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 TIE1 7075 broad.mit.edu 37 1 43777409 43777409 + Silent SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr1:43777409G>A uc001ciu.2 + 10 1480 c.1401G>A c.(1399-1401)CCG>CCA p.P467P TIE1_uc010okd.1_Silent_p.P467P|TIE1_uc010oke.1_Silent_p.P422P|TIE1_uc009vwq.2_Silent_p.P423P|TIE1_uc010okf.1_Silent_p.P112P|TIE1_uc010okg.1_Silent_p.P112P NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 467 Extracellular (Potential).|Fibronectin type-III 1. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGTCTCCCCGCTGGTCTCGT 0.647 NA 23 60 0 0 0 0 MPL 4352 broad.mit.edu 37 1 43804269 43804269 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr1:43804269G>A uc001ciw.2 + 3 314 c.269G>A c.(268-270)CGA>CAA p.R90Q MPL_uc001civ.2_Missense_Mutation_p.R90Q|MPL_uc009vwr.2_Missense_Mutation_p.R83Q NM_005373 NP_005364 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 90 Extracellular (Potential). cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1) 363 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTTGGAACCCGATACGTGTGC 0.572 NA Mis MPD MPD congenital amegakaryocytic thrombocytopenia 23 84 0 0 0 0 PAQR6 79957 broad.mit.edu 37 1 156214599 156214599 + Missense_Mutation SNP G G T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr1:156214599G>T uc001fnu.1 - 7 783 c.713C>A c.(712-714)GCC>GAC p.A238D PAQR6_uc010phf.1_Intron|PAQR6_uc001fny.1_Missense_Mutation_p.P16T|PAQR6_uc001fnv.1_Missense_Mutation_p.A214D|PAQR6_uc010phg.1_Missense_Mutation_p.A235D|PAQR6_uc001fnx.1_Missense_Mutation_p.A132D|PAQR6_uc001fnw.1_Missense_Mutation_p.A132D|PAQR6_uc001fnz.1_Missense_Mutation_p.A132D|PAQR6_uc010phh.1_Missense_Mutation_p.A238D|PAQR6_uc001foa.1_Missense_Mutation_p.A132D|PAQR6_uc001fob.1_RNA NM_198406 NP_940798 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 238 Helical; (Potential). integral to membrane receptor activity 0 Hepatocellular(266;0.158) CAGGTGGGAGGCGAAGAGGAA 0.672 NA 15 42 0.00400662 0.00425967 1 0 OR2M3 127062 broad.mit.edu 37 1 248366532 248366532 + Missense_Mutation SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr1:248366532C>A uc010pzg.1 + 1 163 c.163C>A c.(163-165)CTC>ATC p.L55I NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGACACCCAGCTCCACACCCC 0.557 NA 114 271 1.55e-57 1.82e-57 1 0 PTCHD3 374308 broad.mit.edu 37 10 27702649 27702649 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr10:27702649C>T uc001itu.2 - 1 649 c.531G>A c.(529-531)CCG>CCA p.P177P NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 177 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CCGCCTTGGCCGGGCTCCCCA 0.637 NA 44 150 0 0 0 0 KNDC1 85442 broad.mit.edu 37 10 135003312 135003312 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr10:135003312G>A uc001llz.1 + 9 1571 c.1570G>A c.(1570-1572)GAA>AAA p.E524K KNDC1_uc001lma.1_Missense_Mutation_p.E459K NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 524 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GCTGGTAACTGAAAAGGTACC 0.493 NA 5 25 0 0 0 0 OR51G1 79324 broad.mit.edu 37 11 4944867 4944867 + Nonsense_Mutation SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:4944867C>A uc010qyr.1 - 1 703 c.703G>T c.(703-705)GAG>TAG p.E235* NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGAGTCGCTCCTGGTGGGAG 0.552 NA 26 68 3.7e-22 4.33e-22 1 0 BTBD10 84280 broad.mit.edu 37 11 13410506 13410506 + Missense_Mutation SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:13410506C>A uc001mkz.2 - 9 1557 c.1300G>T c.(1300-1302)GAC>TAC p.D434Y BTBD10_uc010rcl.1_Missense_Mutation_p.D442Y|BTBD10_uc001mla.2_Missense_Mutation_p.D418Y|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.D386Y NM_032320 NP_115696 Q9BSF8 BTBDA_HUMAN K+ channel tetramerization protein 434 nucleus 0 Epithelial(150;0.0214) TGGGGAATGTCTGCTGCAGCT 0.488 NA 48 77 2.66e-43 3.13e-43 1 0 MS4A15 219995 broad.mit.edu 37 11 60531293 60531293 + Silent SNP G G T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:60531293G>T uc009ynf.1 + 2 307 c.87G>T c.(85-87)CTG>CTT p.L29L MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.L29L NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 29 integral to membrane receptor activity lung(1) 1 CGGCCATTCTGCCCACATCCA 0.617 NA 37 88 1.01e-15 1.18e-15 1 0 SCYL1 57410 broad.mit.edu 37 11 65303482 65303482 + Missense_Mutation SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:65303482C>A uc001oea.1 + 11 1522 c.1445C>A c.(1444-1446)CCG>CAG p.P482Q SCYL1_uc009yqk.2_Missense_Mutation_p.P482Q|SCYL1_uc001oeb.1_Missense_Mutation_p.P482Q|SCYL1_uc001oec.1_Missense_Mutation_p.P482Q|SCYL1_uc001oed.1_Missense_Mutation_p.P339Q|SCYL1_uc001oee.1_Missense_Mutation_p.P126Q NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 482 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 CCGTTTGCACCGTCCCGGGTT 0.597 NA 18 63 4.72e-08 5.37e-08 1 0 RCE1 9986 broad.mit.edu 37 11 66612399 66612399 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:66612399G>A uc001ojk.1 + 5 555 c.511G>A c.(511-513)GCC>ACC p.A171T RCE1_uc001ojl.1_Missense_Mutation_p.A67T NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 171 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 CCAAGTGATCGCCCCGCTGAC 0.632 NA 15 28 0 0 0 0 SYTL2 54843 broad.mit.edu 37 11 85420460 85420460 + Silent SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:85420460A>G uc010rth.1 - 12 2190 c.1914T>C c.(1912-1914)TAT>TAC p.Y638Y SYTL2_uc010rtg.1_Silent_p.Y639Y|SYTL2_uc010rti.1_Silent_p.Y614Y|SYTL2_uc010rtj.1_Silent_p.Y606Y|SYTL2_uc001pav.2_Silent_p.Y80Y|SYTL2_uc010rte.1_Silent_p.Y40Y|SYTL2_uc001pax.2_Silent_p.Y80Y|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Silent_p.Y23Y|SYTL2_uc001pay.2_Silent_p.Y69Y|SYTL2_uc001paw.2_Silent_p.Y40Y|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.Y936Y|SYTL2_uc001pbb.2_Silent_p.Y976Y|SYTL2_uc001pbc.2_Silent_p.Y960Y|SYTL2_uc010rtf.1_Silent_p.Y456Y NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 638 C2 1. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GTGACTCCACATATTCAATTG 0.408 NA 6 121 0 0 0 0 UBE4A 9354 broad.mit.edu 37 11 118263536 118263536 + Silent SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr11:118263536G>A uc001psw.2 + 19 3129 c.3000G>A c.(2998-3000)CTG>CTA p.L1000L UBE4A_uc001psv.2_Silent_p.L1007L NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1000 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGAGCACACTGATGTGTGACC 0.483 NA 56 86 0 0 0 0 MLF2 8079 broad.mit.edu 37 12 6859160 6859160 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr12:6859160C>T uc010sfi.1 - 7 476 c.413G>A c.(412-414)CGG>CAG p.R138Q MLF2_uc001qqp.2_Missense_Mutation_p.R138Q|MLF2_uc009zey.1_Missense_Mutation_p.R138Q NM_005439 NP_005430 Q15773 MLF2_HUMAN myeloid leukemia factor 2 138 defense response cytoplasm|nucleus protein binding large_intestine(1) 1 AACAGTCCTCCGTGTCTCCCG 0.582 NA 15 64 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12334328 12334328 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr12:12334328C>T uc001rah.3 - 6 1164 c.1022G>A c.(1021-1023)CGC>CAC p.R341H BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R341H NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 341 Extracellular (Potential).|Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.R341H(1) lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CAAAGAAATGCGTCTCAAGTC 0.403 NA 34 81 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15699542 15699542 + Missense_Mutation SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr12:15699542C>A uc001rcv.1 + 13 2378 c.2204C>A c.(2203-2205)ACC>AAC p.T735N PTPRO_uc001rcw.1_Missense_Mutation_p.T735N|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 735 Fibronectin type-III 8.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) GTGAACAAAACCCAGACTTCA 0.388 NA 5 21 0.000602214 0.000648786 1 0 KRT83 3889 broad.mit.edu 37 12 52710276 52710276 + Silent SNP G G A rs143467763 byFrequency TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr12:52710276G>A uc001saf.2 - 6 1080 c.1017C>T c.(1015-1017)GCC>GCT p.A339A NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 339 Rod.|Coil 2. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTCCACCTCGGCTGTCAGCC 0.597 NA 33 50 0 0 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122975114 122975114 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr12:122975114C>T uc001ucn.2 - 4 449 c.318G>A c.(316-318)AAG>AAA p.K106K ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 106 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GATGATATTGCCTGTGTAAGA 0.328 NA 5 10 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39265211 39265211 + Missense_Mutation SNP A A T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr13:39265211A>T uc001uwv.2 + 1 4039 c.3730A>T c.(3730-3732)AAT>TAT p.N1244Y NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1244 CSPG 8.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCAGCTGATAAATGGCACGGT 0.438 NA 65 179 0 0 0 0 UCHL3 7347 broad.mit.edu 37 13 76134943 76134943 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr13:76134943A>G uc001vjq.2 + 3 139 c.109A>G c.(109-111)ATG>GTG p.M37V UCHL3_uc001vjr.2_Missense_Mutation_p.M1V NM_006002 NP_005993 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 37 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity 0 GBM - Glioblastoma multiforme(99;0.0125) TGTATATGGAATGGATCCTGA 0.338 NA 25 75 0 0 0 0 CMTM5 116173 broad.mit.edu 37 14 23846483 23846483 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr14:23846483G>A uc010akm.2 + 1 467 c.23G>A c.(22-24)CGG>CAG p.R8Q CMTM5_uc001wjs.2_Missense_Mutation_p.R8Q|CMTM5_uc001wjt.2_Missense_Mutation_p.R8Q|CMTM5_uc010akn.2_Missense_Mutation_p.R8Q|CMTM5_uc001wju.2_Missense_Mutation_p.R8Q|CMTM5_uc010ako.2_RNA NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 8 chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CGAGATCGCCGGGACCGGCAC 0.607 NA 26 77 0 0 0 0 ADAM20 8748 broad.mit.edu 37 14 70989374 70989374 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr14:70989374G>A uc001xme.2 - 2 2496 c.2251C>T c.(2251-2253)CCT>TCT p.P751S NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 701 Helical; (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GCAACCAAAGGAAGAAGGCAC 0.313 NA 36 74 0 0 0 0 BTBD7 55727 broad.mit.edu 37 14 93760396 93760396 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr14:93760396A>G uc001ybo.2 - 3 1296 c.970T>C c.(970-972)TAT>CAT p.Y324H BTBD7_uc010aur.2_5'UTR|BTBD7_uc010two.1_Missense_Mutation_p.Y239H|BTBD7_uc001ybp.2_Intron|BTBD7_uc001ybq.3_Missense_Mutation_p.Y239H|BTBD7_uc001ybr.2_Missense_Mutation_p.Y324H NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 324 BTB 2. pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACTGTTGCATATTTTTTTGGT 0.418 NA 3 69 0 0 0 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr14:105246551C>T uc001ypk.2 - 3 603 c.49G>A c.(49-51)GAG>AAG p.E17K INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(126) breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612 E17K(KU1919_URINARY_TRACT) 1 Mis breast|colorectal|ovarian|NSCLC 8 19 0 0 0 0 OR4N4 283694 broad.mit.edu 37 15 22383350 22383350 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr15:22383350A>G uc001yuc.1 + 7 1859 c.878A>G c.(877-879)GAA>GGA p.E293G LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Missense_Mutation_p.E293G NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CGCAACCAGGAAGTGAAAACT 0.408 NA 16 140 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43821897 43821897 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr15:43821897C>T uc001zrt.2 + 5 8552 c.8085C>T c.(8083-8085)CTC>CTT p.L2695L NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2695 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) ATGTGGATCTCGCCTACATCC 0.517 NA 28 89 0 0 0 0 LPCAT2 54947 broad.mit.edu 37 16 55579722 55579722 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr16:55579722A>G uc002eie.3 + 9 1109 c.928A>G c.(928-930)ATG>GTG p.M310V LPCAT2_uc002eic.2_Missense_Mutation_p.M40V NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 310 Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 CCGGAATTTAATGGCAGAGTA 0.299 NA 7 77 0 0 0 0 SMYD4 114826 broad.mit.edu 37 17 1704289 1704289 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr17:1704289C>T uc002ftm.3 - 5 567 c.399G>A c.(397-399)CAG>CAA p.Q133Q SMYD4_uc002ftn.1_5'UTR NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 133 zinc ion binding skin(3)|kidney(2) 5 ACCCATGTGTCTGTGCTCTGT 0.443 NA 53 155 0 0 0 0 DNAH9 1770 broad.mit.edu 37 17 11778325 11778325 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr17:11778325C>T uc002gne.2 + 53 10370 c.10302C>T c.(10300-10302)GAC>GAT p.D3434D DNAH9_uc010coo.2_Silent_p.D2728D NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3434 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATGATGCTGACGTGGCTGCCT 0.592 NA 35 83 0 0 0 0 SUPT6H 6830 broad.mit.edu 37 17 27015218 27015218 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr17:27015218C>T uc002hby.2 + 24 3206 c.3116C>T c.(3115-3117)ACG>ATG p.T1039M SUPT6H_uc010crt.2_Missense_Mutation_p.T1039M|SUPT6H_uc002hbz.1_5'Flank NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 1039 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) AAGATCGACACGGCCTCCCTG 0.577 NA 54 168 0 0 0 0 KRT13 3860 broad.mit.edu 37 17 39658663 39658663 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr17:39658663C>T uc002hwu.1 - 6 1270 c.1207G>A c.(1207-1209)GCC>ACC p.A403T KRT13_uc002hwv.1_Missense_Mutation_p.A403T|KRT13_uc002hww.2_Missense_Mutation_p.A296T|KRT13_uc010wfr.1_Missense_Mutation_p.A296T|KRT13_uc010cxo.2_Missense_Mutation_p.A403T|KRT13_uc002hwx.1_Missense_Mutation_p.A391T NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 403 Rod.|Coil 2. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) CGGTAGGTGGCGATCTCCTGC 0.562 NA 48 103 0 0 0 0 CBX8 57332 broad.mit.edu 37 17 77769025 77769025 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr17:77769025C>T uc002jxd.1 - 5 672 c.579G>A c.(577-579)GGG>GGA p.G193G NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 193 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCGAGCTGTCCCCCGGTGAGC 0.498 NA 3 19 0 0 0 0 LIPG 9388 broad.mit.edu 37 18 47110036 47110036 + Nonsense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr18:47110036G>A uc002ldv.2 + 8 1520 c.1268G>A c.(1267-1269)TGG>TAG p.W423* LIPG_uc010xdh.1_Nonsense_Mutation_p.W349* NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 423 PLAT. cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 TCTCAGTCTTGGTACAACCTG 0.582 NA 24 73 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302992 15302992 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr19:15302992C>T uc002nan.2 - 4 534 c.458G>A c.(457-459)CGC>CAC p.R153H NOTCH3_uc002nao.1_Missense_Mutation_p.R153H NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 153 Extracellular (Potential).|EGF-like 3. Missing (in CADASIL).|R -> C (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TCGGCAGCTGCGGCCCTGGTA 0.687 NA 12 23 0 0 0 0 ZNF845 91664 broad.mit.edu 37 19 53854765 53854765 + Silent SNP C C A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr19:53854765C>A uc010ydv.1 + 4 954 c.837C>A c.(835-837)ACC>ACA p.T279T ZNF845_uc010ydw.1_Silent_p.T279T NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 279 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGGCAAGACCTTCAGTCAGG 0.423 NA 18 58 2.49e-13 2.89e-13 1 0 C2orf16 84226 broad.mit.edu 37 2 27804538 27804538 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:27804538G>A uc002rkz.3 + 1 5150 c.5099G>A c.(5098-5100)AGG>AAG p.R1700K ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1700 9.|27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCCTCTCAGAGGAGCCATCGT 0.587 NA 8 237 0 0 0 0 RMND5A 64795 broad.mit.edu 37 2 86947840 86947840 + Missense_Mutation SNP A A T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:86947840A>T uc010ytm.1 + 1 427 c.50A>T c.(49-51)AAG>ATG p.K17M RMND5A_uc002srs.3_Translation_Start_Site|VPS24_uc010ytl.1_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.K17M NM_022780 NP_073617 Q9H871 RMD5A_HUMAN required for meiotic nuclear division 5 homolog 17 ovary(1)|skin(1) 2 GTGCTGCACAAGTTCTCAGGC 0.687 NA 4 1 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175049 125175049 + Missense_Mutation SNP C C G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:125175049C>G uc002tno.2 + 4 775 c.411C>G c.(409-411)AGC>AGG p.S137R CNTNAP5_uc010flu.2_Missense_Mutation_p.S137R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 137 F5/8 type C.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ATGCTGACAGCGTGGTGCACC 0.488 NA 11 25 0 0 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204332 125204332 + Missense_Mutation SNP G G T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:125204332G>T uc002tno.2 + 6 1100 c.736G>T c.(736-738)GAC>TAC p.D246Y CNTNAP5_uc010flu.2_Missense_Mutation_p.D246Y NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 246 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTTCACAGGTGACAGCAAAGC 0.567 NA 15 53 1.68e-08 1.92e-08 1 0 LRP1B 53353 broad.mit.edu 37 2 141598619 141598619 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:141598619C>T uc002tvj.1 - 30 5954 c.4982G>A c.(4981-4983)CGT>CAT p.R1661H NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1661 Extracellular (Potential).|LDL-receptor class B 15. 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) GTATAAATTACGTGACACCCA 0.373 NA TSP Lung(27;0.18) 24 80 0 0 0 0 TMEM198 130612 broad.mit.edu 37 2 220412472 220412472 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr2:220412472C>T uc002vme.2 + 4 996 c.411C>T c.(409-411)TCC>TCT p.S137S TMEM198_uc002vmf.2_Silent_p.S137S NM_001005209 NP_001005209 Q66K66 TM198_HUMAN transmembrane protein 198 137 Leu-rich. integral to membrane ovary(1) 1 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) TGCTGGGCTCCGCACCCTACT 0.716 NA 12 32 0 0 0 0 TGM3 7053 broad.mit.edu 37 20 2297758 2297758 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr20:2297758C>T uc002wfx.3 + 6 811 c.714C>T c.(712-714)AGC>AGT p.S238S NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 238 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GGAATTGGAGCGGCACTTACA 0.532 NA 32 91 0 0 0 0 PRPF6 24148 broad.mit.edu 37 20 62631039 62631039 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr20:62631039G>A uc002yho.2 + 8 1118 c.950G>A c.(949-951)CGC>CAC p.R317H PRPF6_uc002yhp.2_Missense_Mutation_p.R317H NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 317 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GCATCAGCCCGCCTGGAAGAA 0.557 NA 20 28 0 0 0 0 ELFN2 114794 broad.mit.edu 37 22 37769728 37769728 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr22:37769728C>T uc003asq.3 - 3 2633 c.1847G>A c.(1846-1848)CGC>CAC p.R616H NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 616 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GCTCAGCTGGCGCTGTAGTGG 0.682 NA 7 8 0 0 0 0 MORC1 27136 broad.mit.edu 37 3 108773723 108773723 + Silent SNP G G A rs7631480 byFrequency TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr3:108773723G>A uc003dxl.2 - 14 1269 c.1182C>T c.(1180-1182)GGC>GGT p.G394G MORC1_uc011bhn.1_Silent_p.G394G NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 394 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.G394G(1) ovary(3)|skin(3)|breast(2) 8 CCACGCCTGCGCCAAGTCTGA 0.303 NA 22 57 0 0 0 0 XRN1 54464 broad.mit.edu 37 3 142103391 142103391 + Missense_Mutation SNP G G T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr3:142103391G>T uc003eus.2 - 21 2543 c.2476C>A c.(2476-2478)CCT>ACT p.P826T XRN1_uc010huu.2_Missense_Mutation_p.P292T|XRN1_uc003eut.2_Missense_Mutation_p.P826T|XRN1_uc003euu.2_Missense_Mutation_p.P826T|XRN1_uc003euv.1_Missense_Mutation_p.P687T NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 826 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 TAAACAAAAGGAACAACTTGT 0.308 NA 26 89 1.85e-09 2.12e-09 1 0 TBC1D1 23216 broad.mit.edu 37 4 38023338 38023338 + Missense_Mutation SNP G G C TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr4:38023338G>C uc003gtb.2 + 6 1552 c.1209G>C c.(1207-1209)GAG>GAC p.E403D TBC1D1_uc011byd.1_Missense_Mutation_p.E403D|TBC1D1_uc010ifd.2_Missense_Mutation_p.E150D|TBC1D1_uc011byf.1_Missense_Mutation_p.E274D NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 403 PID. nucleus Rab GTPase activator activity ovary(1) 1 AGAGGATAGAGGGTGAGTAGG 0.552 NA 3 20 0 0 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95155227 95155227 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr4:95155227C>T uc003htc.3 + 4 746 c.491C>T c.(490-492)ACT>ATT p.T164I SMARCAD1_uc003htb.3_Missense_Mutation_p.T164I|SMARCAD1_uc003htd.3_Missense_Mutation_p.T164I|SMARCAD1_uc010ila.2_Missense_Mutation_p.T27I NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 164 CUE 1. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) aaacttcagactttgaaggaa 0.144 NA 19 29 0 0 0 0 ADH4 127 broad.mit.edu 37 4 100062705 100062705 + Silent SNP G G T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr4:100062705G>T uc003hun.2 - 3 325 c.249C>A c.(247-249)ACC>ACA p.T83T uc003hum.1_Intron|ADH4_uc011ced.1_Silent_p.T102T NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 83 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GTTTGACGTTGGTCACTCCTG 0.398 NA 21 42 0.00395357 0.00421436 1 0 BRD9 65980 broad.mit.edu 37 5 878568 878568 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr5:878568C>T uc003jbq.2 - 11 1340 c.1173G>A c.(1171-1173)TCG>TCA p.S391S BRD9_uc003jbl.2_Silent_p.S275S|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Silent_p.S338S|BRD9_uc003jbo.2_Silent_p.S295S|BRD9_uc003jbp.2_Silent_p.S52S|BRD9_uc011cmc.1_RNA NM_023924 NP_076413 Q9H8M2 BRD9_HUMAN bromodomain containing 9 isoform 1 391 nucleic acid binding 0 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) TATTCTGCATCGAAAGCGCAG 0.567 NA 9 124 0 0 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549375 33549375 + Silent SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr5:33549375G>A uc003jia.1 - 21 4402 c.4239C>T c.(4237-4239)CCC>CCT p.P1413P ADAMTS12_uc010iuq.1_Silent_p.P1328P NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1413 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TGCTCAATGGGGGAGGAATGC 0.612 NA HNSCC(64;0.19) 24 59 0 0 0 0 RAI14 26064 broad.mit.edu 37 5 34824125 34824125 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr5:34824125C>T uc003jir.2 + 15 2374 c.2178C>T c.(2176-2178)AAC>AAT p.N726N RAI14_uc010iur.2_Silent_p.N697N|RAI14_uc011coj.1_Silent_p.N726N|RAI14_uc003jis.2_Silent_p.N729N|RAI14_uc003jit.2_Silent_p.N726N|RAI14_uc011cok.1_Silent_p.N718N NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 726 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) AAAAAGAGAACTCTGTCTCTA 0.408 NA 25 33 0 0 0 0 GPRIN1 114787 broad.mit.edu 37 5 176024594 176024594 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr5:176024594C>T uc003meo.1 - 2 2417 c.2242G>A c.(2242-2244)GTG>ATG p.V748M NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 748 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCGGCTCCACGCGGCCTTCA 0.687 NA 7 19 0 0 0 0 CCHCR1 54535 broad.mit.edu 37 6 31112526 31112526 + Missense_Mutation SNP C C T rs111409280 TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:31112526C>T uc003nsr.3 - 15 1961 c.1838G>A c.(1837-1839)CGG>CAG p.R613Q CCHCR1_uc011dne.1_Missense_Mutation_p.R613Q|CCHCR1_uc003nsq.3_Missense_Mutation_p.R666Q|CCHCR1_uc003nsp.3_Missense_Mutation_p.R702Q|CCHCR1_uc010jsk.1_Missense_Mutation_p.R645Q NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 613 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 GAGTTGCTCCCGCAGCCGAGT 0.597 NA 53 106 0 0 0 0 PHIP 55023 broad.mit.edu 37 6 79697996 79697996 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:79697996C>T uc003pir.2 - 21 2616 c.2390G>A c.(2389-2391)CGT>CAT p.R797H PHIP_uc011dyp.1_Missense_Mutation_p.R796H NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 797 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AGATCTTGTACGATAATTGTG 0.338 NA 5 101 0 0 0 0 FOXO3 2309 broad.mit.edu 37 6 108984910 108984910 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:108984910C>T uc003psk.2 + 3 1190 c.874C>T c.(874-876)CCT>TCT p.P292S FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.P292S|FOXO3_uc011ean.1_Missense_Mutation_p.P72S|FOXO3_uc010kdj.1_Missense_Mutation_p.P72S NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 292 PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860). antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) CTCCAAGTGGCCTGGCAGCCC 0.622 NA 4 32 0 0 0 0 IFNGR1 3459 broad.mit.edu 37 6 137527279 137527279 + Nonsense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:137527279G>A uc003qho.2 - 3 470 c.367C>T c.(367-369)CGA>TGA p.R123* IFNGR1_uc011edm.1_Nonsense_Mutation_p.R95*|IFNGR1_uc011edn.1_Nonsense_Mutation_p.R113* NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 123 Extracellular (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) TCACCATCTCGGCATACAGCA 0.348 NA 7 118 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152763322 152763322 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:152763322G>A uc010kiw.2 - 31 4498 c.3896C>T c.(3895-3897)GCG>GTG p.A1299V SYNE1_uc003qot.3_Missense_Mutation_p.A1306V|SYNE1_uc003qou.3_Missense_Mutation_p.A1299V|SYNE1_uc010kjb.1_Missense_Mutation_p.A1282V|SYNE1_uc003qow.2_Missense_Mutation_p.A594V|SYNE1_uc003qox.1_Missense_Mutation_p.A815V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1299 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCCTGCTGCGCCTGCGCGAT 0.567 NA HNSCC(10;0.0054) 22 91 0 0 0 0 C7orf57 136288 broad.mit.edu 37 7 48081064 48081064 + Missense_Mutation SNP A A G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr7:48081064A>G uc003toh.3 + 3 401 c.189A>G c.(187-189)ATA>ATG p.I63M C7orf57_uc003toi.3_Translation_Start_Site NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 63 ovary(1) 1 GATACTGGATAAAAGAAACAG 0.592 NA 13 18 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103214639 103214639 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr7:103214639C>T uc003vca.2 - 30 4571 c.4411G>A c.(4411-4413)GGA>AGA p.G1471R RELN_uc010liz.2_Missense_Mutation_p.G1471R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1471 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGCCAGTTCCAACCTGGGCA 0.512 NA 8 123 0 0 0 0 EPHB6 2051 broad.mit.edu 37 7 142563798 142563798 + Missense_Mutation SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr7:142563798G>A uc011kst.1 + 9 1973 c.1186G>A c.(1186-1188)GGG>AGG p.G396R EPHB6_uc011ksu.1_Missense_Mutation_p.G396R|EPHB6_uc003wbs.2_Missense_Mutation_p.G104R|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.G104R|EPHB6_uc003wbv.2_5'Flank NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 396 Extracellular (Potential).|Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) TCGGGAGCTGGGGGGTCGAGG 0.652 NA 7 19 0 0 0 0 HR 55806 broad.mit.edu 37 8 21973915 21973915 + Silent SNP G G A TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr8:21973915G>A uc003xas.2 - 18 4070 c.3405C>T c.(3403-3405)AGC>AGT p.S1135S HR_uc003xat.2_Silent_p.S1080S NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1135 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCTGAGTGACGCTGACTGTGC 0.627 NA 9 26 0 0 0 0 KLF10 7071 broad.mit.edu 37 8 103664557 103664557 + Silent SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr8:103664557C>T uc011lhk.1 - 2 259 c.105G>A c.(103-105)GAG>GAA p.E35E KLF10_uc011lhj.1_Silent_p.E24E NM_005655 NP_005646 Q13118 KLF10_HUMAN Kruppel-like factor 10 isoform a 35 cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169) OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826) AATCACTTTTCTCTGCAGTTT 0.358 NA 53 130 0 0 0 0 GRIN1 2902 broad.mit.edu 37 9 140058119 140058119 + Silent SNP C C G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr9:140058119C>G uc004clk.2 + 17 2772 c.2442C>G c.(2440-2442)GCC>GCG p.A814A GRIN1_uc004cli.1_Silent_p.A489A|GRIN1_uc004clj.1_Silent_p.A811A|GRIN1_uc004cll.2_Silent_p.A814A|GRIN1_uc004clm.2_Silent_p.A814A|GRIN1_uc004cln.2_Silent_p.A832A|GRIN1_uc004clo.2_Silent_p.A832A NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 814 Helical; (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) AGAACATGGCCGGTGCGTTCT 0.597 NA 13 40 0 0 0 0 ASMT 438 broad.mit.edu 37 X 1755398 1755398 + Missense_Mutation SNP G G C TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chrX:1755398G>C uc004cqd.2 + 9 1000 c.855G>C c.(853-855)TGG>TGC p.W285C ASMT_uc010ncy.2_Missense_Mutation_p.W285C|ASMT_uc004cqe.2_Missense_Mutation_p.W210C NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 257 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 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) TCCATGACTGGGCAGACGGAA 0.567 NA 56 143 0 0 0 0 ARMCX5 64860 broad.mit.edu 37 X 101857876 101857876 + Silent SNP T T G TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chrX:101857876T>G uc004ejg.2 + 6 1688 c.807T>G c.(805-807)CCT>CCG p.P269P ARMCX5_uc004ejh.2_Silent_p.P269P NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 269 binding ovary(1) 1 AGATCCCACCTTATCATGGGC 0.488 NA 45 42 0 0 0 0 MYO9A 4649 broad.mit.edu 37 15 72186069 72186071 + In_Frame_Del DEL TCT TCT - rs150726107 byFrequency TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr15:72186069_72186071delTCT uc002atl.3 - 26 5564_5566 c.5091_5093delAGA c.(5089-5094)GAAGAT>GAT p.E1697del MYO9A_uc002atn.1_In_Frame_Del_p.E1678del|MYO9A_uc002atk.2_In_Frame_Del_p.E421del|MYO9A_uc002atm.1_In_Frame_Del_p.E421del NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1697 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TGCTGGTTCATCTTCTTTATGGA 0.355 NA 20 55 --- --- --- --- NA NA NA NA SLC22A16 85413 broad.mit.edu 37 6 110763501 110763509 + In_Frame_Del DEL AAAACGAGT AAAACGAGT - rs149948718 by1000genomes TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9d279797-4464-4ef5-8858-640978ccc258 a5384389-3040-4d43-be4e-4794a870ce18 g.chr6:110763501_110763509delAAAACGAGT uc003puf.2 - 4 1188_1196 c.1121_1129delACTCGTTTT c.(1120-1131)TACTCGTTTTCC>TCC p.YSF374del SLC22A16_uc003pue.2_In_Frame_Del_p.YSF355del NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 374_376 Helical; (Potential). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GAATTCAAGGAAAACGAGTAGAATCCCAA 0.378 NA 13 76 --- --- --- --- NA NA NA NA