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 KIAA1751 85452 broad.mit.edu 37 1 1896465 1896465 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:1896465G>A uc001aim.1 - 13 1593 c.1437C>T c.(1435-1437)GGC>GGT p.G479G KIAA1751_uc009vkz.1_Silent_p.G479G NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 479 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TCTTTGTCCCGCCCACGGGCT 0.677000 GPR153 387509 broad.mit.edu 37 1 6311551 6311551 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:6311551G>A uc001amp.1 - 4 1086 c.826C>T c.(826-828)CCC>TCC p.P276S GPR153_uc001amo.1_5'Flank NM_207370 NP_997253 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 276 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 Ovarian(185;0.0634) all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246) GCCATCCAGGGCGCTGAGGCG 0.697000 MIIP 60672 broad.mit.edu 37 1 12081808 12081808 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:12081808C>G uc001ato.1 + 2 205 c.25C>G c.(25-27)CAG>GAG p.Q9E NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN invasion inhibitory protein 45 9 ovary(1) 1 GGAACTGGCACAGCTGCGGCT 0.682000 VAV3 10451 broad.mit.edu 37 1 108307785 108307785 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:108307785G>A uc001dvk.1 - 9 888 c.834C>T c.(832-834)TAC>TAT p.Y278Y VAV3_uc010ouw.1_Silent_p.Y278Y|VAV3_uc001dvl.1_Silent_p.Y102Y|VAV3_uc010oux.1_Silent_p.Y278Y NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 278 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AGTACTGCCCGTAAATAACCA 0.373000 KCNA3 3738 broad.mit.edu 37 1 111215835 111215835 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:111215835C>T uc001dzv.1 - 1 1821 c.1597G>A c.(1597-1599)GAA>AAA p.E533K NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 533 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCCCTCTTCGATCACCATA 0.527000 LINGO4 339398 broad.mit.edu 37 1 151774430 151774430 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:151774430C>T uc001ezf.1 - 2 941 c.751G>A c.(751-753)GGG>AGG p.G251R NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 251 Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGATTGAGCCCAACCAGGCTC 0.642000 TCHH 7062 broad.mit.edu 37 1 152080772 152080772 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:152080772G>A uc001ezp.2 - 2 4921 c.4921C>T c.(4921-4923)CGT>TGT p.R1641C TCHH_uc009wne.1_Missense_Mutation_p.R1641C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1641 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGTCACGCTCTTGGCGG 0.592000 HRNR 388697 broad.mit.edu 37 1 152185612 152185612 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:152185612A>G uc001ezt.1 - 3 8569 c.8493T>C c.(8491-8493)TTT>TTC p.F2831F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2831 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGCTACTAGGAAAACTGAGAA 0.388000 HRNR 388697 broad.mit.edu 37 1 152193511 152193511 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:152193511C>G uc001ezt.1 - 3 670 c.594G>C c.(592-594)GGG>GGC p.G198G NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 198 2. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGCCCTGACCCAGACCCAC 0.557000 NUP210L 91181 broad.mit.edu 37 1 154033097 154033097 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:154033097T>G uc001fdw.2 - 20 2841 c.2769A>C c.(2767-2769)GAA>GAC p.E923D NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.E923D NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 923 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) AACCAGATCCTTCCACAAGGC 0.383000 OR10X1 128367 broad.mit.edu 37 1 158549454 158549454 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:158549454A>C uc010pin.1 - 1 236 c.236T>G c.(235-237)CTT>CGT p.L79R NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GAGTGCACTAAGGAAGAGATA 0.498000 ILDR2 387597 broad.mit.edu 37 1 166927077 166927077 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:166927077A>G uc001gdx.1 - 2 364 c.308T>C c.(307-309)GTA>GCA p.V103A NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 103 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(1) 1 TTTTGAAGCTACTACTCGAAC 0.498000 SELP 6403 broad.mit.edu 37 1 169572294 169572294 + Missense_Mutation SNP G G A rs144811959 byFrequency TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:169572294G>A uc001ggi.3 - 10 1740 c.1675C>T c.(1675-1677)CGC>TGC p.R559C SELP_uc001ggh.2_Missense_Mutation_p.R394C|SELP_uc009wvr.2_Missense_Mutation_p.R559C NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 559 Extracellular (Potential).|Sushi 6. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCTGTCCAGCGTCCCGATCGA 0.448000 RASAL2 9462 broad.mit.edu 37 1 178414760 178414760 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:178414760C>T uc001glr.2 + 7 1271 c.1146C>T c.(1144-1146)CTC>CTT p.L382L RASAL2_uc001glq.2_Silent_p.L530L NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 382 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 AGGAATACCTCAAGTTGGTGG 0.403000 F13B 2165 broad.mit.edu 37 1 197026201 197026201 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:197026201A>T uc001gtt.1 - 7 1157 c.1113T>A c.(1111-1113)CAT>CAA p.H371Q NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 371 Sushi 6. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CATTCGATCCATGGAGAAGGT 0.388000 MDM4 4194 broad.mit.edu 37 1 204511962 204511962 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:204511962C>T uc001hba.2 + 8 724 c.562C>T c.(562-564)CTT>TTT p.L188F MDM4_uc001hbd.1_RNA|MDM4_uc010pqw.1_RNA|MDM4_uc010pqx.1_Missense_Mutation_p.L61F|MDM4_uc001hay.1_Missense_Mutation_p.L188F|MDM4_uc001hbb.2_Missense_Mutation_p.L61F|MDM4_uc010pqy.1_Intron|MDM4_uc001hbc.2_RNA|MDM4_uc009xbe.1_RNA NM_002393 NP_002384 O15151 MDM4_HUMAN mouse double minute 4 homolog 188 apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TAGGCTGGACCTTGGATTTGA 0.378000 A GBM|bladder|retinoblastoma IL20 50604 broad.mit.edu 37 1 207039928 207039928 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr1:207039928A>T uc001her.2 + 3 369 c.325A>T c.(325-327)ATC>TTC p.I109F IL20_uc010pry.1_Missense_Mutation_p.I180F|IL20_uc009xby.2_Missense_Mutation_p.I109F NM_018724 NP_061194 Q9NYY1 IL20_HUMAN interleukin 20 precursor 109 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding 0 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) TCTCCGGAAGATCAGCAGCCT 0.517000 CYP2C9 1559 broad.mit.edu 37 10 96707655 96707655 + Silent SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr10:96707655T>C uc001kka.3 + 4 626 c.601T>C c.(601-603)TTG>CTG p.L201L CYP2C9_uc009xut.2_Silent_p.L201L NM_000771 NP_000762 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, 201 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(4)|ovary(2) 6 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AATGGAAAAGTTGAATGAAAA 0.368000 ADRB1 153 broad.mit.edu 37 10 115804689 115804689 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr10:115804689C>T uc001lba.2 + 1 884 c.798C>T c.(796-798)CTC>CTT p.L266L NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 266 Cytoplasmic (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GCCGTTTCCTCGGCGGCCCAG 0.398000 PNLIPRP3 119548 broad.mit.edu 37 10 118215240 118215240 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr10:118215240T>A uc001lcl.3 + 5 564 c.463T>A c.(463-465)TTT>ATT p.F155I NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 155 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TCAGAAAAAATTTGAATATTC 0.373000 C11orf41 25758 broad.mit.edu 37 11 33589770 33589770 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:33589770G>A uc001mup.3 + 8 3478 c.3354G>A c.(3352-3354)GTG>GTA p.V1118V C11orf41_uc001mun.1_Silent_p.V1118V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1112 integral to membrane ovary(2) 2 GCTACACTGTGCAGGTAGGTG 0.562000 OR5T3 390154 broad.mit.edu 37 11 56019933 56019933 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:56019933C>A uc010rjd.1 + 1 258 c.258C>A c.(256-258)CAC>CAA p.H86Q NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 86 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) CCTGGCTCCACAACCCCATGT 0.363000 INCENP 3619 broad.mit.edu 37 11 61898025 61898025 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:61898025G>C uc001nsw.1 + 4 1228 c.1026G>C c.(1024-1026)AAG>AAC p.K342N INCENP_uc009ynv.2_Missense_Mutation_p.K342N|INCENP_uc009ynw.1_Missense_Mutation_p.K342N|INCENP_uc001nsx.1_Missense_Mutation_p.K342N NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 342 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 TTGCCAAGAAGACTGCCGAAG 0.607000 SLC3A2 6520 broad.mit.edu 37 11 62648671 62648671 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:62648671A>C uc001nwd.2 + 4 703 c.479A>C c.(478-480)AAG>ACG p.K160T SLC3A2_uc001nwb.2_Missense_Mutation_p.K191T|SLC3A2_uc001nwc.2_Missense_Mutation_p.K161T|SLC3A2_uc001nwe.2_Missense_Mutation_p.K129T|SLC3A2_uc001nwf.2_Missense_Mutation_p.K98T|SLC3A2_uc001nwg.2_Missense_Mutation_p.K59T|SLC3A2_uc010rml.1_5'Flank NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 160 Cytoplasmic (Potential). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 GCCGCGGCTAAGTTCACGGGC 0.687000 OREG0021031 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RBM4 5936 broad.mit.edu 37 11 66410965 66410965 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:66410965G>A uc009yrj.2 + 3 945 c.457G>A c.(457-459)GCG>ACG p.A153T RBM4_uc009yrk.2_Missense_Mutation_p.A128T|RBM4_uc001oiw.1_Missense_Mutation_p.A153T|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.A153T|RBM4_uc001oiz.1_Missense_Mutation_p.A153T NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 153 circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) GCTTAGGACTGCGCCCGGGAT 0.582000 IGHMBP2 3508 broad.mit.edu 37 11 68703977 68703977 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:68703977A>G uc001ook.1 + 13 2131 c.2029A>G c.(2029-2031)AGC>GGC p.S677G IGHMBP2_uc001ool.1_Missense_Mutation_p.S301G|IGHMBP2_uc001oom.1_Missense_Mutation_p.S255G NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 677 SS DNA-binding (By similarity). cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGGACCGGAAGCCAGCGGCA 0.627000 FAT3 120114 broad.mit.edu 37 11 92534124 92534124 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:92534124G>A uc001pdj.3 + 9 7962 c.7945G>A c.(7945-7947)GAC>AAC p.D2649N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2649 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TTCAGTGGCCGACCTCCTGGA 0.458000 TCGA Ovarian(4;0.039) ATM 472 broad.mit.edu 37 11 108163407 108163407 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:108163407C>T uc001pkb.1 + 30 4883 c.4498C>T c.(4498-4500)CAG>TAG p.Q1500* ATM_uc009yxr.1_Nonsense_Mutation_p.Q1500*|ATM_uc001pke.1_Nonsense_Mutation_p.Q152*|ATM_uc001pkf.2_Intron NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1500 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTATTAAGTCAGGTTTGCCA 0.403000 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) SLC37A2 219855 broad.mit.edu 37 11 124949017 124949017 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:124949017T>G uc001qbn.2 + 5 575 c.324T>G c.(322-324)TTT>TTG p.F108L SLC37A2_uc010sau.1_Missense_Mutation_p.F108L NM_001145290 NP_001138762 Q8TED4 SPX2_HUMAN solute carrier family 37 (glycerol-3-phosphate 108 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(2) 2 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) GTGGGGTTTTTGGGGAGCGGC 0.438000 NCAPD2 9918 broad.mit.edu 37 12 6623969 6623969 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:6623969G>A uc001qoo.2 + 9 916 c.870G>A c.(868-870)CTG>CTA p.L290L NCAPD2_uc009zen.1_Silent_p.L162L|NCAPD2_uc010sfd.1_Silent_p.L245L NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 290 Interactions with SMC2 and SMC4. cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 CCCAAGAGCTGAGTCGAGACC 0.473000 SOX5 6660 broad.mit.edu 37 12 23757383 23757383 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:23757383C>A uc001rfw.2 - 9 1204 c.1102G>T c.(1102-1104)GCT>TCT p.A368S SOX5_uc001rfx.2_Missense_Mutation_p.A355S|SOX5_uc001rfy.2_Missense_Mutation_p.A355S|SOX5_uc010siv.1_Missense_Mutation_p.A355S|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.A320S NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 368 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 GGAGATACAGCAGCACCAAGG 0.507000 NELL2 4753 broad.mit.edu 37 12 44926420 44926420 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:44926420C>A uc001rog.2 - 16 2343 c.1748G>T c.(1747-1749)TGC>TTC p.C583F NELL2_uc001rof.3_Missense_Mutation_p.C582F|NELL2_uc001roh.2_Missense_Mutation_p.C583F|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Missense_Mutation_p.C633F|NELL2_uc010sla.1_Missense_Mutation_p.C606F|NELL2_uc001roi.1_Missense_Mutation_p.C583F|NELL2_uc010slb.1_Missense_Mutation_p.C582F NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 583 EGF-like 5; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GCCATCTCTGCACTCACAGTG 0.428000 ARID2 196528 broad.mit.edu 37 12 46244555 46244555 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:46244555C>G uc001ros.1 + 15 2649 c.2649C>G c.(2647-2649)GTC>GTG p.V883V ARID2_uc001ror.2_Silent_p.V883V|ARID2_uc009zkg.1_Silent_p.V339V|ARID2_uc009zkh.1_Silent_p.V510V|ARID2_uc001rou.1_Silent_p.V217V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 883 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTGCTGGTGTCCCAAGTCCAC 0.448000 KRT73 319101 broad.mit.edu 37 12 53004496 53004496 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:53004496G>A uc001sas.2 - 7 1269 c.1234C>T c.(1234-1236)CGG>TGG p.R412W NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 412 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCAGCATCCGTGCCAGCTCC 0.647000 ERBB3 2065 broad.mit.edu 37 12 56489534 56489534 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:56489534C>A uc001sjh.2 + 17 2192 c.1999C>A c.(1999-2001)CGT>AGT p.R667S ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R24S|ERBB3_uc010sqc.1_Missense_Mutation_p.R608S|ERBB3_uc009zok.2_Missense_Mutation_p.R109S|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 667 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCTCTACTGGCGTGGGCGCCG 0.438000 GLT8D2 83468 broad.mit.edu 37 12 104393227 104393227 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:104393227A>G uc001tkh.1 - 6 756 c.350T>C c.(349-351)GTC>GCC p.V117A GLT8D2_uc001tki.1_Missense_Mutation_p.V117A NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 117 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 CCCTTTGAGGACCATCGGGTT 0.443000 POP5 51367 broad.mit.edu 37 12 121018991 121018991 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:121018991G>A uc001tys.2 - 2 122 c.90C>T c.(88-90)AGC>AGT p.S30S POP5_uc001tyt.2_Silent_p.S30S NM_015918 NP_057002 Q969H6 POP5_HUMAN processing of precursor 5 isoform a 30 tRNA processing protein binding|ribonuclease P activity 0 all_neural(191;0.077)|Medulloblastoma(191;0.0922) GTACGAGGCTGCTCAGAACTC 0.662000 TMEM132D 121256 broad.mit.edu 37 12 129566418 129566418 + Silent SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:129566418T>C uc009zyl.1 - 7 2137 c.1809A>G c.(1807-1809)CAA>CAG p.Q603Q TMEM132D_uc001uia.2_Silent_p.Q141Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 603 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGATGTCCACTTGCCAGTCTG 0.632000 POLE 5426 broad.mit.edu 37 12 133233758 133233758 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:133233758C>T uc001uks.1 - 29 3590 c.3546G>A c.(3544-3546)AAG>AAA p.K1182K POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.K1155K NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1182 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCTCACTGATCTTCTTCTGCT 0.567000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage FLT1 2321 broad.mit.edu 37 13 29001983 29001983 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr13:29001983G>A uc001usb.3 - 9 1467 c.1182C>T c.(1180-1182)GAC>GAT p.D394D FLT1_uc010aar.1_Silent_p.D394D|FLT1_uc001usc.3_Silent_p.D394D|FLT1_uc010tdp.1_Silent_p.D394D NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 394 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTTCAGTTACGTCCTTGATAA 0.388000 SLC46A3 283537 broad.mit.edu 37 13 29292018 29292018 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr13:29292018T>A uc001usi.2 - 1 1088 c.118A>T c.(118-120)ACT>TCT p.T40S SLC46A3_uc001usg.2_5'Flank|SLC46A3_uc001usj.2_Missense_Mutation_p.T40S|SLC46A3_uc001ush.2_Missense_Mutation_p.T40S|SLC46A3_uc001usk.2_5'Flank NM_181785 NP_861450 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 isoform a 40 Extracellular (Potential). transmembrane transport integral to membrane central_nervous_system(1)|skin(1) 2 Lung SC(185;0.0367) all cancers(112;0.159) GATGAAAAAGTGTAGTTGCCA 0.368000 DGKH 160851 broad.mit.edu 37 13 42740687 42740687 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr13:42740687C>T uc001uyl.1 + 9 1016 c.995C>T c.(994-996)CCT>CTT p.P332L DGKH_uc010tfh.1_Missense_Mutation_p.P332L|DGKH_uc001uym.1_Missense_Mutation_p.P332L|DGKH_uc010tfi.1_Missense_Mutation_p.P87L|DGKH_uc010tfj.1_Missense_Mutation_p.P187L|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.P187L|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 332 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TGTGTTAGTCCTCTATTGGTT 0.358000 KPNA3 3839 broad.mit.edu 37 13 50279853 50279853 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr13:50279853G>C uc001vdj.2 - 15 1691 c.1276C>G c.(1276-1278)CAA>GAA p.Q426E NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 426 ARM 9. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) TGAACCACTTGAGAATCTTTC 0.363000 TGM1 7051 broad.mit.edu 37 14 24724611 24724611 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr14:24724611T>A uc001wod.2 - 11 1728 c.1604A>T c.(1603-1605)AAC>ATC p.N535I TGM1_uc010tog.1_Missense_Mutation_p.N93I NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 535 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTCCCGCATGTTGGAGCTGAT 0.547000 HECTD1 25831 broad.mit.edu 37 14 31585523 31585523 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr14:31585523T>C uc001wrc.1 - 30 6026 c.5537A>G c.(5536-5538)TAT>TGT p.Y1846C HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.Y1314C NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1846 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTTTTGTACATAGTAAAAGAT 0.378000 SPTB 6710 broad.mit.edu 37 14 65252605 65252605 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr14:65252605T>A uc001xht.2 - 16 3680 c.3626A>T c.(3625-3627)AAG>ATG p.K1209M SPTB_uc001xhr.2_Missense_Mutation_p.K1209M|SPTB_uc001xhs.2_Missense_Mutation_p.K1209M|SPTB_uc001xhu.2_Missense_Mutation_p.K1209M NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1209 Spectrin 9. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ATCCTCAAACTTCCGGATCCC 0.512000 KIAA1409 57578 broad.mit.edu 37 14 94088124 94088124 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr14:94088124C>T uc001ybv.1 + 28 4163 c.4080C>T c.(4078-4080)GAC>GAT p.D1360D KIAA1409_uc001ybs.1_Silent_p.D1338D NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1515 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTACATTAGACGAACATCGTA 0.438000 HERC2 8924 broad.mit.edu 37 15 28412927 28412927 + Missense_Mutation SNP G G A rs146303265 byFrequency TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:28412927G>A uc001zbj.2 - 68 10566 c.10460C>T c.(10459-10461)TCG>TTG p.S3487L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3487 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGAGGGGGCCGACGGAGTCAC 0.532000 KIAA1370 56204 broad.mit.edu 37 15 52970229 52970229 + Translation_Start_Site SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:52970229A>C uc002acg.3 - 2 143 c.-10T>G c.(-12--8)ATTGG>ATGGG KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Translation_Start_Site NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 0 all cancers(107;0.0803) TTTCACATCCAATTTTCGCCC 0.458000 TEX9 374618 broad.mit.edu 37 15 56704540 56704540 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:56704540G>C uc002adp.2 + 10 874 c.869G>C c.(868-870)AGT>ACT p.S290T TEX9_uc010ugl.1_Missense_Mutation_p.S215T NM_198524 NP_940926 Q8N6V9 TEX9_HUMAN testis expressed 9 290 Potential. 0 all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056) CAGGCTGCAAGTAGTCAAAGT 0.328000 MNS1 55329 broad.mit.edu 37 15 56748664 56748664 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:56748664G>A uc002adr.2 - 3 446 c.281C>T c.(280-282)GCT>GTT p.A94V MNS1_uc010bfo.2_5'UTR NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 94 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) CAATTCCATAGCCAGTTTTTC 0.348000 EDC3 80153 broad.mit.edu 37 15 74948184 74948184 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:74948184G>C uc002ayn.2 - 7 1198 c.710C>G c.(709-711)CCA>CGA p.P237R EDC3_uc002ayo.2_Missense_Mutation_p.P237R|EDC3_uc002aym.2_Missense_Mutation_p.P237R NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 237 Required for interaction with DDX6 (By similarity). exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 CCTTTCATTTGGGATGCCCCG 0.507000 KIAA1199 57214 broad.mit.edu 37 15 81187373 81187373 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:81187373T>C uc002bfw.1 + 10 1389 c.1129T>C c.(1129-1131)TAC>CAC p.Y377H KIAA1199_uc010unn.1_Missense_Mutation_p.Y377H NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 377 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CGAGGTTGTCTACAAAAAAGG 0.498000 ADAMTSL3 57188 broad.mit.edu 37 15 84506901 84506901 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:84506901G>T uc002bjz.3 + 7 885 c.661G>T c.(661-663)GCC>TCC p.A221S ADAMTSL3_uc002bjy.1_Missense_Mutation_p.A221S|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.A221S|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.A221S NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 221 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGAGTCTGTGCCGGCGATGG 0.522000 KLHL25 64410 broad.mit.edu 37 15 86311859 86311859 + Nonsense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:86311859C>A uc002bly.2 - 2 1386 c.1183G>T c.(1183-1185)GGA>TGA p.G395* NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 395 Kelch 3. cytoplasm ovary(2) 2 GATGTGTGTCCCCCCACCACA 0.602000 AGBL1 123624 broad.mit.edu 37 15 87089267 87089267 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:87089267A>C uc002blz.1 + 19 2662 c.2582A>C c.(2581-2583)AAG>ACG p.K861T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 861 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TCCCAAAAGAAGAATGTGTTC 0.438000 BLM 641 broad.mit.edu 37 15 91304081 91304081 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:91304081A>G uc002bpr.2 + 7 1575 c.1478A>G c.(1477-1479)AAT>AGT p.N493S BLM_uc010uqh.1_Missense_Mutation_p.N493S|BLM_uc010uqi.1_Missense_Mutation_p.N118S|BLM_uc010bnx.2_Missense_Mutation_p.N493S|BLM_uc002bps.1_Missense_Mutation_p.N55S NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 493 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CCTTTATTCAATACCCATTTA 0.403000 Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome PGPEP1L 145814 broad.mit.edu 37 15 99511811 99511811 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:99511811A>C uc002bum.2 - 5 693 c.487T>G c.(487-489)TTG>GTG p.L163V PGPEP1L_uc010bop.2_Silent_p.P107P|PGPEP1L_uc002bun.2_RNA NM_001102612 NP_001096082 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase 1-like protein 163 proteolysis cysteine-type peptidase activity 0 ATGACTCTCAAGGCTCTTCCC 0.562000 LYSMD4 145748 broad.mit.edu 37 15 100272076 100272076 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr15:100272076A>G uc002bvk.2 - 2 192 c.129T>C c.(127-129)TCT>TCC p.S43S LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.L14P|LYSMD4_uc002bvm.2_Silent_p.S43S|LYSMD4_uc010bov.2_Silent_p.S43S Q5XG99 LYSM4_HUMAN SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c; 43 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) CCACACGGTGAGACTCTTCTT 0.627000 TSC2 7249 broad.mit.edu 37 16 2134593 2134593 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr16:2134593G>A uc002con.2 + 34 4476 c.4370G>A c.(4369-4371)CGG>CAG p.R1457Q TSC2_uc010bsd.2_Missense_Mutation_p.R1434Q|TSC2_uc002coo.2_Missense_Mutation_p.R1390Q|TSC2_uc010uvv.1_Missense_Mutation_p.R1354Q|TSC2_uc010uvw.1_Missense_Mutation_p.R1342Q|TSC2_uc002cop.2_Missense_Mutation_p.R1213Q|TSC2_uc002coq.2_Missense_Mutation_p.R232Q|TSC2_uc002cor.2_Missense_Mutation_p.R158Q NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1457 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) AGTGGCCTCCGGCCCCGAGGT 0.672000 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis OTOA 146183 broad.mit.edu 37 16 21698841 21698841 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr16:21698841G>A uc002djh.2 + 7 508 c.507G>A c.(505-507)CAG>CAA p.Q169Q uc002diq.3_Intron|OTOA_uc010vbj.1_Silent_p.Q90Q NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 169 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GGTGTTTCCAGATGCTGAACT 0.572000 TMEM219 124446 broad.mit.edu 37 16 29979459 29979459 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr16:29979459C>A uc002duw.2 + 4 636 c.469C>A c.(469-471)CCC>ACC p.P157T uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.P157T|TMEM219_uc010bzk.1_Missense_Mutation_p.P157T|TMEM219_uc002duz.2_Missense_Mutation_p.P157T|TMEM219_uc010bzl.1_RNA NM_194280 NP_919256 Q86XT9 TM219_HUMAN transmembrane protein 219 157 integral to membrane 0 CAGCCAGCCACCCATATCCTG 0.542000 MAF 4094 broad.mit.edu 37 16 79633675 79633675 + Missense_Mutation SNP A A T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr16:79633675A>T uc002ffn.2 - 1 948 c.125T>A c.(124-126)ATC>AAC p.I42N MAF_uc002ffm.2_Missense_Mutation_p.I42N NM_001031804 NP_001026974 O75444 MAF_HUMAN v-maf musculoaponeurotic fibrosarcoma oncogene 42 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CTGGCTGATGATGCGGTCGGT 0.612000 T IGH@ MM MYH3 4621 broad.mit.edu 37 17 10544483 10544483 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:10544483C>T uc002gmq.1 - 18 2161 c.2084G>A c.(2083-2085)CGG>CAG p.R695Q NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 695 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 ACCGTTACACCGCAGCTGGTG 0.483000 RNF112 7732 broad.mit.edu 37 17 19318451 19318451 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:19318451C>T uc010vyw.1 + 11 1426 c.1227C>T c.(1225-1227)AAC>AAT p.N409N RNF112_uc010vyv.1_Silent_p.N410N|RNF112_uc010vyx.1_Silent_p.N292N NM_007148 NP_009079 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 409 GTP binding|GTPase activity|zinc ion binding ovary(2) 2 GGTACTGGAACGAGGGGCGCG 0.637000 SSH2 85464 broad.mit.edu 37 17 28004742 28004742 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:28004742C>T uc002heo.1 - 6 416 c.416G>A c.(415-417)GGC>GAC p.G139D SSH2_uc010wbh.1_Missense_Mutation_p.G166D|SSH2_uc002hep.1_Missense_Mutation_p.G139D|SSH2_uc002heq.2_Missense_Mutation_p.G146D|SSH2_uc002her.2_Missense_Mutation_p.G139D|SSH2_uc010csc.1_Missense_Mutation_p.G139D NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 139 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CAAAACTAAGCCCATGGTACA 0.443000 EVI2A 2123 broad.mit.edu 37 17 29645449 29645449 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:29645449T>G uc002hgm.2 - 2 798 c.583A>C c.(583-585)ACT>CCT p.T195P NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2A_uc002hgl.2_Missense_Mutation_p.T218P NM_014210 NP_055025 P22794 EVI2A_HUMAN ecotropic viral integration site 2A isoform 2 195 Cytoplasmic (Potential). integral to membrane transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) CTTTTCCAAGTGTCTGATTCA 0.468000 NLE1 54475 broad.mit.edu 37 17 33464132 33464132 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:33464132T>A uc002hiy.1 - 7 744 c.716A>T c.(715-717)GAG>GTG p.E239V NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a 239 WD 3. nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) GAGGATGCGCTCACAGCGGCC 0.632000 PSME3 10197 broad.mit.edu 37 17 40986840 40986840 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:40986840C>A uc002ibr.2 + 4 416 c.190C>A c.(190-192)CTC>ATC p.L64I PSME3_uc002ibp.2_Missense_Mutation_p.L3I|PSME3_uc002ibq.2_Missense_Mutation_p.L64I|PSME3_uc002ibs.2_Missense_Mutation_p.L75I|PSME3_uc010whd.1_5'UTR NM_005789 NP_005780 P61289 PSME3_HUMAN proteasome activator subunit 3 isoform 1 64 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) TGACATGAATCTCCCAGTCCC 0.428000 KIF2B 84643 broad.mit.edu 37 17 51901650 51901650 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:51901650A>C uc002iua.2 + 1 1412 c.1256A>C c.(1255-1257)AAC>ACC p.N419T uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 419 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACACCTGTCAACGCTCACTCA 0.512000 ST8SIA5 29906 broad.mit.edu 37 18 44260170 44260170 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr18:44260170C>T uc002lcj.1 - 7 1534 c.966G>A c.(964-966)TGG>TGA p.W322* ST8SIA5_uc002lci.1_Nonsense_Mutation_p.W169*|ST8SIA5_uc010xcy.1_Nonsense_Mutation_p.W358*|ST8SIA5_uc010xcz.1_Nonsense_Mutation_p.W291* NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 322 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 TGGGGAAGGCCCAGAAGCCAA 0.627000 CDH7 1005 broad.mit.edu 37 18 63511056 63511056 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr18:63511056T>G uc002ljz.2 + 7 1315 c.990T>G c.(988-990)GAT>GAG p.D330E CDH7_uc002lka.2_Missense_Mutation_p.D330E|CDH7_uc002lkb.2_Missense_Mutation_p.D330E NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 330 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AGGAGCTGGATTTTGAAGCCA 0.418000 SALL3 27164 broad.mit.edu 37 18 76753964 76753964 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr18:76753964C>T uc002lmt.2 + 2 1973 c.1973C>T c.(1972-1974)ACG>ATG p.T658M SALL3_uc010dra.2_Missense_Mutation_p.T265M NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 658 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TCGATGCAAACGTCGGAAACC 0.647000 MUC16 94025 broad.mit.edu 37 19 9071727 9071727 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:9071727T>G uc002mkp.2 - 3 15923 c.15719A>C c.(15718-15720)AAG>ACG p.K5240T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5242 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CACTGTGGACTTATCATGGTC 0.473000 ZNF793 390927 broad.mit.edu 37 19 38028045 38028045 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:38028045A>G uc010efm.2 + 8 927 c.485A>G c.(484-486)AAG>AGG p.K162R ZNF793_uc010xts.1_Missense_Mutation_p.K162R|ZNF793_uc010efo.2_Intron NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN zinc finger protein 793 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGCAAAAAAGCAAGATGAG 0.398000 CYP2A7 1549 broad.mit.edu 37 19 41383171 41383171 + Missense_Mutation SNP A A T rs150178247 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:41383171A>T uc002opm.2 - 7 1627 c.1085T>A c.(1084-1086)TTT>TAT p.F362Y CYP2A7_uc002opo.2_Missense_Mutation_p.F362Y|CYP2A7_uc002opn.2_Missense_Mutation_p.F311Y NM_000764 NP_000755 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, 362 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CACGTCTCCAAATCTTTGGAT 0.532000 PSG8 440533 broad.mit.edu 37 19 43258561 43258561 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:43258561G>A uc002ouo.2 - 5 1265 c.1167C>T c.(1165-1167)AGC>AGT p.S389S PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Silent_p.S228S|PSG8_uc002ouh.2_Silent_p.S389S|PSG8_uc010ein.2_Silent_p.S267S|PSG8_uc002ouj.3_Silent_p.S171S|PSG8_uc002ouk.3_Silent_p.S228S|PSG8_uc002oul.3_Silent_p.S389S|PSG8_uc002oum.3_Silent_p.S296S|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Silent_p.S296S NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 389 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) CATAGAGCCCGCTATGCTTTG 0.468000 ZNF227 7770 broad.mit.edu 37 19 44740983 44740983 + Nonstop_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:44740983G>T uc002oyu.2 + 6 2605 c.2400G>T c.(2398-2400)TAG>TAT p.*800Y ZNF227_uc010xwu.1_Nonstop_Mutation_p.*749Y|ZNF227_uc002oyv.2_Nonstop_Mutation_p.*800Y|ZNF227_uc010xwv.1_Nonstop_Mutation_p.*749Y|ZNF227_uc010xww.1_Nonstop_Mutation_p.*721Y|ZNF227_uc002oyw.2_Nonstop_Mutation_p.*772Y|ZNF227_uc010ejh.2_Nonstop_Mutation_p.*793Y|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 800 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) AAAAGCTTTAGAAATGAGAAA 0.388000 SLC6A16 28968 broad.mit.edu 37 19 49814483 49814483 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:49814483G>T uc002pmz.2 - 2 356 c.122C>A c.(121-123)TCT>TAT p.S41Y SLC6A16_uc002pna.2_Missense_Mutation_p.S41Y|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 41 Cytoplasmic (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) AGATGTTGCAGACCGGGTCAA 0.547000 TEAD2 8463 broad.mit.edu 37 19 49862699 49862699 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:49862699C>T uc002pnj.2 - 3 381 c.290G>A c.(289-291)CGA>CAA p.R97Q TEAD2_uc002png.2_Missense_Mutation_p.R97Q|TEAD2_uc002pnh.2_Missense_Mutation_p.R97Q|TEAD2_uc002pni.2_Missense_Mutation_p.R97Q|TEAD2_uc010yao.1_5'UTR|TEAD2_uc010emw.2_Missense_Mutation_p.R97Q NM_003598 NP_003589 Q15562 TEAD2_HUMAN TEA domain family member 2 97 TEA. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1) 3 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GACCTGTTTTCGAGTTCGGGT 0.512000 CNOT3 4849 broad.mit.edu 37 19 54656052 54656052 + Silent SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:54656052G>C uc002qdj.1 + 14 2006 c.1695G>C c.(1693-1695)CTG>CTC p.L565L CNOT3_uc010yel.1_Silent_p.L565L|CNOT3_uc002qdi.2_Silent_p.L478L|CNOT3_uc002qdk.1_Silent_p.L565L|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Silent_p.L20L NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 565 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGCTGCACCTGACCGAGCGAG 0.667000 LILRA2 11027 broad.mit.edu 37 19 55087526 55087526 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:55087526A>G uc002qgg.3 + 6 1294 c.1205A>G c.(1204-1206)AAC>AGC p.N402S LILRA2_uc010ern.2_Missense_Mutation_p.N402S|LILRA2_uc002qgf.2_Missense_Mutation_p.N402S|LILRA2_uc010yfe.1_Missense_Mutation_p.N402S|LILRA2_uc010yff.1_Missense_Mutation_p.N390S|LILRA2_uc010ero.2_Missense_Mutation_p.N390S|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 402 Ig-like C2-type 4.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTCAGCTCCAACCCCTACCTG 0.607000 NLRP5 126206 broad.mit.edu 37 19 56569735 56569735 + Nonsense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:56569735T>A uc002qmj.2 + 14 3429 c.3429T>A c.(3427-3429)TGT>TGA p.C1143* NLRP5_uc002qmi.2_Nonsense_Mutation_p.C1124* NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 1143 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGAAGCTGTGTTCGGCCTTTG 0.498000 ZNF584 201514 broad.mit.edu 37 19 58929139 58929139 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:58929139C>T uc002qsp.2 + 4 1706 c.1254C>T c.(1252-1254)GTC>GTT p.V418V ZNF584_uc010yia.1_RNA|ZNF584_uc002qsr.2_Silent_p.V373V|ZNF584_uc010yib.1_3'UTR NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN zinc finger protein 584 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) ATGGGAAGGTCGTTAGCTGCT 0.512000 GDF7 151449 broad.mit.edu 37 2 20870362 20870362 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:20870362C>T uc002rdz.1 + 2 1106 c.530C>T c.(529-531)CCG>CTG p.P177L NM_182828 NP_878248 Q7Z4P5 GDF7_HUMAN growth differentiation factor 7 preproprotein 177 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGACTTCTCCGCCGTTGCTG 0.716000 GPN1 11321 broad.mit.edu 37 2 27861084 27861084 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:27861084T>A uc010ymc.1 + 8 595 c.574T>A c.(574-576)TAC>AAC p.Y192N GPN1_uc010ezf.2_Missense_Mutation_p.Y166N|GPN1_uc010yma.1_Missense_Mutation_p.Y99N|GPN1_uc010ymb.1_Missense_Mutation_p.Y83N|GPN1_uc010ymd.1_Missense_Mutation_p.Y73N|GPN1_uc010yme.1_Missense_Mutation_p.Y192N|GPN1_uc010ezg.1_Missense_Mutation_p.Y73N NM_007266 NP_009197 Q9HCN4 GPN1_HUMAN GPN-loop GTPase 1 isoform a 178 cytoplasm GTP binding|nucleoside-triphosphatase activity|protein binding 0 CAGCATCTTATACAAAACCAA 0.373000 NRXN1 9378 broad.mit.edu 37 2 50724814 50724814 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:50724814T>A uc010fbq.2 - 14 4133 c.2656A>T c.(2656-2658)AAC>TAC p.N886Y NRXN1_uc002rxb.3_Missense_Mutation_p.N518Y|NRXN1_uc002rxe.3_Missense_Mutation_p.N846Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 212 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTCTCTATGTTATGGAACTCC 0.403000 CCDC85A 114800 broad.mit.edu 37 2 56420020 56420020 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:56420020G>A uc002rzn.2 + 2 1187 c.685G>A c.(685-687)GCG>ACG p.A229T NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 229 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAAGCACCACGCGAGCAGTGG 0.682000 ANXA4 307 broad.mit.edu 37 2 70033572 70033572 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:70033572T>A uc002sfr.3 + 5 475 c.248T>A c.(247-249)GTG>GAG p.V83E ANXA4_uc010yqn.1_Intron|ANXA4_uc002sfs.3_Intron|ANXA4_uc010yqo.1_5'UTR NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 81 Annexin 1. anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 CAGGTGATTGTGGGGATGATG 0.512000 KDM3A 55818 broad.mit.edu 37 2 86716717 86716717 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:86716717C>G uc002sri.3 + 23 3835 c.3508C>G c.(3508-3510)CCA>GCA p.P1170A KDM3A_uc010ytj.1_Missense_Mutation_p.P1170A|KDM3A_uc010ytk.1_Missense_Mutation_p.P1118A NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1170 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 AAAAGAGAAGCCAGGAGCACT 0.418000 MARCO 8685 broad.mit.edu 37 2 119751970 119751970 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:119751970G>A uc002tln.1 + 17 1569 c.1437G>A c.(1435-1437)GGG>GGA p.G479G MARCO_uc010yyf.1_Silent_p.G401G NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 479 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 AAGGCACTGGGCAGATCTGGC 0.547000 GLI2 2736 broad.mit.edu 37 2 121746631 121746631 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:121746631G>A uc010flp.2 + 13 3171 c.3141G>A c.(3139-3141)GCG>GCA p.A1047A GLI2_uc002tmq.1_Silent_p.A719A|GLI2_uc002tmr.1_Silent_p.A702A|GLI2_uc002tmt.3_Silent_p.A719A|GLI2_uc002tmu.3_Silent_p.A702A NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1047 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) TGGACGGCGCGGGGCCCGAGG 0.736000 XIRP2 129446 broad.mit.edu 37 2 168103997 168103997 + Missense_Mutation SNP G G A rs111389244 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:168103997G>A uc002udx.2 + 8 6113 c.6095G>A c.(6094-6096)CGT>CAT p.R2032H XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.R1857H|XIRP2_uc010fpq.2_Missense_Mutation_p.R1810H|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1857 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTCATAGATCGTGAACAAAAC 0.393000 HECW2 57520 broad.mit.edu 37 2 197183523 197183523 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:197183523C>T uc002utm.1 - 9 2274 c.2091G>A c.(2089-2091)TCG>TCA p.S697S HECW2_uc002utl.1_Silent_p.S341S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 697 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CGGATTCCTGCGACCCTTCGG 0.612000 PARD3B 117583 broad.mit.edu 37 2 205989155 205989155 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:205989155G>T uc002var.1 + 9 1477 c.1270G>T c.(1270-1272)GAT>TAT p.D424Y PARD3B_uc010fub.1_Missense_Mutation_p.D424Y|PARD3B_uc002vao.1_Missense_Mutation_p.D424Y|PARD3B_uc002vap.1_Missense_Mutation_p.D424Y|PARD3B_uc002vaq.1_Missense_Mutation_p.D424Y NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 424 PDZ 2. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) AGCAATAAAAGATGGCCGCCT 0.373000 NMUR1 10316 broad.mit.edu 37 2 232392858 232392858 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr2:232392858G>A uc002vry.3 - 2 984 c.874C>T c.(874-876)CGG>TGG p.R292W NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 292 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) ACTTGTCTCCGGCCCCGATCG 0.647000 KIF16B 55614 broad.mit.edu 37 20 16486769 16486769 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:16486769T>G uc002wpg.1 - 8 924 c.766A>C c.(766-768)AGT>CGT p.S256R KIF16B_uc010gch.1_Missense_Mutation_p.S256R|KIF16B_uc010gci.1_Missense_Mutation_p.S256R|KIF16B_uc010gcj.1_Missense_Mutation_p.S256R NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 256 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GCACGCTCACTTCCGGCAAGA 0.458000 C20orf12 55184 broad.mit.edu 37 20 18429663 18429663 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:18429663C>G uc010zsa.1 - 7 860 c.651G>C c.(649-651)GAG>GAC p.E217D C20orf12_uc002wqr.3_RNA|C20orf12_uc002wqs.3_Missense_Mutation_p.E84D|C20orf12_uc002wqq.3_Missense_Mutation_p.E198D|C20orf12_uc002wqu.1_RNA|C20orf12_uc010gct.1_RNA NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN hypothetical protein LOC55184 25 intracellular zinc ion binding ovary(1) 1 Myeloproliferative disorder(85;0.0122) TTCTCATTATCTCCGTGCTTG 0.368000 PHF20 51230 broad.mit.edu 37 20 34526800 34526800 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:34526800C>T uc002xek.1 + 16 2593 c.2482C>T c.(2482-2484)CGT>TGT p.R828C NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 828 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) GCCCCTGCCGCGTTCTGTGGA 0.602000 EPB41L1 2036 broad.mit.edu 37 20 34778617 34778617 + Nonsense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:34778617C>T uc002xfb.2 + 11 1369 c.1198C>T c.(1198-1200)CAG>TAG p.Q400* EPB41L1_uc002xeu.2_Nonsense_Mutation_p.Q338*|EPB41L1_uc010zvo.1_Nonsense_Mutation_p.Q400*|EPB41L1_uc002xev.2_Nonsense_Mutation_p.Q400*|EPB41L1_uc002xew.2_Nonsense_Mutation_p.Q303*|EPB41L1_uc002xex.2_Nonsense_Mutation_p.Q369*|EPB41L1_uc002xey.2_Nonsense_Mutation_p.Q327*|EPB41L1_uc002xez.2_Nonsense_Mutation_p.Q338* NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 400 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) TGGGAGGACCCAGGCACAGAC 0.637000 CHD6 84181 broad.mit.edu 37 20 40049424 40049424 + Missense_Mutation SNP C C T rs61752058 byFrequency TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:40049424C>T uc002xka.1 - 31 6029 c.5851G>A c.(5851-5853)GAG>AAG p.E1951K NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1951 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) TCATCATTCTCGAGGCCATGC 0.502000 IFT52 51098 broad.mit.edu 37 20 42252656 42252656 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:42252656G>A uc002xkw.2 + 10 1016 c.894G>A c.(892-894)CTG>CTA p.L298L IFT52_uc002xky.2_Silent_p.L298L|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Silent_p.L274L|IFT52_uc002xkz.2_Silent_p.L298L NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 298 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCTTCCAGCTGGATACCACCT 0.532000 TOX2 84969 broad.mit.edu 37 20 42574562 42574562 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:42574562A>G uc002xlf.3 + 1 27 c.10A>G c.(10-12)ACT>GCT p.T4A TOX2_uc010ggo.2_Intron|TOX2_uc002xle.3_Intron|TOX2_uc010ggp.2_Intron NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TATGCAGCAGACTCGCACAGA 0.537000 SLC12A5 57468 broad.mit.edu 37 20 44674590 44674590 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:44674590G>A uc010zxl.1 + 13 1788 c.1712G>A c.(1711-1713)GGC>GAC p.G571D SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.G548D NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 571 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCGAGATTGGCATCCTCATT 0.582000 ADNP 23394 broad.mit.edu 37 20 49509123 49509123 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:49509123G>C uc002xvt.1 - 5 2473 c.2128C>G c.(2128-2130)CCA>GCA p.P710A ADNP_uc002xvu.1_Missense_Mutation_p.P710A NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 710 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 GCCAGACTTGGAGACTGATTA 0.463000 C20orf106 200232 broad.mit.edu 37 20 55100041 55100041 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:55100041A>G uc002xxx.2 + 1 257 c.177A>G c.(175-177)AAA>AAG p.K59K GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Silent_p.K59K NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor 59 Helical; (Potential). integral to membrane 0 Colorectal(105;0.202) TTGGGAGCAAATGGCTCTGGC 0.483000 SLC17A9 63910 broad.mit.edu 37 20 61588204 61588204 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr20:61588204C>G uc002yea.3 + 2 331 c.147C>G c.(145-147)GTC>GTG p.V49V SLC17A9_uc002ydz.3_Silent_p.V43V|SLC17A9_uc011aap.1_Silent_p.V69V NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 49 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 TCTGCACCGTCTCCATGAGCC 0.647000 KRTAP13-2 337959 broad.mit.edu 37 21 31744376 31744376 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr21:31744376G>A uc002ynz.3 - 1 182 c.156C>T c.(154-156)CTC>CTT p.L52L NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 52 1.|5 X 10 AA approximate repeats. intermediate filament 0 AGCCCCTATAGAGAGAGGAAC 0.612000 KRTAP19-7 337974 broad.mit.edu 37 21 31933515 31933515 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr21:31933515A>C uc011adb.1 - 1 94 c.94T>G c.(94-96)TTC>GTC p.F32V NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 32 intermediate filament 0 AGTCTGCGGAAGCTGCCACAT 0.547000 DYRK1A 1859 broad.mit.edu 37 21 38845158 38845158 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr21:38845158G>C uc002ywk.2 + 2 258 c.183G>C c.(181-183)CAG>CAC p.Q61H DYRK1A_uc002ywg.1_RNA|DYRK1A_uc010gno.1_RNA|DYRK1A_uc002ywh.1_Missense_Mutation_p.Q32H|DYRK1A_uc002ywi.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywj.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywl.2_Missense_Mutation_p.Q61H|DYRK1A_uc002ywm.2_Missense_Mutation_p.Q61H NM_001396 NP_001387 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 61 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity ovary(2)|lung(1)|breast(1) 4 ATTCTGACCAGATTCAGCAAC 0.423000 MX1 4599 broad.mit.edu 37 21 42821220 42821220 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr21:42821220C>T uc002yzh.2 + 16 2377 c.1430C>T c.(1429-1431)ACG>ATG p.T477M MX1_uc002yzi.2_Missense_Mutation_p.T477M|MX1_uc010goq.2_Missense_Mutation_p.T477M NM_001144925 NP_001138397 P20591 MX1_HUMAN myxovirus resistance protein 1 477 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) CACACCGTGACGGGTGAGTGC 0.463000 MYH9 4627 broad.mit.edu 37 22 36681783 36681783 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr22:36681783G>A uc003apg.2 - 37 5426 c.5195C>T c.(5194-5196)GCC>GTC p.A1732V NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1732 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 ctccagctGGGCGATGCGGGC 0.587000 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated BAIAP2L2 80115 broad.mit.edu 37 22 38482283 38482283 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr22:38482283C>G uc003auw.2 - 12 1577 c.1433G>C c.(1432-1434)AGC>ACC p.S478T BAIAP2L2_uc003auv.2_RNA NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 478 filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) GCTGCCCATGCTGCTGCGGCG 0.706000 FAM83F 113828 broad.mit.edu 37 22 40417550 40417550 + Missense_Mutation SNP C C T rs145428025 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr22:40417550C>T uc003ayk.1 + 4 1130 c.1036C>T c.(1036-1038)CGG>TGG p.R346W NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 346 breast(1) 1 CTGGGCTGCCCGGCAACAGCG 0.677000 MST1R 4486 broad.mit.edu 37 3 49928023 49928023 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:49928023G>C uc003cxy.3 - 18 3969 c.3705C>G c.(3703-3705)GAC>GAG p.D1235E MST1R_uc011bdc.1_Missense_Mutation_p.D114E NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1235 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGTACTCCCTGTCCAGGATGT 0.547000 PARP14 54625 broad.mit.edu 37 3 122414498 122414498 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:122414498T>C uc003efq.3 + 5 883 c.824T>C c.(823-825)TTT>TCT p.F275S PARP14_uc010hrk.2_RNA NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) ATTGAATTTTTTGACAGAAAA 0.214000 ITGB5 3693 broad.mit.edu 37 3 124515266 124515266 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:124515266G>A uc003eho.2 - 10 1959 c.1662C>T c.(1660-1662)TCC>TCT p.S554S ITGB5_uc010hrx.2_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 554 Extracellular (Potential).|II.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) TCCTGGCACAGGAGAAGTTGT 0.577000 CLSTN2 64084 broad.mit.edu 37 3 140122503 140122503 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:140122503G>T uc003etn.2 + 3 455 c.265G>T c.(265-267)GAG>TAG p.E89* CLSTN2_uc003etm.2_Nonsense_Mutation_p.E89* NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 89 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CCATGGCCAGGAGCTGCCCTT 0.527000 HNSCC(16;0.037) MME 4311 broad.mit.edu 37 3 154856014 154856014 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:154856014G>A uc010hvr.1 + 9 1055 c.844G>A c.(844-846)GAA>AAA p.E282K MME_uc003fab.1_Missense_Mutation_p.E282K|MME_uc003fac.1_Missense_Mutation_p.E282K|MME_uc003fad.1_Missense_Mutation_p.E282K|MME_uc003fae.1_Missense_Mutation_p.E282K NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 282 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ATTGGAAAAAGAAATTGCCAA 0.338000 PIK3CA 5290 broad.mit.edu 37 3 178952007 178952007 + Missense_Mutation SNP A A G rs121913288 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr3:178952007A>G uc003fjk.2 + 21 3219 c.3062A>G c.(3061-3063)TAC>TGC p.Y1021C NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1021 PI3K/PI4K. Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Y1021C(17)|p.Y1021H(2)|p.Y1021N(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GACATTGCATACATTCGAAAG 0.388000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) C4orf37 285555 broad.mit.edu 37 4 98633959 98633959 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr4:98633959G>A uc003htt.1 - 10 1301 c.1211C>T c.(1210-1212)GCA>GTA p.A404V NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 404 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) ATTGTATGCTGCAGGACCTGA 0.343000 FAT4 79633 broad.mit.edu 37 4 126370611 126370611 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr4:126370611G>T uc003ifj.3 + 9 8440 c.8440G>T c.(8440-8442)GCA>TCA p.A2814S FAT4_uc011cgp.1_Missense_Mutation_p.A1112S|FAT4_uc003ifi.1_Missense_Mutation_p.A292S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2814 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TATAATGGATGCAAGTCTTCC 0.398000 ODZ3 55714 broad.mit.edu 37 4 183713739 183713739 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr4:183713739G>T uc003ivd.1 + 25 5951 c.5914G>T c.(5914-5916)GAA>TAA p.E1972* NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1972 Extracellular (Potential).|YD 11. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TACCTATGATGAAACAGCAGG 0.403000 SLC6A3 6531 broad.mit.edu 37 5 1409887 1409887 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:1409887C>T uc003jck.2 - 10 1468 c.1347G>A c.(1345-1347)ACG>ACA p.T449T NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 449 Helical; Name=9; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CGATGAAGAGCGTGAAGAGCT 0.582000 ADCY2 108 broad.mit.edu 37 5 7396565 7396565 + Silent SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:7396565C>G uc003jdz.1 + 1 223 c.156C>G c.(154-156)CTC>CTG p.L52L NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 52 Helical; (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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TCCTGCTGCTCATCGTCATGG 0.716000 C5orf49 134121 broad.mit.edu 37 5 7832018 7832018 + Missense_Mutation SNP T T G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:7832018T>G uc003jea.3 - 3 519 c.389A>C c.(388-390)AAG>ACG p.K130T NM_001089584 NP_001083053 A4QMS7 CE049_HUMAN hypothetical protein LOC134121 130 0 GATGTCGTTCTTCCTGTAGAA 0.582000 DNAH5 1767 broad.mit.edu 37 5 13922344 13922344 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:13922344C>T uc003jfd.2 - 5 574 c.532G>A c.(532-534)GCC>ACC p.A178T DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 178 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGGCTCGTGGCTCTGAGAGCA 0.552000 Kartagener_syndrome MARCH11 441061 broad.mit.edu 37 5 16067798 16067798 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:16067798C>T uc003jfo.2 - 4 1204 c.991G>A c.(991-993)GAA>AAA p.E331K MARCH11_uc010itw.1_Missense_Mutation_p.E87K NM_001102562 NP_001096032 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 331 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding 0 CTGCTTTCTTCGATGTCTGTG 0.478000 PDZD2 23037 broad.mit.edu 37 5 32089722 32089722 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:32089722C>T uc003jhl.2 + 20 6556 c.6168C>T c.(6166-6168)CGC>CGT p.R2056R PDZD2_uc003jhm.2_Silent_p.R2056R NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2056 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GTGAGCCGCGCCTGGCCAGCC 0.647000 ARAP3 64411 broad.mit.edu 37 5 141033762 141033762 + Nonsense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:141033762C>A uc003llm.2 - 33 4468 c.4390G>T c.(4390-4392)GAG>TAG p.E1464* ARAP3_uc003lll.2_Nonsense_Mutation_p.E415*|ARAP3_uc011dbe.1_Nonsense_Mutation_p.E1113*|ARAP3_uc003lln.2_Nonsense_Mutation_p.E1295* NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1464 Pro-rich. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GGAGGGGGCTCAGGTGGCCTC 0.612000 ERVFRDE1 405754 broad.mit.edu 37 6 11105535 11105535 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:11105535C>T uc003mzt.2 - 2 379 c.9G>A c.(7-9)CTG>CTA p.L3L LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron NM_207582 NP_997465 P60508 EFRD1_HUMAN syncytin 2 3 integral to membrane|plasma membrane|virion 0 CCAGCAGGAGCAGGCCCATGG 0.478000 HIST1H1C 3006 broad.mit.edu 37 6 26056139 26056139 + Missense_Mutation SNP C C G rs145521943 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:26056139C>G uc003nfw.2 - 1 561 c.518G>C c.(517-519)AGC>ACC p.S173T NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 173 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 CTTCTTTGGGCTCTTAGCCAC 0.562000 HIST1H4E 8367 broad.mit.edu 37 6 26204985 26204985 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:26204985T>A uc003ngy.2 + 1 113 c.113T>A c.(112-114)CTT>CAT p.L38H NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 38 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) ATCCGGCGCCTTGCTCGTCGC 0.572000 C6orf125 84300 broad.mit.edu 37 6 33679443 33679443 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:33679443C>T uc003ofa.1 - 1 62 c.21G>A c.(19-21)CGG>CGA p.R7R C6orf125_uc010jve.1_RNA NM_032340 NP_115716 Q9BRT2 CF125_HUMAN hypothetical protein LOC84300 7 0 TAAGAAAACGCCGGTACCGGC 0.667000 RIPPLY2 134701 broad.mit.edu 37 6 84563444 84563444 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:84563444C>T uc003pke.2 + 2 277 c.126C>T c.(124-126)GAC>GAT p.D42D NM_001009994 NP_001009994 Q5TAB7 RIPP2_HUMAN ripply2 protein 42 somite rostral/caudal axis specification nucleus 0 CCTGGGTGGACGCCGGAGGCA 0.667000 NCOA7 135112 broad.mit.edu 37 6 126248844 126248844 + Missense_Mutation SNP C C G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:126248844C>G uc010kes.2 + 16 3008 c.2559C>G c.(2557-2559)TTC>TTG p.F853L NCOA7_uc003qae.3_Missense_Mutation_p.F853L|NCOA7_uc003qah.2_Missense_Mutation_p.F842L|NCOA7_uc003qai.2_Missense_Mutation_p.F853L|NCOA7_uc010ket.2_Missense_Mutation_p.F738L|NCOA7_uc003qak.2_Missense_Mutation_p.F130L NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 853 TLD. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CTTTCAAGTTCAGTGACCACT 0.393000 RSPO3 84870 broad.mit.edu 37 6 127471646 127471646 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:127471646T>A uc003qar.2 + 3 655 c.365T>A c.(364-366)CTT>CAT p.L122H RSPO3_uc003qas.1_Missense_Mutation_p.L122H NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 122 FU 2. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) TACTTACACCTTGGAAAGTGC 0.363000 SLC22A1 6580 broad.mit.edu 37 6 160560841 160560841 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr6:160560841G>A uc003qtc.2 + 7 1323 c.1218G>A c.(1216-1218)ATG>ATA p.M406I SLC22A1_uc003qtd.2_Missense_Mutation_p.M406I NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 406 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TCTACCCCATGGCCATGTCAA 0.527000 MAGI2 9863 broad.mit.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr7:77885499A>C uc003ugx.2 - 10 2062 c.1808T>G c.(1807-1809)CTT>CGT p.L603R MAGI2_uc003ugy.2_Missense_Mutation_p.L603R|MAGI2_uc010ldx.1_Missense_Mutation_p.L212R|MAGI2_uc010ldy.1_Missense_Mutation_p.L212R|MAGI2_uc011kgr.1_Missense_Mutation_p.L435R|MAGI2_uc011kgs.1_Missense_Mutation_p.L440R NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 603 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAAGGTCATAAGTTCAGCTTG 0.522000 ZNF804B 219578 broad.mit.edu 37 7 88963320 88963320 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr7:88963320G>T uc011khi.1 + 4 1562 c.1024G>T c.(1024-1026)GAA>TAA p.E342* NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 342 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TACCAGCAGAGAAAAAGAAAC 0.353000 HNSCC(36;0.09) AKAP9 10142 broad.mit.edu 37 7 91632525 91632525 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr7:91632525A>C uc003ulg.2 + 8 3519 c.3294A>C c.(3292-3294)GAA>GAC p.E1098D AKAP9_uc003ule.2_Missense_Mutation_p.E1110D|AKAP9_uc003ulf.2_Missense_Mutation_p.E1098D|AKAP9_uc003uli.2_Missense_Mutation_p.E723D NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1110 Potential. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTCAGAAAGAACTCAATGTAC 0.328000 T BRAF papillary thyroid TRRAP 8295 broad.mit.edu 37 7 98503872 98503872 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr7:98503872C>T uc003upp.2 + 13 1318 c.1109C>T c.(1108-1110)ACT>ATT p.T370I TRRAP_uc011kis.1_Missense_Mutation_p.T370I|TRRAP_uc003upr.2_Missense_Mutation_p.T62I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 370 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCCAGAGAGACTCTAAGGTAT 0.413000 TRRAP 8295 broad.mit.edu 37 7 98581821 98581821 + Missense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr7:98581821T>A uc003upp.2 + 60 9349 c.9140T>A c.(9139-9141)ATC>AAC p.I3047N TRRAP_uc011kis.1_Missense_Mutation_p.I3018N|TRRAP_uc003upr.2_Missense_Mutation_p.I2735N NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3047 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TATGGAAAAATCGCCCGGAAA 0.438000 ADRA1A 148 broad.mit.edu 37 8 26722075 26722075 + Missense_Mutation SNP C C T rs140950299 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:26722075C>T uc003xfh.1 - 1 848 c.412G>A c.(412-414)GTC>ATC p.V138I ADRA1A_uc003xfc.1_Missense_Mutation_p.V138I|ADRA1A_uc010lul.1_Missense_Mutation_p.V138I|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.V138I|ADRA1A_uc010lum.1_Missense_Mutation_p.V138I|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.V138I NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 138 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CTCTGGGTGACGATGGTTGGG 0.632000 TEX15 56154 broad.mit.edu 37 8 30701489 30701489 + Nonsense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:30701489A>C uc003xil.2 - 1 5045 c.5045T>G c.(5044-5046)TTA>TGA p.L1682* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1682 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ACATGGTTTTAATGTGTGTTT 0.348000 GDAP1 54332 broad.mit.edu 37 8 75262744 75262744 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:75262744G>A uc003yah.2 + 1 127 c.48G>A c.(46-48)GCG>GCA p.A16A GDAP1_uc011lfj.1_5'UTR|GDAP1_uc003yai.2_Intron NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 16 AE -> GK (in Ref. 1; CAA76892). cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) CCTTGAGGGCGGAAGGCAAGG 0.642000 RGS22 26166 broad.mit.edu 37 8 101075729 101075729 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:101075729T>C uc003yjb.1 - 8 1462 c.1267A>G c.(1267-1269)AAA>GAA p.K423E RGS22_uc003yja.1_Missense_Mutation_p.K242E|RGS22_uc003yjc.1_Missense_Mutation_p.K411E|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 423 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AATGTACCTTTTATAAATTTC 0.383000 DCAF13 25879 broad.mit.edu 37 8 104427550 104427550 + Missense_Mutation SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:104427550G>A uc003yln.2 + 1 609 c.332G>A c.(331-333)CGC>CAC p.R111H SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 CCAGCAGGCCGCCGCTCCGCG 0.637000 RIMS2 9699 broad.mit.edu 37 8 104709365 104709365 + Silent SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:104709365A>G uc003ylp.2 + 2 367 c.228A>G c.(226-228)GGA>GGG p.G76G NM_001100117 NP_001093587 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 107 RabBD. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAAGATGGGAGAAGAATCAC 0.403000 HNSCC(12;0.0054) TG 7038 broad.mit.edu 37 8 133898821 133898821 + Missense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:133898821G>T uc003ytw.2 + 9 1245 c.1204G>T c.(1204-1206)GCC>TCC p.A402S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 402 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCCAAGAGTAGCCAGATTTGC 0.557000 ZNF623 9831 broad.mit.edu 37 8 144732869 144732869 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr8:144732869C>T uc003yzd.2 + 1 916 c.827C>T c.(826-828)TCG>TTG p.S276L ZNF623_uc011lkp.1_Missense_Mutation_p.S236L|ZNF623_uc003yzc.2_Missense_Mutation_p.S236L NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 276 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) ATAAGGAGCTCGAGCCTCATT 0.468000 PTPRD 5789 broad.mit.edu 37 9 8331655 8331655 + Missense_Mutation SNP T T C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:8331655T>C uc003zkk.2 - 43 6172 c.5461A>G c.(5461-5463)ATT>GTT p.I1821V PTPRD_uc003zkp.2_Missense_Mutation_p.I1415V|PTPRD_uc003zkq.2_Missense_Mutation_p.I1414V|PTPRD_uc003zkr.2_Missense_Mutation_p.I1405V|PTPRD_uc003zks.2_Missense_Mutation_p.I1414V|PTPRD_uc003zkl.2_Missense_Mutation_p.I1812V|PTPRD_uc003zkm.2_Missense_Mutation_p.I1808V|PTPRD_uc003zkn.2_Missense_Mutation_p.I1410V|PTPRD_uc003zko.2_Missense_Mutation_p.I1411V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1821 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. 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) ATGAAGTCAATAAATCCTTCT 0.468000 TSP Lung(15;0.13) FOXB2 442425 broad.mit.edu 37 9 79634960 79634960 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:79634960C>T uc004ako.1 + 1 390 c.390C>T c.(388-390)GCC>GCT p.A130A NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 130 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CGCCGGGCGCCGGTCCGGGAG 0.433000 EPB41L4B 54566 broad.mit.edu 37 9 111947780 111947780 + Nonsense_Mutation SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:111947780T>A uc004bdz.1 - 23 2702 c.2407A>T c.(2407-2409)AAA>TAA p.K803* NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 803 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 AGCCTCGTTTTGATTGGAGGG 0.637000 PAPPA 5069 broad.mit.edu 37 9 118974066 118974066 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:118974066G>A uc004bjn.2 + 4 2154 c.1773G>A c.(1771-1773)GAG>GAA p.E591E PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 591 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 TGGAGACAGAGCCCTCCTTCG 0.552000 RAPGEF1 2889 broad.mit.edu 37 9 134497285 134497285 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:134497285C>A uc004cbc.2 - 11 1882 c.1752G>T c.(1750-1752)AAG>AAT p.K584N RAPGEF1_uc004cbb.2_Missense_Mutation_p.K602N|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.K589N|RAPGEF1_uc004cbd.2_Missense_Mutation_p.K589N|RAPGEF1_uc010mzs.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzl.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzo.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzp.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzq.1_Missense_Mutation_p.K30N|RAPGEF1_uc010mzr.1_Missense_Mutation_p.K30N NM_005312 NP_005303 Q13905 RPGF1_HUMAN guanine nucleotide-releasing factor 2 isoform a 584 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding lung(3)|ovary(2)|breast(1)|skin(1) 7 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CCATGAGGAGCTTGTTCTTCT 0.622000 C9orf96 169436 broad.mit.edu 37 9 136253262 136253262 + Missense_Mutation SNP A A C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr9:136253262A>C uc004cdk.2 + 5 387 c.326A>C c.(325-327)GAG>GCG p.E109A C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 109 Protein kinase. ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTGGTGATGGAGTTCAATGAG 0.572000 MXRA5 25878 broad.mit.edu 37 X 3227890 3227890 + Missense_Mutation SNP C C A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:3227890C>A uc004crg.3 - 7 8511 c.8354G>T c.(8353-8355)GGA>GTA p.G2785V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2785 Ig-like C2-type 12. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAATCTGTTTCCATACAGACG 0.512000 ARAF 369 broad.mit.edu 37 X 47422726 47422726 + Missense_Mutation SNP G G C TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:47422726G>C uc011mlq.1 + 3 331 c.198G>C c.(196-198)AAG>AAC p.K66N ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_5'UTR|ARAF_uc011mlp.1_Missense_Mutation_p.K66N|ARAF_uc004dic.1_5'Flank NM_001654 NP_001645 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene 66 RBD. intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity large_intestine(3)|lung(2)|ovary(1)|skin(1) 7 Adenosine triphosphate(DB00171) GACTCATCAAGGGGTGAGTGT 0.557000 PHF8 23133 broad.mit.edu 37 X 54014281 54014281 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:54014281G>A uc004dsu.2 - 15 2008 c.1935C>T c.(1933-1935)GAC>GAT p.D645D PHF8_uc004dst.2_Silent_p.D609D|PHF8_uc004dsv.2_Silent_p.D475D|PHF8_uc004dsw.2_Silent_p.D508D|PHF8_uc004dsx.2_Silent_p.D373D|PHF8_uc004dsy.2_Silent_p.D609D NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 645 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 AGTCAAATTCGTCTTCCATCA 0.453000 AR 367 broad.mit.edu 37 X 66765698 66765698 + Missense_Mutation SNP A A G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:66765698A>G uc004dwu.1 + 1 1825 c.710A>G c.(709-711)AAG>AGG p.K237R AR_uc011mpd.1_Missense_Mutation_p.K237R|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.K237R NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 235 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GACAACGCCAAGGAGTTGTGT 0.607000 Androgen_Insensitivity_Syndrome P2RY10 27334 broad.mit.edu 37 X 78216896 78216896 + Silent SNP T T A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:78216896T>A uc004ede.2 + 4 1248 c.879T>A c.(877-879)CTT>CTA p.L293L P2RY10_uc004edf.2_Silent_p.L293L NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 293 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 GCCTGTGCCTTGCAAGTCTCT 0.443000 MCART6 401612 broad.mit.edu 37 X 103349893 103349893 + Silent SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:103349893C>T uc004elu.2 - 2 229 c.48G>A c.(46-48)ACG>ACA p.T16T NM_001012755 NP_001012773 Q5H9E4 MCAR6_HUMAN mitochondrial carrier triple repeat 6 16 transport integral to membrane|mitochondrial inner membrane 0 CCTCTGCTCGCGTCCTGTGCT 0.517000 ACTRT1 139741 broad.mit.edu 37 X 127185859 127185859 + Silent SNP G G A TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:127185859G>A uc004eum.2 - 1 524 c.327C>T c.(325-327)ACC>ACT p.T109T NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 109 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 AAGAGGGCTCGGTCATAAGTA 0.478000 GPR50 9248 broad.mit.edu 37 X 150349052 150349052 + Missense_Mutation SNP C C T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:150349052C>T uc010ntg.1 + 2 1132 c.997C>T c.(997-999)CGT>TGT p.R333C uc004fes.1_5'Flank|GPR50_uc011myc.1_3'UTR NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 333 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) GCAGGAGGCCCGTACCCTGGC 0.567000 F8 2157 broad.mit.edu 37 X 154176146 154176146 + Nonsense_Mutation SNP G G T TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chrX:154176146G>T uc004fmt.2 - 13 2111 c.1940C>A c.(1939-1941)TCA>TAA p.S647* NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 647 F5/8 type A 2.|Plastocyanin-like 4. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAAACAAACTGACAACTGCAA 0.378000 PTPRR 5801 broad.mit.edu 37 12 71050600 71050604 + Splice_Site DEL GAAAA GAAAA - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:71050599_71050603TGAAAA>T uc001swi.2 - 13 2181 c.1767_splice c.e13-1 p.S589_splice PTPRR_uc001swf.2_Splice_Site|PTPRR_uc001swg.2_Splice_Site|PTPRR_uc001swh.2_Splice_Site_p.S344_splice|PTPRR_uc009zrs.3_Splice_Site_p.S383_splice|PTPRR_uc010stq.2_Splice_Site_p.S477_splice NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 589 Substrate binding (By similarity).|Tyrosine-protein phosphatase. in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ATTCCTGCACTGAAAAGAAAAGAAA 0.361 RAD51C 5889 broad.mit.edu 37 17 56780681 56780699 + Splice_Site DEL ACACTCAAAGGTATGAGTC ACACTCAAAGGTATGAGTC - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:56780680_56780698AACACTCAAAGGTATGAGTC>A uc002iwu.3 + 4 747 c.705_splice c.e4+1 p.K235_splice RAD51C_uc010woa.1_Splice_Site_p.K235_splice|RAD51C_uc010ddc.3_Splice_Site|RAD51C_uc002iww.3_Splice_Site|RAD51C_uc010wob.1_3'UTR NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 235 DNA repair|blood coagulation mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCCTTTCAGAACACTCAAAGGTATGAGTCAGACTACTG 0.329 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 ATM 472 broad.mit.edu 37 11 108121510 108121511 + Frame_Shift_Del DEL TC TC - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr11:108121510_108121511delTC uc001pkb.1 + 10 1703_1704 c.1318_1319delTC c.(1318-1320)TCTfs p.S440fs ATM_uc009yxr.1_Frame_Shift_Del_p.S440fs NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 440 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GATGATACTATCTCAGCTTCTA 0.401 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) SSH2 85464 broad.mit.edu 37 17 27963708 27963709 + Frame_Shift_Ins INS - - G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:27963708_27963709insG uc002heo.1 - 14 1458_1459 c.1458_1459insC c.(1456-1461)ACCTCAfs p.T486fs SSH2_uc010wbh.1_Frame_Shift_Ins_p.T513fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 486_487 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 TGGTCTGCTGAGGTGGTGATAT 0.475 BAHCC1 57597 broad.mit.edu 37 17 79423467 79423467 + Frame_Shift_Del DEL G G - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:79423467delG uc002kaf.2 + 14 4714 c.4714delG c.(4714-4716)GGGfs p.G1572fs BAHCC1_uc002kae.2_Frame_Shift_Del_p.G802fs NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 1572 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GGCTACCCCCGGGGGGCGCAT 0.682 KCNN2 3781 broad.mit.edu 37 5 113822774 113822775 + Frame_Shift_Del DEL AG AG - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr5:113822773_113822774CAG>C uc003kqo.3 + 5 1738_1739 c.1281_1282CAG>C c.(1279-1284)ctcaggfs p.L427fs KCNN2_uc003kqp.3_Frame_Shift_Del_p.L79fs|KCNN2_uc010jcg.3_Non-coding_Transcript|AK097686_uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA. 427 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity p.L427F(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CCAATGTACTCAGGGAAACATG 0.356 ACVRL1 94 broad.mit.edu 37 12 52306272 52306272 + Frame_Shift_Del DEL C C - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:52306271_52306271TC>T uc001rzj.3 + 1 296 c.13_13TC>T c.(13-15)tccfs p.S5fs ACVRL1_uc021qxz.1_Frame_Shift_Del_p.S5fs|ACVRL1_uc001rzk.3_Frame_Shift_Del_p.S5fs|ACVRL1_uc010snm.2_Frame_Shift_Del_p.S19fs NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 5 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GACCTTGGGCTCCCCCAGGAA 0.587 PTPRR 5801 broad.mit.edu 37 12 71050600 71050604 + Splice_Site DEL GAAAA GAAAA - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr12:71050599_71050603TGAAAA>T uc001swi.2 - 13 2181 c.1767_splice c.e13-1 p.S589_splice PTPRR_uc001swf.2_Splice_Site|PTPRR_uc001swg.2_Splice_Site|PTPRR_uc001swh.2_Splice_Site_p.S344_splice|PTPRR_uc009zrs.3_Splice_Site_p.S383_splice|PTPRR_uc010stq.2_Splice_Site_p.S477_splice NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 589 Substrate binding (By similarity).|Tyrosine-protein phosphatase. in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ATTCCTGCACTGAAAAGAAAAGAAA 0.361 HIF1A 3091 broad.mit.edu 37 14 62207644 62207664 + In_Frame_Del DEL ACTGCTAATGCCACCACTACC ACTGCTAATGCCACCACTACC - rs75521089 TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr14:62207643_62207663TACTGCTAATGCCACCACTACC>T uc001xfq.2 + 11 2234_2254 c.1830_1850TACTGCTAATGCCACCACTACC>T c.(1828-1851)cctactgctaatgccaccactacc>ccTc p.TANATTT611del HIF1A_uc001xfr.2_In_Frame_Del_p.TANATTT611del|HIF1A_uc001xfs.2_In_Frame_Del_p.TANATTT612del|HIF1A_uc021rua.1_In_Frame_Del_p.TANATTT635del NM_001530 NP_001521 Q16665 HIF1A_HUMAN Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA. 611 ID. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TACAAGAACCTACTGCTAATGCCACCACTACCACTGCCACC 0.421 SSH2 85464 broad.mit.edu 37 17 27963709 27963710 + Frame_Shift_Ins INS - - G TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:27963708_27963709A>AG uc002heo.1 - 13 1458_1459 c.1458_1459T>CT c.(1456-1461)acctcafs p.T486fs SSH2_uc010wbh.1_Frame_Shift_Ins_p.T513fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 486 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGTCTGCTGAGGTGGTGATAT 0.475 RAD51C 5889 broad.mit.edu 37 17 56780681 56780699 + Splice_Site DEL ACACTCAAAGGTATGAGTC ACACTCAAAGGTATGAGTC - TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr17:56780680_56780698AACACTCAAAGGTATGAGTC>A uc002iwu.3 + 4 747 c.705_splice c.e4+1 p.K235_splice RAD51C_uc010woa.1_Splice_Site_p.K235_splice|RAD51C_uc010ddc.3_Splice_Site|RAD51C_uc002iww.3_Splice_Site|RAD51C_uc010wob.1_3'UTR NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 235 DNA repair|blood coagulation mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCCTTTCAGAACACTCAAAGGTATGAGTCAGACTACTG 0.329 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 VAV1 7409 broad.mit.edu 37 19 6828660 6828661 + Frame_Shift_Ins INS - - AAGCG TCGA-BR-6454-01A-11D-1800-08 TCGA-BR-6454-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx e716ee38-12c6-4cf9-aee2-1ca60ed8f8b5 02a6d96b-8aee-4512-8454-f01a984641b0 g.chr19:6828659_6828660C>CAAGCG uc002mfu.1 + 11 1216_1217 c.1119_1120C>CAAGCG c.(1117-1122)gtcaagfs p.V373fs VAV1_uc010xjh.1_Frame_Shift_Ins_p.V341fs|VAV1_uc010dva.1_Frame_Shift_Ins_p.V373fs|VAV1_uc002mfv.1_Frame_Shift_Ins_p.V318fs NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 373 DH. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TGAACGAGGTCAAGCGAGACAA 0.634