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 AJAP1 55966 broad.mit.edu 37 1 4832510 4832510 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:4832510C>T uc001alm.1 + 4 1469 c.1088C>T c.(1087-1089)GCA>GTA p.A363V AJAP1_uc001aln.2_Missense_Mutation_p.A363V NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 363 Targeting signals.|Cytoplasmic (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) TGCGTCAGGGCATCTGTGCCC 0.587 NA 7 52 0 0 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835290 12835290 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:12835290C>T uc001aui.2 + 1 307 c.280C>T c.(280-282)CGC>TGC p.R94C NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 94 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGAAGGTTCGCCCCAGGTG 0.592 NA 34 94 0 0 0 0 PADI3 51702 broad.mit.edu 37 1 17603133 17603133 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:17603133G>T uc001bai.2 + 12 1467 c.1427G>T c.(1426-1428)AGC>ATC p.S476I NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 476 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GAGTTTCTGAGCTTTGTCCCT 0.607 NA 11 124 2.81e-09 3.07e-09 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21928278 21928278 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:21928278C>T uc001bex.2 - 20 1809 c.1551G>A c.(1549-1551)CCG>CCA p.P517P RAP1GAP_uc001bev.2_Silent_p.P602P|RAP1GAP_uc001bew.2_Silent_p.P581P|RAP1GAP_uc001bey.2_Silent_p.P543P NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 517 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TCTGACCAGCCGGAGGGCTCT 0.667 NA 26 41 0 0 0 0 SFRS4 6429 broad.mit.edu 37 1 29475408 29475408 + Silent SNP C C T rs145832785 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:29475408C>T uc001bro.2 - 6 1372 c.999G>A c.(997-999)CGG>CGA p.R333R SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 333 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) tgctcctgctccggctccgac 0.01 NA 3 41 0 0 0 0 EPS15 2060 broad.mit.edu 37 1 51822456 51822456 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:51822456C>G uc001csq.1 - 25 2699 c.2607G>C c.(2605-2607)CAG>CAC p.Q869H EPS15_uc009vyz.1_Missense_Mutation_p.Q735H|EPS15_uc001csp.3_Missense_Mutation_p.Q555H NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 869 UIM 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 GGGCAAGCCTCTGCTCTTCCT 0.413 NA T MLL ALL 32 87 0 0 0 0 ZYG11B 79699 broad.mit.edu 37 1 53222179 53222179 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:53222179C>T uc001cuj.2 + 2 275 c.80C>T c.(79-81)ACT>ATT p.T27I ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.T18I NM_024646 NP_078922 Q9C0D3 ZY11B_HUMAN zyg-11 homolog B 27 protein binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 AATTTCTTGACTACTCACCTT 0.453 NA 17 152 0 0 0 0 ODF2L 57489 broad.mit.edu 37 1 86852648 86852648 + Missense_Mutation SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:86852648T>C uc001dll.1 - 2 403 c.63A>G c.(61-63)ATA>ATG p.I21M ODF2L_uc001dlm.1_Missense_Mutation_p.I21M|ODF2L_uc001dln.2_Missense_Mutation_p.I21M|ODF2L_uc001dlo.2_Translation_Start_Site|ODF2L_uc001dlp.2_Missense_Mutation_p.I21M|ODF2L_uc010osg.1_Missense_Mutation_p.I21M|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 21 centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) CTTTCTCTGATATAGTTTTAA 0.378 NA 22 131 0 0 0 0 PIAS3 10401 broad.mit.edu 37 1 145581474 145581474 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:145581474C>G uc001eoc.1 + 9 1146 c.1055C>G c.(1054-1056)GCC>GGC p.A352G NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.A21G NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 352 SP-RING-type. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCGATGCTGCCCTTTATCTA 0.517 NA 23 141 0 0 0 0 ARNT 405 broad.mit.edu 37 1 150784502 150784502 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:150784502C>T uc001evr.1 - 22 2508 c.2365G>A c.(2365-2367)GAA>AAA p.E789K ARNT_uc010pck.1_Missense_Mutation_p.E277K|ARNT_uc001evs.1_Missense_Mutation_p.E774K|ARNT_uc009wmb.1_Missense_Mutation_p.E775K|ARNT_uc009wmc.1_Missense_Mutation_p.E787K|ARNT_uc009wmd.1_Missense_Mutation_p.E773K NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 789 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TAGTTCTATTCTGAAAAGGGG 0.393 NA T ETV6 AML 16 84 0 0 0 0 VANGL2 57216 broad.mit.edu 37 1 160394043 160394043 + Missense_Mutation SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:160394043A>T uc001fwb.1 + 8 1574 c.1275A>T c.(1273-1275)GAA>GAT p.E425D VANGL2_uc001fwc.1_Missense_Mutation_p.E425D NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 425 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGCACCTTGAATTCTGCATCA 0.567 NA 17 42 0 0 0 0 FAM5C 339479 broad.mit.edu 37 1 190068182 190068182 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:190068182T>A uc001gse.1 - 8 1499 c.1267A>T c.(1267-1269)ACG>TCG p.T423S FAM5C_uc010pot.1_Missense_Mutation_p.T321S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 423 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CACGAGTGCGTCTCTTCTGAA 0.542 NA 11 34 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197074167 197074167 + Missense_Mutation SNP C C T rs143092798 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:197074167C>T uc001gtu.2 - 18 4471 c.4214G>A c.(4213-4215)CGT>CAT p.R1405H ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1405 IQ 2. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TAAATAAGCACGCCAATGCCT 0.313 NA 25 116 0 0 0 0 CD34 947 broad.mit.edu 37 1 208084367 208084367 + Missense_Mutation SNP A A G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:208084367A>G uc001hgw.1 - 1 317 c.59T>C c.(58-60)CTT>CCT p.L20P CD34_uc001hgx.1_Missense_Mutation_p.L20P|CD34_uc010psj.1_5'UTR NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 20 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 CAGCAAGCAAAGCGCGGTCCA 0.607 NA 4 11 0 0 0 0 TMEM206 55248 broad.mit.edu 37 1 212560368 212560368 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:212560368G>A uc001hjc.3 - 3 376 c.208C>T c.(208-210)CTC>TTC p.L70F TMEM206_uc010pte.1_Missense_Mutation_p.L131F NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 70 Helical; (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) ATGAAGATGAGTAGGACCGAG 0.542 NA 22 93 0 0 0 0 NLRP3 114548 broad.mit.edu 37 1 247608112 247608112 + Silent SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:247608112G>C uc001icr.2 + 10 3138 c.3000G>C c.(2998-3000)CTG>CTC p.L1000L NLRP3_uc001ics.2_Silent_p.L943L|NLRP3_uc001icu.2_Silent_p.L1000L|NLRP3_uc001icw.2_Silent_p.L943L|NLRP3_uc001icv.2_Silent_p.L886L|NLRP3_uc010pyw.1_Silent_p.L978L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 1000 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) GCTGCCTCCTGCAGAACCTGG 0.562 NA 12 65 0 0 0 0 OR13G1 441933 broad.mit.edu 37 1 247836069 247836069 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:247836069G>C uc001idi.1 - 1 275 c.275C>G c.(274-276)GCA>GGA p.A92G NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CATGCAGCCTGCATATGAAAT 0.483 NA 6 56 0 0 0 0 ZNF672 79894 broad.mit.edu 37 1 249142664 249142664 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr1:249142664C>T uc001iex.2 + 4 1886 c.1191C>T c.(1189-1191)TGC>TGT p.C397C NM_024836 NP_079112 Q499Z4 ZN672_HUMAN zinc finger protein 672 397 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CAGCGGAGTGCGCAGAGTGCG 0.677 NA 3 14 0 0 0 0 ANKRD26 22852 broad.mit.edu 37 10 27324102 27324102 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr10:27324102C>T uc001ith.2 - 24 3446 c.3274G>A c.(3274-3276)GGT>AGT p.G1092S ANKRD26_uc001itg.2_Missense_Mutation_p.G779S|ANKRD26_uc009xku.1_Missense_Mutation_p.G1093S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1092 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CGTTCTAAACCCAAAGTCTTT 0.348 NA 17 226 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29776096 29776096 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr10:29776096G>A uc001iut.1 - 24 5234 c.4481C>T c.(4480-4482)GCG>GTG p.A1494V LOC387647_uc001iuq.1_RNA|SVIL_uc010qdw.1_Missense_Mutation_p.A408V|SVIL_uc001iuu.1_Missense_Mutation_p.A1068V|SVIL_uc009xlc.2_Missense_Mutation_p.A286V NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1494 Gelsolin-like 1.|Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) ACCAACCTTCGCCTTTTCTAT 0.502 NA 6 29 0 0 0 0 MMRN2 79812 broad.mit.edu 37 10 88696664 88696664 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr10:88696664G>A uc001kea.2 - 7 2813 c.2686C>T c.(2686-2688)CCA>TCA p.P896S MMRN2_uc010qmn.1_Missense_Mutation_p.P539S NM_024756 NP_079032 Q9H8L6 MMRN2_HUMAN multimerin 2 precursor 896 C1q. extracellular space large_intestine(1) 1 GTACAGACTGGAGTCCGATGG 0.597 NA 29 275 0 0 0 0 GPR120 338557 broad.mit.edu 37 10 95326706 95326706 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr10:95326706C>A uc010qnt.1 + 1 285 c.229C>A c.(229-231)CTG>ATG p.L77M GPR120_uc010qnu.1_Missense_Mutation_p.L77M NM_181745 NP_859529 Q5NUL3 O3FA1_HUMAN G protein-coupled receptor 120 77 Cytoplasmic (Potential). negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport integral to membrane|plasma membrane fatty acid binding 0 Colorectal(252;0.122) GACTGCCTGCCTGGTACTCAA 0.677 NA 3 43 0.004672 0.00480346 1 0 TRIM21 6737 broad.mit.edu 37 11 4409647 4409647 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:4409647C>T uc001lyy.1 - 4 731 c.618G>A c.(616-618)GAG>GAA p.E206E NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 206 Potential. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) TTCTCAGCTGCTCCCTCTCAT 0.542 NA 86 204 0 0 0 0 SLC43A1 8501 broad.mit.edu 37 11 57261527 57261527 + Silent SNP G G A rs146290858 byFrequency TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:57261527G>A uc001nkk.2 - 8 928 c.810C>T c.(808-810)GAC>GAT p.D270D SLC43A1_uc001nkl.2_Silent_p.D270D NM_003627 NP_003618 O75387 LAT3_HUMAN solute carrier family 43, member 1 270 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity 0 CATCCGAACCGTCCTCCAGGC 0.612 NA OREG0020651 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 58 0 0 0 0 ZFP91 80829 broad.mit.edu 37 11 58379154 58379154 + Missense_Mutation SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:58379154A>T uc001nmx.3 + 6 968 c.800A>T c.(799-801)GAG>GTG p.E267V ZFP91_uc001nmy.3_Missense_Mutation_p.E266V|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 267 Glu-rich. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) gtggaagtagaggtggaggtg 0.189 NA 5 35 0 0 0 0 MRPL49 740 broad.mit.edu 37 11 64893285 64893285 + Silent SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:64893285C>A uc001oda.1 + 4 533 c.442C>A c.(442-444)CGG>AGG p.R148R MRPL49_uc001ocz.1_RNA NM_004927 NP_004918 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 148 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 AGGTACCCTACGGATCAAGGG 0.567 NA 37 140 3.33e-15 3.82e-15 1 0 ODZ4 26011 broad.mit.edu 37 11 78443447 78443447 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:78443447G>A uc001ozl.3 - 21 3515 c.3052C>T c.(3052-3054)CGC>TGC p.R1018C NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1018 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 GGGTTGGGGCGGGCAAAATTG 0.552 NA 15 35 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92523277 92523277 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:92523277G>C uc001pdj.3 + 7 4521 c.4504G>C c.(4504-4506)GAC>CAC p.D1502H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1502 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TAGCAGCATCGACTCCATCAG 0.507 NA TCGA Ovarian(4;0.039) 20 182 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92534060 92534060 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:92534060C>T uc001pdj.3 + 9 7898 c.7881C>T c.(7879-7881)CCC>CCT p.P2627P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2627 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCATAGATCCCGATGATGGAG 0.498 NA TCGA Ovarian(4;0.039) 9 20 0 0 0 0 CNTN5 53942 broad.mit.edu 37 11 99690441 99690441 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:99690441G>A uc001pga.2 + 4 561 c.222G>A c.(220-222)CAG>CAA p.Q74Q CNTN5_uc009ywv.1_Silent_p.Q74Q|CNTN5_uc001pfz.2_Silent_p.Q74Q|CNTN5_uc001pgb.2_Intron NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 74 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) GGGCAGCTCAGAATTATTATT 0.363 NA 3 28 0 0 0 0 FAM55A 120400 broad.mit.edu 37 11 114392969 114392969 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:114392969G>A uc001ppa.2 - 6 1356 c.939C>T c.(937-939)ATC>ATT p.I313I FAM55A_uc010rxd.1_Silent_p.I162I NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 455 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) TTTGAACACCGATGGCCCTGC 0.433 NA 10 89 0 0 0 0 PKNOX2 63876 broad.mit.edu 37 11 125301235 125301235 + Nonsense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:125301235C>T uc001qbu.2 + 13 1680 c.1366C>T c.(1366-1368)CAG>TAG p.Q456* PKNOX2_uc010saz.1_Nonsense_Mutation_p.Q427*|PKNOX2_uc010sba.1_Nonsense_Mutation_p.Q427*|PKNOX2_uc010sbb.1_Nonsense_Mutation_p.Q392*|PKNOX2_uc001qbv.2_Nonsense_Mutation_p.Q221* NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 456 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CGACGAGCTGCAGACGACAAA 0.413 NA 4 41 0 0 0 0 SRPR 6734 broad.mit.edu 37 11 126137475 126137475 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:126137475C>G uc001qdh.2 - 3 385 c.334G>C c.(334-336)GAT>CAT p.D112H SRPR_uc010sbm.1_Missense_Mutation_p.D84H|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 112 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) TTTTGGAAATCAAAAGTGCCA 0.418 NA 10 106 0 0 0 0 IQSEC3 440073 broad.mit.edu 37 12 247993 247993 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:247993C>T uc001qhw.1 + 1 561 c.555C>T c.(553-555)GTC>GTT p.V185V IQSEC3_uc001qhu.1_Silent_p.V185V|IQSEC3_uc001qht.1_Silent_p.V270V|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 488 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCGGGACGTCACGGTGCAGA 0.587 NA 5 19 0 0 0 0 CACNA1C 775 broad.mit.edu 37 12 2659197 2659197 + Silent SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:2659197G>T uc009zdu.1 + 10 1792 c.1479G>T c.(1477-1479)CTG>CTT p.L493L CACNA1C_uc009zdv.1_Silent_p.L490L|CACNA1C_uc001qkb.2_Silent_p.L493L|CACNA1C_uc001qkc.2_Silent_p.L493L|CACNA1C_uc001qke.2_Silent_p.L493L|CACNA1C_uc001qkf.2_Silent_p.L493L|CACNA1C_uc001qjz.2_Silent_p.L493L|CACNA1C_uc001qkd.2_Silent_p.L493L|CACNA1C_uc001qkg.2_Silent_p.L493L|CACNA1C_uc009zdw.1_Silent_p.L493L|CACNA1C_uc001qkh.2_Silent_p.L493L|CACNA1C_uc001qkl.2_Silent_p.L493L|CACNA1C_uc001qkn.2_Silent_p.L493L|CACNA1C_uc001qko.2_Silent_p.L493L|CACNA1C_uc001qkp.2_Silent_p.L493L|CACNA1C_uc001qkr.2_Silent_p.L493L|CACNA1C_uc001qku.2_Silent_p.L493L|CACNA1C_uc001qkq.2_Silent_p.L493L|CACNA1C_uc001qks.2_Silent_p.L493L|CACNA1C_uc001qkt.2_Silent_p.L493L|CACNA1C_uc001qka.1_Silent_p.L28L|CACNA1C_uc001qki.1_Silent_p.L229L|CACNA1C_uc001qkj.1_Silent_p.L229L|CACNA1C_uc001qkk.1_Silent_p.L229L|CACNA1C_uc001qkm.1_Silent_p.L229L|CACNA1C_uc009zdy.1_Silent_p.L118L|CACNA1C_uc001qkv.1_Silent_p.L63L NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 493 Cytoplasmic (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) GGGCCAGGCTGGCGTGAGTAG 0.592 NA 9 10 4.69e-08 5.07e-08 1 0 SLC2A3 6515 broad.mit.edu 37 12 8075605 8075605 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:8075605T>A uc001qtr.2 - 9 1346 c.1084A>T c.(1084-1086)ATG>TTG p.M362L NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 362 Extracellular (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) ACAAAGCTCATCCCATTATAG 0.423 NA 8 40 0 0 0 0 SENP1 29843 broad.mit.edu 37 12 48457609 48457609 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:48457609T>A uc001rqx.2 - 13 1737 c.1291A>T c.(1291-1293)ATA>TTA p.I431L SENP1_uc001rqw.2_Missense_Mutation_p.I431L|SENP1_uc001rqy.2_Missense_Mutation_p.I232L|SENP1_uc001rqz.2_Missense_Mutation_p.I232L|SENP1_uc009zkx.2_Missense_Mutation_p.I431L NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN sentrin/SUMO-specific protease 1 431 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity pancreas(2)|lung(1) 3 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) ACATTCTTTATTTCTTTCTCC 0.383 NA 10 22 0 0 0 0 STAC3 246329 broad.mit.edu 37 12 57640593 57640593 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:57640593C>G uc001snp.2 - 6 792 c.597G>C c.(595-597)AAG>AAC p.K199N STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.K160N|STAC3_uc010srm.1_Missense_Mutation_p.K13N NM_145064 NP_659501 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 199 intracellular signal transduction identical protein binding|metal ion binding ovary(2)|skin(1) 3 TCACATTTTTCTTATCTGCCT 0.498 NA 23 325 0 0 0 0 HELB 92797 broad.mit.edu 37 12 66696407 66696408 + Missense_Mutation DNP GC GC TT TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr12:66696407_66696408GC>TT uc001sti.2 + 1 52_53 c.24_25GC>TT c.(22-27)CTGCGC>CTTTGC p.R9C HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 9 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GTCCGTACCTGCGCCAACTTCA 0.55 NA 17 91 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 36129126 36129126 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr13:36129126G>A uc001uvb.2 + 44 7015 c.6809G>A c.(6808-6810)AGG>AAG p.R2270K NBEA_uc010abi.2_Missense_Mutation_p.R926K|NBEA_uc010tee.1_Missense_Mutation_p.R63K|NBEA_uc010tef.1_Missense_Mutation_p.R63K|NBEA_uc010teg.1_Missense_Mutation_p.R63K NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2270 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATTGCTAGGAGGATATCATTG 0.318 NA 6 45 0 0 0 0 CCDC70 83446 broad.mit.edu 37 13 52439668 52439668 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr13:52439668C>T uc001vfu.3 + 2 450 c.154C>T c.(154-156)CGC>TGC p.R52C uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 52 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) AAAGGCTTTTCGCGAAGAGAT 0.517 NA 26 173 0 0 0 0 NEK5 341676 broad.mit.edu 37 13 52660423 52660423 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr13:52660423C>G uc001vge.2 - 16 1609 c.1469G>C c.(1468-1470)AGA>ACA p.R490T NM_199289 NP_954983 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 490 ATP binding|metal ion binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1) 1 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) CTCTGGTTCTCTCCCCATCTT 0.363 NA 17 215 0 0 0 0 PCDH17 27253 broad.mit.edu 37 13 58207106 58207106 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr13:58207106G>A uc001vhq.1 + 1 1318 c.426G>A c.(424-426)TCG>TCA p.S142S PCDH17_uc010aec.1_Silent_p.S142S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 142 Extracellular (Potential).|Cadherin 2. 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) TGGACATCTCGGAGAACGCTG 0.617 NA 21 24 0 0 0 0 EFS 10278 broad.mit.edu 37 14 23826643 23826643 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr14:23826643C>T uc001wjo.2 - 6 2086 c.1478G>A c.(1477-1479)CGG>CAG p.R493Q EFS_uc001wjp.2_Missense_Mutation_p.R400Q|EFS_uc010tnm.1_Missense_Mutation_p.R324Q NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 493 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GGCTGCCAGCCGGCCCAGGGT 0.657 NA 19 42 0 0 0 0 AKAP6 9472 broad.mit.edu 37 14 33147632 33147632 + Missense_Mutation SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr14:33147632A>T uc001wrq.2 + 8 3016 c.2846A>T c.(2845-2847)GAT>GTT p.D949V AKAP6_uc010aml.2_Missense_Mutation_p.D946V NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 949 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGTTTGCTGATATGTCAAAA 0.413 NA 36 105 0 0 0 0 FRMD6 122786 broad.mit.edu 37 14 52194513 52194513 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr14:52194513C>T uc001wzd.2 + 14 1920 c.1635C>T c.(1633-1635)CTC>CTT p.L545L FRMD6_uc001wzb.2_Silent_p.L537L|FRMD6_uc001wzc.2_Silent_p.L537L|FRMD6_uc001wze.2_Silent_p.L468L|FRMD6_uc001wzf.2_Silent_p.L238L|FRMD6_uc001wzg.2_Silent_p.L187L NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 545 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GCTTGAGCCTCGATGACATCA 0.453 NA 10 148 0 0 0 0 PIF1 80119 broad.mit.edu 37 15 65114583 65114583 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:65114583C>T uc002ant.2 - 4 765 c.699G>A c.(697-699)GGG>GGA p.G233G PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.G233G|PIF1_uc002anu.2_Missense_Mutation_p.G262E NM_025049 NP_079325 Q9H611 PIF1_HUMAN DNA helicase homolog PIF1 233 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.|ATP (Potential). negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding 0 GATATGACTTCCCTGTTCCTG 0.617 NA 38 72 0 0 0 0 UACA 55075 broad.mit.edu 37 15 70960340 70960340 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:70960340G>C uc002asr.2 - 16 2787 c.2683C>G c.(2683-2685)CAG>GAG p.Q895E UACA_uc010uke.1_Missense_Mutation_p.Q786E|UACA_uc002asq.2_Missense_Mutation_p.Q882E|UACA_uc010bin.1_Missense_Mutation_p.Q870E NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 895 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 ACAAATTCCTGATTTATATCT 0.308 NA 11 33 0 0 0 0 SEMA7A 8482 broad.mit.edu 37 15 74707066 74707066 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:74707066C>T uc002axv.2 - 10 1156 c.1116G>A c.(1114-1116)CCG>CCA p.P372P SEMA7A_uc010ulk.1_Silent_p.P207P|SEMA7A_uc010ull.1_Silent_p.P358P NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 372 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 CTGTGGGTATCGGCTGCTGGT 0.652 NA 42 117 0 0 0 0 CTSH 1512 broad.mit.edu 37 15 79231500 79231500 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:79231500G>A uc002ben.2 - 3 166 c.69C>T c.(67-69)TTC>TTT p.F23F CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Intron|CTSH_uc010ung.1_Silent_p.F35F NM_148979 NP_683880 P09668 CATH_HUMAN cathepsin H isoform b precursor 35 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(2)|large_intestine(1) 3 TCCATGACTTGAAGTGAAACT 0.368 NA 9 60 0 0 0 0 KIAA1199 57214 broad.mit.edu 37 15 81224351 81224351 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:81224351G>A uc002bfw.1 + 21 3024 c.2764G>A c.(2764-2766)GTG>ATG p.V922M KIAA1199_uc010unn.1_Missense_Mutation_p.V922M NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 922 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCATAACAACGTGACCGGCAT 0.602 NA 52 217 0 0 0 0 PEX11A 8800 broad.mit.edu 37 15 90229778 90229778 + Splice_Site SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr15:90229778C>G uc002boi.2 - 2 152 c.57_splice c.e2-1 p.R19_splice PEX11A_uc010upy.1_Intron NM_003847 NP_003838 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane 0 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) CTGAGTGGCTCTGAAATGGAA 0.378 NA 15 169 0 0 0 0 TUFM 7284 broad.mit.edu 37 16 28856350 28856350 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr16:28856350G>A uc002drh.2 - 4 580 c.441C>T c.(439-441)CTC>CTT p.L147L uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 144 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 TGCAGCCGTCGAGGGGTGCAG 0.542 NA 18 85 0 0 0 0 NLRC5 84166 broad.mit.edu 37 16 57088721 57088721 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr16:57088721C>T uc002ekk.1 + 25 3790 c.3565C>T c.(3565-3567)CTG>TTG p.L1189L NLRC5_uc002ekn.2_Silent_p.L908L|NLRC5_uc002ekl.2_Silent_p.L994L|NLRC5_uc002ekm.2_Silent_p.L964L|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Silent_p.L105L|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.L105L NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1189 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) CACCTTAAGCCTGTGTCCACG 0.577 NA 99 297 0 0 0 0 ZNF319 57567 broad.mit.edu 37 16 58030907 58030907 + Silent SNP G G A rs150126886 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr16:58030907G>A uc002emx.1 - 2 1886 c.1263C>T c.(1261-1263)CCC>CCT p.P421P NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 421 C2H2-type 11; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGGCCGCGCCGGGCAGGCACT 0.662 NA 7 55 0 0 0 0 DDX19A 55308 broad.mit.edu 37 16 70398481 70398481 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr16:70398481C>A uc002eyv.2 + 6 493 c.422C>A c.(421-423)ACT>AAT p.T141N DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.T142N|DDX19A_uc010cfq.1_Intron|DDX19A_uc010cfr.2_Translation_Start_Site|DDX19A_uc010cfs.2_Translation_Start_Site|DDX19A_uc010vlz.1_Missense_Mutation_p.T110N|DDX19A_uc010vma.1_Missense_Mutation_p.T51N NM_018332 NP_060802 Q9NUU7 DD19A_HUMAN DDX19-like protein 141 ATP (By similarity).|Helicase ATP-binding. mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) CAGTCTGGCACTGGTAAAACA 0.498 NA 3 81 0.00909568 0.00929129 1 0 PHLPP2 23035 broad.mit.edu 37 16 71710374 71710374 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr16:71710374G>A uc002fax.2 - 8 1453 c.1447C>T c.(1447-1449)CGG>TGG p.R483W PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Missense_Mutation_p.R483W NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 483 LRR 11. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 TAGAGGGTCCGAAGGGAAAAG 0.502 NA 7 51 0 0 0 0 SMG6 23293 broad.mit.edu 37 17 2203496 2203496 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:2203496C>T uc002fub.1 - 2 606 c.551G>A c.(550-552)GGA>GAA p.G184E SMG6_uc002fud.1_Missense_Mutation_p.G153E NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 184 Interaction with telomeric DNA.|Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CGCAACATTTCCCCTACACTC 0.502 NA 131 582 0 0 0 0 OR1G1 8390 broad.mit.edu 37 17 3030782 3030782 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:3030782C>T uc002fvc.1 - 1 64 c.64G>A c.(64-66)GAG>AAG p.E22K NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTCTGCTCCTCCAGCTGCTCA 0.493 NA 12 112 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:7578394T>C uc002gim.2 - 5 730 c.536A>G c.(535-537)CAT>CGT p.H179R TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (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.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642 111 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) 21 53 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578461 7578461 + Missense_Mutation SNP C C A rs121912654 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:7578461C>A uc002gim.2 - 5 663 c.469G>T c.(469-471)GTC>TTC p.V157F TP53_uc002gig.1_Missense_Mutation_p.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 157 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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) ATGGCGCGGACGCGGGTGCCG 0.617 111 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) 22 63 2.71e-06 2.89e-06 1 0 WRAP53 55135 broad.mit.edu 37 17 7604804 7604804 + Silent SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:7604804G>T uc010vuh.1 + 6 914 c.759G>T c.(757-759)CCG>CCT p.P253P WRAP53_uc010vui.1_Silent_p.P253P|WRAP53_uc002gip.2_Silent_p.P253P|WRAP53_uc002gir.2_Silent_p.P253P|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.P220P|WRAP53_uc010vuj.1_Silent_p.P34P NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 253 WD 2. positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 GGGAGAACCCGATTCATATCT 0.537 NA 40 119 3.43e-17 3.94e-17 1 0 PER1 5187 broad.mit.edu 37 17 8049769 8049769 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:8049769G>A uc002gkd.2 - 16 2197 c.1959C>T c.(1957-1959)TCC>TCT p.S653S PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.S637S NM_002616 NP_002607 O15534 PER1_HUMAN period 1 653 Poly-Ser.|CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 AGGAGGAGGAGGAGGCACATT 0.587 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 41 126 0 0 0 0 C17orf76 388341 broad.mit.edu 37 17 16347302 16347302 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:16347302G>T uc010cph.1 - 4 811 c.635C>A c.(634-636)ACA>AAA p.T212K C17orf76_uc002gqh.2_Missense_Mutation_p.H173Q|NCRNA00188_uc010vwl.1_Intron|NCRNA00188_uc010vwm.1_Intron|NCRNA00188_uc010vwn.1_Intron|NCRNA00188_uc010cpe.2_Intron|NCRNA00188_uc010vwo.1_Intron|NCRNA00188_uc010vwp.1_Intron|C17orf76_uc002gqg.1_3'UTR NM_001113567 NP_001107039 Q8NAA5 CQ076_HUMAN hypothetical protein LOC388341 isoform 1 212 LRR 1. 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0887) CGTGAGGCCTGTGAAGCCCAG 0.657 NA 18 55 5.01e-05 5.3e-05 1 0 KRTAP4-5 85289 broad.mit.edu 37 17 39305733 39305733 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:39305733C>A uc002hwb.2 - 1 322 c.287G>T c.(286-288)TGC>TTC p.C96F NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 101 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|17. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gctggggcagcagcaggtggt 0.124 NA 14 39 2.35e-11 2.64e-11 1 0 SLC4A1 6521 broad.mit.edu 37 17 42335957 42335957 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:42335957C>G uc002igf.3 - 10 1060 c.911G>C c.(910-912)CGA>CCA p.R304P SLC4A1_uc002igg.3_Missense_Mutation_p.R304P NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 304 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CAGCTCCCCTCGGCTCTGAGC 0.647 NA 5 27 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78321813 78321813 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr17:78321813C>T uc002jyh.1 + 4 4120 c.3897C>T c.(3895-3897)TGC>TGT p.C1299C NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGGACGCCTGCGCGTCTGTGG 0.562 NA 6 30 0 0 0 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr18:14513734C>T uc010dln.2 - 10 1914 c.1460G>A c.(1459-1461)GGA>GAA p.G487E POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 487 skin(3) 3 TTGTGATATTCCAGTGTTCTG 0.323 NA 5 109 0 0 0 0 ROCK1 6093 broad.mit.edu 37 18 18534783 18534783 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr18:18534783G>T uc002kte.2 - 31 4755 c.3814C>A c.(3814-3816)CAC>AAC p.H1272N NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1272 PH.|Auto-inhibitory.|Phorbol-ester/DAG-type. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) TTATCTAAGTGATCTCTGTGG 0.393 NA 11 195 1.15e-07 1.24e-07 1 0 CCDC102B 79839 broad.mit.edu 37 18 66541993 66541993 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr18:66541993G>A uc002lkk.2 + 7 1247 c.1024G>A c.(1024-1026)GAC>AAC p.D342N CCDC102B_uc002lki.2_Missense_Mutation_p.D342N|CCDC102B_uc002lkj.1_Missense_Mutation_p.D342N NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 342 ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AAACAGCAAAGACAGAGTGAT 0.333 NA 9 87 0 0 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564499 66564499 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr18:66564499G>T uc002lkk.2 + 8 1320 c.1097G>T c.(1096-1098)AGG>ATG p.R366M CCDC102B_uc002lki.2_Missense_Mutation_p.R366M|CCDC102B_uc002lkj.1_Missense_Mutation_p.R366M NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 366 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TGGGACAAGAGGGAAATACTT 0.403 NA 24 105 1.66e-10 1.84e-10 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999255 72999255 + Silent SNP G G A rs145239521 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr18:72999255G>A uc002lly.2 + 2 2321 c.1758G>A c.(1756-1758)CCG>CCA p.P586P NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 631 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGCCCCCACCGCACAAGAGCA 0.632 NA 3 60 0 0 0 0 ISYNA1 51477 broad.mit.edu 37 19 18546863 18546863 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:18546863G>T uc002njd.1 - 7 1004 c.954C>A c.(952-954)TTC>TTA p.F318L ISYNA1_uc002nja.1_Missense_Mutation_p.F190L|ISYNA1_uc002njb.1_Missense_Mutation_p.F236L|ISYNA1_uc002njc.1_Missense_Mutation_p.F168L|ISYNA1_uc010xqh.1_Missense_Mutation_p.F116L|ISYNA1_uc002nje.1_Missense_Mutation_p.F264L|ISYNA1_uc002njf.1_Missense_Mutation_p.F168L NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 318 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 AGCCAATGAGGAAGTCCACAA 0.652 NA 12 35 7.04e-09 7.63e-09 1 0 ZNF708 7562 broad.mit.edu 37 19 21476477 21476477 + Missense_Mutation SNP T T C rs149009596 TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:21476477T>C uc002npq.1 - 4 1489 c.1291A>G c.(1291-1293)ATA>GTA p.I431V ZNF708_uc002npr.1_Missense_Mutation_p.I367V|ZNF708_uc010ecs.1_Missense_Mutation_p.I367V NM_021269 NP_067092 P17019 ZN708_HUMAN zinc finger protein 708 431 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(4)|skin(2) 6 ATTGAGAATATACTAAAGGCT 0.328 NA 20 70 0 0 0 0 ZBTB32 27033 broad.mit.edu 37 19 36207617 36207617 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:36207617C>T uc002oay.2 + 6 1637 c.1427C>T c.(1426-1428)TCG>TTG p.S476L ZBTB32_uc002oaz.2_RNA|MLL4_uc010eei.2_5'Flank NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 476 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCTCGGCCCTCGACCTCTCCC 0.632 NA OREG0025433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 158 0 0 0 0 ZFP82 284406 broad.mit.edu 37 19 36883703 36883703 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:36883703C>T uc002ody.1 - 5 1774 c.1539G>A c.(1537-1539)AAG>AAA p.K513K NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 513 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GCCTAAAGGCCTTCTTACATT 0.338 NA 19 79 0 0 0 0 HKR1 284459 broad.mit.edu 37 19 37853704 37853704 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:37853704G>A uc002ogb.2 + 6 1276 c.1007G>A c.(1006-1008)CGA>CAA p.R336Q HKR1_uc002ofx.2_Missense_Mutation_p.R52Q|HKR1_uc002ofy.2_Missense_Mutation_p.R52Q|HKR1_uc002oga.2_Missense_Mutation_p.R318Q|HKR1_uc010xto.1_Missense_Mutation_p.R318Q|HKR1_uc002ogc.2_Missense_Mutation_p.R317Q|HKR1_uc010xtp.1_Missense_Mutation_p.R275Q|HKR1_uc002ogd.2_Missense_Mutation_p.R275Q NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 336 C2H2-type 2. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATTGTGGACGAGGCTTTACT 0.507 NA 14 118 0 0 0 0 HNRNPL 3191 broad.mit.edu 37 19 39340525 39340525 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:39340525G>C uc010xul.1 - 1 93 c.82C>G c.(82-84)CGG>GGG p.R28G HNRNPL_uc010xum.1_Intron NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 28 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GCTCCCGACCGCCTCCGCTGC 0.512 NA 3 1 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40357679 40357679 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:40357679C>G uc002omp.3 - 34 15642 c.15634G>C c.(15634-15636)GGC>CGC p.G5212R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5212 Cys-rich. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGTGGGCAGCCAGCTGCCTGG 0.622 NA 19 72 0 0 0 0 GIPR 2696 broad.mit.edu 37 19 46185005 46185005 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:46185005C>G uc002pcu.1 + 14 1312 c.1213C>G c.(1213-1215)CGT>GGT p.R405G GIPR_uc002pct.1_3'UTR|GIPR_uc010xxp.1_Missense_Mutation_p.R369G|GIPR_uc010xxq.1_RNA NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 405 Cytoplasmic (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) GGAGATCCGCCGTGGCTGGCA 0.776 NA 7 7 0 0 0 0 DMPK 1760 broad.mit.edu 37 19 46281829 46281829 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:46281829G>A uc002pdd.1 - 4 1077 c.533C>T c.(532-534)CCG>CTG p.P178L DMPK_uc010xxs.1_Missense_Mutation_p.P79L|DMPK_uc002pde.1_Missense_Mutation_p.P178L|DMPK_uc002pdf.1_Missense_Mutation_p.P168L|DMPK_uc002pdg.1_Missense_Mutation_p.P168L|DMPK_uc002pdh.1_Missense_Mutation_p.P168L|DMPK_uc002pdi.1_Missense_Mutation_p.P194L|DMPK_uc010xxt.1_Missense_Mutation_p.P168L|DMPK_uc010xxu.1_3'UTR NM_001081563 NP_001075032 Q09013 DMPK_HUMAN myotonic dystrophy protein kinase isoform 1 178 Protein kinase. regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3) 3 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) CATCTCGGCCGGAATCCGCTC 0.612 NA 3 66 0 0 0 0 ZNF264 9422 broad.mit.edu 37 19 57724189 57724189 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:57724189C>A uc002qob.2 + 4 2137 c.1724C>A c.(1723-1725)CCT>CAT p.P575H NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GTGGGAAGACCTTTTACAAGT 0.443 NA 32 129 1.63e-12 1.84e-12 1 0 ZNF547 284306 broad.mit.edu 37 19 57889289 57889289 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:57889289G>C uc002qol.2 + 4 1138 c.945G>C c.(943-945)CAG>CAC p.Q315H ZNF547_uc002qpm.3_Missense_Mutation_p.Q241H|ZNF547_uc010ygx.1_Missense_Mutation_p.Q315H NM_173631 NP_775902 Q8IVP9 ZN547_HUMAN zinc finger protein 547 315 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTAGACATCAGAGAGTTCACA 0.413 NA 17 142 0 0 0 0 ZNF544 27300 broad.mit.edu 37 19 58772562 58772562 + Missense_Mutation SNP A A G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr19:58772562A>G uc010euo.2 + 7 1064 c.590A>G c.(589-591)AAT>AGT p.N197S ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.N169S|ZNF544_uc010yhy.1_Missense_Mutation_p.N169S|ZNF544_uc002qrt.3_Missense_Mutation_p.N55S|ZNF544_uc002qru.3_Missense_Mutation_p.N55S|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TTGAAACAAAATTCAGCTTTC 0.383 NA 17 88 0 0 0 0 DNMT3A 1788 broad.mit.edu 37 2 25468890 25468890 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:25468890C>G uc002rgc.2 - 12 1730 c.1473G>C c.(1471-1473)GAG>GAC p.E491D DNMT3A_uc002rgd.2_Missense_Mutation_p.E491D|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.E302D NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 491 ADD. 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) CAAACTTACCCTCAATGTTCC 0.607 NA Mis|F|N|S AML 11 79 0 0 0 0 FAM179A 165186 broad.mit.edu 37 2 29249763 29249763 + Nonsense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:29249763C>G uc010ezl.2 + 14 2249 c.1898C>G c.(1897-1899)TCA>TGA p.S633* FAM179A_uc010ymm.1_Nonsense_Mutation_p.S578*|FAM179A_uc002rmr.3_Nonsense_Mutation_p.S160* NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 633 binding ovary(3)|skin(1) 4 GAGCACCTCTCAGCTGTGCTG 0.597 NA 4 10 0 0 0 0 BIRC6 57448 broad.mit.edu 37 2 32664671 32664671 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:32664671G>T uc010ezu.2 + 16 3861 c.3727G>T c.(3727-3729)GTA>TTA p.V1243L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1243 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TATGCGTCCTGTAGTAAGGCT 0.413 NA 3 65 0.00909568 0.00929129 1 0 CYP26B1 56603 broad.mit.edu 37 2 72361996 72361996 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:72361996C>T uc002sih.1 - 4 755 c.755G>A c.(754-756)CGG>CAG p.R252Q CYP26B1_uc010yra.1_Missense_Mutation_p.R235Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R177Q NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 252 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 CAGCTTCTCCCGGATGGCCTT 0.602 NA 18 70 0 0 0 0 GPAT2 150763 broad.mit.edu 37 2 96690176 96690176 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:96690176G>A uc002svf.2 - 15 1891 c.1668C>T c.(1666-1668)GGC>GGT p.G556G GPAT2_uc002svd.2_Silent_p.G375G|GPAT2_uc002sve.2_Silent_p.G358G|GPAT2_uc002svg.2_Silent_p.G435G|GPAT2_uc010yuh.1_Silent_p.G485G|GPAT2_uc002svh.2_Silent_p.G556G NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 556 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 AAGACTCACCGCCCACAGCCT 0.632 NA 9 61 0 0 0 0 NCK2 8440 broad.mit.edu 37 2 106497993 106497993 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:106497993G>A uc002tdg.2 + 4 878 c.436G>A c.(436-438)GAC>AAC p.D146N NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.D146N NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 146 SH3 2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GAAGTGCAGCGACGGTTGGTG 0.637 NA 23 40 0 0 0 0 GCC2 9648 broad.mit.edu 37 2 109085540 109085540 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:109085540G>C uc002tec.2 + 5 475 c.321G>C c.(319-321)GAG>GAC p.E107D GCC2_uc002ted.2_Missense_Mutation_p.E6D NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 107 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAGAGGTTGAGGTAAGTCAAT 0.303 NA 19 97 0 0 0 0 IL1F9 56300 broad.mit.edu 37 2 113737637 113737637 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:113737637G>C uc002tio.1 + 4 281 c.212G>C c.(211-213)AGA>ACA p.R71T IL1F9_uc010fkr.1_Missense_Mutation_p.R36T NM_019618 NP_062564 Q9NZH8 IL36G_HUMAN interleukin 1 family, member 9 71 cell-cell signaling extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 GAGCAAGGCAGAGGGGATCCC 0.423 NA 13 93 0 0 0 0 BIN1 274 broad.mit.edu 37 2 127821184 127821184 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:127821184G>A uc002tns.1 - 9 1082 c.737C>T c.(736-738)GCG>GTG p.A246V BIN1_uc010yzf.1_Missense_Mutation_p.A191V|BIN1_uc010yzg.1_Missense_Mutation_p.A246V|BIN1_uc002tnu.1_Missense_Mutation_p.A215V|BIN1_uc002toa.1_Missense_Mutation_p.A215V|BIN1_uc002tnt.1_Missense_Mutation_p.A215V|BIN1_uc002tnv.1_Missense_Mutation_p.A246V|BIN1_uc002tnw.1_Missense_Mutation_p.A215V|BIN1_uc002tnx.1_Missense_Mutation_p.A215V|BIN1_uc002tny.1_Missense_Mutation_p.A246V|BIN1_uc002tnz.1_Missense_Mutation_p.A215V|BIN1_uc002tob.1_Missense_Mutation_p.A215V|BIN1_uc002toc.1_Missense_Mutation_p.A215V NM_139343 NP_647593 O00499 BIN1_HUMAN bridging integrator 1 isoform 1 246 BAR.|Potential. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus ovary(2)|central_nervous_system(2)|skin(2)|lung(1) 7 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CTCCAGGCCCGCGATGCTCTG 0.602 NA 9 28 0 0 0 0 AMMECR1L 83607 broad.mit.edu 37 2 128631411 128631411 + Missense_Mutation SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:128631411T>C uc002tpl.2 - 3 649 c.398A>G c.(397-399)AAT>AGT p.N133S AMMECR1L_uc002tpm.2_Missense_Mutation_p.N133S NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN AMME chromosomal region gene 1-like 133 AMMECR1. central_nervous_system(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) CTAGGGGTCATTGGTGAATCT 0.507 NA 21 264 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141533692 141533692 + Silent SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:141533692T>C uc002tvj.1 - 33 6447 c.5475A>G c.(5473-5475)AAA>AAG p.K1825K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1825 Extracellular (Potential).|LDL-receptor class B 18. 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) TATCATAGACTTTCATATGAA 0.418 NA TSP Lung(27;0.18) 42 108 0 0 0 0 SP5 389058 broad.mit.edu 37 2 171573747 171573747 + Nonsense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:171573747C>T uc002uge.2 + 2 1196 c.1030C>T c.(1030-1032)CAG>TAG p.Q344* NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Sp5 transcription factor 344 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGACGAGCTGCAGCGGCACCT 0.667 NA 6 22 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179411014 179411014 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:179411014C>G uc010zfg.1 - 291 87564 c.87340G>C c.(87340-87342)GAC>CAC p.D29114H uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D22809H|TTN_uc010zfi.1_Missense_Mutation_p.D22742H|TTN_uc010zfj.1_Missense_Mutation_p.D22617H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30041 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) TTTCCACTGTCACTTCTGTCA 0.448 NA 62 234 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179442069 179442069 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:179442069G>A uc010zfg.1 - 273 61513 c.61289C>T c.(61288-61290)TCA>TTA p.S20430L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S14125L|TTN_uc010zfi.1_Missense_Mutation_p.S14058L|TTN_uc010zfj.1_Missense_Mutation_p.S13933L|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21357 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) TGTTGGGGTTGAAGTTATCTG 0.423 NA 5 76 0 0 0 0 ERBB4 2066 broad.mit.edu 37 2 212589879 212589879 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:212589879G>A uc002veg.1 - 6 761 c.663C>T c.(661-663)TGC>TGT p.C221C ERBB4_uc002veh.1_Silent_p.C221C|ERBB4_uc010zji.1_Silent_p.C221C|ERBB4_uc010zjj.1_Silent_p.C221C|ERBB4_uc010fut.1_Silent_p.C221C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 221 Cys-rich.|Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AAGGTCCGTAGCATCTGCCGT 0.498 NA TSP Lung(8;0.080) 30 114 0 0 0 0 FAM124B 79843 broad.mit.edu 37 2 225266461 225266461 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:225266461C>T uc002vnx.2 - 1 251 c.25G>A c.(25-27)GCC>ACC p.A9T FAM124B_uc002vnw.2_Missense_Mutation_p.A9T NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN hypothetical protein LOC79843 isoform a 9 protein binding ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) ACAGTCATGGCCAGAGGCCCC 0.542 NA 17 63 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228153932 228153933 + Missense_Mutation DNP TC TC AG TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:228153932_228153933TC>AG uc002vom.1 + 35 3110_3111 c.2948_2949TC>AG c.(2947-2949)CTC>CAG p.L983Q COL4A3_uc002von.1_Missense_Mutation_p.L983Q|COL4A3_uc002voo.1_Missense_Mutation_p.L983Q|COL4A3_uc002vop.1_Missense_Mutation_p.L983Q|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 983 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TTAAAGGGCCTCAAAGGACTAC 0.416 NA 3 36 0 0 0 0 SEPT2 4735 broad.mit.edu 37 2 242277151 242277151 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:242277151C>T uc002wbc.2 + 8 961 c.540C>T c.(538-540)GTC>GTT p.V180V SEPT2_uc002wbd.2_Silent_p.V180V|SEPT2_uc002wbf.2_Silent_p.V180V|SEPT2_uc002wbg.2_Silent_p.V180V|SEPT2_uc002wbh.2_Silent_p.V190V|SEPT2_uc010zop.1_Silent_p.V215V NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 180 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) TTGTGCCTGTCATTGCAAAAG 0.463 NA 25 120 0 0 0 0 RBCK1 10616 broad.mit.edu 37 20 398254 398254 + Silent SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr20:398254C>G uc002wdp.3 + 3 945 c.252C>G c.(250-252)CTC>CTG p.L84L RBCK1_uc010zpl.1_Silent_p.L84L|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.L42L|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 84 Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) TGGCGTCTCTCAAGGACATGG 0.443 NA 4 73 0 0 0 0 RNF160 26046 broad.mit.edu 37 21 30339459 30339459 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr21:30339459G>T uc002ymr.2 - 10 1505 c.1492C>A c.(1492-1494)CAA>AAA p.Q498K RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 452 ligase activity|zinc ion binding 0 TGCCCATGTTGCAATCCTGGG 0.323 NA 23 93 2.32e-17 2.67e-17 1 0 GCFC1 94104 broad.mit.edu 37 21 34123488 34123488 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr21:34123488C>A uc002yqn.2 - 9 1739 c.1549G>T c.(1549-1551)GAT>TAT p.D517Y GCFC1_uc002yql.2_Missense_Mutation_p.D26Y|GCFC1_uc002yqm.2_Missense_Mutation_p.D11Y|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D517Y NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 517 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 AGTGCCCGATCGCGTCCAAAG 0.463 NA 35 113 3.76e-14 4.27e-14 1 0 ZDHHC8 29801 broad.mit.edu 37 22 20127356 20127356 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:20127356C>T uc002zrq.2 + 4 604 c.498C>T c.(496-498)TTC>TTT p.F166F ZDHHC8_uc002zrr.1_Silent_p.F166F|ZDHHC8_uc010gsa.2_Intron NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 166 Helical; (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) TCGTGGCCTTCGGCCTGGTCT 0.602 NA 10 67 0 0 0 0 SMARCB1 6598 broad.mit.edu 37 22 24135759 24135759 + Silent SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:24135759G>T uc002zyb.2 + 3 453 c.246G>T c.(244-246)ACG>ACT p.T82T SMARCB1_uc002zyg.2_Silent_p.T82T|SMARCB1_uc011ajb.1_Silent_p.T73T|SMARCB1_uc002zya.2_Silent_p.T82T|SMARCB1_uc002zyc.2_Silent_p.T73T|SMARCB1_uc002zyd.2_Silent_p.T73T|SMARCB1_uc002zye.1_Silent_p.T45T|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 82 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) ACGGATACACGACTCTAGCCA 0.532 NA D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis 53 179 1.46e-29 1.69e-29 1 0 CRYBA4 1413 broad.mit.edu 37 22 27024279 27024279 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:27024279T>A uc003acz.3 + 5 363 c.328T>A c.(328-330)TTC>ATC p.F110I NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 110 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 GCTGACAATCTTCGAGCAAGA 0.562 NA 4 85 0 0 0 0 ELFN2 114794 broad.mit.edu 37 22 37770534 37770534 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:37770534C>T uc003asq.3 - 3 1827 c.1041G>A c.(1039-1041)ACG>ACA p.T347T NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 347 Fibronectin type-III.|Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GTTTGTCCAGCGTCACGATCT 0.572 NA 53 141 0 0 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41623203 41623203 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:41623203C>T uc003azo.2 + 14 1752 c.1698C>T c.(1696-1698)CTC>CTT p.L566L L3MBTL2_uc010gyi.1_Silent_p.L475L|L3MBTL2_uc003azn.2_RNA NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 566 MBT 4. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 ATCGGCTCCTCAGCATCCACT 0.627 NA 3 28 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39227663 39227663 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:39227663C>A uc003cjk.1 - 2 3495 c.3274G>T c.(3274-3276)GGT>TGT p.G1092C XIRP1_uc003cji.2_Missense_Mutation_p.G1092C|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1092 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) TTCCGAAGACCGTCCTGGATG 0.602 NA 15 86 1.03e-11 1.16e-11 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806283 97806283 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:97806283C>T uc011bgs.1 + 1 267 c.267C>T c.(265-267)GAC>GAT p.D89D NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATTTCTTAGACAAGACTGCAA 0.428 NA 58 354 0 0 0 0 ITGB5 3693 broad.mit.edu 37 3 124515329 124515329 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:124515329G>A uc003eho.2 - 10 1896 c.1599C>T c.(1597-1599)TGC>TGT p.C533C ITGB5_uc010hrx.2_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 533 Extracellular (Potential).|II.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) CGAAGCAGGAGCACTGGTTGC 0.597 NA 36 133 0 0 0 0 C3orf37 56941 broad.mit.edu 37 3 129020915 129020915 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:129020915C>G uc003elt.2 + 6 846 c.758C>G c.(757-759)TCT>TGT p.S253C C3orf37_uc003elu.2_Missense_Mutation_p.S211C|C3orf37_uc003elv.2_Missense_Mutation_p.S253C|C3orf37_uc003elw.2_Missense_Mutation_p.S253C NM_020187 NP_064572 Q96FZ2 CC037_HUMAN hypothetical protein LOC56941 253 ovary(1) 1 CATGCAGTCTCTTCTGTGGTG 0.483 NA 15 205 0 0 0 0 TRIM42 287015 broad.mit.edu 37 3 140406816 140406816 + Missense_Mutation SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:140406816A>T uc003eto.1 + 3 1483 c.1292A>T c.(1291-1293)AAG>ATG p.K431M NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 431 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GCCTACTCCAAGGAAGCCCTG 0.502 NA 7 75 0 0 0 0 ZIC4 84107 broad.mit.edu 37 3 147108849 147108849 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:147108849C>T uc003ewd.1 - 4 1146 c.873G>A c.(871-873)TCG>TCA p.S291S ZIC4_uc003ewc.1_Silent_p.S221S|ZIC4_uc011bno.1_Silent_p.S341S NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 291 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TGGGCGGCGGCGAGCGCCCGT 0.672 NA 14 55 0 0 0 0 MED12L 116931 broad.mit.edu 37 3 151105633 151105633 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:151105633G>A uc003eyp.2 + 35 5057 c.5019G>A c.(5017-5019)CCG>CCA p.P1673P MED12L_uc011bnz.1_Silent_p.P1533P|MED12L_uc003eyy.1_Silent_p.P836P NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1673 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGGTGTCCCCGTGGGACTTGT 0.532 NA 15 119 0 0 0 0 PSMD2 5708 broad.mit.edu 37 3 184018206 184018206 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:184018206G>C uc003fnn.1 + 3 364 c.331G>C c.(331-333)GAG>CAG p.E111Q PSMD2_uc011brj.1_5'Flank|PSMD2_uc011brk.1_5'Flank NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 111 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) GGAAATCTATGAGAACATGGC 0.458 NA 12 117 0 0 0 0 IL1RAP 3556 broad.mit.edu 37 3 190362143 190362143 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:190362143C>T uc003fsm.1 + 10 1364 c.1158C>T c.(1156-1158)GTC>GTT p.V386V IL1RAP_uc010hzg.1_Silent_p.V386V|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.V386V|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.V386V NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 386 Helical; (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) TAGAGATGGTCCTATTTTACC 0.398 NA 17 87 0 0 0 0 RNF168 165918 broad.mit.edu 37 3 196198801 196198801 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr3:196198801C>T uc003fwq.2 - 6 2143 c.1605G>A c.(1603-1605)AAG>AAA p.K535K RNF168_uc010iah.2_Silent_p.K368K|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 535 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) AATTTGGCATCTTTCTTCTAT 0.398 NA 11 450 0 0 0 0 RBPJ 3516 broad.mit.edu 37 4 26422343 26422343 + Silent SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:26422343T>C uc003grx.1 + 6 767 c.531T>C c.(529-531)GCT>GCC p.A177A RBPJ_uc003gry.1_Silent_p.A162A|RBPJ_uc003grz.1_Silent_p.A177A|RBPJ_uc011bxt.1_Silent_p.A177A|RBPJ_uc003gsa.1_Silent_p.A163A|RBPJ_uc003gsb.1_Silent_p.A164A|RBPJ_uc003gsc.1_Silent_p.A163A NM_005349 NP_005340 Q06330 SUH_HUMAN recombining binding protein suppressor of 177 DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Breast(46;0.0503) TGAAAAATGCTGACTGTATGT 0.353 NA 43 31 0 0 0 0 N4BP2 55728 broad.mit.edu 37 4 40123657 40123657 + Missense_Mutation SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:40123657T>C uc003guy.3 + 9 4264 c.3926T>C c.(3925-3927)CTT>CCT p.L1309P N4BP2_uc010ifq.2_Missense_Mutation_p.L1229P|N4BP2_uc010ifr.2_Missense_Mutation_p.L1229P NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1309 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 ACTGATTCTCTTGAAATAAAG 0.259 NA 3 34 0 0 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182127 57182127 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:57182127C>T uc003hbk.2 + 8 2850 c.2459C>T c.(2458-2460)TCG>TTG p.S820L KIAA1211_uc010iha.2_Missense_Mutation_p.S813L|KIAA1211_uc011bzz.1_Missense_Mutation_p.S730L|KIAA1211_uc003hbm.1_Missense_Mutation_p.S706L NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 820 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) ACGACCTCGTCGGACAGCGAG 0.532 NA 20 98 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73963824 73963824 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:73963824C>G uc003hgp.2 - 26 5104 c.4987G>C c.(4987-4989)GAG>CAG p.E1663Q ANKRD17_uc003hgo.2_Missense_Mutation_p.E1550Q|ANKRD17_uc003hgq.2_Missense_Mutation_p.E1412Q|ANKRD17_uc003hgr.2_Missense_Mutation_p.E1662Q NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1663 Ser-rich. 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) GATTTTCTCTCTTCCTTTGGA 0.363 NA 16 182 0 0 0 0 NHEDC2 133308 broad.mit.edu 37 4 103949913 103949913 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:103949913G>A uc003hwx.3 - 11 2255 c.1383C>T c.(1381-1383)GCC>GCT p.A461A NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Silent_p.A461A|NHEDC2_uc011cew.1_Silent_p.A404A|NHEDC2_uc011cex.1_Intron NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 461 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) CCTGAACTGTGGCCTTTGGAA 0.338 NA 10 66 0 0 0 0 NHEDC2 133308 broad.mit.edu 37 4 103949935 103949935 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:103949935G>C uc003hwx.3 - 11 2233 c.1361C>G c.(1360-1362)TCT>TGT p.S454C NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Missense_Mutation_p.S454C|NHEDC2_uc011cew.1_Missense_Mutation_p.S397C|NHEDC2_uc011cex.1_Intron NM_178833 NP_849155 Q86UD5 NHDC2_HUMAN Na+/H+ exchanger domain containing 2 454 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity 0 OV - Ovarian serous cystadenocarcinoma(123;2.3e-08) CCATGCAAAAGAAATAAATAT 0.363 NA 9 75 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126336921 126336921 + Missense_Mutation SNP T T C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:126336921T>C uc003ifj.3 + 5 6803 c.6803T>C c.(6802-6804)GTC>GCC p.V2268A FAT4_uc011cgp.1_Missense_Mutation_p.V566A NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2268 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TCTGTAAATGTCCCTGAGAAT 0.368 NA 10 81 0 0 0 0 GRIA2 2891 broad.mit.edu 37 4 158284089 158284089 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr4:158284089G>T uc003ipm.3 + 15 3004 c.2545G>T c.(2545-2547)GCA>TCA p.A849S GRIA2_uc011cit.1_Missense_Mutation_p.A802S|GRIA2_uc003ipl.3_Missense_Mutation_p.A849S|GRIA2_uc003ipk.3_Missense_Mutation_p.A802S|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 849 Cytoplasmic (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AATGAAGGTGGCAAAGAATGC 0.433 NA 24 102 2.89e-11 3.23e-11 1 0 SEMA5A 9037 broad.mit.edu 37 5 9108255 9108255 + Silent SNP A A G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:9108255A>G uc003jek.2 - 16 2782 c.2070T>C c.(2068-2070)AAT>AAC p.N690N NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 690 TSP type-1 3.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TACTCACCACATTGCAGCCTG 0.542 NA 13 52 0 0 0 0 MARCH6 10299 broad.mit.edu 37 5 10414543 10414543 + Splice_Site SNP A A T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:10414543A>T uc003jet.1 + 20 2080 c.1897_splice c.e20-2 p.I633_splice MARCH6_uc011cmu.1_Splice_Site_p.I585_splice|MARCH6_uc003jeu.1_Splice_Site_p.I331_splice|MARCH6_uc011cmv.1_Splice_Site_p.I528_splice NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 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 TTTACTTTGCAGATATTTCTG 0.348 NA 64 112 0 0 0 0 CDH10 1008 broad.mit.edu 37 5 24593422 24593422 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:24593422G>C uc003jgr.1 - 2 510 c.178C>G c.(178-180)CAA>GAA p.Q60E CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 60 Cadherin 1.|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) AAGAAAAATTGATTCCACATC 0.383 NA HNSCC(23;0.051) 6 236 0 0 0 0 ITGA2 3673 broad.mit.edu 37 5 52347333 52347333 + Silent SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:52347333G>A uc003joy.2 + 7 866 c.723G>A c.(721-723)CAG>CAA p.Q241Q ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.Q165Q|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 241 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CAACATCCCAGACATCCCAAT 0.373 NA 43 80 0 0 0 0 PIK3R1 5295 broad.mit.edu 37 5 67591278 67591279 + Nonsense_Mutation DNP GA GA CT TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:67591278_67591279GA>CT uc003jva.2 + 14 2336_2337 c.1776_1777GA>CT c.(1774-1779)AAGAAG>AACTAG p.592_593KK>N* PIK3R1_uc003jvb.2_Nonsense_Mutation_p.592_593KK>N*|PIK3R1_uc003jvc.2_Nonsense_Mutation_p.292_293KK>N*|PIK3R1_uc003jvd.2_Nonsense_Mutation_p.322_323KK>N*|PIK3R1_uc003jve.2_Nonsense_Mutation_p.271_272KK>N*|PIK3R1_uc011crb.1_Nonsense_Mutation_p.262_263KK>N* NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 592_593 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.M582_D605>I(4)|p.Y580fs*1(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCGGCAAAAGAAGTTGAACGA 0.361 NA Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 5 73 0 0 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140308890 140308890 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:140308890C>A uc003lih.2 + 1 2589 c.2413C>A c.(2413-2415)CAC>AAC p.H805N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.H805N NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 805 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAAGGGGATCACGCTAATGT 0.453 NA 22 162 2.45e-14 2.79e-14 1 0 GABRB2 2561 broad.mit.edu 37 5 160973412 160973412 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:160973412C>A uc003lys.1 - 3 303 c.85G>T c.(85-87)GAC>TAC p.D29Y GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.D29Y|GABRB2_uc003lyt.1_Missense_Mutation_p.D29Y|GABRB2_uc010jiu.1_Intron|GABRB2_uc011dei.1_Missense_Mutation_p.D29Y NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 29 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTACTAGGGTCATTGACACTA 0.443 NA 14 48 2.32e-09 2.55e-09 1 0 CCDC99 54908 broad.mit.edu 37 5 169031117 169031117 + Nonsense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr5:169031117C>G uc003mae.3 + 12 2003 c.1724C>G c.(1723-1725)TCA>TGA p.S575* CCDC99_uc011deq.1_Nonsense_Mutation_p.S392*|CCDC99_uc010jjk.2_Nonsense_Mutation_p.S301* NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 575 cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAAGAAACTTCAAGCAAATTG 0.363 NA 32 81 0 0 0 0 KDM1B 221656 broad.mit.edu 37 6 18207751 18207751 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:18207751C>T uc003nco.1 + 9 1248 c.1173C>T c.(1171-1173)CTC>CTT p.L391L KDM1B_uc003ncn.1_Silent_p.L362L NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 594 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 ACATTCAACTCAAATCTCCAG 0.517 NA 29 70 0 0 0 0 SKIV2L 6499 broad.mit.edu 37 6 31931233 31931233 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:31931233C>T uc003nyn.1 + 14 1836 c.1447C>T c.(1447-1449)CGC>TGC p.R483C SKIV2L_uc011dou.1_Missense_Mutation_p.R325C|SKIV2L_uc011dov.1_Missense_Mutation_p.R290C NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 483 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 CACTGTAACCCGCCCCGTGCC 0.562 NA 21 89 0 0 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245570 33245570 + Missense_Mutation SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:33245570G>T uc003odr.2 + 1 654 c.374G>T c.(373-375)GGG>GTG p.G125V NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 125 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 GGTTCCCAGGGGAGTGACCTG 0.672 NA 44 207 5.2e-24 6e-24 1 0 CUL9 23113 broad.mit.edu 37 6 43155036 43155037 + Missense_Mutation DNP CC CC TT TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:43155036_43155037CC>TT uc003ouk.2 + 6 1515_1516 c.1440_1441CC>TT c.(1438-1443)TACCTC>TATTTC p.L481F CUL9_uc003ouj.1_Intron|CUL9_uc003oul.2_Missense_Mutation_p.L481F|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_Intron NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 481 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CTTTGCCGTACCTCCAGCCCGA 0.54 NA 43 219 0 0 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572083 90572083 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:90572083G>A uc003pnr.2 + 7 851 c.655G>A c.(655-657)GAG>AAG p.E219K CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E219K|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E219K NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 219 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TACATCTGTTGAGAAACACTG 0.388 NA 31 231 0 0 0 0 GJA10 84694 broad.mit.edu 37 6 90605064 90605064 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:90605064C>G uc011eaa.1 + 1 877 c.877C>G c.(877-879)CGA>GGA p.R293G NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 293 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GCAAGTCATTCGAGTTAATGT 0.433 NA 10 77 0 0 0 0 EIF3B 8662 broad.mit.edu 37 7 2415133 2415133 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:2415133G>A uc003slx.2 + 14 2082 c.1999G>A c.(1999-2001)GTC>ATC p.V667I EIF3B_uc003sly.2_Missense_Mutation_p.V667I|EIF3B_uc003sma.2_Missense_Mutation_p.V395I|EIF3B_uc003smb.2_5'Flank NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 667 WD 5. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GCGCTACGTCGTCACCTCTGT 0.562 NA 24 84 0 0 0 0 GHRHR 2692 broad.mit.edu 37 7 31008504 31008504 + Missense_Mutation SNP A A G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:31008504A>G uc003tbx.2 + 2 161 c.113A>G c.(112-114)GAG>GGG p.E38G GHRHR_uc003tbw.1_Missense_Mutation_p.E38G|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 38 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) AGAGAGGATGAGAGTGCCTGT 0.537 NA 11 51 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 78130931 78130931 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:78130931T>A uc003ugx.2 - 5 1182 c.928A>T c.(928-930)ATG>TTG p.M310L MAGI2_uc003ugy.2_Missense_Mutation_p.M310L|MAGI2_uc011kgr.1_Missense_Mutation_p.M142L|MAGI2_uc011kgs.1_Missense_Mutation_p.M147L NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 310 WW 1.|Interaction with DDN. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GTATAGGCCATTTCCCAGTTA 0.448 NA 23 179 0 0 0 0 SAMD9 54809 broad.mit.edu 37 7 92733477 92733477 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:92733477T>A uc003umf.2 - 3 2190 c.1934A>T c.(1933-1935)GAA>GTA p.E645V SAMD9_uc003umg.2_Missense_Mutation_p.E645V NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 645 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GATATCTTCTTCCTTTTTCAG 0.353 NA 23 192 0 0 0 0 NPTX2 4885 broad.mit.edu 37 7 98248963 98248963 + Silent SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:98248963C>G uc003upl.2 + 2 612 c.435C>G c.(433-435)CTC>CTG p.L145L NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 145 synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) AGCACCAGCTCAGAGCAAACG 0.607 NA 57 135 0 0 0 0 OR2A7 401427 broad.mit.edu 37 7 143956646 143956646 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:143956646G>A uc011kuc.1 - 1 76 c.76C>T c.(76-78)CTC>TTC p.L26F OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 26 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) AGCCCAAAGAGGAGCATCTGA 0.527 NA 10 73 0 0 0 0 EFHA2 286097 broad.mit.edu 37 8 16956031 16956031 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:16956031C>T uc003wxd.2 + 9 995 c.953C>T c.(952-954)ACA>ATA p.T318I NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 318 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) AGACGTAACACAAGCCAAGCA 0.383 NA 53 140 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35608198 35608198 + Silent SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:35608198C>A uc003xjr.1 + 13 2362 c.2034C>A c.(2032-2034)CTC>CTA p.L678L UNC5D_uc003xjs.1_Silent_p.L673L|UNC5D_uc003xju.1_Silent_p.L254L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 678 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCTATGCGCTCACTGGAGAGC 0.498 NA 45 284 1.97e-11 2.22e-11 1 0 KIAA0146 23514 broad.mit.edu 37 8 48309175 48309175 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:48309175G>C uc003xqd.2 + 6 774 c.765G>C c.(763-765)AAG>AAC p.K255N KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Missense_Mutation_p.K255N|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.K185N|KIAA0146_uc011ldd.1_Missense_Mutation_p.K195N|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 255 0 Lung NSC(58;0.175) CAGCAAAGAAGAAGCTTTTAA 0.313 NA 88 174 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56015448 56015448 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:56015448G>A uc003xsf.2 + 1 432 c.400G>A c.(400-402)GTG>ATG p.V134M NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 134 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CTGGCTCGCCGTGGACTACTA 0.662 NA 7 118 0 0 0 0 XKR4 114786 broad.mit.edu 37 8 56015674 56015674 + Missense_Mutation SNP C C A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:56015674C>A uc003xsf.2 + 1 658 c.626C>A c.(625-627)CCT>CAT p.P209H NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 209 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) GAGGCTCGTCCTTCCACGCCG 0.692 NA 22 38 2.89e-11 3.23e-11 1 0 GSDMC 56169 broad.mit.edu 37 8 130789715 130789715 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:130789715C>T uc003ysr.2 - 2 1001 c.119G>A c.(118-120)CGA>CAA p.R40Q NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 40 mitochondrion ovary(2)|skin(1) 3 CTTCTTCTTTCGTAATATAAC 0.398 NA 30 174 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139180196 139180196 + Silent SNP G G T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:139180196G>T uc003yuy.2 - 12 1371 c.1200C>A c.(1198-1200)GGC>GGA p.G400G FAM135B_uc003yux.2_Silent_p.G301G|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 400 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) TGTTCCAATCGCCGTCGATGT 0.552 NA HNSCC(54;0.14) 60 159 5.11e-33 5.93e-33 1 0 NTRK2 4915 broad.mit.edu 37 9 87339210 87339210 + Missense_Mutation SNP C C G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr9:87339210C>G uc004aoa.1 + 10 1730 c.792C>G c.(790-792)ATC>ATG p.I264M NTRK2_uc004anv.1_Missense_Mutation_p.I264M|NTRK2_uc004any.1_Missense_Mutation_p.I264M|NTRK2_uc004anz.1_Missense_Mutation_p.I264M|NTRK2_uc011lsz.1_Missense_Mutation_p.I264M|NTRK2_uc011lta.1_Missense_Mutation_p.I264M|NTRK2_uc004aob.1_Missense_Mutation_p.I264M|NTRK2_uc011ltb.1_Missense_Mutation_p.I108M NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 264 Extracellular (Potential).|Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 GGAAGCAGATCTCTTGTGTGG 0.393 NA TSP Lung(25;0.17) 12 249 0 0 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111745497 111745497 + Silent SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr9:111745497C>T uc004bdo.1 - 6 870 c.828G>A c.(826-828)GTG>GTA p.V276V CTNNAL1_uc010mts.1_Silent_p.V12V|CTNNAL1_uc010mtt.1_Silent_p.V276V|CTNNAL1_uc004bdp.1_Silent_p.V276V NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 276 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) TACAGTCAGTCACAATTTCAA 0.353 NA 6 64 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139402755 139402755 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr9:139402755C>T uc004chz.2 - 20 3254 c.3254G>A c.(3253-3255)TGC>TAC p.C1085Y NOTCH1_uc004cia.1_Missense_Mutation_p.C315Y NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1085 Extracellular (Potential).|EGF-like 28. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCGCTGGGGCACTCGCAGCG 0.647 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 33 58 0 0 0 0 BEND2 139105 broad.mit.edu 37 X 18234753 18234753 + Silent SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chrX:18234753T>A uc004cyj.3 - 2 280 c.126A>T c.(124-126)ATA>ATT p.I42I BEND2_uc010nfb.2_Silent_p.I42I NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 42 ovary(3)|kidney(1)|central_nervous_system(1) 5 AATCATCTGCTATGTCATTAG 0.418 NA 26 33 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32482777 32482777 + Missense_Mutation SNP C C T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chrX:32482777C>T uc004dda.1 - 24 3446 c.3202G>A c.(3202-3204)GAT>AAT p.D1068N DMD_uc004dcz.2_Missense_Mutation_p.D945N|DMD_uc004dcy.1_Missense_Mutation_p.D1064N|DMD_uc004ddb.1_Missense_Mutation_p.D1060N|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1068 Spectrin 7. 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) AGAAAAACATCAACTTCAGCC 0.388 NA 12 84 0 0 0 0 TFE3 7030 broad.mit.edu 37 X 48888064 48888064 + Missense_Mutation SNP G G C TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chrX:48888064G>C uc004dmb.3 - 10 1571 c.1333C>G c.(1333-1335)CCA>GCA p.P445A TFE3_uc004dmc.3_Missense_Mutation_p.P340A NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 445 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 AGCAGCCCTGGAGTGGGAGGT 0.577 NA T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 13 29 0 0 0 0 TFE3 7030 broad.mit.edu 37 X 48888088 48888088 + Missense_Mutation SNP G G A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chrX:48888088G>A uc004dmb.3 - 10 1547 c.1309C>T c.(1309-1311)CAT>TAT p.H437Y TFE3_uc004dmc.3_Missense_Mutation_p.H332Y NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 437 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 GGCAGGCCATGGATCTGGGCC 0.547 NA T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 10 32 0 0 0 0 HDX 139324 broad.mit.edu 37 X 83723928 83723928 + Missense_Mutation SNP A A G TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chrX:83723928A>G uc004eek.1 - 3 912 c.803T>C c.(802-804)TTG>TCG p.L268S HDX_uc011mqv.1_Missense_Mutation_p.L268S|HDX_uc004eel.1_Missense_Mutation_p.L210S NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GCTAACTGCCAATGAAAACAC 0.453 NA 51 74 0 0 0 0 SLC16A9 220963 broad.mit.edu 37 10 61413786 61413788 + In_Frame_Del DEL CTT CTT - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr10:61413786_61413788delCTT uc010qig.1 - 5 1445_1447 c.996_998delAAG c.(994-999)AGAAGT>AGT p.R332del NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 332 Cytoplasmic (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 CACGTTTGAACTTCTTGCTACAT 0.365 NA 11 99 --- --- --- --- NA NA NA NA TCP11L1 55346 broad.mit.edu 37 11 33079527 33079527 + Frame_Shift_Del DEL G G - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr11:33079527delG uc001mud.2 + 5 880 c.480delG c.(478-480)TTGfs p.L160fs TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Frame_Shift_Del_p.L160fs|TCP11L1_uc001mue.2_Frame_Shift_Del_p.L160fs|TCP11L1_uc001muf.1_5'Flank NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 160 0 CAGAAGTCTTGGATCTGGATC 0.433 NA 12 68 --- --- --- --- NA NA NA NA CNTNAP5 129684 broad.mit.edu 37 2 125284919 125284921 + In_Frame_Del DEL GCT GCT - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:125284919_125284921delGCT uc002tno.2 + 10 1896_1898 c.1532_1534delGCT c.(1531-1536)GGCTGC>GGC p.C512del CNTNAP5_uc010flu.2_In_Frame_Del_p.C513del NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 512 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCTTTCCAAGGCTGCATGAGGCT 0.433 NA 12 101 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179600777 179600778 + Frame_Shift_Del DEL GA GA - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:179600777_179600778delGA uc010zfg.1 - 47 10887_10888 c.10663_10664delTC c.(10663-10665)TCCfs p.S3555fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.S216fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4482 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) CTTAGGTCTGGAGAGAAAGGTT 0.431 NA 29 92 --- --- --- --- NA NA NA NA SATB2 23314 broad.mit.edu 37 2 200213543 200213544 + Frame_Shift_Ins INS - - T TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr2:200213543_200213544insT uc002uuy.1 - 7 1870_1871 c.1053_1054insA c.(1051-1056)CCAGAGfs p.P351fs SATB2_uc010fsq.1_Frame_Shift_Ins_p.P233fs|SATB2_uc002uuz.1_Frame_Shift_Ins_p.P351fs|SATB2_uc002uva.1_Frame_Shift_Ins_p.P351fs|SATB2_uc002uvb.1_Frame_Shift_Ins_p.P94fs NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 351_352 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TTGGTTGGCTCTGGCTTAACTG 0.54 NA 59 181 --- --- --- --- NA NA NA NA PRDM15 63977 broad.mit.edu 37 21 43221744 43221745 + Frame_Shift_Ins INS - - A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr21:43221744_43221745insA uc002yzq.1 - 31 4290_4291 c.4179_4180insT c.(4177-4182)CTTACCfs p.L1393fs PRDM15_uc002yzo.2_Frame_Shift_Ins_p.L1064fs|PRDM15_uc002yzp.2_Frame_Shift_Ins_p.L1084fs|PRDM15_uc002yzr.1_Frame_Shift_Ins_p.L1084fs NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1393_1394 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCAGGGGTGGTAAGGTGCCCCA 0.579 NA 15 38 --- --- --- --- NA NA NA NA APOL4 80832 broad.mit.edu 37 22 36595382 36595392 + Frame_Shift_Del DEL ACTGTCCAGCC ACTGTCCAGCC - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr22:36595382_36595392delACTGTCCAGCC uc003aox.2 - 3 300_310 c.75_85delGGCTGGACAGT c.(73-87)GTGGCTGGACAGTTCfs p.V25fs APOL4_uc003aow.2_Frame_Shift_Del_p.V22fs|APOL4_uc010gww.2_5'UTR|APOL4_uc003aoy.2_RNA NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN apolipoprotein L4 isoform 2 precursor 25_29 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding 0 TTACCTTGGAACTGTCCAGCCACTGTCCAGC 0.54 NA 7 75 --- --- --- --- NA NA NA NA SENP6 26054 broad.mit.edu 37 6 76412714 76412714 + Frame_Shift_Del DEL C C - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr6:76412714delC uc003pid.3 + 19 3261 c.2642delC c.(2641-2643)TCCfs p.S881fs SENP6_uc003pie.3_Frame_Shift_Del_p.S874fs|SENP6_uc010kbf.2_Intron NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 881 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) GAATCTACATCCCAGAAAGTT 0.328 NA 60 282 --- --- --- --- NA NA NA NA ABP1 26 broad.mit.edu 37 7 150553769 150553780 + In_Frame_Del DEL CTCATCGAGATG CTCATCGAGATG - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr7:150553769_150553780delCTCATCGAGATG uc003why.1 + 3 4429_4440 c.211_222delCTCATCGAGATG c.(211-222)CTCATCGAGATGdel p.LIEM71del ABP1_uc003whz.1_In_Frame_Del_p.LIEM71del|ABP1_uc003wia.1_In_Frame_Del_p.LIEM71del NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 71_74 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CACCGTGTTTCTCATCGAGATGCTGCTGCCCA 0.557 NA 14 161 --- --- --- --- NA NA NA NA PIWIL2 55124 broad.mit.edu 37 8 22172591 22172591 + Frame_Shift_Del DEL C C - TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7240e742-9315-4fb8-b6f7-28bfe69410a8 de75d4f6-43b1-473c-9bf3-10a178cc9aa7 g.chr8:22172591delC uc003xbn.2 + 18 2289 c.2141delC c.(2140-2142)GCCfs p.A714fs PIWIL2_uc011kzf.1_Frame_Shift_Del_p.A714fs|PIWIL2_uc010ltv.2_Frame_Shift_Del_p.A714fs NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 714 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CGGAGTGTGGCCCAGAAGATT 0.483 NA 29 89 --- --- --- --- NA NA NA NA