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 ACTRT2 140625 broad.mit.edu 37 1 2938986 2938986 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:2938986G>C uc001ajz.2 + 1 941 c.736G>C c.(736-738)GAC>CAC p.D246H NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 246 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CAAGCTGCCCGACGGGAACAT 0.652000 MFN2 9927 broad.mit.edu 37 1 12069766 12069766 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:12069766C>G uc001atn.3 + 18 2640 c.2187C>G c.(2185-2187)AGC>AGG p.S729R MFN2_uc009vni.2_Missense_Mutation_p.S729R NM_014874 NP_055689 O95140 MFN2_HUMAN mitofusin 2 729 Cytoplasmic (Potential).|Potential. blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CACTTCAGAGCAAAGCAAAGC 0.567000 CSMD2 114784 broad.mit.edu 37 1 34182101 34182101 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:34182101C>T uc001bxn.1 - 20 2911 c.2882G>A c.(2881-2883)GGT>GAT p.G961D CSMD2_uc001bxm.1_Missense_Mutation_p.G1001D NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 961 Extracellular (Potential).|CUB 6. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GAAGAACACACCTGCCAAGAG 0.522000 DIO1 1733 broad.mit.edu 37 1 54360179 54360179 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:54360179G>A uc010onx.1 + 1 319 c.296G>A c.(295-297)CGC>CAC p.R99H DIO1_uc010onw.1_Intron|DIO1_uc009vzl.2_Missense_Mutation_p.R99H|DIO1_uc001cwb.2_Missense_Mutation_p.R99H|DIO1_uc010ony.1_Missense_Mutation_p.R99H|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_Intron|DIO1_uc001cwg.2_Intron NM_000792 NP_000783 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I isoform a 99 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity 0 CCGGTGGTCCGCCTCTCAGGA 0.562000 GNG12 55970 broad.mit.edu 37 1 68171254 68171254 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:68171254C>T uc001dea.1 - 4 291 c.99G>A c.(97-99)TCG>TCA p.S33S NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN G-protein gamma-12 subunit precursor 33 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 CTGATGCCTTCGAAACCTGAC 0.348000 LPPR4 9890 broad.mit.edu 37 1 99772187 99772187 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:99772187C>T uc001dse.2 + 7 2019 c.1913C>T c.(1912-1914)TCC>TTC p.S638F LPPR4_uc010oue.1_Missense_Mutation_p.S580F NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 638 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CAGATCCCGTCCACTGAAGGT 0.542000 COL11A1 1301 broad.mit.edu 37 1 103544369 103544369 + Silent SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:103544369A>T uc001dul.2 - 3 651 c.333T>A c.(331-333)ATT>ATA p.I111I COL11A1_uc001dum.2_Silent_p.I111I|COL11A1_uc001dun.2_Silent_p.I111I|COL11A1_uc009weh.2_Silent_p.I111I NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 111 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGAAAGACTGAATTCCTTTTT 0.353000 ALX3 257 broad.mit.edu 37 1 110607471 110607471 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:110607471C>T uc001dzb.2 - 2 420 c.332G>A c.(331-333)CGA>CAA p.R111Q NM_006492 NP_006483 O95076 ALX3_HUMAN aristaless-like homeobox 3 111 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGCCCCCTCGGCAGTCCAA 0.632000 GJA5 2702 broad.mit.edu 37 1 147230319 147230319 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:147230319C>T uc001eps.1 - 2 1169 c.1028G>A c.(1027-1029)CGT>CAT p.R343H GJA5_uc001ept.1_Missense_Mutation_p.R343H NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 343 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CTTACTAAGACGTCGCTTGTC 0.542000 NUP210L 91181 broad.mit.edu 37 1 154127377 154127377 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:154127377G>A uc001fdw.2 - 1 216 c.144C>T c.(142-144)TTC>TTT p.F48F NUP210L_uc010peh.1_Silent_p.F48F NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 48 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GCTCTCGGCCGAAGGGTAGCA 0.582000 IGSF9 57549 broad.mit.edu 37 1 159906263 159906263 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:159906263C>T uc001fur.2 - 6 797 c.599G>A c.(598-600)AGC>AAC p.S200N IGSF9_uc001fuq.2_Missense_Mutation_p.S200N NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 200 Ig-like 2.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GACCCCAGAGCTGCCTCGCTC 0.662000 OREG0013921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TBX19 9095 broad.mit.edu 37 1 168260524 168260524 + Silent SNP C C T rs148222296 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:168260524C>T uc001gfl.2 + 2 381 c.330C>T c.(328-330)CCC>CCT p.P110P TBX19_uc001gfj.3_Silent_p.P41P NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 110 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) AATGGGTGCCCGCTGGCAAGC 0.597000 TNN 63923 broad.mit.edu 37 1 175087816 175087816 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:175087816G>A uc001gkl.1 + 11 2619 c.2506G>A c.(2506-2508)GGA>AGA p.G836R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 836 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTCTGCCAACGGAGAGACCAG 0.617000 FAM129A 116496 broad.mit.edu 37 1 184787881 184787881 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:184787881A>G uc001gra.2 - 9 1258 c.1064T>C c.(1063-1065)ATG>ACG p.M355T FAM129A_uc001grb.1_Missense_Mutation_p.M118T|FAM129A_uc009wyh.1_Missense_Mutation_p.M183T|FAM129A_uc009wyi.1_Missense_Mutation_p.M153T NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 355 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 CACTGGTCCCATGAGCTCCTC 0.532000 KIF14 9928 broad.mit.edu 37 1 200584676 200584676 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:200584676G>C uc010ppk.1 - 3 1613 c.1174C>G c.(1174-1176)CAC>GAC p.H392D KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 392 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GTGTCAGGGTGTTCCACAGTT 0.353000 TNNT2 7139 broad.mit.edu 37 1 201337322 201337322 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:201337322G>A uc001gwf.2 - 6 200 c.131C>T c.(130-132)GCA>GTA p.A44V TNNT2_uc001gwg.2_Missense_Mutation_p.A34V|TNNT2_uc001gwh.2_Missense_Mutation_p.A29V|TNNT2_uc001gwi.2_Missense_Mutation_p.A44V|TNNT2_uc009wzr.2_5'UTR|TNNT2_uc009wzs.1_5'Flank|TNNT2_uc001gwk.1_5'UTR|TNNT2_uc009wzt.1_Missense_Mutation_p.A34V|TNNT2_uc001gwl.1_RNA NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 44 ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 CTCAGCCTCTGCTTCAGCATC 0.612000 FAM177B 400823 broad.mit.edu 37 1 222920036 222920036 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:222920036A>C uc001hnt.2 + 3 415 c.149A>C c.(148-150)CAG>CCG p.Q50P uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA NM_207468 NP_997351 A6PVY3 F177B_HUMAN hypothetical protein LOC400823 50 ovary(1) 1 aaggaggagCAGAGCACAAAT 0.353000 OR2L3 391192 broad.mit.edu 37 1 248224383 248224383 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr1:248224383C>T uc001idx.1 + 1 400 c.400C>T c.(400-402)CGC>TGC p.R134C OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 134 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCCCATCCGCATGAGCAA 0.428000 DIP2C 22982 broad.mit.edu 37 10 402365 402365 + Splice_Site SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:402365C>A uc001ifp.2 - 24 3075 c.2985_splice c.e24+1 p.R995_splice DIP2C_uc009xhi.1_Splice_Site_p.R381_splice|DIP2C_uc010pzz.1_Missense_Mutation_p.V317L NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CCGCGCCTCACCCGACAGTTG 0.592000 CACNB2 783 broad.mit.edu 37 10 18827202 18827202 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:18827202C>T uc001ipr.2 + 13 1456 c.1396C>T c.(1396-1398)CCT>TCT p.P466S CACNB2_uc009xjz.1_Missense_Mutation_p.P216S|CACNB2_uc001ips.2_Missense_Mutation_p.P442S|CACNB2_uc001ipt.2_Missense_Mutation_p.P428S|CACNB2_uc001ipu.2_Missense_Mutation_p.P438S|CACNB2_uc001ipv.2_Missense_Mutation_p.P414S|CACNB2_uc009xka.1_Missense_Mutation_p.P400S|CACNB2_uc001ipw.2_Missense_Mutation_p.P373S|CACNB2_uc001ipx.2_Missense_Mutation_p.P411S|CACNB2_uc001ipz.2_Missense_Mutation_p.P388S|CACNB2_uc001ipy.2_Missense_Mutation_p.P412S|CACNB2_uc010qco.1_Missense_Mutation_p.P380S|CACNB2_uc001iqa.2_Missense_Mutation_p.P418S|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 466 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGCCACCCATCCTCCCAGCAG 0.557000 NEBL 10529 broad.mit.edu 37 10 21461326 21461327 + Missense_Mutation DNP CT CT AA TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:21461326_21461327CT>AA uc001iqk.2 - 2 503_504 c.149_150AG>TT c.(148-150)AAG>ATT p.K50I NM_213569 NP_998734 O76041 NEBL_HUMAN nebulette non-muscle isoform 712 Nebulin 20. RAKENQKNISNVYYRGQLGRA -> PKETRKTSACLLQSSA GES (in Ref. 2; AAF24858). regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 TACAATAGGGCTTCTTTTCATA 0.431000 LRRC18 474354 broad.mit.edu 37 10 50121975 50121975 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:50121975G>A uc001jhd.2 - 1 306 c.226C>T c.(226-228)CGG>TGG p.R76W WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R76W NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 76 LRR 3. cytoplasm ovary(1)|pancreas(1) 2 TCCAGCCACCGGAGGTTCTGG 0.547000 COL13A1 1305 broad.mit.edu 37 10 71684726 71684726 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:71684726G>A uc001jpr.1 + 23 1795 c.1259G>A c.(1258-1260)CGT>CAT p.R420H COL13A1_uc001jqj.1_Missense_Mutation_p.R420H|COL13A1_uc001jps.1_Missense_Mutation_p.R391H|COL13A1_uc001jpt.1_Missense_Mutation_p.R379H|COL13A1_uc001jpu.1_Missense_Mutation_p.R401H|COL13A1_uc001jpv.1_Missense_Mutation_p.R420H|COL13A1_uc001jpx.1_Missense_Mutation_p.R398H|COL13A1_uc001jpw.1_Missense_Mutation_p.R367H|COL13A1_uc001jpy.1_Missense_Mutation_p.R358H|COL13A1_uc001jpz.1_Missense_Mutation_p.R363H|COL13A1_uc001jqa.1_Missense_Mutation_p.R360H|COL13A1_uc001jqc.1_Missense_Mutation_p.R420H|COL13A1_uc001jqb.1_Missense_Mutation_p.R369H|COL13A1_uc001jql.2_Missense_Mutation_p.R420H|COL13A1_uc001jqd.1_Missense_Mutation_p.R408H|COL13A1_uc001jqe.1_Missense_Mutation_p.R403H|COL13A1_uc001jqf.1_Missense_Mutation_p.R401H|COL13A1_uc001jqg.1_Missense_Mutation_p.R398H|COL13A1_uc001jqh.1_Missense_Mutation_p.R420H|COL13A1_uc001jqi.1_Missense_Mutation_p.R420H|COL13A1_uc010qjf.1_Missense_Mutation_p.R210H|COL13A1_uc001jqk.1_Missense_Mutation_p.R258H NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 420 Extracellular (Potential).|Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CAGGGGGAGCGTGGAGCAGCT 0.512000 ECD 11319 broad.mit.edu 37 10 74906052 74906052 + Nonsense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:74906052G>C uc001jtn.2 - 9 1352 c.1109C>G c.(1108-1110)TCA>TGA p.S370* ECD_uc009xqx.2_Nonsense_Mutation_p.S370*|ECD_uc009xqy.2_Nonsense_Mutation_p.S327*|ECD_uc001jto.2_Nonsense_Mutation_p.S69* NM_007265 NP_009196 O95905 SGT1_HUMAN suppressor of S. cerevisiae gcr2 isoform 1 370 regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus transcription coactivator activity pancreas(1) 1 Prostate(51;0.0119) CCAGTCTACTGAGAGCTGGAA 0.328000 ZMYND17 118490 broad.mit.edu 37 10 75185821 75185821 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:75185821C>T uc001jud.2 - 5 883 c.817G>A c.(817-819)GTG>ATG p.V273M ZMYND17_uc001juc.2_Missense_Mutation_p.V273M|ZMYND17_uc009xrh.2_Missense_Mutation_p.V296M|ZMYND17_uc009xrg.2_Intron NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN zinc finger, MYND domain containing 17 273 zinc ion binding ovary(1) 1 Prostate(51;0.0119) AATGTCTCCACATGGGAAGCA 0.547000 SORCS3 22986 broad.mit.edu 37 10 106982932 106982932 + Silent SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr10:106982932C>G uc001kyi.1 + 20 3020 c.2793C>G c.(2791-2793)GTC>GTG p.V931V SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 931 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) ATAAGGAGGTCAACATCAGTG 0.443000 PHRF1 57661 broad.mit.edu 37 11 598413 598413 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:598413C>T uc001lqe.2 + 9 1066 c.935C>T c.(934-936)GCC>GTC p.A312V PHRF1_uc010qwc.1_Missense_Mutation_p.A312V|PHRF1_uc010qwd.1_Missense_Mutation_p.A311V|PHRF1_uc010qwe.1_Missense_Mutation_p.A308V|PHRF1_uc009ybz.1_Missense_Mutation_p.A103V NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 312 Arg-rich. RNA polymerase binding|zinc ion binding 0 CTGGATGAAGCCATCGAGGCT 0.652000 PHRF1 57661 broad.mit.edu 37 11 607264 607264 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:607264A>G uc001lqe.2 + 14 1939 c.1808A>G c.(1807-1809)GAC>GGC p.D603G PHRF1_uc010qwc.1_Missense_Mutation_p.D602G|PHRF1_uc010qwd.1_Missense_Mutation_p.D601G|PHRF1_uc010qwe.1_Missense_Mutation_p.D599G|PHRF1_uc009ybz.1_Missense_Mutation_p.D393G|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 603 RNA polymerase binding|zinc ion binding 0 GTGAGGCTGGACTTGCCAGCA 0.672000 RBMXL2 27288 broad.mit.edu 37 11 7111351 7111351 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:7111351G>A uc001mfc.2 + 1 1187 c.1000G>A c.(1000-1002)GAC>AAC p.D334N NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 334 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGCCGGAGCGACCGCTACTC 0.647000 SCUBE2 57758 broad.mit.edu 37 11 9048919 9048919 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:9048919C>T uc001mhh.1 - 19 2686 c.2606G>A c.(2605-2607)CGG>CAG p.R869Q SCUBE2_uc001mhi.1_Missense_Mutation_p.R841Q|SCUBE2_uc001mhj.1_Intron NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 869 CUB. extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ACAGGTTTTCCGCATCACCAG 0.592000 CCDC73 493860 broad.mit.edu 37 11 32635062 32635062 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:32635062C>G uc001mtv.2 - 16 2846 c.2802G>C c.(2800-2802)GAG>GAC p.E934D NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 934 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) CTAGTGGTCTCTCCTTCAGCA 0.398000 OR5M8 219484 broad.mit.edu 37 11 56258070 56258070 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:56258070G>A uc001nix.1 - 1 777 c.777C>T c.(775-777)CTC>CTT p.L259L NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) AGGGGGGTCTGAGATACATGA 0.413000 RTN4RL2 349667 broad.mit.edu 37 11 57244117 57244117 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:57244117C>T uc010rjt.1 + 3 996 c.996C>T c.(994-996)TAC>TAT p.Y332Y NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 332 axon regeneration anchored to plasma membrane receptor activity 0 ACCACCTGTACGGGGTGGCCG 0.577000 SF3B2 10992 broad.mit.edu 37 11 65827302 65827302 + Missense_Mutation SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:65827302A>T uc001ogy.1 + 13 1491 c.1451A>T c.(1450-1452)GAC>GTC p.D484V NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 484 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 ACAGCGCAGGACCCTAAGCTC 0.562000 TCIRG1 10312 broad.mit.edu 37 11 67816583 67816583 + Missense_Mutation SNP C C T rs61730880 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:67816583C>T uc001one.2 + 15 1817 c.1709C>T c.(1708-1710)ACG>ATG p.T570M TCIRG1_uc001ong.2_Missense_Mutation_p.T354M|TCIRG1_uc001onh.2_Missense_Mutation_p.T272M|TCIRG1_uc001oni.2_Missense_Mutation_p.T74M|TCIRG1_uc009ysd.2_5'Flank NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 570 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 CTGCTGGAGACGCTGCCGGAG 0.672000 RSF1 51773 broad.mit.edu 37 11 77412169 77412169 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:77412169T>C uc001oyn.2 - 6 2225 c.2105A>G c.(2104-2106)CAA>CGA p.Q702R RSF1_uc001oym.2_Missense_Mutation_p.Q450R NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 702 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TTTGCTTTTTTGCATAGAACC 0.403000 DYNC2H1 79659 broad.mit.edu 37 11 103027275 103027275 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:103027275G>A uc001pho.2 + 26 4047 c.3903G>A c.(3901-3903)CAG>CAA p.Q1301Q DYNC2H1_uc001phn.1_Silent_p.Q1301Q|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1301 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TAGTAAATCAGGTTGGAGATA 0.343000 EXPH5 23086 broad.mit.edu 37 11 108383768 108383768 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:108383768G>A uc001pkk.2 - 6 2577 c.2466C>T c.(2464-2466)TTC>TTT p.F822F EXPH5_uc010rvy.1_Silent_p.F634F|EXPH5_uc010rvz.1_Silent_p.F666F|EXPH5_uc010rwa.1_Silent_p.F746F NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 822 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CTGTCCTGGGGAAAGATGGTG 0.388000 ETS1 2113 broad.mit.edu 37 11 128359355 128359355 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr11:128359355C>A uc010sbs.1 - 3 549 c.233G>T c.(232-234)CGG>CTG p.R78L ETS1_uc001qej.2_Missense_Mutation_p.R122L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.R78L NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 78 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CACCCAGTCCCGAACATGGGT 0.527000 LRTM2 654429 broad.mit.edu 37 12 1943618 1943618 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:1943618G>C uc001qjt.2 + 5 1650 c.844G>C c.(844-846)GGG>CGG p.G282R CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.G282R|LRTM2_uc010sdx.1_Missense_Mutation_p.G282R|LRTM2_uc001qjv.2_Missense_Mutation_p.G44R NM_001039029 NP_001034118 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 282 Extracellular (Potential). integral to membrane large_intestine(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) GCCCAAGCCCGGGGCTGAGCC 0.667000 CD163L1 283316 broad.mit.edu 37 12 7528429 7528429 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:7528429T>C uc001qsy.2 - 10 2579 c.2553A>G c.(2551-2553)GGA>GGG p.G851G CD163L1_uc010sge.1_Silent_p.G861G NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 851 SRCR 8.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CATTCCCTTTTCCAAAGTGAT 0.448000 SLC2A3 6515 broad.mit.edu 37 12 8074090 8074090 + Silent SNP G G A rs146012904 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:8074090G>A uc001qtr.2 - 10 1672 c.1410C>T c.(1408-1410)CAC>CAT p.H470H NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 470 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TATCTGCACCGTGTGCCTGCC 0.527000 OVCH1 341350 broad.mit.edu 37 12 29596410 29596410 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:29596410G>C uc001rix.1 - 25 3041 c.3041C>G c.(3040-3042)CCT>CGT p.P1014R NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 1014 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTGATTTAAAGGGGCTACTAA 0.338000 WNT1 7471 broad.mit.edu 37 12 49373448 49373448 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:49373448G>T uc001rsu.2 + 2 500 c.302G>T c.(301-303)CGC>CTC p.R101L NM_005430 NP_005421 P04628 WNT1_HUMAN wingless-type MMTV integration site family, 101 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding kidney(1) 1 BRCA - Breast invasive adenocarcinoma(357;0.244) CGGAATCGCCGCTGGAACTGT 0.657000 KRT83 3889 broad.mit.edu 37 12 52714852 52714852 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:52714852C>T uc001saf.2 - 1 331 c.268G>A c.(268-270)GAG>AAG p.E90K NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 90 Head. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGAGGCTCTCGTTGACCGAC 0.667000 NEUROD4 58158 broad.mit.edu 37 12 55420636 55420636 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:55420636C>A uc001sgp.3 + 2 791 c.413C>A c.(412-414)GCT>GAT p.A138D NM_021191 NP_067014 Q9HD90 NDF4_HUMAN neurogenic differentiation 4 138 Helix-loop-helix motif. amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 TATATTTGGGCTTTATCTGAA 0.502000 GEFT 115557 broad.mit.edu 37 12 58009044 58009044 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:58009044G>T uc001spb.2 + 11 1445 c.985G>T c.(985-987)GTG>TTG p.V329L GEFT_uc009zpy.2_Missense_Mutation_p.V368L|GEFT_uc001soz.1_Intron|GEFT_uc001spa.2_Missense_Mutation_p.V223L|uc001spc.2_RNA|GEFT_uc001spd.2_Missense_Mutation_p.V34L NM_182947 NP_891992 Q86VW2 ARHGP_HUMAN RhoA/RAC/CDC42 exchange factor isoform 1 329 DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity 0 Melanoma(17;0.122) CATGTGCTTTGTGCCCAAGCG 0.572000 NAV3 89795 broad.mit.edu 37 12 78334097 78334097 + Splice_Site SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:78334097A>G uc001syp.2 + 2 417 c.244_splice c.e2-2 p.I82_splice NAV3_uc001syo.2_Splice_Site_p.I82_splice NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCTGTTCAACAGATTTACACT 0.443000 HNSCC(70;0.22) NAV3 89795 broad.mit.edu 37 12 78573323 78573323 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:78573323C>A uc001syp.2 + 29 5551 c.5378C>A c.(5377-5379)ACA>AAA p.T1793K NAV3_uc001syo.2_Missense_Mutation_p.T1771K|NAV3_uc010sub.1_Missense_Mutation_p.T1250K|NAV3_uc009zsf.2_Missense_Mutation_p.T602K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1793 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGTGAATGCACAGAAGCTGAG 0.468000 HNSCC(70;0.22) UTP20 27340 broad.mit.edu 37 12 101684666 101684666 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:101684666A>G uc001tia.1 + 8 1047 c.891A>G c.(889-891)CAA>CAG p.Q297Q UTP20_uc009ztz.1_Silent_p.Q297Q NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 297 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 AATGTTTGCAAGTGAGTTCTA 0.333000 TRPV4 59341 broad.mit.edu 37 12 110232195 110232195 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr12:110232195G>T uc001tpj.1 - 7 1525 c.1430C>A c.(1429-1431)TCC>TAC p.S477Y TRPV4_uc001tpg.1_Missense_Mutation_p.S443Y|TRPV4_uc001tph.1_Missense_Mutation_p.S430Y|TRPV4_uc001tpi.1_Missense_Mutation_p.S370Y|TRPV4_uc001tpk.1_Missense_Mutation_p.S477Y|TRPV4_uc001tpl.1_Missense_Mutation_p.S417Y NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 477 Helical; (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 ACACAGGTAGGAGACCACGTT 0.627000 TPTE2 93492 broad.mit.edu 37 13 20025355 20025355 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr13:20025355C>T uc001umd.2 - 12 963 c.752G>A c.(751-753)CGG>CAG p.R251Q TPTE2_uc009zzk.2_RNA|TPTE2_uc009zzl.2_Missense_Mutation_p.R140Q|TPTE2_uc001ume.2_Missense_Mutation_p.R174Q|TPTE2_uc009zzm.2_Intron|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 251 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ATCTAGAAACCGCACAACTTC 0.338000 NBEA 26960 broad.mit.edu 37 13 36223918 36223918 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr13:36223918A>G uc001uvb.2 + 51 8040 c.7834A>G c.(7834-7836)ATC>GTC p.I2612V NBEA_uc010abi.2_Missense_Mutation_p.I1268V|NBEA_uc010tee.1_Missense_Mutation_p.I405V|NBEA_uc010tef.1_Missense_Mutation_p.I405V|NBEA_uc001uvd.2_Missense_Mutation_p.I190V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2612 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CCACTTGACCATCCCCGCAGT 0.468000 PCDH17 27253 broad.mit.edu 37 13 58207577 58207577 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr13:58207577G>C uc001vhq.1 + 1 1789 c.897G>C c.(895-897)AAG>AAC p.K299N PCDH17_uc010aec.1_Missense_Mutation_p.K299N NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 299 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCGACCCCAAGACCGGCCTAA 0.592000 ANKRD10 55608 broad.mit.edu 37 13 111563089 111563089 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr13:111563089G>A uc001vrn.2 - 2 374 c.239C>T c.(238-240)GCG>GTG p.A80V ANKRD10_uc001vro.1_Missense_Mutation_p.A80V|ANKRD10_uc001vrp.1_Missense_Mutation_p.A80V NM_017664 NP_060134 Q9NXR5 ANR10_HUMAN ankyrin repeat domain 10 80 ANK 2. central_nervous_system(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208) TGTGGCTCCCGCTCTCACCAA 0.507000 OR4N2 390429 broad.mit.edu 37 14 20296431 20296431 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr14:20296431A>G uc010tkv.1 + 1 824 c.824A>G c.(823-825)CAC>CGC p.H275R NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 275 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCTCTTCCACACAGTGATT 0.433000 AKAP6 9472 broad.mit.edu 37 14 33290805 33290805 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr14:33290805C>T uc001wrq.2 + 13 3956 c.3786C>T c.(3784-3786)GAC>GAT p.D1262D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1262 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGGTTATGACGAGGAGGCTG 0.453000 SOS2 6655 broad.mit.edu 37 14 50587046 50587046 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr14:50587046G>A uc001wxs.3 - 22 3534 c.3436C>T c.(3436-3438)CCT>TCT p.P1146S SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.P1113S NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1146 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) AGAGGAGGAGGAATCAGGGGC 0.378000 KCNH5 27133 broad.mit.edu 37 14 63174364 63174364 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr14:63174364C>T uc001xfx.2 - 11 2880 c.2829G>A c.(2827-2829)TCG>TCA p.S943S KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 943 CAD (involved in subunit assembly) (By similarity).|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CGCTTTTTTCCGACAGTATTT 0.478000 C15orf2 23742 broad.mit.edu 37 15 24921098 24921098 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr15:24921098G>A uc001ywo.2 + 1 558 c.84G>A c.(82-84)CTG>CTA p.L28L NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 28 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCGCTCCCCTGTCCCGGGACG 0.706000 MEGF11 84465 broad.mit.edu 37 15 66191074 66191074 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr15:66191074T>C uc002apm.2 - 22 3107 c.2966A>G c.(2965-2967)TAT>TGT p.Y989C MEGF11_uc002apl.2_Missense_Mutation_p.Y914C|MEGF11_uc002apn.1_Missense_Mutation_p.Y989C NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 989 basolateral plasma membrane|integral to membrane pancreas(1) 1 ACCAACTTCATATATATTTTT 0.433000 NR2F2 7026 broad.mit.edu 37 15 96877403 96877403 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr15:96877403T>C uc010uri.1 + 2 1765 c.541T>C c.(541-543)TAT>CAT p.Y181H NR2F2_uc002btp.2_Missense_Mutation_p.Y48H|NR2F2_uc010urj.1_Missense_Mutation_p.Y28H|NR2F2_uc010urk.1_Missense_Mutation_p.Y28H NM_021005 NP_066285 P24468 COT2_HUMAN nuclear receptor subfamily 2, group F, member 2 181 Interaction with ZFPM2 (By similarity). lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment nucleus ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(1) 3 Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297) OV - Ovarian serous cystadenocarcinoma(32;0.0856) CCTGTCCGGATATATTTCCCT 0.622000 CLCN7 1186 broad.mit.edu 37 16 1505133 1505133 + Splice_Site SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr16:1505133A>G uc002clv.2 - 12 1208 c.1098_splice c.e12+1 p.E366_splice CLCN7_uc002clw.2_Splice_Site_p.E342_splice NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) GGGGCAGGTTACCTCCGAGTC 0.537000 CD2BP2 10421 broad.mit.edu 37 16 30364821 30364821 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr16:30364821C>T uc002dxr.2 - 4 929 c.676G>A c.(676-678)GCT>ACT p.A226T CD2BP2_uc002dxs.2_Missense_Mutation_p.A226T NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 226 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 AGACGCATAGCCAACCGTTCC 0.632000 CNTNAP4 85445 broad.mit.edu 37 16 76569621 76569621 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr16:76569621C>T uc002feu.1 + 20 3320 c.2935C>T c.(2935-2937)CCC>TCC p.P979S CNTNAP4_uc002fev.1_Missense_Mutation_p.P843S|CNTNAP4_uc010chb.1_Missense_Mutation_p.P906S|CNTNAP4_uc002fex.1_Missense_Mutation_p.P982S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 979 Extracellular (Potential).|EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 CAGAGAAAGACCCATTGGGTT 0.478000 TP53 7157 broad.mit.edu 37 17 7579368 7579368 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:7579368A>C uc002gim.2 - 4 513 c.319T>G c.(319-321)TAC>GAC p.Y107D TP53_uc002gig.1_Missense_Mutation_p.Y107D|TP53_uc002gih.2_Missense_Mutation_p.Y107D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.Y107D|TP53_uc010cni.1_Missense_Mutation_p.Y107D|TP53_uc002gij.2_Missense_Mutation_p.Y107D|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.Y68D|TP53_uc010cnk.1_Missense_Mutation_p.Y122D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 107 Interaction with HIPK1 (By similarity).||Interaction with WWOX. Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in a sporadic cancer; somatic mutation).|Y -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.Y107*(6)|p.Y107Y(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107Q(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.Y107D(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107C(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGAAACCGTAGCTGCCCTGG 0.617000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH10 4628 broad.mit.edu 37 17 8415782 8415782 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:8415782T>G uc002gll.2 - 22 2942 c.2846A>C c.(2845-2847)CAA>CCA p.Q949P MYH10_uc002glm.2_Missense_Mutation_p.Q980P|MYH10_uc010cnx.2_Missense_Mutation_p.Q958P NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 949 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 AATATGTGCTTGCATTTTTTT 0.308000 SLC13A2 9058 broad.mit.edu 37 17 26816245 26816245 + Missense_Mutation SNP C C T rs78103056 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:26816245C>T uc002hbh.2 + 2 183 c.116C>T c.(115-117)GCG>GTG p.A39V SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.1_5'UTR|SLC13A2_uc010wan.1_Missense_Mutation_p.A39V|SLC13A2_uc010wao.1_Intron|SLC13A2_uc002hbi.2_5'UTR NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 39 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GCCTACTGCGCGTATGCCATC 0.607000 ACACA 31 broad.mit.edu 37 17 35454770 35454770 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:35454770T>C uc002hnm.2 - 53 6795 c.6604A>G c.(6604-6606)ATT>GTT p.I2202V ACACA_uc002hnk.2_Missense_Mutation_p.I2124V|ACACA_uc002hnl.2_Missense_Mutation_p.I2144V|ACACA_uc002hnn.2_Missense_Mutation_p.I2202V|ACACA_uc002hno.2_Missense_Mutation_p.I2239V|ACACA_uc010cuy.2_Missense_Mutation_p.I847V|ACACA_uc010wdb.1_Missense_Mutation_p.I240V|ACACA_uc010wdc.1_Missense_Mutation_p.I328V NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 2202 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTTACGCTAATAACACCCTTC 0.522000 KRT36 8689 broad.mit.edu 37 17 39643839 39643839 + Missense_Mutation SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:39643839A>T uc002hwt.2 - 4 850 c.850T>A c.(850-852)TTC>ATC p.F284I NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 284 Rod.|Coil 2. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TGGGTGTTGAACCAGGCCTCC 0.607000 PLCD3 113026 broad.mit.edu 37 17 43197709 43197709 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:43197709C>T uc002iib.2 - 4 781 c.667G>A c.(667-669)GCC>ACC p.A223T NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN phospholipase C delta 3 223 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|lung(1) 3 Phosphatidylserine(DB00144) AGGAGGTAGGCGTACATGTCG 0.572000 DDX5 1655 broad.mit.edu 37 17 62500356 62500356 + Nonsense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:62500356A>C uc002jek.2 - 3 538 c.291T>G c.(289-291)TAT>TAG p.Y97* CCDC45_uc002jem.2_5'Flank|CCDC45_uc002jen.2_5'Flank|CCDC45_uc010wqb.1_5'Flank|DDX5_uc010deh.2_Nonsense_Mutation_p.Y97*|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank NM_004396 NP_004387 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 97 Q motif. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity ovary(2)|lung(1) 3 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AATTGGCTTCATAAAAATTTA 0.388000 T ETV4 prostate SOCS3 9021 broad.mit.edu 37 17 76354533 76354534 + Missense_Mutation DNP CG CG AA TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:76354533_76354534CG>AA uc002jvl.2 - 2 1059_1060 c.643_644CG>TT c.(643-645)CGG>TTG p.R215L NM_003955 NP_003946 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 215 SOCS box. anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) CAGGAACTCCCGAATGGGCCCC 0.624000 USP36 57602 broad.mit.edu 37 17 76803161 76803161 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:76803161T>C uc002jvz.1 - 14 2290 c.1965A>G c.(1963-1965)CCA>CCG p.P655P USP36_uc002jwa.1_Silent_p.P655P|USP36_uc002jwb.1_Silent_p.P292P|USP36_uc002jwc.1_Silent_p.P355P NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 655 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTGCTCCACTTGGCGGCGTTT 0.587000 CANT1 124583 broad.mit.edu 37 17 76989930 76989930 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:76989930C>G uc002jwn.2 - 6 1347 c.908G>C c.(907-909)AGC>ACC p.S303T CANT1_uc002jwk.2_Missense_Mutation_p.S303T|CANT1_uc002jwj.2_Missense_Mutation_p.S303T|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 303 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCGCTCCTGGCTGGCGCGGCG 0.677000 T ETV4 prostate C18orf34 374864 broad.mit.edu 37 18 30847250 30847250 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr18:30847250C>A uc002kxn.2 - 12 1330 c.1188G>T c.(1186-1188)TTG>TTT p.L396F C18orf34_uc010dme.1_5'Flank|C18orf34_uc010xbr.1_Missense_Mutation_p.L396F|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L396F|C18orf34_uc002kxp.2_Missense_Mutation_p.L396F NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 396 Potential. ovary(1) 1 AAACTCTTCTCAAATCTTCCA 0.264000 C18orf54 162681 broad.mit.edu 37 18 51904563 51904563 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr18:51904563C>T uc002lfn.3 + 8 1182 c.1066C>T c.(1066-1068)CGC>TGC p.R356C C18orf54_uc002lfo.3_Missense_Mutation_p.R517C NM_173529 NP_775800 Q8IYD9 CR054_HUMAN hypothetical protein LOC162681 precursor 356 extracellular region ovary(1)|skin(1) 2 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) CCATTTATCTCGCCTGAGAGA 0.363000 FBN3 84467 broad.mit.edu 37 19 8140221 8140221 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:8140221G>A uc002mjf.2 - 59 7549 c.7528C>T c.(7528-7530)CGC>TGC p.R2510C FBN3_uc002mje.2_Intron NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2510 EGF-like 41; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CATTCACAGCGGAAGCTGCCC 0.617000 WIZ 58525 broad.mit.edu 37 19 15538061 15538061 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:15538061G>A uc002nbc.2 - 4 1358 c.1335C>T c.(1333-1335)CCC>CCT p.P445P WIZ_uc002nba.3_Silent_p.P312P|WIZ_uc002nbb.3_Silent_p.P271P NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1128 Pro-rich. nucleus zinc ion binding 0 GAAGGTCCGAGGGGCTGCGGG 0.667000 PIK3R2 5296 broad.mit.edu 37 19 18273284 18273284 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:18273284C>G uc002nia.1 + 9 1589 c.1077C>G c.(1075-1077)AGC>AGG p.S359R PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA NM_005027 NP_005018 O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 359 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1) 6 ATGCTTCTAGCAAGATCCAGG 0.602000 CLIP3 25999 broad.mit.edu 37 19 36515332 36515332 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:36515332C>T uc010eeq.1 - 6 1166 c.884G>A c.(883-885)CGC>CAC p.R295H uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.R295H NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 295 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTCTCCCAGGCGCAAGCCCAG 0.607000 KCNK6 9424 broad.mit.edu 37 19 38817329 38817329 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:38817329C>T uc002oic.2 + 2 529 c.419C>T c.(418-420)GCC>GTC p.A140V KCNK6_uc002oid.2_Missense_Mutation_p.A6V NM_004823 NP_004814 Q9Y257 KCNK6_HUMAN potassium channel, subfamily K, member 6 140 Helical; (Potential). voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1) 1 all_cancers(60;5.83e-07) Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613) Ibutilide(DB00308)|Quinidine(DB00908) CTGCTGACCGCCTCAGCCCAG 0.667000 SPTBN4 57731 broad.mit.edu 37 19 41077990 41077990 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:41077990G>T uc002ony.2 + 34 7471 c.7385G>T c.(7384-7386)GGC>GTC p.G2462V SPTBN4_uc002onz.2_Missense_Mutation_p.G2462V|SPTBN4_uc010egx.2_Missense_Mutation_p.G1205V NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2462 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GACTCCAAGGGCCCGGCATCC 0.597000 GPR32 2854 broad.mit.edu 37 19 51274341 51274341 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:51274341G>C uc010ycf.1 + 1 484 c.484G>C c.(484-486)GCC>CCC p.A162P NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 162 Helical; Name=4; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GAGCTGGCTGGCCTTTGGGGT 0.597000 ZNF175 7728 broad.mit.edu 37 19 52091638 52091638 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr19:52091638A>G uc002pxb.2 + 5 2432 c.2054A>G c.(2053-2055)AAC>AGC p.N685S uc002pxc.1_5'Flank NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 685 C2H2-type 15. response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) AACAGGTCAAACTTCAATAAA 0.403000 TPO 7173 broad.mit.edu 37 2 1500379 1500379 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:1500379G>T uc002qww.2 + 13 2319 c.2228G>T c.(2227-2229)GGC>GTC p.G743V TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.G686V|TPO_uc002qwr.2_Missense_Mutation_p.G743V|TPO_uc002qwx.2_Missense_Mutation_p.G686V|TPO_uc010yio.1_Missense_Mutation_p.G570V|TPO_uc010yip.1_Missense_Mutation_p.G743V|TPO_uc002qwy.1_Missense_Mutation_p.G83V|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 743 Extracellular (Potential).|Sushi. cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GACAAGTGTGGCTTCCCAGAG 0.552000 APOB 338 broad.mit.edu 37 2 21238012 21238012 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:21238012C>G uc002red.2 - 23 3757 c.3629G>C c.(3628-3630)AGA>ACA p.R1210T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1210 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATCCAGGAGTCTATTAGCATA 0.413000 BIRC6 57448 broad.mit.edu 37 2 32640080 32640080 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:32640080C>A uc010ezu.2 + 10 1855 c.1721C>A c.(1720-1722)ACA>AAA p.T574K NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 574 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGTTTATTAACATATAAATCT 0.383000 EPAS1 2034 broad.mit.edu 37 2 46607710 46607710 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:46607710C>T uc002ruv.2 + 12 2387 c.1899C>T c.(1897-1899)GGC>GGT p.G633G EPAS1_uc002ruw.2_Silent_p.G99G NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 633 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CCATGGGGGGCAGATCCAATA 0.612000 HSPC159 29094 broad.mit.edu 37 2 64685502 64685502 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:64685502G>A uc002scy.3 + 5 812 c.459G>A c.(457-459)ACG>ACA p.T153T NM_014181 NP_054900 Q3ZCW2 LEGL_HUMAN galectin-related protein 153 Galectin. intracellular sugar binding 0 GCATTCAAACGTTATCTGCAA 0.403000 GFPT1 2673 broad.mit.edu 37 2 69569333 69569333 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:69569333C>T uc002sfh.2 - 12 1279 c.1100G>A c.(1099-1101)CGG>CAG p.R367Q NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 385 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 AATCAAACGCCGGCATCTCTG 0.333000 SPR 6697 broad.mit.edu 37 2 73118535 73118535 + Nonsense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:73118535C>T uc002sik.2 + 3 705 c.655C>T c.(655-657)CGA>TGA p.R219* NM_003124 NP_003115 P35270 SPRE_HUMAN sepiapterin reductase 219 nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process cytoplasm aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity ovary(2) 2 CCCAGACATGCGAAAAGGGCT 0.557000 MOGS 7841 broad.mit.edu 37 2 74689430 74689430 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:74689430C>T uc010ffj.2 - 4 1649 c.1486G>A c.(1486-1488)GCC>ACC p.A496T MOGS_uc010ffh.2_Missense_Mutation_p.A221T|MOGS_uc010yrt.1_Missense_Mutation_p.A377T|MOGS_uc010ffi.2_Missense_Mutation_p.A390T NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 496 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GGCACCCGGGCTCGGGCCTCA 0.607000 TEKT4 150483 broad.mit.edu 37 2 95537520 95537520 + Missense_Mutation SNP C C T rs75859449 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:95537520C>T uc002stw.1 + 1 289 c.196C>T c.(196-198)CGG>TGG p.R66W uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 66 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 GGAGCGGCAGCGGCACGAGAG 0.672000 IL1RL2 8808 broad.mit.edu 37 2 102842401 102842401 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:102842401G>A uc002tbs.2 + 9 1161 c.1035G>A c.(1033-1035)TTG>TTA p.L345L IL1RL2_uc002tbt.2_Silent_p.L227L NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 345 Helical; (Potential). cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 TTATCGCCTTGGTGGCTGTGG 0.363000 LRP1B 53353 broad.mit.edu 37 2 141665568 141665568 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:141665568C>T uc002tvj.1 - 22 4370 c.3398G>A c.(3397-3399)AGT>AAT p.S1133N LRP1B_uc010fnl.1_Missense_Mutation_p.S315N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1133 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACAAGAAACTGTCACAGTC 0.453000 TSP Lung(27;0.18) TNS1 7145 broad.mit.edu 37 2 218747129 218747129 + Nonsense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr2:218747129G>A uc002vgt.2 - 15 1275 c.877C>T c.(877-879)CGA>TGA p.R293* TNS1_uc002vgr.2_Nonsense_Mutation_p.R293*|TNS1_uc002vgs.2_Nonsense_Mutation_p.R293*|TNS1_uc010zjv.1_Nonsense_Mutation_p.R293*|TNS1_uc010fvj.1_Nonsense_Mutation_p.R361*|TNS1_uc010fvk.1_Nonsense_Mutation_p.R418*|TNS1_uc002vgu.3_Nonsense_Mutation_p.R324*|TNS1_uc010fvi.1_5'UTR NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 293 C2 tensin-type. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCTGGAAATCGATCATCTGGA 0.323000 AVP 551 broad.mit.edu 37 20 3065247 3065247 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr20:3065247C>T uc002whu.2 - 1 124 c.74G>A c.(73-75)TGC>TAC p.C25Y NM_000490 NP_000481 P01185 NEU2_HUMAN arginine vasopressin-neurophysin II 25 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding 0 COAD - Colon adenocarcinoma(99;0.00643) GCCCCTCGGGCAGTTCTGGAA 0.642000 C20orf4 25980 broad.mit.edu 37 20 34832803 34832803 + Silent SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr20:34832803C>T uc002xfc.1 + 3 1035 c.942C>T c.(940-942)TTC>TTT p.F314F C20orf4_uc002xfd.1_Silent_p.F314F|C20orf4_uc002xfe.1_Silent_p.F314F NM_015511 NP_056326 Q9Y312 CT004_HUMAN hypothetical protein LOC25980 314 0 Breast(12;0.0162) Myeloproliferative disorder(115;0.0393) CTGACTTCTTCGTAGACATTG 0.517000 TPTE 7179 broad.mit.edu 37 21 10907025 10907025 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr21:10907025T>G uc002yip.1 - 24 1904 c.1536A>C c.(1534-1536)AAA>AAC p.K512N TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.K494N|TPTE_uc002yir.1_Missense_Mutation_p.K474N|TPTE_uc010gkv.1_Missense_Mutation_p.K374N NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 512 C2 tensin-type. 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) CCAATTCATTTTTTGGTAGAT 0.363000 ADAMTS1 9510 broad.mit.edu 37 21 28212246 28212246 + Silent SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr21:28212246G>C uc002ymf.2 - 6 2255 c.1800C>G c.(1798-1800)GGC>GGG p.G600G NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 600 TSP type-1 1. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GCACTCGTTTGCCTTCACAGT 0.483000 TMPPE 643853 broad.mit.edu 37 3 33135129 33135129 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:33135129G>A uc003cfk.2 - 2 750 c.559C>T c.(559-561)CCC>TCC p.P187S GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.P50S NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 187 integral to membrane metal ion binding 0 ACAGCCGGGGGCTGCGCGGCA 0.607000 NBEAL2 23218 broad.mit.edu 37 3 47042669 47042669 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:47042669G>C uc003cqp.2 + 28 4663 c.4484G>C c.(4483-4485)AGC>ACC p.S1495T NBEAL2_uc010hjm.1_Missense_Mutation_p.S872T|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1495 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ATCAAGCGCAGGTGAGAGGGA 0.632000 ARIH2 10425 broad.mit.edu 37 3 49006074 49006074 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:49006074A>G uc003cvb.2 + 7 958 c.646A>G c.(646-648)AGG>GGG p.R216G ARIH2_uc003cvc.2_Missense_Mutation_p.R216G|ARIH2_uc003cvf.2_Missense_Mutation_p.R134G|ARIH2_uc010hkl.2_Missense_Mutation_p.R216G NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 216 IBR-type. developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) CTACCTCTTCAGGGACTATGT 0.408000 AMT 275 broad.mit.edu 37 3 49455114 49455114 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:49455114C>A uc003cww.2 - 9 1200 c.1071G>T c.(1069-1071)AAG>AAT p.K357N AMT_uc011bcn.1_3'UTR|AMT_uc003cwx.2_Missense_Mutation_p.K357N|AMT_uc011bco.1_Missense_Mutation_p.K313N|AMT_uc003cwy.2_Missense_Mutation_p.K309N|AMT_uc011bcp.1_Missense_Mutation_p.K260N|AMT_uc011bcq.1_Missense_Mutation_p.K301N NM_000481 NP_000472 P48728 GCST_HUMAN aminomethyltransferase isoform 1 precursor 357 glycine catabolic process mitochondrion aminomethyltransferase activity|transaminase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCACATTCTTCTTCAGAGAGG 0.592000 CACNA1D 776 broad.mit.edu 37 3 53778854 53778854 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:53778854G>A uc003dgv.3 + 23 3169 c.3006G>A c.(3004-3006)AAG>AAA p.K1002K CACNA1D_uc003dgu.3_Silent_p.K1022K|CACNA1D_uc003dgy.3_Silent_p.K1002K|CACNA1D_uc003dgw.3_Silent_p.K669K|CACNA1D_uc003dgx.1_Silent_p.K150K NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1002 Cytoplasmic (Potential).|III. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) AAGGACTTAAGGTTTTGATTC 0.542000 PDZRN3 23024 broad.mit.edu 37 3 73433107 73433107 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:73433107G>A uc003dpl.1 - 10 2706 c.2610C>T c.(2608-2610)CAC>CAT p.H870H PDZRN3_uc011bgh.1_Silent_p.H527H|PDZRN3_uc010hoe.1_Silent_p.H568H|PDZRN3_uc011bgf.1_Silent_p.H587H|PDZRN3_uc011bgg.1_Silent_p.H590H NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 870 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGATGTGCGCGTGCTTGTATG 0.652000 EPHA6 285220 broad.mit.edu 37 3 97356746 97356746 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:97356746G>C uc010how.1 + 14 2647 c.2604G>C c.(2602-2604)CAG>CAC p.Q868H EPHA6_uc011bgp.1_3'UTR|EPHA6_uc003drs.3_Missense_Mutation_p.Q260H|EPHA6_uc003drr.3_Missense_Mutation_p.Q260H|EPHA6_uc003drt.2_Missense_Mutation_p.Q260H|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 773 Protein kinase.|Cytoplasmic (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 CAGTCATCCAGTTGGTCGGAA 0.413000 KIAA2018 205717 broad.mit.edu 37 3 113377235 113377235 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:113377235G>C uc003eam.2 - 7 3705 c.3294C>G c.(3292-3294)TTC>TTG p.F1098L KIAA2018_uc003eal.2_Missense_Mutation_p.F1042L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1098 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 ATGCAACTGAGAAACTACGAC 0.448000 RBP1 5947 broad.mit.edu 37 3 139236484 139236484 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:139236484G>A uc003eti.2 - 4 690 c.579C>T c.(577-579)TTC>TTT p.F193F NM_002899 NP_002890 P09455 RET1_HUMAN retinol binding protein 1, cellular isoform a 131 cytoplasm retinal binding|retinol binding|transporter activity 0 Vitamin A(DB00162) GCACCTTCTTGAATACTTGCT 0.512000 IGSF10 285313 broad.mit.edu 37 3 151162781 151162781 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr3:151162781T>G uc011bod.1 - 4 4988 c.4988A>C c.(4987-4989)AAC>ACC p.N1663T NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1663 Ig-like C2-type 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) GGCATCTGAGTTAGCTGGAAT 0.423000 HGFAC 3083 broad.mit.edu 37 4 3446377 3446377 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:3446377G>A uc003ghc.2 + 7 761 c.758G>A c.(757-759)GGG>GAG p.G253E HGFAC_uc010icw.2_Missense_Mutation_p.G253E NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 253 EGF-like 2. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TGCCTGAACGGGGGCACCTGC 0.721000 PPARGC1A 10891 broad.mit.edu 37 4 23886497 23886497 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:23886497G>C uc003gqs.2 - 2 232 c.112C>G c.(112-114)CTT>GTT p.L38V PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.L38V NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 38 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AGTTCAGAAAGATCAAGTTCA 0.418000 C4orf19 55286 broad.mit.edu 37 4 37592414 37592414 + Missense_Mutation SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:37592414T>G uc003gsw.3 + 4 920 c.737T>G c.(736-738)GTG>GGG p.V246G C4orf19_uc003gsy.3_Missense_Mutation_p.V246G NM_001104629 NP_001098099 Q8IY42 CD019_HUMAN hypothetical protein LOC55286 246 0 AATGAGGATGTGGAAACAGAA 0.507000 C4orf40 401137 broad.mit.edu 37 4 71024501 71024501 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:71024501C>A uc003hfa.3 + 4 605 c.532C>A c.(532-534)CCT>ACT p.P178T C4orf40_uc003hfb.3_Missense_Mutation_p.P178T NM_214711 NP_999876 Q6MZM9 CD040_HUMAN hypothetical protein LOC401137 precursor 178 Ala-rich. extracellular region 0 TGCAGCTGAGCCTGCTGCAGA 0.637000 CDKL2 8999 broad.mit.edu 37 4 76539472 76539472 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:76539472A>C uc003hiq.2 - 3 855 c.330T>G c.(328-330)ATT>ATG p.I110M CDKL2_uc011cbp.1_Missense_Mutation_p.I110M|CDKL2_uc010iix.1_Intron NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 110 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTCCATTAATAATCTGAAACA 0.254000 RASGEF1B 153020 broad.mit.edu 37 4 82369254 82369254 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:82369254G>C uc003hmi.1 - 5 767 c.623C>G c.(622-624)ACG>AGG p.T208R RASGEF1B_uc003hmj.1_Missense_Mutation_p.T207R|RASGEF1B_uc010ijq.1_Missense_Mutation_p.T166R NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 208 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 CTGGGCCAACGTGTAAGGGTC 0.463000 SYNPO2 171024 broad.mit.edu 37 4 119951305 119951305 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:119951305G>T uc003icm.3 + 4 1571 c.1375G>T c.(1375-1377)GTT>TTT p.V459F SYNPO2_uc010ina.2_Missense_Mutation_p.V459F|SYNPO2_uc010inb.2_Missense_Mutation_p.V459F|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.V387F NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 459 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 CAACACACAAGTTGTGAACTT 0.463000 PCDH10 57575 broad.mit.edu 37 4 134072365 134072365 + Missense_Mutation SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:134072365A>C uc003iha.2 + 1 1896 c.1070A>C c.(1069-1071)GAG>GCG p.E357A uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.E357A NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 357 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AACGCGCCAGAGATCAGCTTC 0.612000 DCLK2 166614 broad.mit.edu 37 4 151170753 151170753 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr4:151170753G>C uc003ilm.3 + 15 2090 c.1990G>C c.(1990-1992)GAG>CAG p.E664Q DCLK2_uc003iln.3_Missense_Mutation_p.E663Q|DCLK2_uc003ilo.3_Missense_Mutation_p.E681Q|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 664 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) CATGCAAGCTGAGGTGACAGG 0.458000 TRIO 7204 broad.mit.edu 37 5 14485253 14485253 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:14485253G>A uc003jff.2 + 47 6739 c.6733G>A c.(6733-6735)GTG>ATG p.V2245M TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.V1894M NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2245 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GACGGGTGACGTGGTAGAGAC 0.373000 PRDM9 56979 broad.mit.edu 37 5 23521174 23521174 + Nonsense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:23521174G>T uc003jgo.2 + 6 576 c.394G>T c.(394-396)GAA>TAA p.E132* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 132 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TAGTTTGAAAGAATTGTCAAG 0.423000 HNSCC(3;0.000094) OSMR 9180 broad.mit.edu 37 5 38925432 38925432 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:38925432C>T uc003jln.1 + 15 2538 c.2171C>T c.(2170-2172)CCC>CTC p.P724L OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 724 Fibronectin type-III 4.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) GGTGAAGGCCCCAGTGCTACG 0.443000 NNT 23530 broad.mit.edu 37 5 43653307 43653307 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:43653307G>A uc003joe.2 + 14 2306 c.2051G>A c.(2050-2052)GGT>GAT p.G684D NNT_uc003jof.2_Missense_Mutation_p.G684D NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 684 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) GCTTTGGGTGGTACCATTGGT 0.458000 SLCO4C1 353189 broad.mit.edu 37 5 101631703 101631703 + Nonsense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:101631703G>C uc003knm.2 - 1 551 c.264C>G c.(262-264)TAC>TAG p.Y88* NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 88 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TCCTCCAGCCGTAAGACCCCT 0.572000 APC 324 broad.mit.edu 37 5 112177901 112177901 + Nonsense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:112177901C>T uc010jby.2 + 16 6990 c.6610C>T c.(6610-6612)CGA>TGA p.R2204* APC_uc011cvt.1_Nonsense_Mutation_p.R2186*|APC_uc003kpz.3_Nonsense_Mutation_p.R2204*|APC_uc003kpy.3_Nonsense_Mutation_p.R2204*|APC_uc010jbz.2_Nonsense_Mutation_p.R1921*|APC_uc010jca.2_Nonsense_Mutation_p.R1504* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2204 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGGAAAAGTTCGATCTAATTC 0.363000 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) PCDHA8 56140 broad.mit.edu 37 5 140222761 140222761 + Missense_Mutation SNP C C A rs145175505 TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:140222761C>A uc003lhs.2 + 1 1855 c.1855C>A c.(1855-1857)CGC>AGC p.R619S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R619S NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 619 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGCAGCCCTCGCATCCCGTT 0.672000 PCDHGB3 56102 broad.mit.edu 37 5 140751796 140751796 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:140751796G>A uc003ljw.1 + 1 1835 c.1835G>A c.(1834-1836)AGC>AAC p.S612N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.S612N|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 612 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCAGGCCAGCGAGCCCGGG 0.697000 PCDHGC5 56097 broad.mit.edu 37 5 140870921 140870921 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:140870921C>G uc003lla.1 + 1 2114 c.2114C>G c.(2113-2115)TCC>TGC p.S705C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.S705C NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 705 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCTCTTATCCCTAGTCACC 0.572000 FAT2 2196 broad.mit.edu 37 5 150914081 150914081 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:150914081C>G uc003lue.3 - 12 9329 c.9316G>C c.(9316-9318)GTG>CTG p.V3106L GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'Flank NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3106 Extracellular (Potential).|Cadherin 27. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGTCATTCACATCCTCCACA 0.572000 NSD1 64324 broad.mit.edu 37 5 176637132 176637132 + Missense_Mutation SNP G G T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr5:176637132G>T uc003mfr.3 + 5 1870 c.1732G>T c.(1732-1734)GCA>TCA p.A578S NSD1_uc003mft.3_Missense_Mutation_p.A309S|NSD1_uc003mfs.1_Missense_Mutation_p.A475S|NSD1_uc011dfx.1_Missense_Mutation_p.A226S NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 578 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAAAAACACTGCAAAGAAAGA 0.443000 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) FAM50B 26240 broad.mit.edu 37 6 3850733 3850733 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:3850733G>A uc003mvu.2 + 2 800 c.688G>A c.(688-690)GCC>ACC p.A230T NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 230 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) GCTGCGCTCCGCCGGCGTGGA 0.652000 HIVEP1 3096 broad.mit.edu 37 6 12120526 12120526 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:12120526T>C uc003nac.2 + 4 677 c.498T>C c.(496-498)AGT>AGC p.S166S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 166 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTGACTCAAGTTCCTTGTCAA 0.473000 NUP153 9972 broad.mit.edu 37 6 17629536 17629536 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:17629536G>C uc003ncd.1 - 18 3094 c.2894C>G c.(2893-2895)TCT>TGT p.S965C NUP153_uc011dje.1_Missense_Mutation_p.S996C|NUP153_uc010jpl.1_Missense_Mutation_p.S923C NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 965 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CTTAGATTCAGATGAAACTCC 0.328000 HIST1H3D 8351 broad.mit.edu 37 6 26197279 26197279 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:26197279G>C uc003ngv.2 - 2 597 c.200C>G c.(199-201)CCA>CGA p.P67R HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 67 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) ACGCTGGAATGGCAGTTTGCG 0.637000 OR2J2 26707 broad.mit.edu 37 6 29141962 29141962 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:29141962G>A uc011dlm.1 + 1 652 c.550G>A c.(550-552)GCA>ACA p.A184T NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGAAGTTCCAGCACTTCTGCG 0.443000 PHF3 23469 broad.mit.edu 37 6 64422326 64422326 + Silent SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:64422326T>C uc003pep.1 + 15 4868 c.4842T>C c.(4840-4842)TCT>TCC p.S1614S PHF3_uc003pen.2_Silent_p.S1526S|PHF3_uc011dxs.1_Silent_p.S883S NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1614 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CAAATAGTTCTCCATGCAGAT 0.373000 HTR1E 3354 broad.mit.edu 37 6 87725916 87725916 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:87725916G>A uc003pli.2 + 2 1567 c.864G>A c.(862-864)AAG>AAA p.K288K NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 288 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GGGAACGGAAGGCAGCACGCA 0.502000 UTRN 7402 broad.mit.edu 37 6 144858786 144858786 + Missense_Mutation SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:144858786C>A uc003qkt.2 + 43 6394 c.6302C>A c.(6301-6303)ACA>AAA p.T2101K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 2101 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) TGTTGGTTAACAAAGGCTGAG 0.353000 FBXO30 84085 broad.mit.edu 37 6 146126159 146126159 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:146126159A>G uc003qla.2 - 2 1582 c.1383T>C c.(1381-1383)TTT>TTC p.F461F uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 461 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) ATGGAAGTGAAAAAGTCTGAG 0.438000 SYNE1 23345 broad.mit.edu 37 6 152658021 152658021 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:152658021A>G uc010kiw.2 - 76 13085 c.12483T>C c.(12481-12483)TCT>TCC p.S4161S SYNE1_uc003qot.3_Silent_p.S4090S|SYNE1_uc003qou.3_Silent_p.S4161S|SYNE1_uc010kja.1_Silent_p.S866S|SYNE1_uc010kiz.2_5'Flank NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4161 Spectrin 11.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCTCCAGCTCAGAGTGCCTCC 0.473000 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152671388 152671388 + Missense_Mutation SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:152671388A>G uc010kiw.2 - 72 12418 c.11816T>C c.(11815-11817)CTG>CCG p.L3939P SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.L3939P|SYNE1_uc010kja.1_Missense_Mutation_p.L644P NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3939 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGACATCTGCAGCAGCCACTT 0.542000 HNSCC(10;0.0054) BZW2 28969 broad.mit.edu 37 7 16745690 16745690 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:16745690G>A uc003stl.2 + 12 1415 c.1237G>A c.(1237-1239)GAA>AAA p.E413K BZW2_uc003stm.2_Missense_Mutation_p.E219K|BZW2_uc003stj.2_Missense_Mutation_p.E413K|BZW2_uc003stk.2_Missense_Mutation_p.E337K|BZW2_uc003stp.2_Missense_Mutation_p.E261K|BZW2_uc010kua.2_Missense_Mutation_p.E372K NM_001159767 NP_001153239 Q9Y6E2 BZW2_HUMAN basic leucine zipper and W2 domains 2 413 W2. cell differentiation|nervous system development|RNA metabolic process protein binding ovary(2) 2 Lung NSC(10;0.0367)|all_lung(11;0.0837) UCEC - Uterine corpus endometrioid carcinoma (126;0.199) CCTAGAATCCGAATCGGAAGG 0.418000 ABCA13 154664 broad.mit.edu 37 7 48559652 48559652 + Missense_Mutation SNP T T C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:48559652T>C uc003toq.2 + 53 13838 c.13813T>C c.(13813-13815)TAT>CAT p.Y4605H ABCA13_uc010kys.1_Missense_Mutation_p.Y1680H|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.Y335H NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4605 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACAGAATATCTATGATGTCCT 0.333000 MUC17 140453 broad.mit.edu 37 7 100685356 100685356 + Silent SNP A A G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:100685356A>G uc003uxp.1 + 3 10712 c.10659A>G c.(10657-10659)CAA>CAG p.Q3553Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3553 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTTCTAGTCAAGCCAGTTCAT 0.478000 LRRN3 54674 broad.mit.edu 37 7 110764339 110764339 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:110764339C>T uc003vft.3 + 4 2557 c.1511C>T c.(1510-1512)GCT>GTT p.A504V IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.A504V|LRRN3_uc003vfs.3_Missense_Mutation_p.A504V NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 504 Extracellular (Potential).|Ig-like C2-type. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CTAGTTGGCGCTGACTTGAAG 0.373000 LRGUK 136332 broad.mit.edu 37 7 133876492 133876492 + Missense_Mutation SNP A A T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:133876492A>T uc003vrm.1 + 12 1436 c.1420A>T c.(1420-1422)ATG>TTG p.M474L NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 474 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 TTTTGATGAAATGGTGAACAT 0.343000 CLCN1 1180 broad.mit.edu 37 7 143048760 143048760 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr7:143048760C>T uc003wcr.1 + 23 2756 c.2669C>T c.(2668-2670)ACG>ATG p.T890M CLCN1_uc011ktc.1_Missense_Mutation_p.T502M NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 890 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTCCGGAACACGACTTCAACT 0.562000 FAM160B2 64760 broad.mit.edu 37 8 21959240 21959240 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:21959240G>A uc011kyx.1 + 14 1780 c.1729G>A c.(1729-1731)GTC>ATC p.V577I FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 577 0 CAGCTCCCGCGTCGCCTCCTG 0.662000 HOOK3 84376 broad.mit.edu 37 8 42868523 42868523 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:42868523G>C uc003xpr.2 + 21 2238 c.1996G>C c.(1996-1998)GTT>CTT p.V666L NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 666 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GAAATATATTGTTAGTGCCTG 0.264000 T RET papillary thyroid MRPL15 29088 broad.mit.edu 37 8 55055268 55055268 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:55055268G>C uc003xsa.2 + 4 538 c.475G>C c.(475-477)GCT>CCT p.A159P NM_014175 NP_054894 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 precursor 159 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) AGTACAGTTGGCTTCAGAACT 0.383000 LYN 4067 broad.mit.edu 37 8 56910959 56910959 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:56910959C>G uc003xsk.3 + 11 1387 c.1105C>G c.(1105-1107)CGA>GGA p.R369G LYN_uc003xsl.3_Missense_Mutation_p.R348G NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 369 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CCGGGACCTGCGAGCAGCTAA 0.458000 IMPAD1 54928 broad.mit.edu 37 8 57878831 57878831 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:57878831G>A uc003xte.3 - 4 1010 c.727C>T c.(727-729)CGT>TGT p.R243C NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 243 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GAATGGGAACGAGACACAACG 0.463000 CSMD3 114788 broad.mit.edu 37 8 113256710 113256710 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:113256710G>C uc003ynu.2 - 65 10474 c.10315C>G c.(10315-10317)CAG>GAG p.Q3439E CSMD3_uc003yns.2_Missense_Mutation_p.Q2641E|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3399E|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3270E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3439 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAGCCAGGCTGACAGGTATAA 0.443000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ADCY8 114 broad.mit.edu 37 8 131795942 131795942 + Missense_Mutation SNP C C T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:131795942C>T uc003ytd.3 - 17 3519 c.3263G>A c.(3262-3264)CGG>CAG p.R1088Q ADCY8_uc010mds.2_Missense_Mutation_p.R957Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1088 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CTCACCAATCCGGAGTTCAAA 0.512000 HNSCC(32;0.087) BAI1 575 broad.mit.edu 37 8 143570781 143570781 + Missense_Mutation SNP G G C rs146388200 by1000genomes TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr8:143570781G>C uc003ywm.2 + 15 2796 c.2613G>C c.(2611-2613)GAG>GAC p.E871D NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 871 Extracellular (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGAGATCGAGTTTGCCCACA 0.572000 KIAA2026 158358 broad.mit.edu 37 9 5968974 5968974 + Silent SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr9:5968974G>A uc003zjq.3 - 3 1473 c.1257C>T c.(1255-1257)CAC>CAT p.H419H NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 419 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AAGGTAGTTCGTGAAAAGGTT 0.373000 PTPRD 5789 broad.mit.edu 37 9 8317903 8317903 + Missense_Mutation SNP G G C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr9:8317903G>C uc003zkk.2 - 45 6421 c.5710C>G c.(5710-5712)CTG>GTG p.L1904V PTPRD_uc003zkp.2_Missense_Mutation_p.L1498V|PTPRD_uc003zkq.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkr.2_Missense_Mutation_p.L1488V|PTPRD_uc003zks.2_Missense_Mutation_p.L1497V|PTPRD_uc003zkl.2_Missense_Mutation_p.L1895V|PTPRD_uc003zkm.2_Missense_Mutation_p.L1891V|PTPRD_uc003zkn.2_Missense_Mutation_p.L1493V|PTPRD_uc003zko.2_Missense_Mutation_p.L1494V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1904 Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGCTGCCCAGGTACTCTAGT 0.448000 TSP Lung(15;0.13) C9orf100 84904 broad.mit.edu 37 9 35662219 35662219 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr9:35662219C>G uc003zxm.1 - 8 1061 c.949G>C c.(949-951)GAG>CAG p.E317Q C9orf100_uc003zxl.2_RNA NM_032818 NP_116207 Q8N4T4 CI100_HUMAN hypothetical protein LOC84904 317 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GACAGCTCCTCCTGGTCTGTG 0.532000 SHC3 53358 broad.mit.edu 37 9 91686168 91686168 + Splice_Site SNP C C A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr9:91686168C>A uc004aqg.2 - 5 1037 c.730_splice c.e5-1 p.I244_splice NM_016848 NP_058544 Q92529 SHC3_HUMAN src homology 2 domain-containing transforming central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity lung(3)|skin(1) 4 TCGCTATGATCTGCCAGGCCC 0.483000 METTL11A 28989 broad.mit.edu 37 9 132397491 132397491 + Missense_Mutation SNP C C G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr9:132397491C>G uc004byd.1 + 4 614 c.420C>G c.(418-420)CAC>CAG p.H140Q METTL11A_uc010myw.1_RNA|METTL11A_uc011mbs.1_Missense_Mutation_p.T112S|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.1_3'UTR|ASB6_uc004byg.1_3'UTR|ASB6_uc011mbt.1_3'UTR|ASB6_uc010myx.1_3'UTR NM_014064 NP_054783 Q9BV86 NTM1A_HUMAN methyltransferase like 11A 140 chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization nucleus protein binding|protein methyltransferase activity 0 CCCCAGGCCACCTCACCGATC 0.597000 USP51 158880 broad.mit.edu 37 X 55515195 55515195 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:55515195G>A uc004dun.1 - 2 257 c.178C>T c.(178-180)CCA>TCA p.P60S USP51_uc011moo.1_Missense_Mutation_p.P5S NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 60 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TCTTGTAATGGCTCCAGCTTC 0.637000 POF1B 79983 broad.mit.edu 37 X 84586035 84586035 + Silent SNP T T G TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:84586035T>G uc004eer.2 - 7 920 c.774A>C c.(772-774)GGA>GGC p.G258G POF1B_uc004ees.2_Silent_p.G258G NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 258 actin binding 0 CAAGCAACTCTCCAAAATATC 0.358000 FRMD7 90167 broad.mit.edu 37 X 131212239 131212239 + Silent SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:131212239A>C uc004ewn.2 - 12 1984 c.1806T>G c.(1804-1806)CCT>CCG p.P602P FRMD7_uc011muy.1_Silent_p.P587P NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 602 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) CTGACCCAAAAGGAAAACGAA 0.433000 USP26 83844 broad.mit.edu 37 X 132161820 132161820 + Silent SNP A A C TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:132161820A>C uc010nrm.1 - 6 899 c.429T>G c.(427-429)TCT>TCG p.S143S USP26_uc011mvf.1_Silent_p.S143S NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 143 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) CTATCTCAAAAGATTTGCTAC 0.408000 FLNA 2316 broad.mit.edu 37 X 153594681 153594681 + Missense_Mutation SNP G G A TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:153594681G>A uc004fkk.2 - 8 1472 c.1223C>T c.(1222-1224)ACG>ATG p.T408M FLNA_uc010nuu.1_Missense_Mutation_p.T408M NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 408 Filamin 2. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCACCTGCCGTAAAGATCTC 0.637000 KIAA1009 22832 broad.mit.edu 37 6 84862600 84862601 + Frame_Shift_Ins INS - - T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr6:84862599_84862600C>CT uc010kbp.3 - 22 3390_3391 c.3293_3294G>AG c.(3292-3294)aagfs p.K1098fs KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.K1022fs|KIAA1009_uc003pki.4_Frame_Shift_Ins_p.K484fs NM_014895 NP_055710 Q5TB80 QN1_HUMAN Homo sapiens KIAA1009 (KIAA1009), mRNA. 1098 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) GTATTTCTCTCTTTTTTGCAGC 0.386 LSM12 124801 broad.mit.edu 37 17 42114858 42114859 + Frame_Shift_Ins INS - - T TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chr17:42114857_42114858C>CT uc002iev.3 - 4 740_741 c.417_418G>AG c.(415-420)gaagttfs p.E139fs LSM12_uc010wit.2_Intron|LSM12_uc002iew.1_Non-coding_Transcript NM_152344 NP_689557 Q3MHD2 LSM12_HUMAN Homo sapiens LSM12 homolog (S. cerevisiae) (LSM12), mRNA. 139 protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 6 Breast(137;0.0313)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.115) GTAATAACAACTTCTTCCATGA 0.436 RBM10 8241 broad.mit.edu 37 X 47030571 47030585 + In_Frame_Del DEL GAGGAGGAGGAGGAT GAGGAGGAGGAGGAT - TCGA-BR-6565-01A-11D-1800-08 TCGA-BR-6565-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f702b28-c460-4265-9d93-83a18b65255f 0ce7327b-a7c7-4d7d-aac6-5d93385d2301 g.chrX:47030570_47030584GGAGGAGGAGGAGGAT>G uc004dhi.3 + 3 769_783 c.540_554GGAGGAGGAGGAGGAT>G c.(538-555)gaggaggaggaggaggat>gaGt p.EEEED181del RBM10_uc004dhe.2_In_Frame_Del_p.EEEED106del|RBM10_uc004dhf.3_In_Frame_Del_p.EEEED116del|RBM10_uc004dhh.3_In_Frame_Del_p.EEEED116del|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron NM_001204468 NP_001191397 P98175 RBM10_HUMAN Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA. 116 RRM 1. RNA splicing|mRNA processing chromatin remodeling complex RNA binding|nucleotide binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 Gggaggaggaggaggaggaggaggatgaggaggag 0.679