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_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut AGPAT9 84803 broad.mit.edu 37 4 84465712 84465712 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:84465712A>G uc003how.3 + 2 383 c.165A>G c.(163-165)aaA>aaG p.K55K AGPAT9_uc003hox.3_Silent_p.K55K|AGPAT9_uc003hoy.3_Silent_p.K55K NM_032717 NP_116106 Q53EU6 GPAT3_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA. 55 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) GAATTGAAAAAGGAACCCCAA 0.343000 3 185 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941254 144941254 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr8:144941254G>A uc003zaa.1 - 0 6181 c.6168C>T c.(6166-6168)gaC>gaT p.D2056D NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2056 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCGTGTTCGGGTCCACAAACC 0.587000 3 76 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785074 24785074 + Missense_Mutation SNP T T C TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr14:24785074T>C uc001wos.3 + 1 538 c.217T>C c.(217-219)Ttt>Ctt p.F73L LTB4R_uc010alp.3_Missense_Mutation_p.F73L|LTB4R_uc001wou.3_Missense_Mutation_p.F73L|LTB4R_uc021rrq.1_Missense_Mutation_p.F73L NM_001143919 NP_858043 Q15722 LT4R1_HUMAN Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 2, mRNA. 73 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CACTGCTCCCTTTTTCCTTCA 0.582000 3 193 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25909679 25909679 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr17:25909679G>A uc010crg.3 + 4 562 c.117G>A c.(115-117)gaG>gaA p.E39E KSR1_uc002gzj.1_Intron NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 174 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CAGGAGGGGAGCACAAGGAGG 0.612000 3 93 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 24 104 0 0 1 0 0 HAPLN3 145864 broad.mit.edu 37 15 89424649 89424649 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr15:89424649G>A uc002bnd.3 - 3 699 c.618C>T c.(616-618)taC>taT p.Y206Y HAPLN3_uc002bnc.3_Silent_p.Y144Y|HAPLN3_uc002bne.3_Non-coding_Transcript NM_178232 NP_839946 Q96S86 HPLN3_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA. 144 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTCACAGCGGTAACGCCCAT 0.617000 4 141 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40118565 40118565 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr20:40118565A>G uc002xka.1 - 11 1711 c.1533T>C c.(1531-1533)ccT>ccC p.P511P CHD6_uc002xkd.2_Silent_p.P489P NM_032221 NP_115597 Q8TD26 CHD6_HUMAN Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA. 511 Helicase ATP-binding. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TAATGAGAAAAGGGCCGTGGA 0.488000 3 163 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241569925 241569925 + Missense_Mutation SNP G G A rs146267919 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr2:241569925G>A uc010fzi.2 + 5 1521 c.649G>A c.(649-651)Gtg>Atg p.V217M GPR35_uc010fzh.2_Missense_Mutation_p.V217M|GPR35_uc021vze.1_Missense_Mutation_p.V186M|GPR35_uc002vzs.2_Missense_Mutation_p.V186M NM_001195381 NP_001182310 Q9HC97 GPR35_HUMAN Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA. 186 integral to plasma membrane G-protein coupled receptor activity p.R217H(1) NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GCCCCTGGCCGTGGTGGTCTT 0.662000 3 83 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103542065 103542065 + Missense_Mutation SNP C C A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr10:103542065C>A uc001ktt.3 - 3 391 c.368G>T c.(367-369)cGc>cTc p.R123L FGF8_uc021pxg.1_5'Flank NM_006993 NP_008924 O75607 NPM3_HUMAN Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA. 123 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) CGACTTCAGGCGGAAGGTTAC 0.602000 7 29 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104107531 104107531 + Missense_Mutation SNP G G T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr12:104107531G>T uc001tjw.3 + 41 4708 c.4522G>T c.(4522-4524)Ggc>Tgc p.G1508C STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1508 EGF-like 12. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CACGGGTGATGGCATTGTGTG 0.517000 72 334 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100350697 100350697 + Missense_Mutation SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:100350697G>A uc021xqj.1 - 1 202 c.172C>T c.(172-174)Cgc>Tgc p.R58C ADH7_uc003huv.2_Missense_Mutation_p.R50C NM_001166504 NP_001159976 P40394 ADH7_HUMAN Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 1, mRNA. 50 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ACCTTAATGCGAACTTCTTTA 0.403000 6 23 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 14925625 14925625 + Silent SNP C C T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:14925625C>T uc001avm.4 + 0 413 c.132C>T c.(130-132)ggC>ggT p.G44G KAZN_uc009vog.1_Silent_p.G44G NM_201628 NP_963922 Q674X7 KAZRN_HUMAN Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA. 44 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 gcggcggcggcggccccggcc 0.741000 3 31 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53700562 53700562 + Splice_Site SNP G G T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr3:53700562G>T uc003dgu.4 + 7 1279 c.1116_splice c.e7+1 p.W372_splice CACNA1D_uc003dgv.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgy.4_Splice_Site_p.W372_splice|CACNA1D_uc003dgw.4_Splice_Site_p.W19_splice NM_000720 NP_000711 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 1, mRNA. 372 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TGCTCTACTGGGTAAGTACCC 0.502000 6 234 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000902 121000902 + Missense_Mutation SNP C C T rs138696978 TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr11:121000902C>T uc010rzo.2 + 8 2923 c.2923C>T c.(2923-2925)Cgg>Tgg p.R975W NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 975 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGGCCCTGGCGGACCTATGA 0.597000 3 97 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr4:146059041A>G uc003ika.4 - 20 2829 c.2691T>C c.(2689-2691)caT>caC p.H897H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA. 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 3 225 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 608072 608072 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr11:608072G>A uc001lqe.3 + 13 2747 c.2616G>A c.(2614-2616)acG>acA p.T872T PHRF1_uc010qwc.2_Silent_p.T871T|PHRF1_uc010qwd.2_Silent_p.T870T|PHRF1_uc010qwe.2_Silent_p.T868T|PHRF1_uc009ybz.1_Silent_p.T662T|PHRF1_uc009yca.2_Non-coding_Transcript NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 872 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 AGGCCCAGACGGTGCAGGCTG 0.657000 4 204 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23523469 23523469 + Missense_Mutation SNP C C T TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr14:23523469C>T uc001wil.3 - 5 1113 c.853G>A c.(853-855)Gac>Aac p.D285N CDH24_uc010akf.3_Missense_Mutation_p.D285N|CDH24_uc001win.3_Missense_Mutation_p.D285N NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 285 Cadherin 3. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) AGGTCTGGGTCCTGGGCCCGG 0.632000 6 263 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155263298 155263298 + Silent SNP G G A TCGA-DJ-A3UX-01A-11D-A22D-08 TCGA-DJ-A3UX-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx f2f3b1f6-fa92-4a30-a848-9715aac69165 c75cda3d-1d47-44d0-b1fd-f426f9062b15 g.chr1:155263298G>A uc001fkb.4 - 7 1239 c.1200C>T c.(1198-1200)gaC>gaT p.D400D PKLR_uc001fka.4_Silent_p.D369D NM_000298 NP_000289 P30613 KPYR_HUMAN Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 400 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GCATGATGCAGTCAGCCCCAT 0.582000 3 71 0 0 1 0 0