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 NOS1AP 9722 broad.mit.edu 37 1 162124256 162124256 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr1:162124256G>A uc001gbv.2 + 2 554 c.167G>A c.(166-168)CGC>CAC p.R56H NOS1AP_uc010pkr.1_Missense_Mutation_p.R56H|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.R56H NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 56 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding p.R56H(2) lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) GCTGCCATGCGCCGGATACGG 0.607 NA 10 15 0 0 0 0 PIGC 5279 broad.mit.edu 37 1 172411036 172411036 + Silent SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr1:172411036G>A uc001gil.2 - 2 1008 c.727C>T c.(727-729)CTA>TTA p.L243L PIGC_uc001gii.1_Intron|PIGC_uc001gij.1_Intron|C1orf105_uc001gik.2_Intron|PIGC_uc001gin.2_Silent_p.L243L|PIGC_uc001gio.2_Silent_p.L243L NM_153747 NP_714969 Q92535 PIGC_HUMAN phosphatidylinositol glycan, class C 243 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity lung(1) 1 ATGGACAGTAGGCCTCCCACG 0.498 NA 44 30 0 0 0 0 ASPM 259266 broad.mit.edu 37 1 197112489 197112489 + Missense_Mutation SNP A A G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr1:197112489A>G uc001gtu.2 - 3 1150 c.893T>C c.(892-894)CTT>CCT p.L298P ASPM_uc001gtv.2_Missense_Mutation_p.L298P|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 298 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GTTGGGGGTAAGACTAAGTTT 0.318 NA 38 63 0 0 0 0 CAMSAP1L1 23271 broad.mit.edu 37 1 200827083 200827083 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr1:200827083G>A uc001gvl.2 + 18 4636 c.4366G>A c.(4366-4368)GCT>ACT p.A1456T CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.A1445T|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.A1429T NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1456 CKK. cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCACATACCCGCTAAAACTTT 0.373 NA 4 157 0 0 0 0 PFKP 5214 broad.mit.edu 37 10 3178006 3178006 + Missense_Mutation SNP A A G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr10:3178006A>G uc001igp.2 + 21 2237 c.2201A>G c.(2200-2202)GAG>GGG p.E734G PFKP_uc001igq.2_Missense_Mutation_p.E726G|PFKP_uc009xhr.2_Missense_Mutation_p.E696G|PFKP_uc009xht.2_Missense_Mutation_p.E472G|PFKP_uc009xhu.2_Missense_Mutation_p.E240G NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 734 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding p.E734G(1) upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CCTGTGGCAGAGCTGAAGAAG 0.413 NA 26 6 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135026377 135026377 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr10:135026377C>T uc001llz.1 + 24 4395 c.4394C>T c.(4393-4395)ACG>ATG p.T1465M NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1465 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.T1465M(1) upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TACTTCCTGACGGAGTACAGC 0.657 NA 17 22 0 0 0 0 ODF3 113746 broad.mit.edu 37 11 198284 198284 + Silent SNP A A G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr11:198284A>G uc001lob.2 + 4 690 c.396A>G c.(394-396)CGA>CGG p.R132R ODF3_uc010qvk.1_Silent_p.R132R|ODF3_uc001loc.2_3'UTR NM_053280 NP_444510 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 132 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ovary(1) 1 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGCATTCCGAGTGGACAGCA 0.607 NA 7 19 0 0 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642976 1642976 + Silent SNP A A C TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr11:1642976A>C uc009ycy.1 - 3 573 c.486T>G c.(484-486)GGT>GGG p.G162G NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 176 9 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCCTTGGAACCCCCACAGG 0.662 NA 8 45 0 0 0 0 MRPL17 63875 broad.mit.edu 37 11 6704488 6704488 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr11:6704488C>T uc001men.2 - 1 145 c.40G>A c.(40-42)GTA>ATA p.V14I NM_022061 NP_071344 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 precursor 14 translation ribosome protein domain specific binding|structural constituent of ribosome 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CGGCGAAATACGCGGCCATGG 0.637 NA OREG0020719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 33 0 0 0 0 MTMR2 8898 broad.mit.edu 37 11 95569371 95569371 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr11:95569371G>A uc001pfu.2 - 14 1964 c.1711C>T c.(1711-1713)CGC>TGC p.R571C MTMR2_uc001pfv.2_Missense_Mutation_p.R499C|MTMR2_uc001pfs.2_Missense_Mutation_p.R499C|MTMR2_uc001pft.2_Missense_Mutation_p.R499C NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 571 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCTAGGTGGCGCATGCTGGCT 0.453 NA 5 291 0 0 0 0 MYL6B 140465 broad.mit.edu 37 12 56547746 56547746 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr12:56547746C>A uc001sjs.2 + 2 171 c.44C>A c.(43-45)CCC>CAC p.P15H MYL6B_uc009zoo.2_Missense_Mutation_p.P15H|MYL6B_uc001sjt.2_Missense_Mutation_p.P15H|MYL6B_uc001sju.1_Missense_Mutation_p.P15H NM_002475 NP_002466 P14649 MYL6B_HUMAN smooth muscle and non-muscle myosin alkali light 15 muscle filament sliding|skeletal muscle tissue development cytosol|muscle myosin complex|unconventional myosin complex calcium ion binding|motor activity|protein binding|structural constituent of muscle 0 OV - Ovarian serous cystadenocarcinoma(18;0.0979) CCAGCAGGGCCCTCCATCTCC 0.587 NA 3 37 0.004672 0.00495951 1 0 NAB2 4665 broad.mit.edu 37 12 57485446 57485446 + Missense_Mutation SNP T T C TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr12:57485446T>C uc001smz.2 + 2 1000 c.622T>C c.(622-624)TTC>CTC p.F208L NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 208 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 CTCGCCCCCCTTCTCCCCCCC 0.716 NA 5 30 0 0 0 0 RFX4 5992 broad.mit.edu 37 12 107113755 107113755 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr12:107113755C>A uc001tlr.2 + 12 1222 c.1156C>A c.(1156-1158)CAT>AAT p.H386N RFX4_uc001tls.2_Missense_Mutation_p.H395N|RFX4_uc001tlt.2_Missense_Mutation_p.H395N|RFX4_uc001tlv.2_Missense_Mutation_p.H292N NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 386 Necessary for dimerization. transcription, DNA-dependent nucleus DNA binding p.H386N(1) upper_aerodigestive_tract(1) 1 GGAGTTTGACCATCTCTTGGA 0.473 NA 16 39 8.28e-16 1.01e-15 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216155 20216155 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr14:20216155G>A uc010tkt.1 + 1 569 c.569G>A c.(568-570)TGC>TAC p.C190Y NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGCTGGCCTGCATGGACACC 0.483 NA 17 53 0 0 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21762877 21762877 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr14:21762877C>T uc001wag.2 + 2 127 c.127C>T c.(127-129)CGG>TGG p.R43W NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 43 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) CAGGATGAACCGGGAGGAATT 0.408 NA 16 25 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43821514 43821514 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr15:43821514C>A uc001zrt.2 + 4 8310 c.7843C>A c.(7843-7845)CCA>ACA p.P2615T NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2615 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CAAGGCCAAGCCAGCGTCCCC 0.662 NA 25 22 2.8e-10 3.33e-10 1 0 CEP152 22995 broad.mit.edu 37 15 49097837 49097837 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr15:49097837C>A uc001zwy.2 - 2 44 c.10G>T c.(10-12)GAC>TAC p.D4Y CEP152_uc001zwz.2_Missense_Mutation_p.D4Y|CEP152_uc001zxa.1_Missense_Mutation_p.D4Y NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 4 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGCCAAAGTCTAATGACATG 0.398 NA 4 63 2.56e-06 2.97e-06 1 0 TEX9 374618 broad.mit.edu 37 15 56665657 56665657 + Missense_Mutation SNP G G T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr15:56665657G>T uc002adp.2 + 3 143 c.138G>T c.(136-138)TTG>TTT p.L46F TEX9_uc002ado.1_Missense_Mutation_p.L46F|TEX9_uc010ugl.1_5'UTR|TEX9_uc002adq.1_5'UTR NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 46 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) ATGCAGAATTGCAGGCAAAAA 0.269 NA 10 10 1.62e-10 1.94e-10 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87445930 87445930 + Missense_Mutation SNP T T G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr16:87445930T>G uc002fjz.1 - 12 2013 c.1986A>C c.(1984-1986)CAA>CAC p.Q662H ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.Q438H NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 662 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding p.Q662H(1) upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCACACTTATTTGCACATTAT 0.532 NA 127 84 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) 15 28 0 0 0 0 KRT14 3861 broad.mit.edu 37 17 39740135 39740135 + Silent SNP G G T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr17:39740135G>T uc002hxf.1 - 4 865 c.804C>A c.(802-804)GTC>GTA p.V268V JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Silent_p.V268V NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 268 Rod.|Linker 12. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) TCTCCACATTGACATCTCCAC 0.567 NA 31 44 1.75e-13 2.12e-13 1 0 MRPL27 51264 broad.mit.edu 37 17 48447949 48447949 + Splice_Site SNP T T A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr17:48447949T>A uc002iqq.2 - 2 72 c.41_splice c.e2-1 p.V14_splice MRPL27_uc002iqr.2_Splice_Site_p.V14_splice|EME1_uc002iqs.1_5'Flank NM_016504 NP_057588 Q9P0M9 RM27_HUMAN mitochondrial ribosomal protein L27 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;1.73e-07) AGGATGTAACTGCAGAGAAAA 0.498 NA 5 147 0 0 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71282113 71282113 + Missense_Mutation SNP T T C TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr17:71282113T>C uc002jjn.2 - 2 674 c.527A>G c.(526-528)GAC>GGC p.D176G CDC42EP4_uc002jjo.2_Missense_Mutation_p.D176G|CDC42EP4_uc002jjp.1_Missense_Mutation_p.D106G NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 176 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GAGGAGGGGGTCAGGGGAATG 0.657 NA 25 28 0 0 0 0 RNF213 57674 broad.mit.edu 37 17 78326742 78326742 + Missense_Mutation SNP C C A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr17:78326742C>A uc002jyh.1 + 8 4748 c.4525C>A c.(4525-4527)CTG>ATG p.L1509M uc002jyi.1_RNA|RNF213_uc010dhw.1_5'Flank 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) CTTCACAGGGCTGTGGCAGTC 0.562 NA 9 139 0.000673444 0.000749478 1 0 REXO1 57455 broad.mit.edu 37 19 1818781 1818781 + Silent SNP G G A rs138422554 by1000genomes TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr19:1818781G>A uc002lua.3 - 9 2921 c.2826C>T c.(2824-2826)AAC>AAT p.N942N REXO1_uc010dsq.2_Silent_p.N251N|REXO1_uc010xgs.1_Translation_Start_Site|MIR1909_hsa-mir-1909|MI0008330_5'Flank|REXO1_uc010dsp.1_RNA NM_020695 NP_065746 Q8N1G1 REXO1_HUMAN transcription elongation factor B polypeptide 3 942 nucleus exonuclease activity|nucleic acid binding 0 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGGTAGCCGTTCTCCTTGA 0.667 NA 11 19 0 0 0 0 ZNF414 84330 broad.mit.edu 37 19 8576734 8576734 + Missense_Mutation SNP T T A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr19:8576734T>A uc002mkf.2 - 5 759 c.641A>T c.(640-642)GAC>GTC p.D214V ZNF414_uc002mke.3_Missense_Mutation_p.D214V|ZNF414_uc010dwf.2_Missense_Mutation_p.D203V NM_032370 NP_115746 Q96IQ9 ZN414_HUMAN zinc finger protein 414 isoform 2 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CGGCTCTCGGTCCAGGGCCGG 0.746 NA 5 3 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168105632 168105632 + Missense_Mutation SNP A A G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr2:168105632A>G uc002udx.2 + 8 7748 c.7730A>G c.(7729-7731)AAT>AGT p.N2577S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N2402S|XIRP2_uc010fpq.2_Missense_Mutation_p.N2355S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2402 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CAAAGCCAAAATCAACACATA 0.343 NA 51 55 0 0 0 0 SGK2 10110 broad.mit.edu 37 20 42208658 42208658 + Missense_Mutation SNP A A G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr20:42208658A>G uc002xkv.2 + 11 1295 c.1076A>G c.(1075-1077)GAC>GGC p.D359G SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.D299G|SGK2_uc010ggm.2_Missense_Mutation_p.D299G|SGK2_uc002xks.2_Missense_Mutation_p.D298G|SGK2_uc002xku.2_Missense_Mutation_p.D299G NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 359 AGC-kinase C-terminal. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity p.D359G(1) lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AACTGGGATGACCTGTACCAC 0.383 NA 19 28 0 0 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62328365 62328365 + Nonsense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr20:62328365G>A uc002yfy.2 + 5 679 c.245G>A c.(244-246)TGG>TAG p.W82* RTEL1_uc011abd.1_3'UTR|RTEL1_uc011abe.1_3'UTR|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.2_Nonsense_Mutation_p.W82* NM_032945 NP_116563 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, 82 TNFR-Cys 2. anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) ACGCAGTTCTGGAACTACCTA 0.697 NA 5 14 0 0 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047662 46047662 + Missense_Mutation SNP T T A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr21:46047662T>A uc002zfp.3 + 1 623 c.574T>A c.(574-576)TGC>AGC p.C192S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 192 25 X 5 AA repeats of C-C-X(3).|19. keratin filament 0 TAAGCCTGTCTGCTGCAAACC 0.597 NA 9 225 0 0 0 0 DOCK3 1795 broad.mit.edu 37 3 51198105 51198105 + Nonsense_Mutation SNP G G T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr3:51198105G>T uc011bds.1 + 12 1032 c.1009G>T c.(1009-1011)GAA>TAA p.E337* NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 337 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGTAAAGGAAGAAAAGGATTT 0.438 NA 5 7 0.000602214 0.000675655 1 0 CLDN18 51208 broad.mit.edu 37 3 137749947 137749947 + Missense_Mutation SNP G G T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr3:137749947G>T uc003ero.1 + 5 803 c.750G>T c.(748-750)GAG>GAT p.E250D CLDN18_uc003erp.1_Missense_Mutation_p.E250D|CLDN18_uc010hue.1_Missense_Mutation_p.E206D NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 250 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.E250D(2) upper_aerodigestive_tract(1)|ovary(1) 2 CAGAGGACGAGGTACAATCTT 0.517 NA 46 66 3.71e-28 4.61e-28 1 0 FGB 2244 broad.mit.edu 37 4 155490819 155490819 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr4:155490819C>T uc003ioa.3 + 7 1151 c.1112C>T c.(1111-1113)TCA>TTA p.S371L FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.S309L|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.S152L NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 371 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S371L(1) ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TACCAGATCTCAGTGAACAAA 0.448 NA 21 42 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581481 140581481 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr5:140581481C>T uc003liy.2 + 1 2134 c.2134C>T c.(2134-2136)CGG>TGG p.R712W PCDHB11_uc011daj.1_Missense_Mutation_p.R347W NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 712 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTGGCGGTGCGGCTGTGCAG 0.682 NA 5 105 0 0 0 0 GCNT2 2651 broad.mit.edu 37 6 10529618 10529618 + Silent SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr6:10529618G>A uc010joo.2 + 3 1025 c.474G>A c.(472-474)TCG>TCA p.S158S GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.S157S|GCNT2_uc010jon.2_Silent_p.S157S NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 158 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGAAGGAGTCGGTTGTCTATG 0.532 NA 15 21 0 0 0 0 NCR3 259197 broad.mit.edu 37 6 31557388 31557388 + Silent SNP A A C TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr6:31557388A>C uc003nuv.2 - 3 675 c.411T>G c.(409-411)GGT>GGG p.G137G NCR3_uc003nuw.2_Silent_p.G137G|NCR3_uc003nux.1_Silent_p.G137G NM_147130 NP_667341 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 137 Helical; (Potential). cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GGAGGACTGTACCAGCCCCTA 0.582 NA 6 20 0 0 0 0 EGFL8 80864 broad.mit.edu 37 6 32134741 32134741 + Missense_Mutation SNP G G T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr6:32134741G>T uc003oab.1 + 5 447 c.389G>T c.(388-390)TGC>TTC p.C130F PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Missense_Mutation_p.C130F NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 130 EGF-like 1. extracellular region|integral to membrane calcium ion binding 0 CCTGACCAGTGCGAGTGCGCC 0.652 NA 4 95 0.00024832 0.000280887 1 0 ECT2L 345930 broad.mit.edu 37 6 139167808 139167808 + Silent SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr6:139167808G>A uc003qif.1 + 6 1000 c.897G>A c.(895-897)GCG>GCA p.A299A ECT2L_uc011edq.1_Silent_p.A230A NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 299 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 GGATTCCTGCGTATGAGGTAG 0.383 NA 104 145 0 0 0 0 SHPRH 257218 broad.mit.edu 37 6 146276439 146276439 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr6:146276439C>T uc003qlf.2 - 2 419 c.20G>A c.(19-21)CGT>CAT p.R7H SHPRH_uc003qld.2_Missense_Mutation_p.R7H|SHPRH_uc003qle.2_Missense_Mutation_p.R7H|SHPRH_uc003qlg.1_Translation_Start_Site|SHPRH_uc003qlj.1_Missense_Mutation_p.R7H|SHPRH_uc003qlk.1_Missense_Mutation_p.R7H NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 7 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGGAGGAGCACGTTTCCGTCG 0.428 NA 42 55 0 0 0 0 ANK1 286 broad.mit.edu 37 8 41530033 41530033 + Missense_Mutation SNP C C G TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr8:41530033C>G uc003xok.2 - 38 5019 c.4935G>C c.(4933-4935)AGG>AGC p.R1645S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Missense_Mutation_p.R1645S|ANK1_uc003xoj.2_Missense_Mutation_p.R1645S|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Missense_Mutation_p.R1686S NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1645 55 kDa regulatory domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCTCTTCTGACCTCTGACCTT 0.537 NA 7 177 0 0 0 0 FAM135B 51059 broad.mit.edu 37 8 139164859 139164859 + Missense_Mutation SNP T T A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chr8:139164859T>A uc003yuy.2 - 13 2030 c.1859A>T c.(1858-1860)AAG>ATG p.K620M FAM135B_uc003yux.2_Missense_Mutation_p.K521M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.K182M|FAM135B_uc003yvb.2_Missense_Mutation_p.K182M NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 620 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) ATCTATTCCCTTTCCTAGAGT 0.473 NA HNSCC(54;0.14) 39 88 0 0 0 0 IL3RA 3563 broad.mit.edu 37 X 1484134 1484134 + Missense_Mutation SNP C C T TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chrX:1484134C>T uc004cps.2 + 9 1212 c.863C>T c.(862-864)CCC>CTC p.P288L IL3RA_uc011mhd.1_Missense_Mutation_p.P210L NM_002183 NP_002174 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha precursor 288 Extracellular (Potential). integral to membrane|plasma membrane interleukin-3 receptor activity skin(2)|lung(1) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGGAGCACCCCCCAGCGCTTC 0.373 NA 15 36 0 0 0 0 BEND2 139105 broad.mit.edu 37 X 18195875 18195875 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chrX:18195875G>A uc004cyj.3 - 10 1598 c.1444C>T c.(1444-1446)CCA>TCA p.P482S BEND2_uc010nfb.2_Missense_Mutation_p.P391S NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 482 ovary(3)|kidney(1)|central_nervous_system(1) 5 TTTCTTTTTGGATCACCAAGA 0.378 NA 14 107 0 0 0 0 TCEAL3 85012 broad.mit.edu 37 X 102864204 102864204 + Missense_Mutation SNP G G A TCGA-CV-5979-01A-11D-1683-08 TCGA-CV-5979-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq c2c31b58-c5b3-4fc3-be99-b978d2961f86 360e4ed7-d780-4769-98e9-3dd07468d2b0 g.chrX:102864204G>A uc004ekq.2 + 3 474 c.212G>A c.(211-213)AGG>AAG p.R71K TCEAL3_uc004ekr.2_Missense_Mutation_p.R71K NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 71 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 AAGCAGGGCAGGTCCGAAGGT 0.398 NA 3 67 0 0 0 0