAGACATAA 0.294 NA 5 14 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39229057 39229057 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:39229057G>T uc003cjk.1 - 2 2101 c.1880C>A c.(1879-1881)ACC>AAC p.T627N XIRP1_uc003cji.2_Missense_Mutation_p.T627N|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 627 Interaction with CTNNB1 (By similarity).|Xin 14. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GAACATCCAGGTGCAGGACTG 0.597 NA 24 49 2.89e-11 6.59e-11 1 0 ULK4 54986 broad.mit.edu 37 3 41497085 41497085 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:41497085G>A uc003ckv.3 - 34 3596 c.3395C>T c.(3394-3396)GCC>GTC p.A1132V NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 1132 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGACTTCTGGGCCTGGAACAG 0.542 NA 20 30 0 0 0 0 ZNF502 91392 broad.mit.edu 37 3 44762622 44762622 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:44762622G>A uc011baa.1 + 4 568 c.313G>A c.(313-315)GAG>AAG p.E105K ZNF502_uc003cns.2_Missense_Mutation_p.E105K|ZNF502_uc011bab.1_Missense_Mutation_p.E105K|ZNF502_uc003cnt.2_Missense_Mutation_p.E105K NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 105 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) ATATAATTTTGAGAAAAGCTT 0.398 NA 9 41 0 0 0 0 RTP3 83597 broad.mit.edu 37 3 46542079 46542079 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:46542079G>A uc003cps.1 + 2 457 c.389G>A c.(388-390)AGA>AAA p.R130K NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 130 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TATAGAGGAAGATTTCAGTTG 0.463 NA 13 93 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53796040 53796040 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:53796040G>T uc003dgv.3 + 30 3965 c.3802G>T c.(3802-3804)GCC>TCC p.A1268S CACNA1D_uc003dgu.3_Missense_Mutation_p.A1288S|CACNA1D_uc003dgy.3_Missense_Mutation_p.A1268S|CACNA1D_uc003dgw.3_Intron|CACNA1D_uc003dgx.1_Missense_Mutation_p.A416S NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1268 IV.|Helical; Name=S3 of repeat IV; (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTTTAGTGACGCCTGGAACAC 0.562 NA 20 54 3.62e-10 8.19e-10 1 0 CADM2 253559 broad.mit.edu 37 3 85932571 85932571 + Silent SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:85932571C>G uc003dqj.2 + 3 968 c.342C>G c.(340-342)TCC>TCG p.S114S CADM2_uc003dqk.2_Silent_p.S123S|CADM2_uc003dql.2_Silent_p.S116S NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 114 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TCAAAACTTCCAAGGCATATC 0.398 NA 3 17 0 0 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806802 97806802 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:97806802G>T uc011bgs.1 + 1 786 c.786G>T c.(784-786)GTG>GTT p.V262V NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCATGTATGTGCGTCCTGCAT 0.428 NA 15 57 2.23e-06 4.61e-06 1 0 GPR128 84873 broad.mit.edu 37 3 100365491 100365491 + Missense_Mutation SNP G G T rs143826267 byFrequency TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:100365491G>T uc003duc.2 + 10 1457 c.1189G>T c.(1189-1191)GGC>TGC p.G397C GPR128_uc011bhc.1_Missense_Mutation_p.G98C NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 397 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 GGACACATATGGCTGTCAAAA 0.393 NA 6 40 1.07e-07 2.3e-07 1 0 DZIP3 9666 broad.mit.edu 37 3 108373010 108373010 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:108373010G>T uc003dxd.2 + 19 2474 c.2052G>T c.(2050-2052)AAG>AAT p.K684N DZIP3_uc003dxf.1_Missense_Mutation_p.K684N|DZIP3_uc011bhm.1_Missense_Mutation_p.K135N|DZIP3_uc003dxg.1_Missense_Mutation_p.K407N NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 684 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TGGTAGAAAAGGAAGAGCAGT 0.363 NA 21 25 2.71e-06 5.55e-06 1 0 CCDC52 152185 broad.mit.edu 37 3 113172677 113172677 + Nonsense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:113172677G>C uc003eag.3 - 14 2069 c.1778C>G c.(1777-1779)TCA>TGA p.S593* CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Nonsense_Mutation_p.S489* NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 593 cell division|mitosis centriole|spindle protein binding 0 CTCTTCACTTGAATTCTGAAT 0.428 NA 41 32 0 0 0 0 PTPLB 201562 broad.mit.edu 37 3 123247241 123247241 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:123247241C>A uc003egj.2 - 4 423 c.373G>T c.(373-375)GTC>TTC p.V125F NM_198402 NP_940684 Q6Y1H2 HACD2_HUMAN protein tyrosine phosphatase-like (proline 125 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity|protein binding kidney(1) 1 GBM - Glioblastoma multiforme(114;0.1) ACCTCTTTGACGCTATGTGTT 0.358 NA 18 37 1.68e-08 3.66e-08 1 0 PLXNA1 5361 broad.mit.edu 37 3 126707921 126707921 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:126707921G>A uc003ejg.2 + 1 420 c.416G>A c.(415-417)AGC>AAC p.S139N NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 162 Sema.|Extracellular (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) TACCTGTCCAGCGTGCAGGAG 0.657 NA 4 32 0 0 0 0 PIK3R4 30849 broad.mit.edu 37 3 130403120 130403120 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:130403120G>A uc003enj.2 - 16 4162 c.3581C>T c.(3580-3582)CCT>CTT p.P1194L NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1194 WD 5. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 CTGATACAGAGGGTGCATTGA 0.483 NA 8 57 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134670706 134670706 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:134670706T>C uc003eqt.2 + 3 837 c.617T>C c.(616-618)TTT>TCT p.F206S EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 206 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TTTGCAGTGTTTCCAGAGACT 0.483 NA 40 244 0 0 0 0 TMEM22 80723 broad.mit.edu 37 3 136573436 136573436 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:136573436A>G uc003erf.3 + 2 348 c.134A>G c.(133-135)TAT>TGT p.Y45C TMEM22_uc003erg.3_Missense_Mutation_p.Y45C|TMEM22_uc010hub.2_Missense_Mutation_p.Y45C NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 45 Golgi apparatus|integral to membrane ovary(1) 1 AATGAAGGCTATGGAAATTTT 0.398 NA 44 275 0 0 0 0 DZIP1L 199221 broad.mit.edu 37 3 137796423 137796423 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:137796423C>T uc003erq.2 - 11 1703 c.1340G>A c.(1339-1341)CGT>CAT p.R447H DZIP1L_uc003err.1_Missense_Mutation_p.R447H NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 447 intracellular zinc ion binding p.R447P(1) ovary(1)|pancreas(1) 2 AGTGGGGTTACGCCTCAGAGC 0.547 NA 28 162 0 0 0 0 C3orf72 401089 broad.mit.edu 37 3 138669186 138669186 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:138669186C>A uc003esx.1 + 3 431 c.300C>A c.(298-300)CGC>CGA p.R100R C3orf72_uc011bmr.1_3'UTR NM_001040061 NP_001035150 Q6ZUU3 CC072_HUMAN chromosome 3 open reading frame 72 100 0 GGAAGCGTCGCGGCTGCTCTG 0.687 NA 22 42 2.89e-11 6.59e-11 1 0 C3orf58 205428 broad.mit.edu 37 3 143691744 143691744 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:143691744C>T uc003evo.2 + 1 1105 c.570C>T c.(568-570)GGC>GGT p.G190G C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 190 COPI vesicle coat|extracellular region ovary(1) 1 AGGACTCGGGCAGCTTCCTGC 0.697 NA 7 13 0 0 0 0 ZIC1 7545 broad.mit.edu 37 3 147128596 147128596 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:147128596G>A uc003ewe.2 + 1 1416 c.697G>A c.(697-699)GAG>AAG p.E233K NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 233 C2H2-type 1; atypical. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GATCGAGCCCGAGCAGCTGGC 0.592 NA 9 48 0 0 0 0 SI 6476 broad.mit.edu 37 3 164732915 164732915 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:164732915G>T uc003fei.2 - 33 4057 c.3995C>A c.(3994-3996)GCA>GAA p.A1332E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1332 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAGTACCTTTGCCCAACAAAT 0.323 NA HNSCC(35;0.089) 5 51 0.000602214 0.00109749 1 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 17 44 0 0 0 0 VPS8 23355 broad.mit.edu 37 3 184711810 184711810 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:184711810G>A uc003fpb.1 + 42 3790 c.3619G>A c.(3619-3621)GGA>AGA p.G1207R VPS8_uc010hyd.1_Missense_Mutation_p.G1117R|VPS8_uc010hye.1_Missense_Mutation_p.G636R NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 1209 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGAAATCCAGGGACTTATCTT 0.294 NA 3 7 0 0 0 0 MASP1 5648 broad.mit.edu 37 3 186974553 186974553 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:186974553T>C uc003frh.1 - 5 975 c.643A>G c.(643-645)ACC>GCC p.T215A MASP1_uc003fri.2_Missense_Mutation_p.T215A|MASP1_uc003frj.2_Missense_Mutation_p.T184A|MASP1_uc003frk.1_Missense_Mutation_p.T215A|MASP1_uc011bse.1_Missense_Mutation_p.T189A NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 215 Interaction with FCN2.|CUB 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) AGCTCGATGGTATACAGGCAT 0.512 NA 10 95 0 0 0 0 FGF12 2257 broad.mit.edu 37 3 192078262 192078262 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr3:192078262G>T uc003fsx.2 - 2 1091 c.265C>A c.(265-267)CCA>ACA p.P89T FGF12_uc003fsy.2_Missense_Mutation_p.P27T NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 89 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) GTACCATCTGGGTGCATCTGC 0.408 NA 22 68 4.27e-12 9.88e-12 1 0 GBA3 57733 broad.mit.edu 37 4 22749401 22749401 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:22749401C>A uc003gqp.3 + 3 860 c.769C>A c.(769-771)CCC>ACC p.P257T GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P258T NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 257 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ATTTGCTAAACCCATATTCAT 0.448 NA 18 68 3.53e-06 7.18e-06 1 0 N4BP2 55728 broad.mit.edu 37 4 40115063 40115063 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:40115063C>A uc003guy.3 + 7 1937 c.1599C>A c.(1597-1599)CAC>CAA p.H533Q N4BP2_uc010ifq.2_Missense_Mutation_p.H453Q|N4BP2_uc010ifr.2_Missense_Mutation_p.H453Q NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 533 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 CTCAGAAACACAAATATAAAG 0.313 NA 25 97 0.000375601 0.00069667 1 0 GUF1 60558 broad.mit.edu 37 4 44680736 44680736 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:44680736G>A uc003gww.3 + 1 304 c.97G>A c.(97-99)GCG>ACG p.A33T GUF1_uc010ifz.1_RNA NM_021927 NP_068746 Q8N442 GUF1_HUMAN GUF1 GTPase homolog 33 translation mitochondrial inner membrane GTP binding|GTPase activity upper_aerodigestive_tract(1) 1 GCCCCGGTCCGCGCCGACCCT 0.692 NA 5 24 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46314582 46314582 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:46314582G>A uc003gxc.3 - 4 1080 c.407C>T c.(406-408)GCT>GTT p.A136V GABRA2_uc010igc.2_Missense_Mutation_p.A136V|GABRA2_uc011bzc.1_Missense_Mutation_p.A81V|GABRA2_uc003gxe.2_Missense_Mutation_p.A136V NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 136 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATATTATGAGCTACTGATTT 0.343 NA 11 69 0 0 0 0 NFXL1 152518 broad.mit.edu 37 4 47857090 47857090 + Nonsense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:47857090T>A uc010igh.2 - 20 2584 c.2407A>T c.(2407-2409)AAA>TAA p.K803* NFXL1_uc003gxo.2_Nonsense_Mutation_p.K128*|NFXL1_uc003gxp.2_Nonsense_Mutation_p.K803*|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Nonsense_Mutation_p.K803* NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 803 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TTTATTCTTTTACAAGGACAT 0.234 NA 15 51 0 0 0 0 USP46 64854 broad.mit.edu 37 4 53492412 53492412 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:53492412G>C uc003gzn.2 - 4 519 c.334C>G c.(334-336)CTC>GTC p.L112V USP46_uc003gzm.3_Missense_Mutation_p.L105V|USP46_uc011bzr.1_Missense_Mutation_p.L89V|USP46_uc011bzs.1_Translation_Start_Site NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 112 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TTATCAAAGAGATCTGGAAAG 0.333 NA 6 26 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73956626 73956626 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:73956626G>A uc003hgp.2 - 29 6836 c.6719C>T c.(6718-6720)CCT>CTT p.P2240L ANKRD17_uc003hgo.2_Missense_Mutation_p.P2127L|ANKRD17_uc003hgq.2_Missense_Mutation_p.P1989L|ANKRD17_uc003hgr.2_Missense_Mutation_p.P2239L NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2240 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGGAGCAATAGGCTTATTTGC 0.458 NA 49 224 0 0 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169444 90169444 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:90169444G>T uc003hsm.1 - 2 2337 c.1818C>A c.(1816-1818)AGC>AGA p.S606R NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 606 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CAGATGGCAGGCTCAGGCTGG 0.582 NA 31 100 1.08e-15 2.57e-15 1 0 GSTCD 79807 broad.mit.edu 37 4 106744222 106744222 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:106744222G>A uc003hxz.3 + 6 1424 c.1352G>A c.(1351-1353)GGT>GAT p.G451D GSTCD_uc003hxx.2_Missense_Mutation_p.G451D|GSTCD_uc003hxy.3_Missense_Mutation_p.G364D|GSTCD_uc011cfb.1_Missense_Mutation_p.G74D NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain 451 cytoplasm rRNA methyltransferase activity breast(1)|central_nervous_system(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TTCTGCAGCGGTGGGGTATTT 0.383 NA 25 75 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114284553 114284553 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:114284553C>A uc003ibe.3 + 40 10916 c.10816C>A c.(10816-10818)CCC>ACC p.P3606T ANK2_uc003ibd.3_Missense_Mutation_p.P1512T|ANK2_uc003ibf.3_Missense_Mutation_p.P1521T|ANK2_uc011cgc.1_Missense_Mutation_p.P697T|ANK2_uc003ibg.3_Missense_Mutation_p.P505T|ANK2_uc003ibh.3_Missense_Mutation_p.P195T|ANK2_uc011cgd.1_Missense_Mutation_p.P908T NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3573 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AATTGAAAATCCCAACTCTCT 0.383 NA 11 42 1.59e-06 3.31e-06 1 0 ANP32C 23520 broad.mit.edu 37 4 165118530 165118530 + Nonsense_Mutation SNP T T A rs138319123 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:165118530T>A uc011cjk.1 - 1 334 c.334A>T c.(334-336)AAG>TAG p.K112* MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 112 LRR 4. 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) TCTAAGCTCTTGAGGTTTTCT 0.418 NA 34 92 0 0 0 0 WDR17 116966 broad.mit.edu 37 4 177098210 177098210 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:177098210C>A uc003iuj.2 + 29 3724 c.3568C>A c.(3568-3570)CAG>AAG p.Q1190K WDR17_uc003iuk.2_Missense_Mutation_p.Q1166K|WDR17_uc003ium.3_Missense_Mutation_p.Q1151K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.Q401K NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1190 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CACGTTCAGTCAGCTATTAAA 0.348 NA 8 29 5.49e-09 1.21e-08 1 0 ENPP6 133121 broad.mit.edu 37 4 185018464 185018464 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr4:185018464G>T uc003iwc.2 - 7 1193 c.1051C>A c.(1051-1053)CGT>AGT p.R351S NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 351 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TGCCATCCACGCTGCCAACCT 0.577 NA 8 33 3.1e-07 6.59e-07 1 0 MARCH6 10299 broad.mit.edu 37 5 10415698 10415698 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:10415698A>G uc003jet.1 + 21 2248 c.2065A>G c.(2065-2067)ATA>GTA p.I689V MARCH6_uc011cmu.1_Missense_Mutation_p.I641V|MARCH6_uc003jeu.1_Missense_Mutation_p.I387V|MARCH6_uc011cmv.1_Missense_Mutation_p.I584V NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 689 Helical; (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 CTGGCTAACCATAAGGGCTGT 0.493 NA 35 95 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13719206 13719206 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:13719206C>T uc003jfd.2 - 72 12326 c.12284G>A c.(12283-12285)GGA>GAA p.G4095E DNAH5_uc003jfc.2_Missense_Mutation_p.G263E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4095 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AAGTGCCCATCCTCCCTGTCA 0.363 NA Kartagener_syndrome 10 33 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24511453 24511453 + Missense_Mutation SNP T T G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:24511453T>G uc003jgr.1 - 6 1317 c.985A>C c.(985-987)ATC>CTC p.I329L CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 329 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACAGTGATGATGCCTTCCTGT 0.413 NA HNSCC(23;0.051) 17 148 0 0 0 0 NPR3 4883 broad.mit.edu 37 5 32774814 32774814 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:32774814G>T uc003jhv.2 + 4 1278 c.1060G>T c.(1060-1062)GTT>TTT p.V354F NPR3_uc010iuo.2_Missense_Mutation_p.V138F|NPR3_uc011cnz.1_Missense_Mutation_p.V138F|NPR3_uc003jhu.2_Missense_Mutation_p.V354F NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 354 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) TTCTTTTCAGGTTAACATGTT 0.443 NA 39 202 1.31e-17 3.14e-17 1 0 EGFLAM 133584 broad.mit.edu 37 5 38427226 38427226 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:38427226G>T uc003jlc.1 + 14 2250 c.1926G>T c.(1924-1926)CGG>CGT p.R642R EGFLAM_uc003jlb.1_Silent_p.R642R|EGFLAM_uc003jle.1_Silent_p.R408R|EGFLAM_uc003jlf.1_Silent_p.R8R NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 642 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TCACATTTCGGCCAGACTCAG 0.527 NA 30 169 2.44e-19 5.9e-19 1 0 EGFLAM 133584 broad.mit.edu 37 5 38427334 38427334 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:38427334C>T uc003jlc.1 + 14 2358 c.2034C>T c.(2032-2034)GGC>GGT p.G678G EGFLAM_uc003jlb.1_Silent_p.G678G|EGFLAM_uc003jle.1_Silent_p.G444G|EGFLAM_uc003jlf.1_Silent_p.G44G NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 678 Laminin G-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) TTGACTGTGGCTCTGGGACCG 0.507 NA 27 230 0 0 0 0 SV2C 22987 broad.mit.edu 37 5 75428020 75428020 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:75428020C>T uc003kei.1 + 2 579 c.445C>T c.(445-447)CGT>TGT p.R149C NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 149 Cytoplasmic (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CGGTCATGGTCGTTTTCAGTG 0.527 NA 23 80 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82786136 82786136 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:82786136A>T uc003kii.3 + 3 646 c.290A>T c.(289-291)TAC>TTC p.Y97F VCAN_uc003kij.3_Missense_Mutation_p.Y97F|VCAN_uc010jau.2_Missense_Mutation_p.Y97F|VCAN_uc003kik.3_Missense_Mutation_p.Y97F|VCAN_uc003kih.3_Missense_Mutation_p.Y97F NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 97 Ig-like V-type. 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) GGTCAGGACTACAAAGGGAGA 0.483 NA 22 69 0 0 0 0 FTMT 94033 broad.mit.edu 37 5 121188322 121188322 + Missense_Mutation SNP G G T rs138610881 byFrequency TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:121188322G>T uc003kss.2 + 1 673 c.664G>T c.(664-666)GAT>TAT p.D222Y NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 222 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GGGGGCCCCGGATGCTGGCCT 0.507 NA 34 93 6.85e-11 1.56e-10 1 0 ISOC1 51015 broad.mit.edu 37 5 128430682 128430682 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:128430682G>A uc003kva.2 + 1 241 c.223G>A c.(223-225)GAG>AAG p.E75K NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 75 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) GCTGTTCGCCGAGGAGTGGGG 0.652 NA 5 16 0 0 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530921 140530921 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:140530921C>A uc003lir.2 + 1 1083 c.1083C>A c.(1081-1083)ATC>ATA p.I361I PCDHB6_uc011dah.1_Silent_p.I225I NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 361 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACCAGAGATCACAGTGGCAG 0.453 NA 14 40 1.58e-08 3.46e-08 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558046 140558046 + Nonsense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:140558046C>G uc011dai.1 + 1 617 c.431C>G c.(430-432)TCA>TGA p.S144* PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 144 Cadherin 2.|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) GTGAAAGTATCAGAGAGCAGT 0.423 NA 13 49 0 0 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768028 140768028 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:140768028G>A uc003lkc.1 + 1 577 c.577G>A c.(577-579)GAG>AAG p.E193K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.E193K NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 193 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAATACCCTGAGATGGTATT 0.443 NA 16 55 0 0 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142292826 142292826 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:142292826G>T uc011dbj.1 + 10 1031 c.996G>T c.(994-996)AAG>AAT p.K332N ARHGAP26_uc003lmt.2_Missense_Mutation_p.K332N|ARHGAP26_uc003lmw.2_Missense_Mutation_p.K332N NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 332 PH. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCATTGAGAAGAGGTTTTGCT 0.428 NA 15 55 1.52e-12 3.55e-12 1 0 SGCD 6444 broad.mit.edu 37 5 156186321 156186321 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:156186321G>C uc003lwd.3 + 8 1266 c.790G>C c.(790-792)GTC>CTC p.V264L SGCD_uc003lwc.3_Missense_Mutation_p.V265L NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 264 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGAGATCTGCGTCTGCGCCAA 0.488 NA 23 77 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169468122 169468122 + Silent SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:169468122G>C uc003maf.2 + 37 3809 c.3729G>C c.(3727-3729)ACG>ACC p.T1243T DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T735T NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1243 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGCCTACACGCTCCTTCTCC 0.502 NA 3 23 0 0 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178770999 178770999 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:178770999G>T uc003mjw.2 - 2 303 c.303C>A c.(301-303)AAC>AAA p.N101K ADAMTS2_uc011dgm.1_Missense_Mutation_p.N101K NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 101 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCTCCTCCTCGTTGCCTCCGG 0.711 NA 18 31 4.97e-08 1.07e-07 1 0 MAPK9 5601 broad.mit.edu 37 5 179666940 179666940 + Silent SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:179666940T>C uc003mls.3 - 10 1315 c.1044A>G c.(1042-1044)GCA>GCG p.A348A MAPK9_uc003mlt.3_Silent_p.A348A|MAPK9_uc010jlc.2_Silent_p.A348A|MAPK9_uc003mlv.3_Silent_p.A348A NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 348 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATTCTTCAATTGCATGTTCTC 0.348 NA 13 23 0 0 0 0 FLT4 2324 broad.mit.edu 37 5 180043408 180043408 + Silent SNP G G T rs68096331 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:180043408G>T uc003mma.3 - 23 3257 c.3178C>A c.(3178-3180)CGG>AGG p.R1060R FLT4_uc003mlz.3_Silent_p.R1060R NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1060 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|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) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TAGATGTCCCGGGCAAGGCCA 0.617 NA Congenital_Hereditary_Lymphedema 12 48 3.07e-06 6.26e-06 1 0 MBOAT1 154141 broad.mit.edu 37 6 20102580 20102580 + Silent SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:20102580T>C uc003ncx.1 - 13 1630 c.1425A>G c.(1423-1425)CCA>CCG p.P475P MBOAT1_uc011dji.1_Silent_p.P326P NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 475 phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TATGAGCTTGTGGTTTCATTG 0.353 NA 11 46 0 0 0 0 OR5V1 81696 broad.mit.edu 37 6 29323758 29323758 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:29323758C>A uc011dlo.1 - 1 297 c.215G>T c.(214-216)TGC>TTC p.C72F NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 GGTGGTGTAGCAGATGTCAAT 0.408 NA 25 78 1.16e-09 2.59e-09 1 0 ZFP57 346171 broad.mit.edu 37 6 29641451 29641451 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:29641451C>G uc011dlw.1 - 4 588 c.437G>C c.(436-438)AGA>ACA p.R146T ZFP57_uc003nnl.3_Missense_Mutation_p.R126T NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 GCCGGCCCCTCTGCATGCAAG 0.557 NA 25 84 0 0 0 0 KCNK16 83795 broad.mit.edu 37 6 39290287 39290287 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:39290287C>A uc003ooq.2 - 1 44 c.30G>T c.(28-30)TGG>TGT p.W10C KCNK16_uc003oor.3_Missense_Mutation_p.W10C|KCNK16_uc010jwy.2_Missense_Mutation_p.W10C|KCNK16_uc011dtz.1_Missense_Mutation_p.W10C NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 10 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 CCCGGCCACCCCAGCAGCTGC 0.657 NA 9 6 2.18e-05 4.3e-05 1 0 VEGFA 7422 broad.mit.edu 37 6 43749750 43749750 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:43749750G>A uc003owh.2 + 7 1634 c.1143G>A c.(1141-1143)ACG>ACA p.T381T VEGFA_uc003owd.2_Silent_p.T340T|VEGFA_uc003owf.2_Silent_p.T364T|VEGFA_uc003owe.2_Silent_p.T340T|VEGFA_uc003owg.2_Silent_p.T358T|VEGFA_uc003owi.2_Silent_p.T340T|VEGFA_uc003owj.2_Intron|VEGFA_uc010jyx.2_Intron|VEGFA_uc003owk.2_Intron NM_001025366 NP_001020537 P15692 VEGFA_HUMAN vascular endothelial growth factor A isoform a 201 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding ovary(1)|breast(1) 2 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) ATCCGCAGACGTGTAAATGTT 0.493 NA 6 28 0 0 0 0 ENPP4 22875 broad.mit.edu 37 6 46107690 46107690 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:46107690C>G uc003oxy.2 + 2 629 c.370C>G c.(370-372)CAG>GAG p.Q124E NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 124 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 GGTGACCAATCAGCTTCAGGA 0.413 NA 19 69 0 0 0 0 DST 667 broad.mit.edu 37 6 56371281 56371281 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:56371281T>A uc003pdf.2 - 71 13095 c.13067A>T c.(13066-13068)GAG>GTG p.E4356V DST_uc003pcz.3_Missense_Mutation_p.E4178V|DST_uc011dxj.1_Missense_Mutation_p.E4207V|DST_uc011dxk.1_Missense_Mutation_p.E4218V|DST_uc003pcy.3_Missense_Mutation_p.E3852V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 6264 Spectrin 13. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGCATTGCCTCCTCAAGTTT 0.418 NA 5 32 0 0 0 0 IMPG1 3617 broad.mit.edu 37 6 76728538 76728538 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:76728538C>A uc003pik.1 - 7 834 c.704G>T c.(703-705)AGG>ATG p.R235M NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 235 SEA 1. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GAGCTCCACCCTCTGCTCCTC 0.433 NA 9 27 0.000274275 0.000509484 1 0 NUS1 116150 broad.mit.edu 37 6 118015291 118015291 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:118015291G>A uc003pxw.2 + 3 856 c.639G>A c.(637-639)CAG>CAA p.Q213Q NM_138459 NP_612468 Q96E22 NGBR_HUMAN nuclear undecaprenyl pyrophosphate synthase 1 213 Cytoplasmic (Potential). angiogenesis|cell differentiation integral to membrane receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups central_nervous_system(1) 1 all_cancers(87;0.0395)|all_epithelial(87;0.0301) GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146) TAGTAGCCCAGAAGCAAAAGA 0.338 NA 5 73 0 0 0 0 C6orf170 221322 broad.mit.edu 37 6 121526220 121526220 + Splice_Site SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:121526220C>T uc003pyo.1 - 22 2638 c.2570_splice c.e22+1 p.R857_splice C6orf170_uc003pyq.1_Splice_Site|C6orf170_uc010kej.1_Intron|C6orf170_uc003pyp.1_Splice_Site_p.R376_splice NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TAGCATTTTACCTTAGACCAA 0.239 NA 15 36 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146480525 146480525 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:146480525G>T uc010khw.1 + 3 1212 c.742G>T c.(742-744)GCT>TCT p.A248S GRM1_uc010khu.1_Missense_Mutation_p.A248S|GRM1_uc010khv.1_Missense_Mutation_p.A248S|GRM1_uc003qll.2_Missense_Mutation_p.A248S|GRM1_uc011edz.1_Missense_Mutation_p.A248S|GRM1_uc011eea.1_Missense_Mutation_p.A248S NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 248 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAAAGAGCTGGCTGCCCAGGA 0.502 NA 17 55 2.35e-11 5.39e-11 1 0 TAB2 23118 broad.mit.edu 37 6 149719163 149719163 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:149719163G>A uc003qmj.2 + 5 2001 c.1823G>A c.(1822-1824)TGC>TAC p.C608Y TAB2_uc011eec.1_Missense_Mutation_p.C576Y|TAB2_uc003qmk.3_RNA|SUMO4_uc003qml.2_5'Flank NM_015093 NP_055908 Q9NYJ8 TAB2_HUMAN mitogen-activated protein kinase kinase kinase 7 608 Potential. activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding 0 GACATTGACTGCTTAACCAAA 0.353 NA 5 16 0 0 0 0 LPA 4018 broad.mit.edu 37 6 161015034 161015034 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr6:161015034C>T uc003qtl.2 - 23 3705 c.3585G>A c.(3583-3585)ATG>ATA p.M1195I NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3703 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGTGTGGTGTCATAGAGGACC 0.488 NA 14 63 0 0 0 0 CRHR2 1395 broad.mit.edu 37 7 30706892 30706892 + Nonsense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:30706892C>T uc003tbn.2 - 3 511 c.267G>A c.(265-267)TGG>TGA p.W89* CRHR2_uc010kvw.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvx.1_Nonsense_Mutation_p.W89*|CRHR2_uc010kvy.1_Intron|CRHR2_uc003tbo.2_Nonsense_Mutation_p.W75*|CRHR2_uc003tbp.2_Nonsense_Mutation_p.W116* NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 89 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 TCTTTGAGGCCCACGTCCCAT 0.532 NA 8 58 0 0 0 0 HGF 3082 broad.mit.edu 37 7 81386541 81386541 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:81386541C>T uc003uhl.2 - 4 611 c.446G>A c.(445-447)TGT>TAT p.C149Y HGF_uc003uhm.2_Missense_Mutation_p.C149Y|HGF_uc003uhn.1_Missense_Mutation_p.C149Y|HGF_uc003uho.1_Missense_Mutation_p.C149Y|HGF_uc003uhp.2_Missense_Mutation_p.C149Y NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 149 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CCAGGGCTGACATTTGATGCC 0.383 NA 16 34 0 0 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86569411 86569411 + Silent SNP T T G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:86569411T>G uc011kha.1 - 6 947 c.762A>C c.(760-762)ACA>ACC p.T254T KIAA1324L_uc003uif.1_Silent_p.T14T|KIAA1324L_uc011kgz.1_Silent_p.T140T|KIAA1324L_uc003uie.2_Silent_p.T87T NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 254 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) AGAGTATGTTTGTGCCTGATT 0.398 NA 12 43 0 0 0 0 AKAP9 10142 broad.mit.edu 37 7 91694575 91694575 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:91694575A>G uc003ulg.2 + 25 6233 c.6008A>G c.(6007-6009)AAG>AGG p.K2003R AKAP9_uc003ulf.2_Missense_Mutation_p.K2003R|AKAP9_uc003uli.2_Missense_Mutation_p.K1626R NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2015 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAATTAATGAAGGAAAAACTA 0.299 NA T BRAF papillary thyroid 28 27 0 0 0 0 GJC3 349149 broad.mit.edu 37 7 99526840 99526840 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:99526840C>A uc011kjd.1 - 1 404 c.404G>T c.(403-405)TGG>TTG p.W135L NM_181538 NP_853516 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 135 Helical; (Potential). connexon complex|integral to membrane ovary(1) 1 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CACATAAGCCCAGAGCAGCCT 0.617 NA 35 208 1.22e-08 2.67e-08 1 0 AZGP1 563 broad.mit.edu 37 7 99565930 99565930 + Nonsense_Mutation SNP C C T rs145427176 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:99565930C>T uc003ush.2 - 3 505 c.461G>A c.(460-462)TGG>TAG p.W154* NM_001185 NP_001176 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc 154 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity p.W154S(1) ovary(1)|central_nervous_system(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GAAGGGGACCCAGGCTGGGAT 0.507 NA 49 274 0 0 0 0 C7orf51 222950 broad.mit.edu 37 7 100086152 100086152 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:100086152G>A uc003uvd.1 + 4 967 c.808G>A c.(808-810)GAA>AAA p.E270K C7orf51_uc003uve.1_Missense_Mutation_p.E52K NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 270 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCGCTGCCGGAAGAGGCTGG 0.687 NA 16 87 0 0 0 0 LRRN3 54674 broad.mit.edu 37 7 110763775 110763775 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:110763775C>T uc003vft.3 + 4 1993 c.947C>T c.(946-948)GCT>GTT p.A316V IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A316V|LRRN3_uc003vfs.3_Missense_Mutation_p.A316V NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 316 Extracellular (Potential).|LRR 11. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AAAATAGAAGCTACTAACAAC 0.418 NA 19 42 0 0 0 0 C7orf60 154743 broad.mit.edu 37 7 112462106 112462106 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:112462106C>T uc003vgo.1 - 5 1038 c.911G>A c.(910-912)CGC>CAC p.R304H C7orf60_uc011kms.1_Missense_Mutation_p.R330H NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN hypothetical protein LOC154743 304 ovary(2)|skin(1) 3 GTACTTGAAGCGTTTAAAGCC 0.398 NA 15 39 0 0 0 0 POT1 25913 broad.mit.edu 37 7 124482972 124482972 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:124482972A>G uc003vlm.2 - 13 1653 c.1052T>C c.(1051-1053)ATT>ACT p.I351T POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.I220T|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 351 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TTGTTTCAAAATGGCACATAG 0.348 NA 5 32 0 0 0 0 OR2A25 392138 broad.mit.edu 37 7 143771537 143771537 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:143771537C>A uc011ktx.1 + 1 225 c.225C>A c.(223-225)AGC>AGA p.S75R NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GTGCTTGCAGCACGGTGCCCC 0.557 NA 37 44 3.63e-18 8.73e-18 1 0 SSPO 23145 broad.mit.edu 37 7 149481149 149481149 + Silent SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:149481149C>G uc010lpk.2 + 18 2631 c.2631C>G c.(2629-2631)CCC>CCG p.P877P SSPO_uc010lpl.1_Silent_p.P212P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 877 TIL 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTGTGCCCCCCAGCTTGTGCC 0.657 NA 3 14 0 0 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174635 150174635 + Missense_Mutation SNP C C T rs139453539 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:150174635C>T uc003whj.2 + 5 2095 c.1765C>T c.(1765-1767)CGC>TGC p.R589C NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 589 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding p.R589H(1) skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGCCCTTCGGCGCATTTTTAA 0.463 NA 16 83 0 0 0 0 HTR5A 3361 broad.mit.edu 37 7 154875975 154875975 + Silent SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr7:154875975C>G uc003wlu.1 + 2 916 c.852C>G c.(850-852)GCC>GCG p.A284A NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 284 Helical; Name=6; (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AGCGGGCCGCCCTCATGGTGG 0.637 NA 24 45 0 0 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497072 1497072 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:1497072G>T uc003wpl.2 + 2 310 c.213G>T c.(211-213)GTG>GTT p.V71V DLGAP2_uc003wpm.2_Silent_p.V71V NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 150 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGCCGGTGGTGCTGGGCGACC 0.721 NA 4 18 1.24e-05 2.47e-05 1 0 ANGPT2 285 broad.mit.edu 37 8 6378820 6378820 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:6378820G>A uc003wqj.3 - 4 1007 c.678C>T c.(676-678)ATC>ATT p.I226I MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.I226I|ANGPT2_uc010lri.2_Silent_p.I174I|ANGPT2_uc003wql.3_Silent_p.I226I NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 226 Potential. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GTTCTTCAATGATGGAATTTT 0.373 NA 8 42 0 0 0 0 FAM160B2 64760 broad.mit.edu 37 8 21957263 21957263 + Silent SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:21957263G>C uc011kyx.1 + 10 1251 c.1200G>C c.(1198-1200)CTG>CTC p.L400L FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 400 0 CAGCCATGCTGCGCCAGCTTC 0.672 NA 11 38 0 0 0 0 ADAM7 8756 broad.mit.edu 37 8 24334017 24334017 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:24334017G>A uc003xeb.2 + 8 818 c.705G>A c.(703-705)ATG>ATA p.M235I ADAM7_uc003xec.2_Missense_Mutation_p.M7I NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 235 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TTGTCAACATGGTAAGATTTG 0.333 NA 6 19 0 0 0 0 ADAM7 8756 broad.mit.edu 37 8 24358343 24358343 + Silent SNP C C T rs149009178 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:24358343C>T uc003xeb.2 + 19 2156 c.2043C>T c.(2041-2043)GTC>GTT p.V681V ADAM7_uc003xec.2_Silent_p.V453V NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 681 Helical; (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) TGGTTATTGTCGGTATCGGAG 0.378 NA 16 70 0 0 0 0 ADRA1A 148 broad.mit.edu 37 8 26628171 26628171 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:26628171G>T uc003xfh.1 - 2 1332 c.896C>A c.(895-897)CCT>CAT p.P299H ADRA1A_uc003xfc.1_Missense_Mutation_p.P299H|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.P299H|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.P299H NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 299 Extracellular (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTTGAAATCAGGGAAGAAAGA 0.393 NA 12 58 5.51e-06 1.11e-05 1 0 LETM2 137994 broad.mit.edu 37 8 38258566 38258566 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:38258566G>A uc003xlm.1 + 6 1009 c.838G>A c.(838-840)GAT>AAT p.D280N LETM2_uc011lbn.1_Missense_Mutation_p.D124N|LETM2_uc003xll.1_Missense_Mutation_p.D232N|LETM2_uc003xln.1_Missense_Mutation_p.D124N|LETM2_uc003xlo.1_Missense_Mutation_p.D124N NM_144652 NP_653253 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane 327 LETM1.|Mitochondrial matrix (Potential). integral to membrane|mitochondrial inner membrane 0 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) AAAAGCAGATGATGAAGTAAG 0.428 NA 32 46 0 0 0 0 ADAM32 203102 broad.mit.edu 37 8 39022556 39022556 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:39022556C>T uc003xmt.3 + 9 919 c.674C>T c.(673-675)ACC>ATC p.T225I ADAM32_uc011lch.1_Missense_Mutation_p.T232I|ADAM32_uc003xmu.3_Missense_Mutation_p.T225I NM_145004 NP_659441 Q8TC27 ADA32_HUMAN a disintegrin and metalloprotease domain 32 225 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) TAGATGTTCACCCAATTTAAA 0.294 NA 20 60 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68044264 68044264 + Silent SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:68044264G>A uc003xxi.2 + 16 1897 c.1866G>A c.(1864-1866)CCG>CCA p.P622P CSPP1_uc003xxg.1_Silent_p.P614P|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Silent_p.P587P|CSPP1_uc003xxk.2_Silent_p.P293P NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 622 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAGATAAACCGAAACCTTCCA 0.353 NA 11 60 0 0 0 0 EYA1 2138 broad.mit.edu 37 8 72211956 72211956 + Splice_Site SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:72211956C>A uc003xys.3 - 7 844 c.557_splice c.e7-1 p.G186_splice EYA1_uc003xyr.3_Splice_Site_p.G181_splice|EYA1_uc003xyt.3_Splice_Site_p.G153_splice|EYA1_uc010lzf.2_Splice_Site_p.G113_splice|EYA1_uc003xyu.2_Splice_Site_p.G186_splice|EYA1_uc011lfe.1_Splice_Site_p.G180_splice|EYA1_uc003xyv.2_Splice_Site_p.G64_splice NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AAACTGCTACCTAAAACAAAA 0.323 NA 21 87 2.46e-09 5.46e-09 1 0 KCNB2 9312 broad.mit.edu 37 8 73480118 73480118 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:73480118G>T uc003xzb.2 + 2 737 c.149G>T c.(148-150)TGG>TTG p.W50L NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 50 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) GAAGTCCTGTGGAGAACGCTG 0.557 NA 41 87 8.48e-28 2.1e-27 1 0 FAM164A 51101 broad.mit.edu 37 8 79598715 79598715 + Missense_Mutation SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:79598715A>G uc003ybd.2 + 4 326 c.224A>G c.(223-225)AAG>AGG p.K75R NM_016010 NP_057094 Q96GY0 F164A_HUMAN hypothetical protein LOC51101 75 ovary(1) 1 GAACCACCAAAGAAACCATCT 0.313 NA 3 9 0 0 0 0 GEM 2669 broad.mit.edu 37 8 95272561 95272561 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:95272561G>T uc003ygj.2 - 2 420 c.171C>A c.(169-171)AGC>AGA p.S57R GEM_uc003ygi.2_Missense_Mutation_p.S57R NM_005261 NP_005252 P55040 GEM_HUMAN GTP-binding mitogen-induced T-cell protein 57 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding lung(1) 1 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) CAGAGGACCAGCTTCGGCGGC 0.602 NA 8 71 5.18e-06 1.05e-05 1 0 GDF6 392255 broad.mit.edu 37 8 97156802 97156802 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:97156802C>T uc003yhp.2 - 2 1457 c.1357G>A c.(1357-1359)GGC>AGC p.G453S NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 453 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) TACCTGCAGCCGCACGACTCC 0.622 NA 5 15 0 0 0 0 VPS13B 157680 broad.mit.edu 37 8 100874157 100874157 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:100874157T>A uc003yiv.2 + 58 11384 c.11273T>A c.(11272-11274)CTG>CAG p.L3758Q VPS13B_uc003yiw.2_Missense_Mutation_p.L3733Q NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3758 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTGTCCCGGCTGGGCATCAGC 0.672 NA 3 7 0 0 0 0 DPYS 1807 broad.mit.edu 37 8 105463544 105463544 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:105463544C>T uc003yly.3 - 2 482 c.353G>A c.(352-354)CGA>CAA p.R118Q NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 118 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCCCAGCTTCGCCAGGTCTC 0.522 NA 10 52 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113243843 113243843 + Nonsense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:113243843C>A uc003ynu.2 - 69 10918 c.10759G>T c.(10759-10761)GGA>TGA p.G3587* CSMD3_uc003yns.2_Nonsense_Mutation_p.G2789*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.G3547*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.G3418* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3587 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 TAAGTAGCTCCATCAGGCTCA 0.323 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 112 0.000151284 0.000288292 1 0 ADCY8 114 broad.mit.edu 37 8 131916241 131916241 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:131916241T>C uc003ytd.3 - 7 1944 c.1688A>G c.(1687-1689)TAT>TGT p.Y563C ADCY8_uc010mds.2_Missense_Mutation_p.Y563C NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 563 Cytoplasmic (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|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTCCACGTTATAGTCACCGTT 0.468 NA HNSCC(32;0.087) 35 211 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141603 133141603 + Missense_Mutation SNP G G A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:133141603G>A uc003ytj.2 - 15 2750 c.2525C>T c.(2524-2526)ACG>ATG p.T842M KCNQ3_uc010mdt.2_Missense_Mutation_p.T830M|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 842 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GAAGGGGTCCGTGTCTGTGTC 0.572 NA 8 52 0 0 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142133 133142133 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:133142133C>A uc003ytj.2 - 15 2220 c.1995G>T c.(1993-1995)TCG>TCT p.S665S KCNQ3_uc010mdt.2_Silent_p.S653S NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 665 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTTCAGCTGGCGAGGAGGTGC 0.532 NA 17 115 3.33e-07 7.07e-07 1 0 KHDRBS3 10656 broad.mit.edu 37 8 136594270 136594270 + Missense_Mutation SNP A A T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:136594270A>T uc003yuv.2 + 6 1155 c.761A>T c.(760-762)TAC>TTC p.Y254F KHDRBS3_uc003yuw.2_Missense_Mutation_p.Y254F|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 254 Pro-rich. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) CCAACTGGGTACAGACCTCCA 0.557 NA 6 56 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139323163 139323163 + Silent SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:139323163C>T uc003yuy.2 - 3 249 c.78G>A c.(76-78)GGG>GGA p.G26G FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 26 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TCTGGTAATACCTAAGAAAAG 0.468 NA HNSCC(54;0.14) 10 55 0 0 0 0 DENND3 22898 broad.mit.edu 37 8 142188188 142188188 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:142188188C>T uc003yvy.2 + 16 2767 c.2489C>T c.(2488-2490)GCG>GTG p.A830V DENND3_uc010mep.2_Missense_Mutation_p.A791V NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 830 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GTCCAGCAGGCGCTGACCAAC 0.517 NA 14 45 0 0 0 0 CYP11B2 1585 broad.mit.edu 37 8 143994781 143994781 + Silent SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:143994781G>T uc003yxk.1 - 6 1044 c.1041C>A c.(1039-1041)GCC>GCA p.A347A NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 347 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) TGCTGGCTGCGGCGGCCAGGC 0.642 NA Familial_Hyperaldosteronism_type_I 15 93 3.46e-05 6.8e-05 1 0 IFNA4 3441 broad.mit.edu 37 9 21187364 21187364 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:21187364C>A uc003zon.2 - 1 235 c.167G>T c.(166-168)AGA>ATA p.R56I NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 56 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAAATCATGTCTGTCCTTCAG 0.522 NA 98 140 5.34e-38 1.33e-37 1 0 RECK 8434 broad.mit.edu 37 9 36083451 36083451 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:36083451C>T uc003zyv.2 + 8 615 c.529C>T c.(529-531)CCA>TCA p.P177S RECK_uc010mld.2_Missense_Mutation_p.P177S|RECK_uc003zyu.3_Missense_Mutation_p.P177S|RECK_uc003zyw.2_Missense_Mutation_p.P49S|RECK_uc003zyx.2_RNA NM_021111 NP_066934 O95980 RECK_HUMAN RECK protein precursor 177 5 X Knot repeats.|Knot 3. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) TTCTCCTGGTCCATCTCAGAT 0.408 NA 15 89 0 0 0 0 FBXO10 26267 broad.mit.edu 37 9 37518331 37518331 + Missense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:37518331T>A uc004aab.2 - 9 2354 c.2305A>T c.(2305-2307)ACC>TCC p.T769S FBXO10_uc004aac.2_Missense_Mutation_p.T785S|FBXO10_uc004aad.2_Missense_Mutation_p.T319S NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 769 PbH1 15. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) GCCACTCGGGTGGGTTGGCTG 0.567 NA 23 24 0 0 0 0 DCAF10 79269 broad.mit.edu 37 9 37860055 37860055 + Silent SNP A A G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:37860055A>G uc004aao.2 + 6 1250 c.1176A>G c.(1174-1176)CCA>CCG p.P392P DCAF10_uc010mlz.2_Silent_p.P219P|DCAF10_uc004aap.2_Silent_p.P43P NM_024345 NP_077321 Q5QP82 DCA10_HUMAN WD repeat domain 32 392 CUL4 RING ubiquitin ligase complex central_nervous_system(1) 1 GAGTTTCACCACGAAATAGTC 0.448 NA 4 77 0 0 0 0 TRPM3 80036 broad.mit.edu 37 9 73151901 73151901 + Silent SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:73151901T>A uc004aid.2 - 25 4336 c.4092A>T c.(4090-4092)CTA>CTT p.L1364L TRPM3_uc004ahu.2_Silent_p.L1206L|TRPM3_uc004ahv.2_Silent_p.L1166L|TRPM3_uc004ahw.2_Silent_p.L1236L|TRPM3_uc004ahx.2_Silent_p.L1223L|TRPM3_uc004ahy.2_Silent_p.L1226L|TRPM3_uc004ahz.2_Silent_p.L1213L|TRPM3_uc004aia.2_Silent_p.L1211L|TRPM3_uc004aib.2_Silent_p.L1201L|TRPM3_uc004aic.2_Intron NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1389 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TAGCCCGGTGTAGGCTCAGGG 0.463 NA 36 114 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118973930 118973930 + Nonsense_Mutation SNP T T A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:118973930T>A uc004bjn.2 + 4 2018 c.1637T>A c.(1636-1638)TTG>TAG p.L546* PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 546 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GGCATTGTCTTGAACCCATCT 0.502 NA 22 64 0 0 0 0 OR1L3 26735 broad.mit.edu 37 9 125438052 125438052 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr9:125438052T>C uc011lzb.1 + 1 644 c.644T>C c.(643-645)ATC>ACC p.I215T NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 215 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTCTGTATCATCATCTCTTAT 0.488 NA 22 91 0 0 0 0 FANCB 2187 broad.mit.edu 37 X 14882732 14882732 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:14882732C>G uc004cwg.1 - 3 1169 c.901G>C c.(901-903)GTA>CTA p.V301L FANCB_uc004cwh.1_Missense_Mutation_p.V301L NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 301 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) ATAAAGGATACAACGAAAAAG 0.378 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 9 39 0 0 0 0 CDKL5 6792 broad.mit.edu 37 X 18638053 18638053 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:18638053G>T uc004cym.2 + 16 2596 c.2343G>T c.(2341-2343)AGG>AGT p.R781S CDKL5_uc004cyn.2_Missense_Mutation_p.R781S NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 781 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GATTTTTCAGGTCAATGAAAA 0.289 NA 8 14 1.26e-09 2.82e-09 1 0 PHKA2 5256 broad.mit.edu 37 X 18913306 18913306 + Missense_Mutation SNP G G A rs148627941 TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:18913306G>A uc004cyv.3 - 31 3716 c.3286C>T c.(3286-3288)CAC>TAC p.H1096Y PHKA2_uc004cyu.3_Missense_Mutation_p.H402Y|PHKA2_uc010nfe.1_Missense_Mutation_p.H128Y|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1096 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) GAGAGACCGTGGCACTGGAGG 0.552 NA 23 65 0 0 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158123 26158123 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:26158123C>A uc004dbq.1 + 2 1208 c.1021C>A c.(1021-1023)CAT>AAT p.H341N NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 341 protein binding central_nervous_system(1) 1 CAGCTTCTCCCATGCTAAGTG 0.502 NA 3 9 0.004672 0.00828519 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973487 29973487 + Missense_Mutation SNP G G C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:29973487G>C uc004dby.2 + 11 2149 c.1641G>C c.(1639-1641)TTG>TTC p.L547F NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 547 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GCAACAAGTTGAACTCCAAGT 0.448 NA 7 16 0 0 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269597 30269597 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:30269597C>A uc004dcc.2 + 4 1307 c.987C>A c.(985-987)GCC>GCA p.A329A MAGEB1_uc004dcd.2_Silent_p.A329A|MAGEB1_uc004dce.2_Silent_p.A329A NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 329 0 GCACTACTGCCACGACTTTTA 0.532 NA 13 54 2.27e-07 4.84e-07 1 0 DMD 1756 broad.mit.edu 37 X 32366523 32366523 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:32366523C>T uc004dda.1 - 38 5692 c.5448G>A c.(5446-5448)ATG>ATA p.M1816I DMD_uc004dcw.2_Missense_Mutation_p.M472I|DMD_uc004dcx.2_Missense_Mutation_p.M475I|DMD_uc004dcz.2_Missense_Mutation_p.M1693I|DMD_uc004dcy.1_Missense_Mutation_p.M1812I|DMD_uc004ddb.1_Missense_Mutation_p.M1808I|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1816 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ACCAATTTACCATATCTTTAT 0.353 NA 12 37 0 0 0 0 RPGR 6103 broad.mit.edu 37 X 38145138 38145138 + Silent SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:38145138T>C uc004ded.1 - 15 3282 c.3114A>G c.(3112-3114)GAA>GAG p.E1038E RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 cctcctctccttcctcttcct 0.045 NA 3 12 0 0 0 0 PFKFB1 5207 broad.mit.edu 37 X 54978369 54978369 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:54978369C>G uc004dty.1 - 8 886 c.815G>C c.(814-816)GGT>GCT p.G272A PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.G207A NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 272 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 GCCAGAGTCACCTCCGATGCG 0.582 NA 8 11 0 0 0 0 MTMR8 55613 broad.mit.edu 37 X 63563520 63563520 + Missense_Mutation SNP T T G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:63563520T>G uc004dvs.2 - 8 1014 c.946A>C c.(946-948)ATT>CTT p.I316L MTMR8_uc011mou.1_Missense_Mutation_p.I316L|MTMR8_uc004dvt.1_Missense_Mutation_p.I316L NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 316 Myotubularin phosphatase. nuclear envelope protein tyrosine phosphatase activity ovary(2)|breast(2) 4 GCATCCATAATAGCTTTAATG 0.323 NA 4 15 0 0 0 0 AWAT2 158835 broad.mit.edu 37 X 69262102 69262102 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:69262102T>C uc004dxt.1 - 6 788 c.782A>G c.(781-783)TAT>TGT p.Y261C NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 261 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 GCCACGTCCATAGAAAGCACA 0.537 NA 12 26 0 0 0 0 TAF9B 51616 broad.mit.edu 37 X 77393354 77393354 + Silent SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:77393354T>C uc004eda.2 - 4 368 c.297A>G c.(295-297)AAA>AAG p.K99K NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 99 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 GGGTTTGATTTTTCTGCCTTG 0.343 NA 20 55 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79999597 79999597 + Missense_Mutation SNP C C G TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:79999597C>G uc004edt.2 - 8 1010 c.747G>C c.(745-747)TGG>TGC p.W249C BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_Missense_Mutation_p.W78C|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_5'UTR|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 249 WD 3. ovary(4) 4 TTCGAAGACACCATACTCTTA 0.413 NA 8 43 0 0 0 0 DACH2 117154 broad.mit.edu 37 X 85969660 85969660 + Silent SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:85969660C>A uc004eew.2 + 6 1211 c.1041C>A c.(1039-1041)GCC>GCA p.A347A DACH2_uc004eex.2_Silent_p.A334A|DACH2_uc010nmq.2_Silent_p.A213A|DACH2_uc011mra.1_Silent_p.A180A|DACH2_uc010nmr.2_Silent_p.A128A|DACH2_uc004eey.2_Silent_p.A30A|DACH2_uc004eez.2_Silent_p.A30A NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ATACTATTGCCAACATGGCTG 0.448 NA 8 65 0.000442599 0.000813707 1 0 ARMCX2 9823 broad.mit.edu 37 X 100912388 100912388 + Missense_Mutation SNP T T C TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:100912388T>C uc004eid.2 - 3 542 c.187A>G c.(187-189)ATC>GTC p.I63V ARMCX2_uc004eie.3_Missense_Mutation_p.I63V|ARMCX2_uc004eif.3_Missense_Mutation_p.I63V|ARMCX2_uc004eig.3_Missense_Mutation_p.I63V|ARMCX2_uc010nnt.2_Missense_Mutation_p.I63V NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 63 integral to membrane binding ovary(6) 6 CCAAGGTCGATTGTGAATCCG 0.463 NA 15 59 0 0 0 0 DCX 1641 broad.mit.edu 37 X 110644217 110644217 + Splice_Site SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:110644217C>A uc004epd.2 - 3 1120 c.948_splice c.e3+1 p.Q316_splice DCX_uc011msv.1_Splice_Site_p.Q316_splice|DCX_uc004epe.2_Splice_Site_p.Q235_splice|DCX_uc004epf.2_Splice_Site_p.Q235_splice|DCX_uc004epg.2_Splice_Site_p.Q235_splice NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 AAAGTACCTACCTGTTTTCCA 0.398 NA 31 116 1.08e-15 2.57e-15 1 0 LUZP4 51213 broad.mit.edu 37 X 114540770 114540770 + Nonsense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:114540770G>T uc004eqa.2 + 4 377 c.343G>T c.(343-345)GAG>TAG p.E115* LUZP4_uc004eqb.2_Nonsense_Mutation_p.E33* NM_016383 NP_057467 Q9P127 LUZP4_HUMAN leucine zipper protein 4 115 nucleus ovary(2) 2 TCCTTTTCAGGAGAAGTGCAG 0.378 NA 6 32 0.00116845 0.00211096 1 0 GPC3 2719 broad.mit.edu 37 X 133087117 133087117 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:133087117C>A uc004exe.1 - 2 487 c.297G>T c.(295-297)GAG>GAT p.E99D GPC3_uc010nrn.1_Missense_Mutation_p.E99D|GPC3_uc011mvh.1_Intron|GPC3_uc010nro.1_Intron|GPC3_uc010nrp.1_5'UTR NM_004484 NP_004475 P51654 GPC3_HUMAN glypican 3 isoform 2 precursor 99 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity lung(2)|prostate(1)|breast(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGAACTTGAGCTCCATACTTG 0.438 NA T|D|Mis|N|F|S Wilms tumour Simpson-Golabi-Behmel_syndrome 31 174 5.6e-13 1.32e-12 1 0 MCF2 4168 broad.mit.edu 37 X 138708352 138708352 + Missense_Mutation SNP C C A TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:138708352C>A uc004fau.2 - 6 981 c.687G>T c.(685-687)CAG>CAT p.Q229H MCF2_uc004fav.2_Missense_Mutation_p.Q229H|MCF2_uc011mwl.1_Missense_Mutation_p.Q190H|MCF2_uc010nsh.1_Missense_Mutation_p.Q229H|MCF2_uc011mwm.1_Missense_Mutation_p.Q190H|MCF2_uc011mwn.1_Missense_Mutation_p.Q374H|MCF2_uc004faw.2_Missense_Mutation_p.Q289H|MCF2_uc011mwo.1_Missense_Mutation_p.Q289H NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 229 Spectrin. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TTTAACTGACCTGTTGAAAAT 0.348 NA 11 67 4.69e-08 1.01e-07 1 0 DNASE1L1 1774 broad.mit.edu 37 X 153631469 153631469 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:153631469G>T uc004fks.1 - 7 779 c.588C>A c.(586-588)GAC>GAA p.D196E RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fku.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkv.1_Missense_Mutation_p.D196E|DNASE1L1_uc004fkw.1_Missense_Mutation_p.D196E NM_006730 NP_006721 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 precursor 196 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTCCAGCTTGTCCAGGCGCT 0.622 NA 22 67 6.45e-10 1.45e-09 1 0 PLXNA3 55558 broad.mit.edu 37 X 153695707 153695707 + Missense_Mutation SNP C C T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:153695707C>T uc004flm.2 + 19 3507 c.3334C>T c.(3334-3336)CGC>TGC p.R1112C NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1112 IPT/TIG 3.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCAAACGGCCCGCTCCCTCAA 0.652 NA 9 57 0 0 0 0 TMLHE 55217 broad.mit.edu 37 X 154736700 154736700 + Missense_Mutation SNP G G T TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chrX:154736700G>T uc004fnn.2 - 6 1020 c.854C>A c.(853-855)GCA>GAA p.A285E TMLHE_uc004fno.2_Missense_Mutation_p.A285E|TMLHE_uc004fnp.3_Missense_Mutation_p.A285E NM_018196 NP_060666 Q9NVH6 TMLH_HUMAN trimethyllysine hydroxylase, epsilon 285 carnitine biosynthetic process mitochondrial matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity ovary(1) 1 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Succinic acid(DB00139)|Vitamin C(DB00126) TTCCTCAGGTGCCTTTTGAAG 0.418 NA 39 104 1.03e-13 2.44e-13 1 0 MYBPC1 4604 broad.mit.edu 37 12 102040650 102040650 + Frame_Shift_Del DEL G G - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:102040650delG uc001tii.2 + 11 1102 c.1000delG c.(1000-1002)GAGfs p.E334fs MYBPC1_uc001tif.1_Frame_Shift_Del_p.E347fs|MYBPC1_uc001tig.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc010svq.1_Frame_Shift_Del_p.E321fs|MYBPC1_uc001tih.2_Frame_Shift_Del_p.E359fs|MYBPC1_uc001tij.2_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svr.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svs.1_Frame_Shift_Del_p.E334fs|MYBPC1_uc010svt.1_Frame_Shift_Del_p.E322fs|MYBPC1_uc010svu.1_Frame_Shift_Del_p.E315fs|MYBPC1_uc001tik.2_Frame_Shift_Del_p.E308fs NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 334 Ig-like C2-type 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 ATGTTCCACTGAGCTCTTCGT 0.413 NA 35 52 --- --- --- --- NA NA NA NA RILPL1 353116 broad.mit.edu 37 12 124008061 124008065 + Frame_Shift_Del DEL CTCCT CTCCT - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr12:124008061_124008065delCTCCT uc001ufe.2 - 2 673_677 c.437_441delAGGAG c.(436-441)GAGGAGfs p.E146fs RILPL1_uc010tas.1_Frame_Shift_Del_p.E146fs NM_178314 NP_847884 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 146_147 Potential. neuroprotection cytosol 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) TCTGGAACTCCTCCTCTGAGAAATT 0.585 NA 10 98 --- --- --- --- NA NA NA NA KLHL1 57626 broad.mit.edu 37 13 70681720 70681720 + Frame_Shift_Del DEL G G - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:70681720delG uc001vip.2 - 1 906 c.112delC c.(112-114)CTGfs p.L38fs KLHL1_uc010thm.1_Frame_Shift_Del_p.L38fs|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 38 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCCTGTTGCAGGCAGCCTCCC 0.607 NA 7 24 --- --- --- --- NA NA NA NA ITGBL1 9358 broad.mit.edu 37 13 102359121 102359121 + Frame_Shift_Del DEL C C - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr13:102359121delC uc001vpb.2 + 9 1367 c.1148delC c.(1147-1149)TCCfs p.S383fs ITGBL1_uc010agb.2_Frame_Shift_Del_p.S334fs|ITGBL1_uc001vpc.3_Frame_Shift_Del_p.S242fs NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 383 VIII.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCACATGTTCCTGTGGTCGC 0.468 NA 22 45 --- --- --- --- NA NA NA NA SRCAP 10847 broad.mit.edu 37 16 30748614 30748614 + Frame_Shift_Del DEL A A - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr16:30748614delA uc002dze.1 + 34 7638 c.7253delA c.(7252-7254)CATfs p.H2418fs SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Del_p.H2213fs NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2418 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) ATATCCGCCCATCAAACTCGC 0.517 NA 10 34 --- --- --- --- NA NA NA NA C2orf44 80304 broad.mit.edu 37 2 24253907 24253908 + Frame_Shift_Del DEL AA AA - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:24253907_24253908delAA uc002rep.2 - 4 2192_2193 c.2061_2062delTT c.(2059-2064)TTTTCTfs p.F687fs C2orf44_uc010eya.2_3'UTR NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 687_688 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGACTGTGAGAAAAAGAGTCTC 0.475 NA 9 105 --- --- --- --- NA NA NA NA SLC11A1 6556 broad.mit.edu 37 2 219257742 219257743 + Frame_Shift_Ins INS - - CT TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:219257742_219257743insCT uc002vhv.2 + 12 1543_1544 c.1203_1204insCT c.(1201-1206)GTCCTCfs p.V401fs SLC11A1_uc010fvp.1_3'UTR|SLC11A1_uc010fvq.1_3'UTR|SLC11A1_uc010zkc.1_Frame_Shift_Ins_p.V334fs|SLC11A1_uc002vhu.1_Frame_Shift_Ins_p.V196fs|SLC11A1_uc002vhw.2_Frame_Shift_Ins_p.V283fs|SLC11A1_uc010fvr.2_Frame_Shift_Ins_p.V196fs NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 401_402 Helical; (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCGCCCGTGTCCTCCTCACCCG 0.634 NA 10 42 --- --- --- --- NA NA NA NA DIS3L2 129563 broad.mit.edu 37 2 233194619 233194619 + Frame_Shift_Del DEL G G - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr2:233194619delG uc010fxz.2 + 15 2112 c.1836delG c.(1834-1836)CCGfs p.P612fs DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 612 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GGCACCCCCCGCCCCAAACAA 0.652 NA 11 41 --- --- --- --- NA NA NA NA PCDHGA2 56113 broad.mit.edu 37 5 140719785 140719785 + Frame_Shift_Del DEL C C - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr5:140719785delC uc003ljk.1 + 1 1432 c.1247delC c.(1246-1248)TCCfs p.S416fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Frame_Shift_Del_p.S416fs NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 416 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACAGTTTTCCTTTTACAAC 0.478 NA 10 54 --- --- --- --- NA NA NA NA FZD3 7976 broad.mit.edu 37 8 28413285 28413285 + Frame_Shift_Del DEL G G - TCGA-CR-7399-01A-11D-2012-08 TCGA-CR-7399-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0a76ba15-f6e5-484f-8a52-9be8351ebdb7 56cff3ff-2ff4-407f-9eae-6b56d8f2f214 g.chr8:28413285delG uc003xgx.2 + 7 2062 c.1584delG c.(1582-1584)CAGfs p.Q528fs FZD3_uc010lvb.2_Frame_Shift_Del_p.Q528fs NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 528 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) AGGTACTCCAGGAACCTGATT 0.418 NA 22 80 --- --- --- --- NA NA NA NA