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 NPHP4 261734 broad.mit.edu 37 1 6038470 6038470 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:6038470C>T uc001alq.1 - 3 405 c.139G>A c.(139-141)GTG>ATG p.V47M NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_Intron NM_015102 NP_055917 O75161 NPHP4_HUMAN nephroretinin 47 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity pancreas(1) 1 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ACCTCCAGCACGCCCTAGGAG 0.557 NA 3 16 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16475542 16475542 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:16475542A>C uc001aya.1 - 3 291 c.154T>G c.(154-156)TGG>GGG p.W52G EPHA2_uc010oca.1_Missense_Mutation_p.W52G NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 52 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ATCAGGTCCCACTGTGGGGGG 0.557 NA 11 58 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79383352 79383352 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:79383352C>A uc001diq.3 - 12 1872 c.1716G>T c.(1714-1716)TGG>TGT p.W572C NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 572 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTATAAAACTCCAAATAAAGT 0.279 NA 10 46 3.86e-05 4.21e-05 1 0 STXBP3 6814 broad.mit.edu 37 1 109295688 109295688 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:109295688A>T uc001dvy.2 + 3 178 c.103A>T c.(103-105)ATG>TTG p.M35L STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 35 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TTTTAAGATAATGCTTTTAGA 0.289 NA 36 110 0 0 0 0 NME7 29922 broad.mit.edu 37 1 169200035 169200035 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:169200035G>C uc001gfu.2 - 10 1149 c.911C>G c.(910-912)TCT>TGT p.S304C NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.S268C NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 304 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) ACAAGGGCCAGAATACATTTC 0.259 NA 29 54 0 0 0 0 KCNT2 343450 broad.mit.edu 37 1 196205130 196205130 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:196205130C>T uc001gtd.1 - 27 3342 c.3282G>A c.(3280-3282)GAG>GAA p.E1094E KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.E1027E|KCNT2_uc001gtf.1_Silent_p.E1070E|KCNT2_uc001gtg.1_RNA NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1094 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CATCATTCAGCTCTATTCTGG 0.313 NA 89 298 0 0 0 0 MARK1 4139 broad.mit.edu 37 1 220825399 220825399 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:220825399G>T uc001hmn.3 + 15 2240 c.1643G>T c.(1642-1644)CGA>CTA p.R548L MARK1_uc009xdw.2_Missense_Mutation_p.R548L|MARK1_uc010pun.1_Missense_Mutation_p.R548L|MARK1_uc001hmm.3_Missense_Mutation_p.R526L NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 548 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) CCCTCAGCACGACCCCGCCAC 0.512 NA 20 116 0.00152264 0.00161374 1 0 C1orf124 83932 broad.mit.edu 37 1 231488769 231488769 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:231488769T>C uc001hur.2 + 5 1580 c.1132T>C c.(1132-1134)TCC>CCC p.S378P C1orf124_uc001hus.2_3'UTR|C1orf124_uc001hut.2_3'UTR NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 378 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TTCTAAGATATCCCTAAGAAA 0.418 NA 25 77 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237870464 237870464 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:237870464A>T uc001hyl.1 + 68 9916 c.9796A>T c.(9796-9798)ACA>TCA p.T3266S RYR2_uc010pxz.1_Missense_Mutation_p.T221S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3266 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATGTGCTGCACAGCCCTGAA 0.478 NA 11 60 0 0 0 0 RASSF4 83937 broad.mit.edu 37 10 45480280 45480280 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:45480280G>A uc001jbo.2 + 6 527 c.393G>A c.(391-393)GAG>GAA p.E131E RASSF4_uc001jbp.2_Silent_p.E162E|RASSF4_uc009xmn.2_Silent_p.E61E|RASSF4_uc001jbq.2_Silent_p.E28E|RASSF4_uc001jbt.2_Silent_p.E88E NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 131 cell cycle|signal transduction protein binding large_intestine(1) 1 AGGAGGCAGAGGAGGCCCCCC 0.667 NA 26 205 0 0 0 0 ANUBL1 93550 broad.mit.edu 37 10 46121636 46121636 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:46121636C>T uc001jcp.3 - 7 1877 c.1635G>A c.(1633-1635)GAG>GAA p.E545E ANUBL1_uc001jcl.3_Silent_p.E65E|ANUBL1_uc001jcm.3_Silent_p.E545E|ANUBL1_uc009xmu.2_Silent_p.E471E|ANUBL1_uc001jcn.3_Silent_p.E471E|ANUBL1_uc001jco.3_Intron NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog 545 zinc ion binding 0 TATCCCGAGCCTCAACTTTGG 0.398 NA 45 165 0 0 0 0 BICC1 80114 broad.mit.edu 37 10 60546842 60546842 + Splice_Site SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:60546842G>C uc001jki.1 + 5 546 c.546_splice c.e5+1 p.Q182_splice NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AAGCAACCAGGTGGTTTGTCT 0.353 NA 5 72 0 0 0 0 BTAF1 9044 broad.mit.edu 37 10 93748998 93748998 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr10:93748998C>A uc001khr.2 + 20 2613 c.2515C>A c.(2515-2517)CAA>AAA p.Q839K BTAF1_uc001khs.1_Missense_Mutation_p.Q509K|BTAF1_uc001kht.1_Missense_Mutation_p.Q277K NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 839 HEAT 5. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ACAGCAGGTCCAAATGACAGT 0.418 NA 10 78 7.48e-07 8.51e-07 1 0 OR52E4 390081 broad.mit.edu 37 11 5905705 5905705 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:5905705G>T uc010qzs.1 + 1 183 c.183G>T c.(181-183)ATG>ATT p.M61I TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGCCCATGTTCTACTTCC 0.433 NA 71 251 4.99e-31 6.49e-31 1 0 CALCA 796 broad.mit.edu 37 11 14989331 14989331 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:14989331G>T uc001mlt.1 - 4 372 c.297C>A c.(295-297)AGC>AGA p.S99R CALCA_uc001mlu.1_RNA NM_001033953 NP_001029125 P06881 CALCA_HUMAN calcitonin isoform CGRP preproprotein 99 activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation cytosol|extracellular space hormone activity central_nervous_system(1) 1 Phentolamine(DB00692) CCCCTGATCTGCTCAGCAAGC 0.542 NA 27 81 3.01e-09 3.52e-09 1 0 DEPDC7 91614 broad.mit.edu 37 11 33054967 33054967 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:33054967A>T uc001mub.2 + 9 1594 c.1502A>T c.(1501-1503)CAC>CTC p.H501L DEPDC7_uc001muc.2_Missense_Mutation_p.H492L NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 501 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 TATAAGTGTCACCCAGACATC 0.299 NA 35 108 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40135934 40135934 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:40135934C>G uc001mxa.1 - 2 3873 c.1909G>C c.(1909-1911)GAG>CAG p.E637Q LRRC4C_uc001mxc.1_Missense_Mutation_p.E633Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.E633Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.E633Q NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 637 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) ATTTGAGTCTCTTGTACATTG 0.259 NA 18 97 0 0 0 0 SLC43A3 29015 broad.mit.edu 37 11 57176684 57176684 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:57176684G>A uc001nkg.2 - 13 1745 c.1335C>T c.(1333-1335)ACC>ACT p.T445T PRG2_uc001nke.2_Intron|SLC43A3_uc001nkh.2_Silent_p.T445T|SLC43A3_uc010rjr.1_Silent_p.T458T|SLC43A3_uc009yme.2_Silent_p.T445T|SLC43A3_uc001nki.2_Silent_p.T445T NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 445 Helical; (Potential). transmembrane transport integral to membrane central_nervous_system(1) 1 CTTTGATGAGGGTGAAGATGG 0.567 NA 45 168 0 0 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185480 71185480 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:71185480G>T uc001oqn.2 + 9 832 c.706G>T c.(706-708)GAC>TAC p.D236Y NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 236 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAAGGGTTGTGACGGGGACCG 0.557 NA 18 132 5.46e-16 6.72e-16 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715080 92715080 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:92715080C>T uc001pdk.1 + 2 794 c.691C>T c.(691-693)CGC>TGC p.R231C NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 231 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) GCTTCAGGCCCGCAGGAAAGC 0.582 NA 21 127 0 0 0 0 BCL9L 283149 broad.mit.edu 37 11 118779003 118779003 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:118779003G>A uc001pug.2 - 2 1353 c.388C>T c.(388-390)CCA>TCA p.P130S BCL9L_uc009zal.2_Missense_Mutation_p.P125S NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 130 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCCAGGGATGGGGTCCCAGCC 0.592 NA 21 98 0 0 0 0 OR8D4 338662 broad.mit.edu 37 11 123777296 123777296 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:123777296G>A uc010saa.1 + 1 158 c.158G>A c.(157-159)CGT>CAT p.R53H NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) AGGCTGAATCGTCAACTTCAT 0.408 NA 58 282 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133815961 133815961 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:133815961T>A uc001qgx.3 - 2 488 c.257A>T c.(256-258)TAT>TTT p.Y86F IGSF9B_uc001qgz.2_RNA NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 86 Extracellular (Potential).|Ig-like 1. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CTTACCTGCATACTCAGGGTC 0.612 NA 4 9 0 0 0 0 SLC6A12 6539 broad.mit.edu 37 12 306025 306025 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:306025A>C uc001qhz.2 - 12 1642 c.1099T>G c.(1099-1101)TTC>GTC p.F367V SLC6A12_uc001qhx.2_Missense_Mutation_p.F24V|SLC6A12_uc001qhy.2_Intron|SLC6A12_uc001qia.2_Missense_Mutation_p.F367V|SLC6A12_uc001qib.2_Missense_Mutation_p.F367V|SLC6A12_uc009zdh.1_Missense_Mutation_p.F367V NM_003044 NP_003035 P48065 S6A12_HUMAN solute carrier family 6 (neurotransmitter 367 cellular nitrogen compound metabolic process|neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00227) GCCTTGGGGAAGGCGATGAAG 0.582 NA 14 73 0 0 0 0 A2M 2 broad.mit.edu 37 12 9256907 9256907 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:9256907G>A uc001qvk.1 - 11 1307 c.1194C>T c.(1192-1194)ACC>ACT p.T398T A2M_uc009zgk.1_Silent_p.T248T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 398 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCTCATCCGTGGTAGCATTGG 0.413 NA 8 31 0 0 0 0 ARID2 196528 broad.mit.edu 37 12 46244170 46244170 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:46244170C>T uc001ros.1 + 15 2264 c.2264C>T c.(2263-2265)ACA>ATA p.T755I ARID2_uc001ror.2_Missense_Mutation_p.T755I|ARID2_uc009zkg.1_Missense_Mutation_p.T211I|ARID2_uc009zkh.1_Missense_Mutation_p.T382I|ARID2_uc001rou.1_Missense_Mutation_p.T89I NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 755 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CAACCTGTTACAGTTGTGAAT 0.478 NA 20 87 0 0 0 0 LRIG3 121227 broad.mit.edu 37 12 59274631 59274631 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:59274631T>C uc001sqr.2 - 13 1779 c.1533A>G c.(1531-1533)ATA>ATG p.I511M LRIG3_uc009zqh.2_Missense_Mutation_p.I451M|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 511 Ig-like C2-type 1. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TGGAACCTTTTATTGCCGACT 0.433 NA 69 196 0 0 0 0 TRHDE 29953 broad.mit.edu 37 12 73014920 73014920 + Silent SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:73014920T>C uc001sxa.2 + 14 2397 c.2367T>C c.(2365-2367)TAT>TAC p.Y789Y NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 789 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 CAACAACATATATCAAGCTTG 0.313 NA 25 82 0 0 0 0 TCP11L2 255394 broad.mit.edu 37 12 106717343 106717343 + Missense_Mutation SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:106717343A>G uc001tln.2 + 6 865 c.691A>G c.(691-693)ATG>GTG p.M231V TCP11L2_uc001tll.2_Missense_Mutation_p.M231V|TCP11L2_uc001tlm.2_Missense_Mutation_p.M231V NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 231 ovary(3) 3 TTTTACAATTATGAGTCTCAG 0.363 NA 15 79 0 0 0 0 C12orf51 283450 broad.mit.edu 37 12 112617111 112617111 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr12:112617111G>A uc009zwc.2 - 56 9830 c.9812C>T c.(9811-9813)GCG>GTG p.A3271V NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GATGGGCTTCGCTGGTGTCAG 0.547 NA 7 29 0 0 0 0 TRPC4 7223 broad.mit.edu 37 13 38266248 38266248 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr13:38266248C>G uc001uws.2 - 4 1357 c.1122G>C c.(1120-1122)TTG>TTC p.L374F TRPC4_uc010abv.2_Intron|TRPC4_uc001uwt.2_Missense_Mutation_p.L374F|TRPC4_uc010tey.1_Missense_Mutation_p.L374F|TRPC4_uc010abw.2_Missense_Mutation_p.L201F|TRPC4_uc010abx.2_Missense_Mutation_p.L374F|TRPC4_uc010aby.2_Missense_Mutation_p.L374F NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 374 Helical; (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ACAAAAAAGTCAAATAGGAGG 0.483 NA 18 65 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101763549 101763549 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr13:101763549C>T uc001vox.1 - 19 2410 c.2221G>A c.(2221-2223)GGA>AGA p.G741R NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 741 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCAAATGATCCGCTCAGCATG 0.493 NA 69 201 0 0 0 0 KLHL28 54813 broad.mit.edu 37 14 45403630 45403630 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr14:45403630C>A uc001wvq.2 - 3 1277 c.1031G>T c.(1030-1032)CGT>CTT p.R344L KLHL28_uc001wvr.2_Missense_Mutation_p.R344L NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 344 Kelch 2. ovary(1) 1 GACGCCAGGACGCACATTAGT 0.393 NA 74 98 2.1e-26 2.72e-26 1 0 MDGA2 161357 broad.mit.edu 37 14 47426789 47426789 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr14:47426789A>C uc001wwj.3 - 9 1866 c.1670T>G c.(1669-1671)GTC>GGC p.V557G MDGA2_uc001wwi.3_Missense_Mutation_p.V328G|MDGA2_uc010ani.2_Missense_Mutation_p.V117G NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 557 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 ACTCATAGTGACACTTCGATC 0.458 NA 28 118 0 0 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890513 23890513 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:23890513T>A uc001ywj.3 - 1 663 c.568A>T c.(568-570)ACC>TCC p.T190S NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AACTGGGAGGTAGCTGGGAAG 0.582 NA 19 79 0 0 0 0 MYO5A 4644 broad.mit.edu 37 15 52672048 52672048 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:52672048G>A uc002aby.2 - 17 2314 c.2070C>T c.(2068-2070)ATC>ATT p.I690I MYO5A_uc002abx.3_Silent_p.I690I|MYO5A_uc010uge.1_Silent_p.I559I NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 690 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CACTGATTCGGATGGTTTCCA 0.473 NA 43 190 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54919300 54919300 + Nonsense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:54919300G>T uc002ack.2 + 31 6634 c.6634G>T c.(6634-6636)GAG>TAG p.E2212* UNC13C_uc002acm.2_Nonsense_Mutation_p.E133* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 2212 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATCTACTGAAGAGAGTGCTTG 0.353 NA 12 28 1.09e-07 1.25e-07 1 0 VPS33B 26276 broad.mit.edu 37 15 91557072 91557072 + Nonsense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr15:91557072G>A uc002bqp.1 - 5 673 c.319C>T c.(319-321)CGA>TGA p.R107* VPS33B_uc002bqq.1_Nonsense_Mutation_p.R16*|VPS33B_uc010uqu.1_Nonsense_Mutation_p.R80* NM_018668 NP_061138 Q9H267 VP33B_HUMAN vacuolar protein sorting 33B (yeast homolog)) 107 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding ovary(2) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) TTGCGAGTTCGGCCAGCCAAT 0.493 NA 40 146 0 0 0 0 SOLH 6650 broad.mit.edu 37 16 602492 602492 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:602492A>T uc002chi.2 + 11 3062 c.2699A>T c.(2698-2700)CAC>CTC p.H900L SOLH_uc002chj.2_5'UTR NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 900 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) GCCTTCAACCACTGGGGGCCG 0.706 NA 8 24 0 0 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554262 20554262 + Missense_Mutation SNP T T G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:20554262T>G uc002dhj.3 - 13 1693 c.1483A>C c.(1483-1485)AGC>CGC p.S495R ACSM2B_uc002dhk.3_Missense_Mutation_p.S495R|ACSM2B_uc010bwf.1_Missense_Mutation_p.S495R NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 495 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TCTGGGCTGCTGATCACAGCC 0.483 NA 18 92 0 0 0 0 ZNF423 23090 broad.mit.edu 37 16 49671562 49671562 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:49671562C>T uc002efs.2 - 5 1799 c.1501G>A c.(1501-1503)GTC>ATC p.V501I ZNF423_uc010vgn.1_Missense_Mutation_p.V384I NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 501 C2H2-type 11. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CAGTGGGAGACGCGGATGTGC 0.562 NA 6 75 0 0 0 0 LPCAT2 54947 broad.mit.edu 37 16 55583314 55583314 + Missense_Mutation SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:55583314A>G uc002eie.3 + 10 1242 c.1061A>G c.(1060-1062)AAA>AGA p.K354R LPCAT2_uc002eic.2_Missense_Mutation_p.K84R NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 354 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 CGAAAATTGAAGTAAGTGTAT 0.363 NA 26 99 0 0 0 0 EDC4 23644 broad.mit.edu 37 16 67911296 67911296 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:67911296A>T uc002eur.2 + 5 794 c.628A>T c.(628-630)AAT>TAT p.N210Y EDC4_uc010cer.2_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.N142Y|EDC4_uc010ces.1_Missense_Mutation_p.N53Y|EDC4_uc002eus.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 210 WD 1. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCTCTGGTTAATGGCAAAAT 0.567 NA 25 65 0 0 0 0 FOXC2 2303 broad.mit.edu 37 16 86601397 86601397 + Silent SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr16:86601397C>A uc002fjq.2 + 1 541 c.456C>A c.(454-456)TCC>TCA p.S152S NM_005251 NP_005242 Q99958 FOXC2_HUMAN forkhead box C2 152 Fork-head. anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding 0 ACCCGGACTCCTACAACATGT 0.627 NA Late-onset_Hereditary_Lymphedema 30 98 1.75e-11 2.09e-11 1 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Silent SNP C C T rs11575996 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:7576853C>T uc002gim.2 - 9 1187 c.993G>A c.(991-993)CAG>CAA p.Q331Q TP53_uc002gig.1_Intron|TP53_uc002gih.2_Silent_p.Q331Q|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Silent_p.Q199Q|TP53_uc010cng.1_Silent_p.Q199Q|TP53_uc002gii.1_Silent_p.Q199Q|TP53_uc010cnh.1_Silent_p.Q331Q|TP53_uc010cni.1_Silent_p.Q331Q|TP53_uc002gij.2_Silent_p.Q331Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 331 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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) GACTTAGTACCTGAAGGGTGA 0.453 111 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) 56 79 0 0 0 0 KDM6B 23135 broad.mit.edu 37 17 7755572 7755572 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:7755572G>A uc002giw.1 + 19 4762 c.4386G>A c.(4384-4386)GTG>GTA p.V1462V KDM6B_uc002gix.2_Silent_p.V764V|TMEM88_uc002giy.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1462 JmjC. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 GAGACCTCGTGTGGATTAATG 0.607 NA OREG0024145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 106 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7801355 7801355 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:7801355G>T uc002gje.2 + 12 2136 c.1986G>T c.(1984-1986)ACG>ACT p.T662T CHD3_uc002gjd.2_Silent_p.T721T|CHD3_uc002gjf.2_Silent_p.T662T|CHD3_uc002gjg.1_Silent_p.T490T NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 662 Chromo 2. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) ACCAGTCCACGTGGGAGGAAG 0.483 NA 31 169 3.18e-06 3.58e-06 1 0 PIK3R5 23533 broad.mit.edu 37 17 8792082 8792082 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:8792082G>A uc002glt.2 - 10 1089 c.1022C>T c.(1021-1023)GCC>GTC p.A341V PIK3R5_uc010vuz.1_Missense_Mutation_p.A341V|PIK3R5_uc002glu.3_5'UTR|PIK3R5_uc010coa.1_Missense_Mutation_p.P290S|PIK3R5_uc010cob.1_5'UTR NM_014308 NP_055123 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 341 DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). platelet activation cytosol|membrane|nucleus breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ATCTCTCTCGGCACAGTGCCC 0.502 NA 3 36 0 0 0 0 CCL1 6346 broad.mit.edu 37 17 32688914 32688914 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:32688914C>T uc002hid.1 - 2 150 c.78G>A c.(76-78)ATG>ATA p.M26I NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor 26 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) AGGGTACCTGCACTAGAAGAG 0.453 NA OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 130 0 0 0 0 KRT16 3868 broad.mit.edu 37 17 39767694 39767694 + Missense_Mutation SNP C C A rs142812826 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:39767694C>A uc002hxg.3 - 3 813 c.674G>T c.(673-675)CGG>CTG p.R225L JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 225 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) ATCCAACACCCGGCGCAGGCC 0.622 NA 25 101 4.88e-14 5.89e-14 1 0 WNK4 65266 broad.mit.edu 37 17 40948502 40948502 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr17:40948502T>A uc002ibj.2 + 18 3656 c.3635T>A c.(3634-3636)ATC>AAC p.I1212N WNK4_uc010wgx.1_Missense_Mutation_p.I876N|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1212 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTCCCAGGCATCATGCGAAGG 0.647 NA 22 67 0 0 0 0 POLI 11201 broad.mit.edu 37 18 51800403 51800403 + Missense_Mutation SNP G G T rs142974796 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr18:51800403G>T uc002lfj.3 + 3 417 c.349G>T c.(349-351)GTA>TTA p.V117L POLI_uc010xds.1_Missense_Mutation_p.V117L|POLI_uc002lfk.3_Missense_Mutation_p.V14L|POLI_uc002lfl.1_Missense_Mutation_p.V49L NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 117 UmuC. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) TCCACAGTTGGTATTAGTTAA 0.348 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 11 27 3.04e-14 3.69e-14 1 0 ZNF236 7776 broad.mit.edu 37 18 74671751 74671751 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr18:74671751C>G uc002lmi.2 + 29 5413 c.5215C>G c.(5215-5217)CGC>GGC p.R1739G ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1739 C2H2-type 28. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCAGCTGGAGCGCCACAGCCG 0.502 NA 14 65 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 30936347 30936347 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:30936347G>A uc002nsu.1 + 2 2016 c.1878G>A c.(1876-1878)ATG>ATA p.M626I ZNF536_uc010edd.1_Missense_Mutation_p.M626I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CTGGGAACATGAAGGAGAAGC 0.597 NA 58 222 0 0 0 0 ZNF83 55769 broad.mit.edu 37 19 53116711 53116711 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:53116711A>G uc002pzu.3 - 2 2351 c.1107T>C c.(1105-1107)GGT>GGC p.G369G ZNF83_uc002pzv.3_Silent_p.G369G|ZNF83_uc010eps.2_Silent_p.G341G|ZNF83_uc010ept.2_Silent_p.G369G|ZNF83_uc010epu.2_Silent_p.G369G|ZNF83_uc010epv.2_Silent_p.G369G|ZNF83_uc010epw.2_Silent_p.G369G|ZNF83_uc010epx.2_Silent_p.G341G|ZNF83_uc010epy.2_Silent_p.G369G|ZNF83_uc010epz.2_Silent_p.G341G NM_018300 NP_060770 P51522 ZNF83_HUMAN zinc finger protein 83 isoform a 369 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) AAGGTTTCTCACCGGCATGAA 0.393 NA 57 199 0 0 0 0 LILRB2 10288 broad.mit.edu 37 19 54780728 54780728 + Silent SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:54780728C>G uc002qfb.2 - 10 1682 c.1416G>C c.(1414-1416)CTG>CTC p.L472L LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.L472L|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.L471L|LILRB2_uc010yet.1_Silent_p.L356L NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 472 Helical; (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggaggaggagcagtaggaCGA 0.453 NA 36 124 0 0 0 0 ZIK1 284307 broad.mit.edu 37 19 58102416 58102416 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:58102416G>A uc002qpg.2 + 4 1334 c.1237G>A c.(1237-1239)GGG>AGG p.G413R ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.G358R|ZIK1_uc002qpi.2_Missense_Mutation_p.G400R|ZIK1_uc002qpj.2_Missense_Mutation_p.G310R NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 413 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGGTGACTGTGGGAAATCCTT 0.458 NA 16 77 0 0 0 0 ZNF418 147686 broad.mit.edu 37 19 58438767 58438767 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:58438767C>A uc002qqs.1 - 4 1074 c.782G>T c.(781-783)GGA>GTA p.G261V ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.G176V NM_133460 NP_597717 Q8TF45 ZN418_HUMAN zinc finger protein 418 261 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) CCCACATTCTCCACATTCATA 0.418 NA 15 210 1.36e-06 1.54e-06 1 0 EML4 27436 broad.mit.edu 37 2 42557100 42557100 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:42557100C>G uc002rsi.2 + 23 2961 c.2699C>G c.(2698-2700)CCG>CGG p.P900R EML4_uc010fap.2_Missense_Mutation_p.P842R|EML4_uc002rsj.2_Missense_Mutation_p.P589R|EML4_uc010faq.2_Missense_Mutation_p.P245R|EML4_uc010ynv.1_Missense_Mutation_p.P164R NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 900 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 ACTCCCACACCGCCTCCTTCT 0.473 NA T ALK NSCLC 33 133 0 0 0 0 NMS 129521 broad.mit.edu 37 2 101087010 101087010 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:101087010A>G uc002tan.1 + 1 67 c.60A>G c.(58-60)CTA>CTG p.L20L NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 20 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 TCTGCATGCTACAGATTCCCT 0.537 NA 34 153 0 0 0 0 BCL2L11 10018 broad.mit.edu 37 2 111907687 111907687 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:111907687G>T uc002tgv.1 + 3 749 c.461G>T c.(460-462)CGT>CTT p.R154L BCL2L11_uc002tgu.1_Missense_Mutation_p.R94L|BCL2L11_uc002tgw.1_RNA|BCL2L11_uc002tgx.1_RNA|BCL2L11_uc010fkd.1_RNA|BCL2L11_uc002tgy.1_Intron|BCL2L11_uc002tgz.1_Missense_Mutation_p.R64L|BCL2L11_uc010fke.1_Intron|BCL2L11_uc002tha.1_Intron|BCL2L11_uc002thb.1_RNA|BCL2L11_uc002thc.1_RNA|BCL2L11_uc002thd.1_Intron NM_138621 NP_619527 O43521 B2L11_HUMAN BCL2-like 11 isoform 1 154 BH3. activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding|protein binding 0 GAGTTGCGGCGTATTGGAGAC 0.448 NA 11 45 2.1e-16 2.6e-16 1 0 STEAP3 55240 broad.mit.edu 37 2 120003448 120003448 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:120003448C>T uc002tlp.2 + 3 533 c.376C>T c.(376-378)CGT>TGT p.R126C STEAP3_uc002tlq.2_Missense_Mutation_p.R136C|STEAP3_uc002tlr.2_Missense_Mutation_p.R126C|STEAP3_uc010fle.2_Missense_Mutation_p.R126C NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 126 Cytoplasmic (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 CCTTCAGCATCGTGAGTCCAA 0.582 NA 7 136 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141283518 141283518 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:141283518T>A uc002tvj.1 - 49 8893 c.7921A>T c.(7921-7923)ACA>TCA p.T2641S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2641 Extracellular (Potential).|LDL-receptor class A 14. 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) ATGAACCCTGTGGTTTTCACT 0.383 NA TSP Lung(27;0.18) 22 64 0 0 0 0 MARCH7 64844 broad.mit.edu 37 2 160604745 160604745 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:160604745A>T uc002uax.2 + 5 1066 c.944A>T c.(943-945)TAC>TTC p.Y315F MARCH7_uc010foq.2_Missense_Mutation_p.Y315F|MARCH7_uc010zcn.1_Missense_Mutation_p.Y259F|MARCH7_uc010for.2_Missense_Mutation_p.Y277F|MARCH7_uc002uay.2_RNA NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 315 Ser-rich. ligase activity|zinc ion binding 0 GAAAATTCTTACGTTTCTCCA 0.398 NA 26 94 0 0 0 0 COL4A3 1285 broad.mit.edu 37 2 228173694 228173694 + Silent SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:228173694A>T uc002vom.1 + 49 4704 c.4542A>T c.(4540-4542)GCA>GCT p.A1514A COL4A3_uc002von.1_Silent_p.A1514A|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1514 Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GTAATTTTGCATCTCGAAATG 0.433 NA 35 106 0 0 0 0 SIRPD 128646 broad.mit.edu 37 20 1532406 1532406 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr20:1532406C>T uc002wfi.2 - 2 396 c.352G>A c.(352-354)GTG>ATG p.V118M NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 118 Ig-like V-type. extracellular region ovary(1)|kidney(1)|skin(1) 3 ATGAACTTCACGCAGTAATAG 0.488 NA 22 100 0 0 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31798152 31798152 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr21:31798152C>A uc002yob.1 - 1 79 c.79G>T c.(79-81)GGC>TGC p.G27C NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 27 intermediate filament ovary(1)|lung(1) 2 TAGGAAGAGCCACAGGAGGAG 0.567 NA 34 136 2.2e-14 2.69e-14 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072997 17072997 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:17072997G>A uc002zlp.1 - 1 704 c.444C>T c.(442-444)CCC>CCT p.P148P NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 148 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TGGCCAGGGAGGGCAGTGTGG 0.637 NA 8 48 0 0 0 0 C22orf31 25770 broad.mit.edu 37 22 29454807 29454807 + Missense_Mutation SNP A A C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:29454807A>C uc003aej.1 - 3 923 c.796T>G c.(796-798)TTC>GTC p.F266V NM_015370 NP_056185 O95567 CV031_HUMAN hypothetical protein LOC25770 266 0 CTGCCAGGGAACCGGTCCCTC 0.522 NA 17 154 0 0 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39385564 39385564 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:39385564C>A uc003awo.1 + 5 726 c.672C>A c.(670-672)GAC>GAA p.D224E APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.D224E|APOBEC3B_uc003awq.1_Intron|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 224 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding ovary(1) 1 Melanoma(58;0.04) AGCGCCTGGACAATGGCACCT 0.562 NA 17 70 1.68e-08 1.95e-08 1 0 APOBEC3D 140564 broad.mit.edu 37 22 39427930 39427930 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:39427930T>C uc011aoe.1 + 6 1048 c.994T>C c.(994-996)TGC>CGC p.C332R APOBEC3D_uc011aof.1_Missense_Mutation_p.C148R|APOBEC3D_uc003awu.3_Missense_Mutation_p.C148R|APOBEC3D_uc003awt.3_Missense_Mutation_p.C332R|APOBEC3D_uc010gxu.2_Missense_Mutation_p.C128R NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 332 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) GGAGGGGCTCTGCAGCCTGAG 0.617 NA 11 139 0 0 0 0 SCUBE1 80274 broad.mit.edu 37 22 43617226 43617226 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr22:43617226G>C uc003bdt.1 - 13 1590 c.1502C>G c.(1501-1503)CCC>CGC p.P501R NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 501 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_neural(38;0.0414)|Ovarian(80;0.07) CTGGCTGTGGGGCCGGAGGTG 0.642 NA 18 56 0 0 0 0 IL17RC 84818 broad.mit.edu 37 3 9970113 9970113 + Silent SNP T T G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:9970113T>G uc003bua.2 + 11 1451 c.1215T>G c.(1213-1215)GGT>GGG p.G405G CIDEC_uc003bto.2_Intron|IL17RC_uc011ato.1_RNA|IL17RC_uc010hcs.2_Silent_p.G309G|IL17RC_uc003btz.2_Silent_p.G334G|IL17RC_uc011atp.1_Silent_p.G190G|IL17RC_uc003bud.2_5'UTR|IL17RC_uc003bub.2_Silent_p.G319G|IL17RC_uc010hct.2_Silent_p.G334G|IL17RC_uc010hcu.2_Silent_p.G334G|IL17RC_uc010hcv.2_Silent_p.G319G|IL17RC_uc011atq.1_Silent_p.G319G|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_5'Flank NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 405 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GGGCTCCGGGTGGGGACCCCT 0.682 NA 11 57 0 0 0 0 RFT1 91869 broad.mit.edu 37 3 53156407 53156407 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:53156407T>C uc003dgj.2 - 4 493 c.439A>G c.(439-441)ATG>GTG p.M147V RFT1_uc003dgk.2_Missense_Mutation_p.M108V NM_052859 NP_443091 Q96AA3 RFT1_HUMAN RFT1 homolog 147 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) TTCACAAACATATGTGCTTGT 0.443 NA 44 93 0 0 0 0 CACNA1D 776 broad.mit.edu 37 3 53699745 53699745 + Silent SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:53699745C>A uc003dgv.3 + 6 988 c.825C>A c.(823-825)GCC>GCA p.A275A CACNA1D_uc003dgu.3_Silent_p.A275A|CACNA1D_uc003dgy.3_Silent_p.A275A|CACNA1D_uc003dgw.3_5'Flank NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 275 Helical; Name=S5 of repeat I; (Potential).|I. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TTCACATAGCCCTTTTGGTAT 0.353 NA 36 148 1.05e-18 1.32e-18 1 0 NPHP3 27031 broad.mit.edu 37 3 132413714 132413714 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:132413714C>A uc003epe.1 - 16 2344 c.2267G>T c.(2266-2268)CGG>CTG p.R756L NPHP3_uc003epd.1_5'UTR NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 756 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 CATGGACTCCCGGATAGAGTG 0.373 NA 31 157 8.89e-20 1.13e-19 1 0 PLSCR2 57047 broad.mit.edu 37 3 146171942 146171942 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:146171942G>A uc003evv.1 - 6 663 c.330C>T c.(328-330)ATC>ATT p.I110I PLSCR2_uc003evw.1_Silent_p.I179I NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 110 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 GAGGAGCTTGGATTTCTATCT 0.264 NA 14 56 0 0 0 0 IL12A 3592 broad.mit.edu 37 3 159710911 159710911 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:159710911A>T uc003fcx.2 + 3 592 c.377A>T c.(376-378)AAG>ATG p.K126M uc003fcw.1_Intron NM_000882 NP_000873 P29459 IL12A_HUMAN interleukin 12A precursor 92 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity 0 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAATTAACCAAGGTATAAAGG 0.383 NA 24 99 0 0 0 0 SERPINI1 5274 broad.mit.edu 37 3 167525118 167525118 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:167525118C>A uc003ffa.3 + 6 1166 c.968C>A c.(967-969)ACA>AAA p.T323K SERPINI1_uc003ffb.3_Missense_Mutation_p.T323K NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 323 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 GCAAATTTGACAGGCCTCTCT 0.303 NA 26 129 1.85e-09 2.18e-09 1 0 SPATA16 83893 broad.mit.edu 37 3 172835423 172835423 + Silent SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:172835423G>C uc003fin.3 - 2 257 c.99C>G c.(97-99)ACC>ACG p.T33T NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 33 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) GGTGCGCTAAGGTGGACATTT 0.403 NA 207 423 0 0 0 0 CPN2 1370 broad.mit.edu 37 3 194062541 194062541 + Silent SNP G G A rs140809499 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr3:194062541G>A uc003fts.2 - 2 981 c.891C>T c.(889-891)ACC>ACT p.T297T NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 297 LRR 9. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCTGGTTATGGGTCAGAGACA 0.587 NA 25 64 0 0 0 0 WHSC1 7468 broad.mit.edu 37 4 1957915 1957915 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:1957915G>T uc003gdz.3 + 15 3057 c.2881G>T c.(2881-2883)GCA>TCA p.A961S WHSC1_uc003geb.3_Missense_Mutation_p.A961S|WHSC1_uc003gec.3_Missense_Mutation_p.A961S|WHSC1_uc003ged.3_Missense_Mutation_p.A961S|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.A180S|WHSC1_uc011bvh.1_Missense_Mutation_p.A22S|WHSC1_uc010icf.2_Missense_Mutation_p.A309S NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 961 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) CTTCAAAAACGGTACGGAGAT 0.463 NA T IGH@ MM 15 138 2.32e-05 2.56e-05 1 0 YIPF7 285525 broad.mit.edu 37 4 44626759 44626759 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:44626759G>T uc010ifx.1 - 5 556 c.539C>A c.(538-540)GCC>GAC p.A180D NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 180 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 GCAGCCAATGGCACTCATGCC 0.507 NA 3 15 1.24e-05 1.38e-05 1 0 CXCL10 3627 broad.mit.edu 37 4 76943875 76943875 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:76943875C>G uc003hjl.3 - 2 227 c.157G>C c.(157-159)GCA>CCA p.A53P ART3_uc003hji.2_Intron|ART3_uc003hjj.2_Intron|ART3_uc003hjk.2_Intron NM_001565 NP_001556 P02778 CXL10_HUMAN small inducible cytokine B10 precursor 53 blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity 0 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) AATTGGCTTGCAGGAATAATT 0.363 NA 17 103 0 0 0 0 SEC31A 22872 broad.mit.edu 37 4 83770026 83770026 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:83770026C>A uc003hnf.2 - 20 2597 c.2433G>T c.(2431-2433)AAG>AAT p.K811N SEC31A_uc003hne.2_Missense_Mutation_p.K544N|SEC31A_uc011ccl.1_Missense_Mutation_p.K772N|SEC31A_uc003hnl.2_Missense_Mutation_p.K772N|SEC31A_uc003hng.2_Missense_Mutation_p.K811N|SEC31A_uc003hnh.2_Missense_Mutation_p.K811N|SEC31A_uc003hni.2_Missense_Mutation_p.K811N|SEC31A_uc003hnj.2_Missense_Mutation_p.K772N|SEC31A_uc011ccm.1_Missense_Mutation_p.K806N|SEC31A_uc011ccn.1_Missense_Mutation_p.K811N|SEC31A_uc003hnk.2_Missense_Mutation_p.K772N|SEC31A_uc003hnm.2_Missense_Mutation_p.K811N|SEC31A_uc003hnn.1_Missense_Mutation_p.K811N NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 811 Interaction with PDCD6.|Pro-rich. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) CAGGCCTGCCCTTGGGGAGCT 0.488 NA 28 118 1.89e-17 2.36e-17 1 0 ALPK1 80216 broad.mit.edu 37 4 113359713 113359713 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:113359713G>C uc003iap.3 + 13 3541 c.3262G>C c.(3262-3264)GCA>CCA p.A1088P ALPK1_uc003ian.3_Missense_Mutation_p.A1088P|ALPK1_uc011cfx.1_Missense_Mutation_p.A1010P|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.A916P NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1088 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACAGATGACCGCACAGCACTA 0.428 NA 39 151 0 0 0 0 PCDH10 57575 broad.mit.edu 37 4 134071805 134071805 + Silent SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr4:134071805C>T uc003iha.2 + 1 1336 c.510C>T c.(508-510)GAC>GAT p.D170D uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.D170D NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 170 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCTCCCTGGACGTGCAGACCC 0.637 NA 20 101 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26988326 26988326 + Missense_Mutation SNP C C G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:26988326C>G uc003jgs.1 - 2 284 c.115G>C c.(115-117)GGT>CGT p.G39R CDH9_uc010iug.2_Missense_Mutation_p.G39R NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 39 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTTGTCAGACCCGCTATCTTT 0.393 NA 32 73 0 0 0 0 ISL1 3670 broad.mit.edu 37 5 50687247 50687247 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:50687247A>T uc003jor.2 + 5 1453 c.905A>T c.(904-906)GAC>GTC p.D302V NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 302 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) TTGCAGAGTGACATAGATCAG 0.498 NA 25 77 0 0 0 0 ESM1 11082 broad.mit.edu 37 5 54275232 54275232 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:54275232A>G uc003jpk.2 - 3 552 c.483T>C c.(481-483)ATT>ATC p.I161I ESM1_uc010ivt.2_Silent_p.I111I NM_007036 NP_008967 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 isoform a 161 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) CTTCTCTCACAATATTGCCAT 0.433 NA 19 134 0 0 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604627 140604627 + Missense_Mutation SNP G G C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:140604627G>C uc003ljb.2 + 1 1550 c.1550G>C c.(1549-1551)AGG>ACG p.R517T PCDHB14_uc011dal.1_Missense_Mutation_p.R364T NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 517 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCCCTCAGGTCGCTGGAC 0.682 NA 20 153 0 0 0 0 C5orf54 63920 broad.mit.edu 37 5 159821393 159821393 + Nonsense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:159821393C>A uc003lye.1 - 2 1569 c.1105G>T c.(1105-1107)GAG>TAG p.E369* C5orf54_uc003lyf.1_Nonsense_Mutation_p.E369* NM_022090 NP_071373 Q8IZ13 CE054_HUMAN transposon-derived Buster3 transposase-like 369 pancreas(1) 1 attttaaactctttattttca 0 NA 20 80 3.52e-12 4.23e-12 1 0 ATP10B 23120 broad.mit.edu 37 5 159992486 159992486 + Silent SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:159992486G>T uc003lym.1 - 26 5207 c.4360C>A c.(4360-4362)CGA>AGA p.R1454R ATP10B_uc010jit.1_Silent_p.R704R NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1454 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTGGGATCGGCGATGGCTG 0.527 NA 37 100 1.42e-22 1.81e-22 1 0 GRM6 2916 broad.mit.edu 37 5 178413301 178413301 + Missense_Mutation SNP C C T rs150850494 TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr5:178413301C>T uc003mjr.2 - 8 2133 c.1954G>A c.(1954-1956)GCC>ACC p.A652T GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A235T|GRM6_uc003mjs.1_Missense_Mutation_p.A272T NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 652 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) AGCCTGCGGGCGGCACAGACC 0.642 NA 4 21 0 0 0 0 MDC1 9656 broad.mit.edu 37 6 30680344 30680344 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:30680344C>T uc003nrg.3 - 5 1815 c.1375G>A c.(1375-1377)GAG>AAG p.E459K MDC1_uc003nrf.3_Missense_Mutation_p.E113K|MDC1_uc011dmp.1_Missense_Mutation_p.E331K|MDC1_uc003nrh.1_Missense_Mutation_p.E331K|MDC1_uc003nri.2_Missense_Mutation_p.E459K NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 459 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 AGCTCTTCCTCCTCCACGTCT 0.493 NA Other_conserved_DNA_damage_response_genes 35 133 0 0 0 0 BTBD9 114781 broad.mit.edu 37 6 38256211 38256211 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:38256211C>A uc003ooa.3 - 9 1867 c.1291G>T c.(1291-1293)GCT>TCT p.A431S BTBD9_uc003ony.3_Missense_Mutation_p.A363S|BTBD9_uc010jwv.2_Missense_Mutation_p.A392S|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.A431S NM_052893 NP_443125 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 isoform a 431 cell adhesion 0 GCACAATCAGCAATTGTTGCA 0.428 NA 18 75 5.35e-07 6.13e-07 1 0 TTK 7272 broad.mit.edu 37 6 80720550 80720550 + Silent SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:80720550A>G uc003pjc.2 + 5 563 c.489A>G c.(487-489)AAA>AAG p.K163K TTK_uc003pjb.3_Silent_p.K163K NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 163 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AAAAAAGTAAACAACTTCTTC 0.398 NA 21 51 0 0 0 0 MICAL1 64780 broad.mit.edu 37 6 109773738 109773738 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:109773738C>T uc003ptj.2 - 4 906 c.652G>A c.(652-654)GCA>ACA p.A218T MICAL1_uc003ptk.2_Missense_Mutation_p.A218T|MICAL1_uc010kdr.2_Missense_Mutation_p.A218T|MICAL1_uc011eaq.1_Missense_Mutation_p.A237T NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN microtubule associated monoxygenase, calponin 218 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding breast(2)|ovary(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TTACCTCCTGCAGCCGAGATA 0.557 NA 15 43 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146755141 146755141 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr6:146755141C>A uc010khw.1 + 9 3264 c.2794C>A c.(2794-2796)CCC>ACC p.P932T GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 932 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CGTCATCAAGCCCCTCACTAA 0.557 NA 33 136 7.11e-15 8.7e-15 1 0 ZNF12 7559 broad.mit.edu 37 7 6731084 6731084 + Nonsense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:6731084C>A uc003sqt.1 - 5 2043 c.1489G>T c.(1489-1491)GAA>TAA p.E497* ZNF12_uc011jxa.1_Nonsense_Mutation_p.E335*|ZNF12_uc003sqs.1_Nonsense_Mutation_p.E459* NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 497 C2H2-type 9. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TTTCCACATTCATTACATTCG 0.398 NA 48 180 2.66e-33 3.47e-33 1 0 ABCA13 154664 broad.mit.edu 37 7 48413965 48413965 + Missense_Mutation SNP T T G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:48413965T>G uc003toq.2 + 34 11180 c.11155T>G c.(11155-11157)TTT>GTT p.F3719V ABCA13_uc010kys.1_Missense_Mutation_p.F793V|ABCA13_uc003tos.1_Missense_Mutation_p.F545V|ABCA13_uc010kyt.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 3719 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GACAACCGCCTTTGGACAAGG 0.413 NA 5 19 0 0 0 0 EPHB4 2050 broad.mit.edu 37 7 100414856 100414856 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:100414856C>T uc003uwn.1 - 8 2037 c.1546G>A c.(1546-1548)GGG>AGG p.G516R EPHB4_uc003uwm.1_Missense_Mutation_p.G423R|EPHB4_uc010lhj.1_Missense_Mutation_p.G516R|EPHB4_uc011kkf.1_Intron|EPHB4_uc011kkg.1_3'UTR NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 516 Extracellular (Potential).|Fibronectin type-III 2. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGAAGGGCCCGTAGCCGGCC 0.657 NA 7 31 0 0 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303688 110303688 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:110303688C>A uc003vfq.1 - 6 941 c.498G>T c.(496-498)GAG>GAT p.E166D IMMP2L_uc010ljr.1_Missense_Mutation_p.E166D NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 166 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CTGGTAAGCGCTCTGGAGGAA 0.493 NA 33 110 2.08e-15 2.56e-15 1 0 AHCYL2 23382 broad.mit.edu 37 7 129053482 129053482 + Missense_Mutation SNP A A G TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr7:129053482A>G uc011kov.1 + 12 1468 c.1414A>G c.(1414-1416)AGC>GGC p.S472G AHCYL2_uc003vot.2_Missense_Mutation_p.S471G|AHCYL2_uc003vov.2_Missense_Mutation_p.S369G|AHCYL2_uc011kow.1_Missense_Mutation_p.S370G|AHCYL2_uc011kox.1_Missense_Mutation_p.S369G NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN S-adenosylhomocysteine hydrolase-like 2 isoform 472 one-carbon metabolic process adenosylhomocysteinase activity ovary(2) 2 TATGAAGAATAGCTGCATCGT 0.403 NA 23 104 0 0 0 0 PREX2 80243 broad.mit.edu 37 8 69028102 69028102 + Silent SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:69028102T>C uc003xxv.1 + 26 3288 c.3261T>C c.(3259-3261)TTT>TTC p.F1087F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1087 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GGGTATGTTTTAATGTAGCAG 0.383 NA 33 163 0 0 0 0 SDC2 6383 broad.mit.edu 37 8 97614673 97614673 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:97614673C>T uc003yhv.1 + 3 841 c.223C>T c.(223-225)CCA>TCA p.P75S SDC2_uc011lgu.1_Missense_Mutation_p.P46S NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 75 Extracellular (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) TCGACCACTTCCAAAGATACT 0.448 NA 36 148 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 114111056 114111056 + Missense_Mutation SNP T T C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:114111056T>C uc003ynu.2 - 5 1005 c.846A>G c.(844-846)ATA>ATG p.I282M CSMD3_uc003ynt.2_Missense_Mutation_p.I242M|CSMD3_uc011lhx.1_Missense_Mutation_p.I282M|CSMD3_uc010mcx.1_Missense_Mutation_p.I282M NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 282 Extracellular (Potential).|CUB 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AATCAGTAAATATGAGTGAAA 0.383 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 118 0 0 0 0 ADCY8 114 broad.mit.edu 37 8 131793033 131793033 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:131793033C>T uc003ytd.3 - 18 3615 c.3359G>A c.(3358-3360)CGA>CAA p.R1120Q ADCY8_uc010mds.2_Missense_Mutation_p.R989Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1120 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCTGTCCATTCGGCTTGCCAG 0.567 NA HNSCC(32;0.087) 64 304 0 0 0 0 TMEM71 137835 broad.mit.edu 37 8 133764056 133764056 + Missense_Mutation SNP C C A rs111461300 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:133764056C>A uc003ytp.2 - 4 518 c.289G>T c.(289-291)GTT>TTT p.V97F TMEM71_uc003ytn.2_Missense_Mutation_p.V97F|TMEM71_uc003yto.2_Missense_Mutation_p.V97F NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 97 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTATACATAACGCTGGTCTGG 0.388 NA 54 233 3.22e-24 4.13e-24 1 0 FAM135B 51059 broad.mit.edu 37 8 139164635 139164635 + Missense_Mutation SNP C C A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:139164635C>A uc003yuy.2 - 13 2254 c.2083G>T c.(2083-2085)GTC>TTC p.V695F FAM135B_uc003yux.2_Missense_Mutation_p.V596F|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V257F|FAM135B_uc003yvb.2_Missense_Mutation_p.V257F NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 695 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) GACCAGGCGACGGAGCTTGGC 0.552 NA HNSCC(54;0.14) 30 97 1.32e-22 1.69e-22 1 0 TPD52L3 89882 broad.mit.edu 37 9 6330998 6330998 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:6330998G>A uc003zjx.1 + 2 611 c.390G>A c.(388-390)ACG>ACA p.T130T NM_001001874 NP_001001874 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 2 Error:Variant_position_missing_in_Q96J77_after_alignment protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) ATAAATACACGTTAAATCAAG 0.313 NA 23 118 0 0 0 0 CNTLN 54875 broad.mit.edu 37 9 17236462 17236462 + Missense_Mutation SNP A A T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:17236462A>T uc003zmz.2 + 5 751 c.725A>T c.(724-726)AAT>ATT p.N242I CNTLN_uc003zmx.3_Missense_Mutation_p.N242I|CNTLN_uc003zmy.2_Missense_Mutation_p.N242I|CNTLN_uc010mio.2_5'UTR NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 242 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) GTTATAAAAAATCTGGAGGAG 0.378 NA 30 142 0 0 0 0 C9orf135 138255 broad.mit.edu 37 9 72472845 72472845 + Missense_Mutation SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:72472845C>T uc004ahl.2 + 4 466 c.401C>T c.(400-402)ACA>ATA p.T134I C9orf135_uc011lrw.1_Missense_Mutation_p.T26I|C9orf135_uc010moq.2_Missense_Mutation_p.T26I|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Missense_Mutation_p.T134I NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 134 Helical; (Potential). integral to membrane ovary(1) 1 TTGCCTGCCACAGGTTTTGGA 0.368 NA 71 129 0 0 0 0 ACTL7B 10880 broad.mit.edu 37 9 111617803 111617803 + Silent SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:111617803G>A uc004bdi.2 - 1 473 c.408C>T c.(406-408)ACC>ACT p.T136T NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 136 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 TCTTCATGGCGGTGCGGAAGA 0.622 NA 32 60 0 0 0 0 SCAI 286205 broad.mit.edu 37 9 127765428 127765428 + Missense_Mutation SNP T T A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:127765428T>A uc004bpe.2 - 11 1111 c.1030A>T c.(1030-1032)AGC>TGC p.S344C SCAI_uc004bpd.2_Missense_Mutation_p.S367C|SCAI_uc010mwu.2_RNA NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 344 negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 TATAGCTGGCTGAAGGTTGGT 0.383 NA 193 340 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401756 139401756 + Splice_Site SNP C C T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr9:139401756C>T uc004chz.2 - 22 3643 c.3643_splice c.e22+1 p.G1215_splice NOTCH1_uc004cia.1_Splice_Site_p.G445_splice NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGGCCCTTACCCTGAGTGCC 0.692 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 24 49 0 0 0 0 KDM6A 7403 broad.mit.edu 37 X 44929602 44929602 + Missense_Mutation SNP G G T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chrX:44929602G>T uc004dge.3 + 17 3077 c.2702G>T c.(2701-2703)AGG>ATG p.R901M KDM6A_uc010nhk.2_Missense_Mutation_p.R867M|KDM6A_uc011mkz.1_Missense_Mutation_p.R953M|KDM6A_uc011mla.1_Missense_Mutation_p.R856M|KDM6A_uc011mlb.1_Missense_Mutation_p.R908M|KDM6A_uc011mlc.1_Missense_Mutation_p.R605M|KDM6A_uc011mld.1_Missense_Mutation_p.R540M NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 901 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 AAGGCATGCAGGTTAGTGTGG 0.418 NA D|N|F|S renal|oesophageal SCC|MM 9 13 4.69e-08 5.4e-08 1 0 COL24A1 255631 broad.mit.edu 37 1 86591796 86591796 + Frame_Shift_Del DEL C C - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr1:86591796delC uc001dlj.2 - 3 265 c.223delG c.(223-225)GTCfs p.V75fs COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Frame_Shift_Del_p.V75fs NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 75 TSP N-terminal. cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) GTTAAATGGACCCCCTGAGGT 0.428 NA 7 101 --- --- --- --- NA NA NA NA USP35 57558 broad.mit.edu 37 11 77921387 77921388 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr11:77921387_77921388insC uc009yva.1 + 10 2732_2733 c.2486_2487insC c.(2485-2487)ATCfs p.I829fs USP35_uc001oze.2_Frame_Shift_Ins_p.I585fs|USP35_uc001ozc.2_Frame_Shift_Ins_p.I397fs|USP35_uc010rsp.1_Frame_Shift_Ins_p.I261fs|USP35_uc001ozd.2_Frame_Shift_Ins_p.I440fs|USP35_uc001ozf.2_Frame_Shift_Ins_p.I560fs NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 829 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) GACGTCTCCATCCCCCTGCTGC 0.634 NA 18 171 --- --- --- --- NA NA NA NA LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr19:43969653_43969655delAGC uc002owl.1 - 1 177_179 c.69_71delGCT c.(67-72)CTGCTT>CTT p.23_24LL>L LYPD3_uc002owm.2_In_Frame_Del_p.23_24LL>L NM_014400 NP_055215 O95274 LYPD3_HUMAN GPI-anchored metastasis-associated protein 23_24 anchored to plasma membrane pancreas(1) 1 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 NA 7 226 --- --- --- --- NA NA NA NA NR4A2 4929 broad.mit.edu 37 2 157182714 157182715 + Frame_Shift_Ins INS - - A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr2:157182714_157182715insA uc002tyz.3 - 7 1909_1910 c.1487_1488insT c.(1486-1488)ATGfs p.M496fs NR4A2_uc002tyx.3_Frame_Shift_Ins_p.M433fs|NR4A2_uc010zcf.1_Frame_Shift_Ins_p.M496fs|NR4A2_uc010zcg.1_Frame_Shift_Ins_p.*78fs NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 496 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 TGTCGATGTTCATATTCTGCAA 0.515 NA 22 71 --- --- --- --- NA NA NA NA ZNF295 49854 broad.mit.edu 37 21 43413874 43413875 + Frame_Shift_Ins INS - - C TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr21:43413874_43413875insC uc002zab.3 - 3 544_545 c.330_331insG c.(328-333)GGGATTfs p.G110fs ZNF295_uc002yzz.3_Frame_Shift_Ins_p.G110fs|ZNF295_uc002yzy.3_Frame_Shift_Ins_p.G110fs|ZNF295_uc002zaa.3_Frame_Shift_Ins_p.G110fs|ZNF295_uc010gov.1_Frame_Shift_Ins_p.G110fs|ZNF295_uc002zac.2_Frame_Shift_Ins_p.G110fs NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 110_111 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 AGAAAGGAAATCCCAAGACTAT 0.376 NA 16 50 --- --- --- --- NA NA NA NA RUNX1T1 862 broad.mit.edu 37 8 93017415 93017415 + Frame_Shift_Del DEL G G - TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chr8:93017415delG uc003yfd.2 - 5 753 c.669delC c.(667-669)ACCfs p.T223fs RUNX1T1_uc003yfc.1_Frame_Shift_Del_p.T196fs|RUNX1T1_uc003yfe.1_Frame_Shift_Del_p.T186fs|RUNX1T1_uc010mao.2_Frame_Shift_Del_p.T196fs|RUNX1T1_uc011lgi.1_Frame_Shift_Del_p.T234fs|RUNX1T1_uc003yfb.1_Frame_Shift_Del_p.T186fs|RUNX1T1_uc003yff.1_Frame_Shift_Del_p.T186fs NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 223 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGGTGAGGTGGTGCTGGCAT 0.592 NA 41 197 --- --- --- --- NA NA NA NA SLITRK4 139065 broad.mit.edu 37 X 142718162 142718163 + Frame_Shift_Ins INS - - T TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0d93e8bc-69d5-47aa-b4bb-bf7b0ade92d6 247f6eb8-26da-4232-ba2d-eba32e4098ae g.chrX:142718162_142718163insT uc004fbx.2 - 2 1138_1139 c.762_763insA c.(760-765)AAAGAAfs p.K254fs SLITRK4_uc004fby.2_Frame_Shift_Ins_p.K254fs NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 254_255 Extracellular (Potential).|LRRCT 1. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTGTTGGTTTCTTTTAAAAGCC 0.45 NA 19 47 --- --- --- --- NA NA NA NA