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 GPR153 387509 broad.mit.edu 37 1 6314708 6314708 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:6314708G>A uc001amp.1 - 2 518 c.258C>T c.(256-258)TTC>TTT p.F86F NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 86 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) AGGTGGACACGAAGACCTTGC 0.607000 MYOM3 127294 broad.mit.edu 37 1 24424487 24424487 + Missense_Mutation SNP T T C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:24424487T>C uc001bin.3 - 7 834 c.671A>G c.(670-672)GAC>GGC p.D224G MYOM3_uc001bim.3_5'Flank|MYOM3_uc001bio.2_Missense_Mutation_p.D224G|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 224 Ig-like C2-type 1. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) AGTTGCTGAGTCCTCAATGGC 0.582000 MFSD2A 84879 broad.mit.edu 37 1 40424370 40424370 + Nonsense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:40424370C>T uc001cev.2 + 3 446 c.265C>T c.(265-267)CAG>TAG p.Q89* MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Intron|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_Intron NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 89 Helical; (Potential). transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 CTCCTCATTCCAGGTGGGCCC 0.572000 TIE1 7075 broad.mit.edu 37 1 43772633 43772633 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:43772633C>T uc001ciu.2 + 4 686 c.607C>T c.(607-609)CTG>TTG p.L203L TIE1_uc010okd.1_Silent_p.L203L|TIE1_uc010oke.1_Silent_p.L158L|TIE1_uc009vwq.2_Silent_p.L203L|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010okb.1_Silent_p.L203L|TIE1_uc010okc.1_Silent_p.L203L NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 203 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCCAGCCCCCTGGGCAGCGC 0.632000 C8A 731 broad.mit.edu 37 1 57349320 57349320 + Nonsense_Mutation SNP C C A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:57349320C>A uc001cyo.2 + 6 953 c.821C>A c.(820-822)TCA>TAA p.S274* NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 274 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 CAAGACACTTCATTCTTGAAC 0.403000 NCSTN 23385 broad.mit.edu 37 1 160327004 160327004 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:160327004C>T uc001fvx.2 + 16 2092 c.1968C>T c.(1966-1968)ATC>ATT p.I656I NCSTN_uc001fvy.2_Silent_p.I636I|NCSTN_uc010pjf.1_Silent_p.I518I|NCSTN_uc001fvz.2_Silent_p.I436I|NCSTN_uc010pjg.1_Silent_p.I398I NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 656 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGAAAGATATCCGTGCCCGGA 0.517000 PBX1 5087 broad.mit.edu 37 1 164761842 164761842 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:164761842C>T uc001gct.2 + 3 635 c.377C>T c.(376-378)TCG>TTG p.S126L PBX1_uc010pku.1_Missense_Mutation_p.S126L|PBX1_uc010pkv.1_Missense_Mutation_p.S43L|PBX1_uc001gcs.2_Missense_Mutation_p.S126L|PBX1_uc010pkw.1_Missense_Mutation_p.S16L NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 126 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 GGCGGAGGGTcggcggcagcg 0.507000 T TCF3|EWSR1 pre B-ALL|myoepithelioma SLC9A11 284525 broad.mit.edu 37 1 173552664 173552664 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:173552664G>A uc001giz.2 - 6 1044 c.621C>T c.(619-621)ATC>ATT p.I207I SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 207 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TAGAAAAGTGGATTCTGTTGC 0.289000 KCNT2 343450 broad.mit.edu 37 1 196274444 196274444 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:196274444G>A uc001gtd.1 - 22 2575 c.2515C>T c.(2515-2517)CTA>TTA p.L839L KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.L765L|KCNT2_uc001gtf.1_Silent_p.L815L|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Silent_p.L815L|KCNT2_uc001gth.1_Silent_p.L336L NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 839 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 GGGTGAGTTAGCTCTGTGATA 0.353000 ESRRG 2104 broad.mit.edu 37 1 216741435 216741435 + Missense_Mutation SNP G G T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:216741435G>T uc001hkw.1 - 4 761 c.595C>A c.(595-597)CGT>AGT p.R199S ESRRG_uc001hky.1_Missense_Mutation_p.R176S|ESRRG_uc009xdp.1_Missense_Mutation_p.R176S|ESRRG_uc001hkz.1_Missense_Mutation_p.R137S|ESRRG_uc010puc.1_Missense_Mutation_p.R176S|ESRRG_uc001hla.1_Missense_Mutation_p.R176S|ESRRG_uc001hlb.1_Missense_Mutation_p.R176S|ESRRG_uc010pud.1_Missense_Mutation_p.R7S|ESRRG_uc001hlc.1_Missense_Mutation_p.R176S|ESRRG_uc001hld.1_Missense_Mutation_p.R176S|ESRRG_uc001hkx.1_Missense_Mutation_p.R204S|ESRRG_uc009xdo.1_Missense_Mutation_p.R176S|ESRRG_uc001hle.1_Missense_Mutation_p.R176S NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 199 Nuclear receptor. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTGTCAAGACGCACCCCTGTG 0.507000 RYR2 6262 broad.mit.edu 37 1 237796936 237796936 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:237796936G>A uc001hyl.1 + 43 6734 c.6614G>A c.(6613-6615)CGT>CAT p.R2205H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2205 Cytoplasmic (By similarity).|4 X approximate repeats. 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) TACTTCTGTCGTATAAGTAGG 0.388000 FMN2 56776 broad.mit.edu 37 1 240256750 240256750 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:240256750G>A uc010pyd.1 + 1 1566 c.1341G>A c.(1339-1341)CCG>CCA p.P447P FMN2_uc010pye.1_Silent_p.P447P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 447 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AGAGGCGGCCGGAACCCTCCC 0.692000 SMYD3 64754 broad.mit.edu 37 1 246021942 246021942 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr1:246021942G>A uc001ibl.2 - 10 1027 c.932C>T c.(931-933)GCA>GTA p.A311V SMYD3_uc001ibk.2_Missense_Mutation_p.A252V|SMYD3_uc001ibi.2_Missense_Mutation_p.A122V|SMYD3_uc001ibj.2_Missense_Mutation_p.A122V NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 311 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GCTTATGATTGCCTGGCACAT 0.448000 ITIH5 80760 broad.mit.edu 37 10 7618701 7618701 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:7618701C>T uc001ijq.2 - 10 1772 c.1693G>A c.(1693-1695)GAT>AAT p.D565N ITIH5_uc001ijp.2_Missense_Mutation_p.D351N|ITIH5_uc001ijr.1_Missense_Mutation_p.D565N NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 565 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CCCTCTCCATCGCCTCCAGGC 0.567000 PCDH15 65217 broad.mit.edu 37 10 55755492 55755492 + Nonsense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:55755492G>A uc001jju.1 - 21 3180 c.2785C>T c.(2785-2787)CGA>TGA p.R929* PCDH15_uc010qhq.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.1_Nonsense_Mutation_p.R936*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.R934*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.R929* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 929 Extracellular (Potential).|Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTGTATATTCGTTTACTAAAG 0.408000 HNSCC(58;0.16) KIAA1274 27143 broad.mit.edu 37 10 72285718 72285718 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:72285718C>T uc001jrd.3 + 2 292 c.11C>T c.(10-12)ACG>ATG p.T4M NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 4 ovary(2)|central_nervous_system(1) 3 ATGGGTACAACGGCCAGCACA 0.612000 GBF1 8729 broad.mit.edu 37 10 104135332 104135332 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:104135332C>T uc001kux.1 + 30 4114 c.3874C>T c.(3874-3876)CCT>TCT p.P1292S GBF1_uc001kuy.1_Missense_Mutation_p.P1292S|GBF1_uc001kuz.1_Missense_Mutation_p.P1293S NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1292 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GGCAGATGCACCTGATGCCGG 0.562000 SORCS3 22986 broad.mit.edu 37 10 106927067 106927067 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:106927067G>A uc001kyi.1 + 13 2088 c.1861G>A c.(1861-1863)GTG>ATG p.V621M NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 621 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TGGTGCCCTCGTGGCCATGAA 0.378000 C10orf90 118611 broad.mit.edu 37 10 128193340 128193340 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr10:128193340C>T uc001ljq.2 - 3 550 c.429G>A c.(427-429)ACG>ACA p.T143T C10orf90_uc001ljp.2_Silent_p.T96T|C10orf90_uc010qum.1_Silent_p.T240T|C10orf90_uc009yao.2_Silent_p.T240T|C10orf90_uc001ljs.1_Silent_p.T96T NM_001004298 NP_001004298 Q96M02 CJ090_HUMAN hypothetical protein LOC118611 143 ovary(1)|skin(1) 2 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CGCGTCTGGCCGTGATGGTGA 0.687000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MUC5B 727897 broad.mit.edu 37 11 1267092 1267092 + Silent SNP A A G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:1267092A>G uc009ycr.1 + 49 10857 c.10731A>G c.(10729-10731)ACA>ACG p.T3577T MUC5B_uc001ltb.2_Silent_p.T2997T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2994 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGATCCTCACAGAGCAGACCA 0.657000 MUC5B 727897 broad.mit.edu 37 11 1275540 1275540 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:1275540G>A uc009ycr.1 + 56 16573 c.16447G>A c.(16447-16449)GTC>ATC p.V5483I MUC5B_uc001ltb.2_Missense_Mutation_p.V5149I NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5146 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CATGGATATCGTCCTCACTGT 0.657000 BDNF 627 broad.mit.edu 37 11 27679474 27679474 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:27679474G>A uc010rdu.1 - 2 1489 c.638C>T c.(637-639)TCG>TTG p.S213L BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.S213L|BDNF_uc001mrt.2_Missense_Mutation_p.S228L|BDNF_uc010rdw.1_Missense_Mutation_p.S213L|BDNF_uc009yjd.2_Missense_Mutation_p.S213L|BDNF_uc001mru.2_Missense_Mutation_p.S213L|BDNF_uc010rdx.1_Missense_Mutation_p.S213L|BDNF_uc010rdy.1_Missense_Mutation_p.S213L|BDNF_uc009yjg.2_Missense_Mutation_p.S213L|BDNF_uc009yje.2_Missense_Mutation_p.S295L|BDNF_uc009yjf.2_Missense_Mutation_p.S242L|BDNF_uc001mrv.2_Missense_Mutation_p.S213L|BDNF_uc001mrw.3_Missense_Mutation_p.S213L|BDNF_uc001mrx.2_Missense_Mutation_p.S213L|BDNF_uc001mry.3_Missense_Mutation_p.S213L|BDNF_uc001mrz.3_Missense_Mutation_p.S213L|BDNF_uc001msa.2_Missense_Mutation_p.S221L NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 213 extracellular region growth factor activity 0 CCGCACGTACGACTGGGTAGT 0.473000 ATG2A 23130 broad.mit.edu 37 11 64673986 64673986 + Silent SNP C C T rs75814919 by1000genomes TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:64673986C>T uc001obx.2 - 21 3118 c.3003G>A c.(3001-3003)CCG>CCA p.P1001P NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1001 protein binding ovary(1)|central_nervous_system(1) 2 GACTGGGCAGCGGGTAGTCAT 0.677000 GAL3ST3 89792 broad.mit.edu 37 11 65810465 65810465 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:65810465C>T uc001ogv.2 - 2 969 c.809G>A c.(808-810)CGC>CAC p.R270H GAL3ST3_uc001ogw.2_Missense_Mutation_p.R270H NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 270 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 GCTGGCGGCGCGCGCGTTGAG 0.582000 RPS6KB2 6199 broad.mit.edu 37 11 67201943 67201943 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:67201943C>T uc001old.2 + 13 1225 c.1143C>T c.(1141-1143)AAC>AAT p.N381N RPS6KB2_uc001olf.2_Silent_p.N181N|RPS6KB2_uc001olg.2_Silent_p.N381N|RPS6KB2_uc009yrq.2_Silent_p.N181N|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Silent_p.N212N NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 381 AGC-kinase C-terminal. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGAGTGCCAACCAGGCCTTCC 0.637000 CABP4 57010 broad.mit.edu 37 11 67223662 67223662 + Missense_Mutation SNP C C T rs121917828 byFrequency TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:67223662C>T uc001olo.2 + 2 447 c.370C>T c.(370-372)CGC>TGC p.R124C CABP4_uc001oln.2_Missense_Mutation_p.R19C NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 124 R -> C (in CSNB2B). visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCTGCAGGACCGCGAACTGGG 0.677000 GAL 51083 broad.mit.edu 37 11 68456365 68456365 + Missense_Mutation SNP T T C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:68456365T>C uc001oob.2 + 5 490 c.272T>C c.(271-273)ATT>ACT p.I91T NM_015973 NP_057057 P22466 GALA_HUMAN galanin preproprotein 91 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity 0 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) CGCACAATCATTGAGTTTCTG 0.398000 C2CD2L 9854 broad.mit.edu 37 11 118986773 118986773 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr11:118986773G>A uc001pvo.2 + 14 2287 c.1928G>A c.(1927-1929)GGC>GAC p.G643D C2CD2L_uc001pvn.2_Missense_Mutation_p.G644D NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 643 integral to membrane 0 CTGCGCAGCGGCACTAAGCTC 0.632000 KDM5A 5927 broad.mit.edu 37 12 498207 498207 + Silent SNP T T C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:498207T>C uc001qif.1 - 1 414 c.51A>G c.(49-51)CCA>CCG p.P17P KDM5A_uc001qie.1_Silent_p.P17P|CCDC77_uc009zdk.2_5'Flank|CCDC77_uc010sdp.1_5'Flank|KDM5A_uc010sdn.1_Silent_p.P17P|KDM5A_uc010sdo.1_Silent_p.P17P NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 17 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CGGGGCACTCTGGCGGTGGCA 0.677000 T NUP98 AML CD163L1 283316 broad.mit.edu 37 12 7551181 7551181 + Splice_Site SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:7551181C>G uc001qsy.2 - 7 1435 c.1409_splice c.e7-1 p.D470_splice CD163L1_uc010sge.1_Splice_Site_p.D480_splice NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 TCTGCCTTATCTGCAAGCAAG 0.448000 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:25380275T>G uc001rgp.1 - 3 364 c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) OS9 10956 broad.mit.edu 37 12 58087953 58087953 + Silent SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:58087953G>C uc001spj.2 + 1 68 c.9G>C c.(7-9)GCG>GCC p.A3A OS9_uc010srx.1_Silent_p.A3A|OS9_uc001spk.2_Silent_p.A3A|OS9_uc001spl.2_Silent_p.A3A|OS9_uc001spm.2_Silent_p.A3A|OS9_uc001spn.2_Silent_p.A3A|OS9_uc010sry.1_Silent_p.A3A|OS9_uc010srz.1_Silent_p.A3A NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 3 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AGATGGCGGCGGAAACGCTGC 0.577000 LRRIQ1 84125 broad.mit.edu 37 12 85623340 85623340 + Missense_Mutation SNP A A C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:85623340A>C uc001tac.2 + 25 4979 c.4868A>C c.(4867-4869)AAA>ACA p.K1623T NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1623 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) GCAAATGAAAAATTAGAACGG 0.373000 VEZT 55591 broad.mit.edu 37 12 95660360 95660360 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:95660360C>T uc001tdz.2 + 5 767 c.662C>T c.(661-663)GCT>GTT p.A221V VEZT_uc009zsy.1_Missense_Mutation_p.A63V|VEZT_uc001tdr.2_Missense_Mutation_p.A63V|VEZT_uc001tds.2_Missense_Mutation_p.A173V|VEZT_uc001tdt.2_Missense_Mutation_p.A173V|VEZT_uc009zsz.1_Missense_Mutation_p.A221V|VEZT_uc001tdv.2_Missense_Mutation_p.A190V|VEZT_uc001tdw.1_Missense_Mutation_p.A173V|VEZT_uc009zta.1_Missense_Mutation_p.A173V NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 221 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 GTGAGAAAAGCTTTACGTCTC 0.353000 HCFC2 29915 broad.mit.edu 37 12 104492124 104492124 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:104492124G>A uc001tkj.3 + 13 1847 c.1744G>A c.(1744-1746)GAG>AAG p.E582K HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 582 Fibronectin type-III 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 AAATTAGAAAGAGACTCCTTC 0.338000 CRY1 1407 broad.mit.edu 37 12 107386583 107386583 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:107386583C>T uc001tmi.3 - 12 2602 c.1743G>A c.(1741-1743)CAG>CAA p.Q581Q NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 581 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 TGCTCTGTCTCTGGACTTTAG 0.368000 OAS3 4940 broad.mit.edu 37 12 113379501 113379501 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr12:113379501C>T uc001tug.2 + 2 391 c.304C>T c.(304-306)CGG>TGG p.R102W OAS3_uc001tue.2_Missense_Mutation_p.R102W|OAS3_uc001tuf.2_Missense_Mutation_p.R102W NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 102 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 CAGTGAGATGCGGGCATCGCT 0.587000 SACS 26278 broad.mit.edu 37 13 23928673 23928673 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr13:23928673G>A uc001uon.2 - 8 2667 c.2078C>T c.(2077-2079)TCA>TTA p.S693L SACS_uc001uoo.2_Missense_Mutation_p.S546L|SACS_uc001uop.1_Missense_Mutation_p.S480L|SACS_uc001uoq.1_Missense_Mutation_p.S546L NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 693 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) ATATTCTGCTGAGGTAATATA 0.468000 ITGBL1 9358 broad.mit.edu 37 13 102231736 102231736 + Nonsense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr13:102231736C>T uc001vpb.2 + 5 904 c.685C>T c.(685-687)CGA>TGA p.R229* ITGBL1_uc010agb.2_Nonsense_Mutation_p.R180*|ITGBL1_uc001vpc.3_Nonsense_Mutation_p.R88* NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 229 Cysteine-rich tandem repeats.|IV. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGAAAGCAAGCGAAGATGCAC 0.453000 SLC22A17 51310 broad.mit.edu 37 14 23817454 23817454 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:23817454C>T uc001wjl.2 - 5 810 c.754G>A c.(754-756)GCT>ACT p.A252T SLC22A17_uc010akk.2_Missense_Mutation_p.A34T|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.A252T NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 isoform a 252 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity 0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) ACAGACTGAGCCTCCTCAATC 0.642000 THTPA 79178 broad.mit.edu 37 14 24026387 24026387 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:24026387C>G uc001wkh.3 + 2 791 c.421C>G c.(421-423)CAG>GAG p.Q141E THTPA_uc001wkb.3_Intron|THTPA_uc001wkg.3_Missense_Mutation_p.Q141E|THTPA_uc010akr.2_Intron|THTPA_uc001wki.3_Intron NM_001126339 NP_001119811 Q9BU02 THTPA_HUMAN thiamine triphosphatase 141 dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process cytosol|nucleolus|soluble fraction thiamin-triphosphatase activity 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00643) Thiamine(DB00152) AGAGGAGCCACAGCTCAGGGT 0.577000 REC8 9985 broad.mit.edu 37 14 24648871 24648871 + Missense_Mutation SNP A A T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:24648871A>T uc001wmr.2 + 19 1817 c.1390A>T c.(1390-1392)ATG>TTG p.M464L REC8_uc001wms.2_Missense_Mutation_p.M464L NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 464 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) TGAGGTGCCCATGGAGATGCC 0.637000 PRKD1 5587 broad.mit.edu 37 14 30105555 30105555 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:30105555G>A uc001wqh.2 - 7 1312 c.1131C>T c.(1129-1131)AAC>AAT p.N377N NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 377 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGCCACTGTCGTTCTGGCACT 0.542000 LRFN5 145581 broad.mit.edu 37 14 42360992 42360992 + Missense_Mutation SNP A A G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:42360992A>G uc001wvm.2 + 4 3123 c.1925A>G c.(1924-1926)AAG>AGG p.K642R LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 642 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTGTCCCAAAAGCAGAAAAGA 0.448000 HNSCC(30;0.082) ZFYVE26 23503 broad.mit.edu 37 14 68220880 68220880 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:68220880G>A uc001xka.2 - 38 7175 c.7036C>T c.(7036-7038)CGG>TGG p.R2346W ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.R192W NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2346 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTTTCGCACCGATGCAAGAAC 0.517000 GOLGA5 9950 broad.mit.edu 37 14 93273162 93273162 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr14:93273162C>G uc001yaz.1 + 3 808 c.626C>G c.(625-627)CCT>CGT p.P209R NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 209 Cytoplasmic (Potential). Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) GCTGCCTGCCCTGACCACACC 0.423000 T RET papillary thyroid IGDCC4 57722 broad.mit.edu 37 15 65687476 65687476 + Missense_Mutation SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr15:65687476G>C uc002aou.1 - 8 1742 c.1532C>G c.(1531-1533)GCC>GGC p.A511G IGDCC4_uc002aot.1_Missense_Mutation_p.A99G NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 511 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGTGCGGCTGGCTCCCAGCTG 0.572000 UACA 55075 broad.mit.edu 37 15 70980090 70980090 + Missense_Mutation SNP A A G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr15:70980090A>G uc002asr.2 - 6 598 c.494T>C c.(493-495)GTA>GCA p.V165A UACA_uc010uke.1_Missense_Mutation_p.V165A|UACA_uc002asq.2_Missense_Mutation_p.V152A|UACA_uc010bin.1_Missense_Mutation_p.V151A NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 165 cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 CTAACTTACTACATCTTTGGC 0.363000 CHRNB4 1143 broad.mit.edu 37 15 78917483 78917483 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr15:78917483G>A uc002bed.1 - 6 1601 c.1489C>T c.(1489-1491)CGT>TGT p.R497C CHRNB4_uc002bee.1_Silent_p.S170S|uc002bef.1_5'Flank NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 497 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 CCTCAGTCACGCTGGGCAGCG 0.617000 GPRC5B 51704 broad.mit.edu 37 16 19883643 19883643 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr16:19883643G>A uc002dgt.2 - 2 633 c.525C>T c.(523-525)ATC>ATT p.I175I GPRC5B_uc010vav.1_Silent_p.I201I NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 175 Helical; Name=4; (Potential). lung(1)|breast(1)|skin(1) 3 CCACAGCGATGATGACTTGCA 0.672000 PARD6A 50855 broad.mit.edu 37 16 67695846 67695846 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr16:67695846C>T uc002ett.2 + 3 428 c.337C>T c.(337-339)CGC>TGC p.R113C ACD_uc002etp.3_5'Flank|ACD_uc002etq.3_5'Flank|ACD_uc002etr.3_5'Flank|ACD_uc010vjt.1_5'Flank|PARD6A_uc002ets.2_Missense_Mutation_p.R112C|PARD6A_uc002etu.2_5'UTR NM_016948 NP_058644 Q9NPB6 PAR6A_HUMAN par-6 partitioning defective 6 homolog alpha 113 Interaction with PRKCI and PRKCZ. cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction cytosol|nucleus|ruffle|tight junction GTP-dependent protein binding|Rho GTPase binding|transcription factor binding ovary(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TCTGCAGCGGCGCAAGAAAGG 0.617000 PMFBP1 83449 broad.mit.edu 37 16 72158753 72158753 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr16:72158753C>G uc002fcc.3 - 17 2689 c.2517G>C c.(2515-2517)AAG>AAC p.K839N PMFBP1_uc002fcd.2_Missense_Mutation_p.K834N|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.K689N|PMFBP1_uc010cgo.1_Missense_Mutation_p.K130N NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 839 Potential. ovary(2) 2 Ovarian(137;0.179) CTGCCAGCATCTTGAGGTCAT 0.547000 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) WDR16 146845 broad.mit.edu 37 17 9503472 9503472 + Missense_Mutation SNP T T A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr17:9503472T>A uc002gly.2 + 6 794 c.725T>A c.(724-726)GTT>GAT p.V242D WDR16_uc002glz.2_Missense_Mutation_p.V174D|WDR16_uc010coc.2_Missense_Mutation_p.V252D NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 242 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CTGACAGATGTTGGGCCTGCG 0.443000 MYH8 4626 broad.mit.edu 37 17 10301947 10301947 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr17:10301947G>A uc002gmm.2 - 30 4087 c.3992C>T c.(3991-3993)GCC>GTC p.A1331V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1331 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GTGTGCCAGGGCGTTCTTGGC 0.527000 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling DDX52 11056 broad.mit.edu 37 17 35993388 35993388 + Missense_Mutation SNP A A G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr17:35993388A>G uc002hoi.1 - 3 385 c.347T>C c.(346-348)ATT>ACT p.I116T DDX52_uc002hoh.1_Missense_Mutation_p.I8T|DDX52_uc002hoj.1_Missense_Mutation_p.I24T NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 116 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) TTTGTCTTCAATCTTTGCTTC 0.299000 ANKFN1 162282 broad.mit.edu 37 17 54428147 54428147 + Missense_Mutation SNP C C T rs141896298 byFrequency TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr17:54428147C>T uc002iun.1 + 4 253 c.218C>T c.(217-219)ACG>ATG p.T73M NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 73 large_intestine(1)|ovary(1) 2 GTGAAAATGACGCAACAAATG 0.388000 PTPRM 5797 broad.mit.edu 37 18 8113650 8113650 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr18:8113650C>T uc002knn.3 + 12 2526 c.2023C>T c.(2023-2025)CCT>TCT p.P675S PTPRM_uc010dkv.2_Missense_Mutation_p.P675S|PTPRM_uc010wzl.1_Missense_Mutation_p.P462S NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 675 Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AGCTGCGCAGCCTTTTACAAT 0.443000 SMAD4 4089 broad.mit.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr18:48591919G>A uc010xdp.1 + 9 1620 c.1082G>A c.(1081-1083)CGC>CAC p.R361H SMAD4_uc002lfb.3_Missense_Mutation_p.R206H NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 361 MH2. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGAGGAGATCGCTTTTGTTTG 0.413000 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia ZNF358 140467 broad.mit.edu 37 19 7584405 7584405 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:7584405G>A uc002mgn.2 + 2 447 c.277G>A c.(277-279)GAC>AAC p.D93N NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 93 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TTCGAGTTTCGACCTCGATCC 0.607000 MUC16 94025 broad.mit.edu 37 19 8959694 8959694 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:8959694G>A uc002mkp.2 - 84 43642 c.43438C>T c.(43438-43440)CGG>TGG p.R14480W MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R1280W|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 22125 Cytoplasmic (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTCTTCCGCCGGCGGGTGGTC 0.582000 MUC16 94025 broad.mit.edu 37 19 9089844 9089844 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:9089844C>T uc002mkp.2 - 1 2175 c.1971G>A c.(1969-1971)AAG>AAA p.K657K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 657 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGCAGCCGTCTTGCTCACTG 0.532000 RAB3A 5864 broad.mit.edu 37 19 18311172 18311172 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:18311172G>A uc002nie.2 - 3 481 c.312C>T c.(310-312)ATC>ATT p.I104I NM_002866 NP_002857 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 104 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity 0 CCTCGTTGGTGATGTCATACA 0.433000 HAPLN4 404037 broad.mit.edu 37 19 19369476 19369476 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:19369476G>A uc002nmb.2 - 4 728 c.673C>T c.(673-675)CGG>TGG p.R225W HAPLN4_uc002nmc.2_Missense_Mutation_p.R225W NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 225 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) TCCCGGGGCCGGTTCACGGGG 0.721000 CILP2 148113 broad.mit.edu 37 19 19656451 19656451 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:19656451C>T uc002nmv.3 + 8 3182 c.3097C>T c.(3097-3099)CGG>TGG p.R1033W CILP2_uc002nmw.3_Missense_Mutation_p.R1039W NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1033 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 TTACCTGACCCGGCACCCCCC 0.667000 WDR62 284403 broad.mit.edu 37 19 36558857 36558857 + Missense_Mutation SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:36558857G>C uc002odc.2 + 7 918 c.827G>C c.(826-828)GGC>GCC p.G276A WDR62_uc002odd.2_Missense_Mutation_p.G276A|WDR62_uc002odb.2_Missense_Mutation_p.G276A NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 276 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCTACTCGGGCCTCCTCTGC 0.597000 CYP2A13 1553 broad.mit.edu 37 19 41600209 41600209 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:41600209G>A uc002opt.2 + 7 1042 c.1033G>A c.(1033-1035)GAC>AAC p.D345N NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 345 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) CAAGTTTGAGGACCGGGCCAA 0.557000 SIGLEC14 100049587 broad.mit.edu 37 19 52149117 52149117 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:52149117G>A uc002pxf.3 - 3 738 c.618C>T c.(616-618)GAC>GAT p.D206D NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 206 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGGTGCCATGGTCCTCGGGCC 0.637000 NLRP4 147945 broad.mit.edu 37 19 56369621 56369621 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:56369621C>T uc002qmd.3 + 3 1284 c.862C>T c.(862-864)CGG>TGG p.R288W NLRP4_uc002qmf.2_Missense_Mutation_p.R213W|NLRP4_uc010etf.2_Missense_Mutation_p.R119W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 288 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAGGAGCTCCGGGATCAGGT 0.547000 HECW2 57520 broad.mit.edu 37 2 197184379 197184379 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr2:197184379C>T uc002utm.1 - 9 1418 c.1235G>A c.(1234-1236)CGT>CAT p.R412H HECW2_uc002utl.1_Missense_Mutation_p.R56H NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 412 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 TGAATCCTGACGTCCTCTGGG 0.527000 NIF3L1 60491 broad.mit.edu 37 2 201756971 201756971 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr2:201756971G>A uc002uwm.2 + 2 396 c.305G>A c.(304-306)CGC>CAC p.R102H PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_Missense_Mutation_p.R75H|NIF3L1_uc002uwn.2_Missense_Mutation_p.R75H|NIF3L1_uc002uwo.2_Missense_Mutation_p.R102H|NIF3L1_uc002uwp.2_Missense_Mutation_p.R102H|NIF3L1_uc002uwq.2_Missense_Mutation_p.R102H NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 102 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 CCCATGAAGCGCATAACCTGG 0.547000 TMC2 117532 broad.mit.edu 37 20 2597930 2597930 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr20:2597930C>T uc002wgf.1 + 16 2168 c.2153C>T c.(2152-2154)CCA>CTA p.P718L TMC2_uc002wgg.1_Missense_Mutation_p.P702L NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 718 Extracellular (Potential). integral to membrane ovary(3) 3 ATGTCCCTCCCACCCTCCTTT 0.622000 C20orf29 55317 broad.mit.edu 37 20 3804851 3804851 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr20:3804851C>T uc002wjs.1 + 3 688 c.510C>T c.(508-510)CTC>CTT p.L170L C20orf29_uc002wjt.2_Silent_p.L94L|C20orf29_uc002wju.1_Silent_p.L170L NM_018347 NP_060817 Q9NUS5 CT029_HUMAN hypothetical protein LOC55317 170 double-strand break repair via homologous recombination protein binding skin(1) 1 AGGGCATCCTCACCCGCTTCC 0.637000 TPTE 7179 broad.mit.edu 37 21 10951401 10951401 + Missense_Mutation SNP A A T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr21:10951401A>T uc002yip.1 - 10 679 c.311T>A c.(310-312)CTG>CAG p.L104Q TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L86Q|TPTE_uc002yir.1_Missense_Mutation_p.L66Q|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 104 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGTGACATCCAGTAAGACCAG 0.318000 PCNT 5116 broad.mit.edu 37 21 47786730 47786730 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr21:47786730C>T uc002zji.3 + 15 2948 c.2841C>T c.(2839-2841)GCC>GCT p.A947A PCNT_uc002zjj.2_Silent_p.A829A NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 947 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CACGTGTGGCCGAACTGCAGA 0.597000 GRM7 2917 broad.mit.edu 37 3 7494338 7494338 + Nonsense_Mutation SNP A A T rs144288627 TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:7494338A>T uc003bqm.2 + 6 1493 c.1219A>T c.(1219-1221)AAA>TAA p.K407* GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Nonsense_Mutation_p.K407*|GRM7_uc003bql.2_Nonsense_Mutation_p.K407*|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 407 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GCAGGAGGGTAAAGTCCAGTT 0.408000 DNAH1 25981 broad.mit.edu 37 3 52403955 52403955 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:52403955G>A uc011bef.1 + 38 6319 c.6058G>A c.(6058-6060)GAG>AAG p.E2020K NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2020 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCCTTCATCGAGTGCTGGCT 0.597000 EPHA6 285220 broad.mit.edu 37 3 96706450 96706450 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:96706450G>A uc010how.1 + 3 770 c.727G>A c.(727-729)GAC>AAC p.D243N EPHA6_uc003drp.1_Missense_Mutation_p.D243N NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 148 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TACAAAGATCGACACAATTGC 0.413000 CEP63 80254 broad.mit.edu 37 3 134256003 134256003 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:134256003C>T uc003eqo.1 + 7 897 c.448C>T c.(448-450)CGT>TGT p.R150C CEP63_uc003eql.1_Missense_Mutation_p.R150C|CEP63_uc003eqm.2_Missense_Mutation_p.R150C|CEP63_uc003eqn.1_Missense_Mutation_p.R150C NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 150 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 TCAGGAATTCCGTCAGAAATC 0.458000 IGSF10 285313 broad.mit.edu 37 3 151171512 151171512 + Missense_Mutation SNP A A T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:151171512A>T uc011bod.1 - 3 375 c.375T>A c.(373-375)TTT>TTA p.F125L NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 125 LRR 3. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGAGGCCATAAAAAGTATCTT 0.353000 P2RY1 5028 broad.mit.edu 37 3 152554282 152554282 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr3:152554282C>T uc003ezq.2 + 1 1547 c.711C>T c.(709-711)TAC>TAT p.Y237Y NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 237 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGGGCTGTTACGGATTAATTG 0.453000 SLIT2 9353 broad.mit.edu 37 4 20543118 20543118 + Silent SNP T T C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:20543118T>C uc003gpr.1 + 20 2223 c.2019T>C c.(2017-2019)GCT>GCC p.A673A SLIT2_uc003gps.1_Silent_p.A665A NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 673 LRRCT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GCTACCTGGCTTGGTTGGGAG 0.458000 SLIT2 9353 broad.mit.edu 37 4 20568884 20568884 + Splice_Site SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:20568884G>A uc003gpr.1 + 27 2930 c.2726_splice c.e27-1 p.G909_splice SLIT2_uc003gps.1_Splice_Site_p.G901_splice NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTAATTTTCAGGTCCTGTGGA 0.323000 RBM47 54502 broad.mit.edu 37 4 40438457 40438457 + Splice_Site SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:40438457C>T uc003gvc.2 - 5 2040 c.1330_splice c.e5+1 p.V444_splice RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_Splice_Site|RBM47_uc011bys.1_Splice_Site_p.V406_splice NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a nucleus nucleotide binding|RNA binding breast(3) 3 TTCATACTGACCTGTACCAGG 0.453000 RASSF6 166824 broad.mit.edu 37 4 74447534 74447534 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:74447534C>T uc003hhd.1 - 8 940 c.817G>A c.(817-819)GAA>AAA p.E273K RASSF6_uc003hhc.1_Missense_Mutation_p.E241K|RASSF6_uc010iik.1_Missense_Mutation_p.E207K|RASSF6_uc010iil.1_Missense_Mutation_p.E229K NM_201431 NP_958834 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family 6 273 Ras-associating. apoptosis|signal transduction protein binding pancreas(2) 2 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCTTTCTTACCTCCTGTTGCA 0.383000 SHROOM3 57619 broad.mit.edu 37 4 77677626 77677626 + Silent SNP A A T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:77677626A>T uc011cbx.1 + 8 5687 c.4734A>T c.(4732-4734)ACA>ACT p.T1578T SHROOM3_uc003hkg.2_Silent_p.T1356T NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1578 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CTAAAGTGACAATTGCAAGGG 0.333000 GRID2 2895 broad.mit.edu 37 4 94436497 94436497 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:94436497C>T uc011cdt.1 + 13 2386 c.2128C>T c.(2128-2130)CGG>TGG p.R710W GRID2_uc011cdu.1_Missense_Mutation_p.R615W NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 710 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CCAAATGTGGCGGATGATCAA 0.473000 FSTL5 56884 broad.mit.edu 37 4 162459360 162459360 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr4:162459360C>G uc003iqh.2 - 10 1706 c.1270G>C c.(1270-1272)GAC>CAC p.D424H FSTL5_uc003iqi.2_Missense_Mutation_p.D423H|FSTL5_uc010iqv.2_Missense_Mutation_p.D423H NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 424 Ig-like 2. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAAGAGATGTCTTCATCCACT 0.418000 ERBB2IP 55914 broad.mit.edu 37 5 65288672 65288672 + Silent SNP T T C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr5:65288672T>C uc003juk.1 + 3 434 c.126T>C c.(124-126)TTT>TTC p.F42F ERBB2IP_uc003juh.1_Silent_p.F42F|ERBB2IP_uc003jui.1_Silent_p.F42F|ERBB2IP_uc003juj.1_Silent_p.F42F|ERBB2IP_uc011cqx.1_Silent_p.F42F|ERBB2IP_uc011cqy.1_Silent_p.F42F|ERBB2IP_uc011cqz.1_Silent_p.F42F|ERBB2IP_uc010iwx.1_Silent_p.F42F|ERBB2IP_uc003jul.1_Silent_p.F42F NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 42 LRR 1. basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AAGAGATTTTTACTTTTGAAA 0.383000 ERBB2IP 55914 broad.mit.edu 37 5 65342364 65342364 + Missense_Mutation SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr5:65342364G>C uc003juk.1 + 18 2094 c.1786G>C c.(1786-1788)GAG>CAG p.E596Q ERBB2IP_uc003juh.1_Missense_Mutation_p.E592Q|ERBB2IP_uc003jui.1_Missense_Mutation_p.E596Q|ERBB2IP_uc003juj.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqx.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqy.1_Missense_Mutation_p.E596Q|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.E592Q|ERBB2IP_uc003jul.1_Missense_Mutation_p.E592Q NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 596 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TGATGTTTTTGAGGTATGATT 0.323000 ZNF366 167465 broad.mit.edu 37 5 71757272 71757272 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr5:71757272C>G uc003kce.1 - 2 238 c.52G>C c.(52-54)GCT>CCT p.A18P NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 18 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TTCTTCACAGCCAAGTCGAAA 0.512000 CMYA5 202333 broad.mit.edu 37 5 79026269 79026269 + Nonsense_Mutation SNP G G T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr5:79026269G>T uc003kgc.2 + 2 1753 c.1681G>T c.(1681-1683)GAG>TAG p.E561* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 561 Glu-rich. perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CAAAGAAGAAGAGCTTATTCT 0.438000 DOCK2 1794 broad.mit.edu 37 5 169129410 169129410 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr5:169129410G>A uc003maf.2 + 14 1442 c.1362G>A c.(1360-1362)GCG>GCA p.A454A DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_Silent_p.A5A NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 454 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGTGTGCGCGGAGGATGGCA 0.512000 OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC22A23 63027 broad.mit.edu 37 6 3287186 3287186 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:3287186C>T uc003mvm.3 - 7 1453 c.1453G>A c.(1453-1455)GTG>ATG p.V485M uc003mvi.1_RNA|SLC22A23_uc003mvn.3_Missense_Mutation_p.V204M|SLC22A23_uc003mvo.3_Missense_Mutation_p.V204M|SLC22A23_uc003mvp.1_RNA|SLC22A23_uc010jnn.2_Missense_Mutation_p.V485M|SLC22A23_uc003mvq.1_RNA NM_015482 NP_056297 A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 isoform a 485 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity ovary(1) 1 Ovarian(93;0.0493) all_hematologic(90;0.0905) CGGACCACCACGCACATGGCC 0.632000 KIAA0319 9856 broad.mit.edu 37 6 24596282 24596282 + Missense_Mutation SNP G G A rs141114963 TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:24596282G>A uc011djo.1 - 3 857 c.620C>T c.(619-621)GCG>GTG p.A207V KIAA0319_uc011djp.1_Missense_Mutation_p.A162V|KIAA0319_uc003neh.1_Missense_Mutation_p.A207V|KIAA0319_uc011djq.1_Missense_Mutation_p.A198V|KIAA0319_uc011djr.1_Missense_Mutation_p.A207V NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 207 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 CTGCGTCTCCGCTGGCACCGC 0.622000 SCUBE3 222663 broad.mit.edu 37 6 35205712 35205712 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:35205712G>A uc003okf.1 + 7 752 c.746G>A c.(745-747)AGT>AAT p.S249N SCUBE3_uc003okg.1_Missense_Mutation_p.S248N|SCUBE3_uc003okh.1_Missense_Mutation_p.S136N NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 249 EGF-like 6. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 GGCTGTGACAGTAAGTGCCAT 0.557000 TREML4 285852 broad.mit.edu 37 6 41196676 41196676 + Missense_Mutation SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:41196676G>A uc003oqc.2 + 2 392 c.288G>A c.(286-288)ATG>ATA p.M96I TREML4_uc003oqd.2_RNA NM_198153 NP_937796 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid 96 Ig-like V-type. extracellular region breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) ACATCACCATGATTCAGCTGA 0.468000 LMBRD1 55788 broad.mit.edu 37 6 70459254 70459254 + Missense_Mutation SNP C C A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:70459254C>A uc003pfa.2 - 5 567 c.452G>T c.(451-453)TGT>TTT p.C151F LMBRD1_uc003pez.2_Missense_Mutation_p.C78F|LMBRD1_uc010kal.2_Missense_Mutation_p.C78F|LMBRD1_uc003pfb.2_Intron NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 151 Helical; Name=4; (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 AAGCAGTGCACAAATCACAAC 0.284000 UTRN 7402 broad.mit.edu 37 6 145161925 145161925 + Silent SNP G G A TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr6:145161925G>A uc003qkt.2 + 72 10319 c.10227G>A c.(10225-10227)ACG>ACA p.T3409T NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 3409 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CGGATCTCACGGAGGTCATGG 0.507000 ITGB8 3696 broad.mit.edu 37 7 20421359 20421359 + Missense_Mutation SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr7:20421359G>C uc003suu.2 + 6 1516 c.811G>C c.(811-813)GGA>CGA p.G271R ITGB8_uc011jyh.1_Missense_Mutation_p.G136R|ITGB8_uc003sut.2_Missense_Mutation_p.G271R NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 271 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 GAGTCATATCGGATGGCGAAA 0.398000 GRM3 2913 broad.mit.edu 37 7 86416011 86416011 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr7:86416011C>T uc003uid.2 + 3 2002 c.903C>T c.(901-903)GAC>GAT p.D301D GRM3_uc010lef.2_Silent_p.D299D|GRM3_uc010leg.2_Silent_p.D173D|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 301 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGGCCAGCGACGGCTGGGGCG 0.692000 LRRC4 64101 broad.mit.edu 37 7 127670603 127670603 + Missense_Mutation SNP G G C TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr7:127670603G>C uc003vmk.2 - 2 228 c.91C>G c.(91-93)CTG>GTG p.L31V SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 31 cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GCTGCACACAGAATCCACACT 0.622000 HR 55806 broad.mit.edu 37 8 21976480 21976480 + Missense_Mutation SNP G G A rs148092652 TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr8:21976480G>A uc003xas.2 - 16 3861 c.3196C>T c.(3196-3198)CGC>TGC p.R1066C HR_uc003xat.2_Missense_Mutation_p.R1066C NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 1066 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGAAAGCGGCGGATGCGCTGG 0.682000 TG 7038 broad.mit.edu 37 8 133906030 133906030 + Missense_Mutation SNP C C G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr8:133906030C>G uc003ytw.2 + 11 2898 c.2857C>G c.(2857-2859)CTG>GTG p.L953V NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 953 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCGGTTCCCTCTGGGGGAGAG 0.582000 VPS13A 23230 broad.mit.edu 37 9 79853016 79853016 + Missense_Mutation SNP T T G TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr9:79853016T>G uc004akr.2 + 18 1954 c.1694T>G c.(1693-1695)TTC>TGC p.F565C VPS13A_uc004akp.3_Missense_Mutation_p.F565C|VPS13A_uc004akq.3_Missense_Mutation_p.F565C|VPS13A_uc004aks.2_Missense_Mutation_p.F565C NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 565 TPR 3. F -> L. Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ATGTCACTTTTCCAAATTACA 0.333000 NR5A1 2516 broad.mit.edu 37 9 127265456 127265456 + Missense_Mutation SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr9:127265456C>T uc004boo.1 - 3 333 c.146G>A c.(145-147)TGC>TAC p.C49Y NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 49 NR C4-type.|Nuclear receptor. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 GCTCTCGGTGCACGTGTAGTG 0.647000 TNMD 64102 broad.mit.edu 37 X 99854068 99854068 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chrX:99854068C>T uc004efy.3 + 6 859 c.633C>T c.(631-633)AAC>AAT p.N211N TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 211 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TTCCTGCCAACGAAAAAAAAG 0.423000 ZIC3 7547 broad.mit.edu 37 X 136651179 136651179 + Silent SNP C C T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chrX:136651179C>T uc004fak.2 + 2 1684 c.1179C>T c.(1177-1179)TGC>TGT p.C393C NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 393 C2H2-type 5. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCAAAGTGTGCGACAAGTCCT 0.532000 KCNK9 51305 broad.mit.edu 37 8 140630631 140630632 + Frame_Shift_Ins INS - - T TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr8:140630630_140630631G>GT uc003yvf.1 - 1 1059_1060 c.995_996C>AC c.(994-996)tacfs p.Y332fs KCNK9_uc003yvg.1_Frame_Shift_Ins_p.Y332fs|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 332 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CCTCGATCTTGTAAGAGATGGA 0.554 CD37 951 broad.mit.edu 37 19 49838857 49838858 + In_Frame_Ins INS - - CTG TCGA-CG-5719-01A-11D-1600-08 TCGA-CG-5719-10A-01D-1600-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06d82ba1-5010-48c8-a0e8-36fc009f9b70 1e859428-ed63-4752-a140-7587e742a171 g.chr19:49838856_49838857T>TCTG uc002pnd.3 + 0 180_181 c.59_60T>TCTG c.(58-60)ctc>cTCTG p.L20L AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_In_Frame_Ins_p.L20L|CD37_uc010yan.1_Intron|CD37_uc002pnf.3_Intron|CD37_uc002pne.3_Intron NM_001774 NP_001035120 P11049 CD37_HUMAN Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA. 20 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GTTTTCAACCTCTTCTTCTTCG 0.589