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 ZBTB40 9923 broad.mit.edu 37 1 22816908 22816908 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:22816908A>G uc001bft.2 + 3 978 c.467A>G c.(466-468)GAG>GGG p.E156G ZBTB40_uc001bfu.2_Missense_Mutation_p.E156G|ZBTB40_uc009vqi.1_Missense_Mutation_p.E156G NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 156 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GGTGCTGGAGAGCCTCATTCT 0.517000 SPTA1 6708 broad.mit.edu 37 1 158605726 158605726 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:158605726C>A uc001fst.1 - 38 5608 c.5409G>T c.(5407-5409)AAG>AAT p.K1803N NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1803 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTCTTTGAGCTTCTCCCAGT 0.527000 FCRL6 343413 broad.mit.edu 37 1 159779403 159779403 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:159779403G>A uc001fud.3 + 5 858 c.816G>A c.(814-816)GGG>GGA p.G272G FCRL6_uc001fuc.2_Silent_p.G279G|FCRL6_uc009wsz.1_Silent_p.G177G|FCRL6_uc009wta.2_Silent_p.G272G NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 272 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) AGGATGCTGGGAACTACTCCT 0.522000 ANKRD45 339416 broad.mit.edu 37 1 173628361 173628361 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:173628361G>A uc001gja.1 - 2 258 c.197C>T c.(196-198)GCC>GTC p.A66V ANKRD45_uc001gjb.3_Missense_Mutation_p.A66V NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN ankyrin repeat domain 45 82 0 AAGCTGCATGGCCTGTTCATG 0.458000 LAD1 3898 broad.mit.edu 37 1 201355485 201355485 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:201355485C>T uc001gwm.2 - 3 1239 c.1004G>A c.(1003-1005)CGC>CAC p.R335H LAD1_uc009wzu.1_Missense_Mutation_p.R357H NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 335 basement membrane structural molecule activity 0 GGGTGGGAGGCGGGAGGCCAC 0.662000 TRAF3IP3 80342 broad.mit.edu 37 1 209933490 209933490 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr1:209933490C>T uc001hho.2 + 3 396 c.106C>T c.(106-108)CGT>TGT p.R36C TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R36C|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R36C|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R36C NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 36 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CCGCCGCTGCCGTCCCAATGT 0.637000 CDH23 64072 broad.mit.edu 37 10 73569654 73569654 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr10:73569654G>T uc001jrx.3 + 59 9177 c.8800G>T c.(8800-8802)GCC>TCC p.A2934S CDH23_uc001jsg.3_Missense_Mutation_p.A694S|CDH23_uc001jsh.3_Missense_Mutation_p.A694S|CDH23_uc001jsi.3_Missense_Mutation_p.A694S|CDH23_uc001jsj.3_5'Flank|CDH23_uc010qjr.1_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2934 Cadherin 27.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGACATTGTGGCCCGAGACCT 0.617000 C10orf12 26148 broad.mit.edu 37 10 98744132 98744132 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr10:98744132C>T uc001kmv.2 + 1 3092 c.2985C>T c.(2983-2985)GCC>GCT p.A995A NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 995 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCACTCCAGCCAGTACCCGGA 0.473000 DUSP5 1847 broad.mit.edu 37 10 112257894 112257894 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr10:112257894G>A uc001kzd.2 + 1 270 c.15G>A c.(13-15)TCG>TCA p.S5S NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 5 endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) AGGTCACGTCGCTCGACGGGC 0.547000 PDZD8 118987 broad.mit.edu 37 10 119044050 119044050 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr10:119044050C>A uc001lde.1 - 5 2393 c.2194G>T c.(2194-2196)GTT>TTT p.V732F NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 732 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TTTAAACTAACATGCCCCAAA 0.438000 WEE1 7465 broad.mit.edu 37 11 9610042 9610042 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:9610042G>T uc001mhs.2 + 11 2087 c.1834G>T c.(1834-1836)GCA>TCA p.A612S WEE1_uc001mht.2_Missense_Mutation_p.A398S NM_003390 NP_003381 P30291 WEE1_HUMAN WEE1 tyrosine kinase isoform 1 612 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 5 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) TGAGGAAAGAGCACTCTTCAC 0.423000 AMPD3 272 broad.mit.edu 37 11 10515007 10515007 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:10515007C>T uc001mio.1 + 7 1386 c.1051C>T c.(1051-1053)CGG>TGG p.R351W AMPD3_uc010rbz.1_Missense_Mutation_p.R192W|AMPD3_uc001min.1_Missense_Mutation_p.R360W|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.R358W|AMPD3_uc009yfy.2_Missense_Mutation_p.R351W NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 351 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GAAGCGGGGCCGGAAGATCAC 0.597000 NELL1 4745 broad.mit.edu 37 11 20907026 20907026 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:20907026C>A uc001mqe.2 + 5 696 c.543C>A c.(541-543)AAC>AAA p.N181K NELL1_uc001mqf.2_Missense_Mutation_p.N181K|NELL1_uc009yid.2_Missense_Mutation_p.N209K|NELL1_uc010rdo.1_Missense_Mutation_p.N124K|NELL1_uc010rdp.1_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 181 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 CAGATACCAACCTTCCCCCAG 0.408000 ACCSL 390110 broad.mit.edu 37 11 44077864 44077864 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:44077864C>A uc001mxw.1 + 11 1371 c.1315C>A c.(1315-1317)CTC>ATC p.L439I ACCSL_uc009ykr.2_Missense_Mutation_p.L258I NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 439 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 GTGTCAACTGCTCCAGAACAC 0.537000 FOLH1 2346 broad.mit.edu 37 11 49208203 49208203 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:49208203C>A uc001ngy.2 - 5 893 c.632G>T c.(631-633)GGA>GTA p.G211V FOLH1_uc001ngz.2_Missense_Mutation_p.G211V|FOLH1_uc009yly.2_Missense_Mutation_p.G196V|FOLH1_uc009ylz.2_Missense_Mutation_p.G196V|FOLH1_uc009yma.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 211 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACCTTATTTCCTCTGAAAAC 0.323000 OR5T2 219464 broad.mit.edu 37 11 56000542 56000542 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:56000542G>T uc010rjc.1 - 1 120 c.120C>A c.(118-120)TTC>TTA p.F40L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 40 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCTTCATGTTGAAATCTAGAA 0.358000 YPEL4 219539 broad.mit.edu 37 11 57413862 57413862 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:57413862C>T uc001nkv.3 - 4 646 c.202G>A c.(202-204)GGG>AGG p.G68R uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA NM_145008 NP_659445 Q96NS1 YPEL4_HUMAN yippee-like 4 68 nucleolus 0 TCAGCTGGCCCGCAACCCACG 0.567000 NOP2 4839 broad.mit.edu 37 12 6670140 6670140 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:6670140G>A uc001qph.1 - 12 1472 c.1292C>T c.(1291-1293)ACC>ATC p.T431I NOP2_uc009zeq.1_Missense_Mutation_p.T147I|NOP2_uc001qpi.1_Missense_Mutation_p.T431I|NOP2_uc001qpj.1_Intron NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 435 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 AATGGTGTTGGTGACTCCCAG 0.547000 CHD4 1108 broad.mit.edu 37 12 6692406 6692406 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:6692406G>A uc001qpo.2 - 26 4182 c.4018C>T c.(4018-4020)CGT>TGT p.R1340C CHD4_uc001qpn.2_Missense_Mutation_p.R1333C|CHD4_uc001qpp.2_Missense_Mutation_p.R1337C|uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1340 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACCTGTTTACGGATTCTTTTT 0.562000 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:25380275T>G uc001rgp.1 - 3 364 c.183A>C c.(181-183)CAA>CAC p.Q61H KRAS_uc001rgq.1_Missense_Mutation_p.Q61H NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 61 GTP. Q -> R (in a colorectal cancer sample; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(140)|p.Q61L(51)|p.Q61R(44)|p.Q61K(24)|p.Q61P(11)|p.Q61E(10)|p.Q61D(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(T3M4_PANCREAS)|Q61H(HS766T_PANCREAS)|Q61H(NCIH460_LUNG)|Q61H(NCIH1155_LUNG)|Q61H(CL11_LARGE_INTESTINE) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) LRP1 4035 broad.mit.edu 37 12 57572341 57572341 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:57572341C>A uc001snd.2 + 27 5027 c.4561C>A c.(4561-4563)CAG>AAG p.Q1521K NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1521 LDL-receptor class B 12.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACCAACACCCAGCCCTTTGA 0.627000 MON2 23041 broad.mit.edu 37 12 62954269 62954269 + Splice_Site SNP A A T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:62954269A>T uc001sre.2 + 26 3801 c.3410_splice c.e26-2 p.G1137_splice MON2_uc009zqj.2_Splice_Site_p.G1137_splice|MON2_uc010ssl.1_Splice_Site_p.G1065_splice|MON2_uc010ssm.1_Splice_Site_p.G1114_splice|MON2_uc010ssn.1_Splice_Site_p.G1137_splice|MON2_uc001srf.2_Splice_Site_p.G900_splice|MON2_uc001srg.2_Silent_p.I11I NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTCCTAATATAGGAGATTTTT 0.333000 HVCN1 84329 broad.mit.edu 37 12 111099055 111099055 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:111099055C>T uc001trs.1 - 4 385 c.220G>A c.(220-222)GTT>ATT p.V74I HVCN1_uc001trq.1_Missense_Mutation_p.V74I|HVCN1_uc001trt.1_Missense_Mutation_p.V74I|HVCN1_uc010syd.1_Missense_Mutation_p.V54I NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 74 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 GCAGGGGCAACGTCAGGGGCT 0.532000 GCN1L1 10985 broad.mit.edu 37 12 120600695 120600695 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:120600695C>T uc001txo.2 - 20 2132 c.2119G>A c.(2119-2121)GAT>AAT p.D707N NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 707 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGATCTGATCCAGGTGCCTG 0.577000 TMEM132D 121256 broad.mit.edu 37 12 129559375 129559375 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr12:129559375C>T uc009zyl.1 - 9 2673 c.2345G>A c.(2344-2346)CGG>CAG p.R782Q TMEM132D_uc001uia.2_Missense_Mutation_p.R320Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 782 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) CACACTCTTCCGCTTGGATTT 0.488000 ATP8A2 51761 broad.mit.edu 37 13 26106423 26106423 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr13:26106423C>A uc001uqk.2 + 5 576 c.434C>A c.(433-435)GCA>GAA p.A145E ATP8A2_uc010tdi.1_Missense_Mutation_p.A105E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.A105E NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 105 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CGACACAAGGCAGACAATGCA 0.328000 RASA3 22821 broad.mit.edu 37 13 114780806 114780806 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr13:114780806C>T uc001vui.2 - 14 1415 c.1284G>A c.(1282-1284)GAG>GAA p.E428E RASA3_uc010tkk.1_Silent_p.E396E|RASA3_uc001vuj.2_Silent_p.E45E NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 428 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) GCCGTAGGTTCTCCTGCAACG 0.667000 PRKD1 5587 broad.mit.edu 37 14 30068863 30068863 + Missense_Mutation SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr14:30068863T>C uc001wqh.2 - 14 2247 c.2066A>G c.(2065-2067)CAG>CGG p.Q689R NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 689 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATTTCTTACCTGAGTAATTAA 0.348000 AK7 122481 broad.mit.edu 37 14 96904253 96904253 + Splice_Site SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr14:96904253G>A uc001yfn.2 + 6 734 c.690_splice c.e6+1 p.K230_splice NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTTTTTAAGGTATGGCTTTC 0.398000 TP53BP1 7158 broad.mit.edu 37 15 43712659 43712659 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr15:43712659C>A uc001zrs.2 - 21 4658 c.4510G>T c.(4510-4512)GGG>TGG p.G1504W TP53BP1_uc010udp.1_Missense_Mutation_p.G1504W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1509W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1509W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1509W NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1504 Interaction with dimethylated histone H4. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTGATTTTCCCAGAGTAAAAG 0.473000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes SH3GL3 6457 broad.mit.edu 37 15 84255786 84255786 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr15:84255786C>T uc002bjw.2 + 7 871 c.676C>T c.(676-678)CAC>TAC p.H226Y SH3GL3_uc010uot.1_Missense_Mutation_p.H226Y|SH3GL3_uc002bjx.2_Missense_Mutation_p.H157Y|SH3GL3_uc002bju.2_Missense_Mutation_p.H234Y|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 226 BAR.|Interaction with ARC (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 ATTAGACTATCACAGACAGTC 0.502000 AQP8 343 broad.mit.edu 37 16 25228603 25228603 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr16:25228603C>T uc002doc.2 + 2 179 c.97C>T c.(97-99)CGG>TGG p.R33W NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 33 Cytoplasmic (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CTGGTACGAACGGTTTGTGCA 0.572000 RLTPR 146206 broad.mit.edu 37 16 67683840 67683840 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr16:67683840G>T uc002etn.2 + 21 2171 c.2051G>T c.(2050-2052)CGC>CTC p.R684L RLTPR_uc010cel.1_Missense_Mutation_p.R677L|RLTPR_uc010vjr.1_Missense_Mutation_p.R648L NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 684 LRR 16. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CAGCGCAGCCGCCCGGAACTG 0.647000 CDH1 999 broad.mit.edu 37 16 68844181 68844181 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr16:68844181G>A uc002ewg.1 + 6 893 c.769G>A c.(769-771)GAC>AAC p.D257N CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D257N NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 257 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.D257G(1)|p.D254fs*9(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CGATCAGAATGACAACAAGCC 0.463000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer IL17C 27189 broad.mit.edu 37 16 88705717 88705717 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr16:88705717G>A uc002fla.2 + 2 384 c.335G>A c.(334-336)CGT>CAT p.R112H NM_013278 NP_037410 Q9P0M4 IL17C_HUMAN interleukin 17C precursor 112 cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response extracellular space|soluble fraction cytokine activity 0 BRCA - Breast invasive adenocarcinoma(80;0.0477) TGGAGATACCGGTGAGGACCT 0.687000 CCDC42 146849 broad.mit.edu 37 17 8646997 8646997 + Missense_Mutation SNP C C T rs145016058 TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr17:8646997C>T uc002gln.2 - 3 468 c.241G>A c.(241-243)GTT>ATT p.V81I CCDC42_uc002glo.2_Missense_Mutation_p.V81I NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 81 Potential. ovary(1) 1 GCTTCCTTAACGCCCAGTTCC 0.587000 SARM1 23098 broad.mit.edu 37 17 26686415 26686415 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr17:26686415C>T uc010wah.1 + 3 370 c.363C>T c.(361-363)AAC>AAT p.N121N POLDIP2_uc002haz.2_5'Flank|POLDIP2_uc010wag.1_5'Flank|TMEM199_uc002hba.2_Silent_p.N121N NM_152464 NP_689677 Q6SZW1 SARM1_HUMAN transmembrane protein 199 Error:Variant_position_missing_in_Q6SZW1_after_alignment innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TCACCCGCAACGTCACTTGTC 0.468000 NF1 4763 broad.mit.edu 37 17 29662040 29662040 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr17:29662040C>T uc002hgg.2 + 40 6330 c.5997C>T c.(5995-5997)AGC>AGT p.S1999S NF1_uc002hgh.2_Silent_p.S1978S|NF1_uc010cso.2_Silent_p.S187S|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1999 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATGGGGAAGCCTTGGGCAGG 0.284000 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) MAPT 4137 broad.mit.edu 37 17 44073913 44073913 + Silent SNP G G A rs115142761 by1000genomes TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr17:44073913G>A uc002ijr.3 + 10 1976 c.1656G>A c.(1654-1656)TCG>TCA p.S552S MAPT_uc010dau.2_Silent_p.S570S|MAPT_uc002ijs.3_Silent_p.S235S|MAPT_uc002ijx.3_Silent_p.S206S|MAPT_uc002ijt.3_Silent_p.S177S|MAPT_uc002iju.3_Silent_p.S177S|MAPT_uc002ijv.3_Silent_p.S184S|STH_uc002ijy.2_5'Flank NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 552 S->A: 70% decrease in microtubule-binding after in vitro phosphorylation of mutant protein.|S->E: No association with plasma membrane. cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CACCCAAGTCGCCGTCTTCCG 0.662000 GRIN2C 2905 broad.mit.edu 37 17 72846372 72846372 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr17:72846372G>A uc002jlt.1 - 6 1620 c.1464C>T c.(1462-1464)CGC>CGT p.R488R GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.R488R NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 488 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TCCATACGCCGCGCACCCGCT 0.622000 LAMA1 284217 broad.mit.edu 37 18 7049076 7049076 + Splice_Site SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr18:7049076C>T uc002knm.2 - 5 862 c.768_splice c.e5+1 p.R256_splice LAMA1_uc010wzj.1_Splice_Site NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCATACTCACGCGTCTGGTA 0.413000 C18orf26 284254 broad.mit.edu 37 18 52265293 52265293 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr18:52265293G>T uc002lfq.1 + 3 596 c.550G>T c.(550-552)GCC>TCC p.A184S C18orf26_uc002lfp.1_Missense_Mutation_p.A132S NM_173629 NP_775900 Q8N1N2 CR026_HUMAN hypothetical protein LOC284254 184 Thr-rich. integral to membrane 0 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) TGCAAGTACAGCCACTGAATC 0.463000 ZNF555 148254 broad.mit.edu 37 19 2852504 2852504 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:2852504G>A uc002lwo.2 + 4 530 c.441G>A c.(439-441)ACG>ACA p.T147T ZNF555_uc002lwn.3_Silent_p.T146T NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AATACAACACGTACGGAAAAG 0.458000 C3 718 broad.mit.edu 37 19 6707512 6707512 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:6707512C>T uc002mfm.2 - 16 2074 c.2012G>A c.(2011-2013)CGT>CAT p.R671H NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 671 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTGCACGGAACGGCGTCGGCG 0.647000 OR7D2 162998 broad.mit.edu 37 19 9296503 9296503 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:9296503G>A uc002mkz.1 + 1 234 c.46G>A c.(46-48)GGA>AGA p.G16R NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 16 Extracellular (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TATCCTTCTCGGACTCTCTGA 0.413000 ZNF560 147741 broad.mit.edu 37 19 9578204 9578204 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:9578204T>C uc002mlp.1 - 10 1629 c.1419A>G c.(1417-1419)TCA>TCG p.S473S ZNF560_uc010dwr.1_Silent_p.S367S NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CAATAACACCTGAGGATGTAC 0.388000 C19orf56 51398 broad.mit.edu 37 19 12779424 12779424 + Nonsense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:12779424C>T uc002mud.2 - 3 412 c.164G>A c.(163-165)TGG>TAG p.W55* MAN2B1_uc002mub.2_5'Flank|MAN2B1_uc010dyv.1_5'Flank|WDR83_uc002mue.3_5'UTR|WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_5'Flank NM_016145 NP_057229 Q9Y284 CS056_HUMAN hypothetical protein LOC51398 55 Helical; (Potential). integral to membrane 0 CCAAGCACACCACTTCAGCTA 0.522000 EPHX3 79852 broad.mit.edu 37 19 15342889 15342889 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:15342889G>A uc002nap.2 - 1 343 c.134C>T c.(133-135)ACG>ATG p.T45M EPHX3_uc002naq.2_Missense_Mutation_p.T45M NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 45 extracellular region hydrolase activity 0 CAGCACGTGCGTGAGCGCTAT 0.736000 ZNF85 7639 broad.mit.edu 37 19 21131567 21131567 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:21131567G>C uc002npg.3 + 4 374 c.247G>C c.(247-249)GCC>CCC p.A83P ZNF85_uc010ecn.2_Missense_Mutation_p.A18P|ZNF85_uc010eco.2_Missense_Mutation_p.A31P|ZNF85_uc002npi.2_Missense_Mutation_p.A24P NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 83 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TTCTCATTTTGCCCAAGACCT 0.299000 PPP1R13L 10848 broad.mit.edu 37 19 45888866 45888866 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:45888866G>A uc002pbn.2 - 11 2279 c.2202C>T c.(2200-2202)TGC>TGT p.C734C PPP1R13L_uc002pbm.2_Silent_p.C313C|PPP1R13L_uc002pbo.2_Silent_p.C734C NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 734 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGTAAGGGTCGCACTTCTCGA 0.682000 BAX 581 broad.mit.edu 37 19 49464847 49464847 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:49464847C>T uc002plk.2 + 6 602 c.533C>T c.(532-534)GCG>GTG p.A178V BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Missense_Mutation_p.A165V|BAX_uc002pll.2_Missense_Mutation_p.A129V|BAX_uc002plm.2_Missense_Mutation_p.A100V NM_138761 NP_620116 Q07812 BAX_HUMAN BCL2-associated X protein isoform alpha 178 Helical; (Potential). activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity lung(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) ATCTTTGTGGCGGGAGTGCTC 0.572000 KLK13 26085 broad.mit.edu 37 19 51563819 51563819 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr19:51563819G>T uc002pvn.2 - 2 153 c.110C>A c.(109-111)CCA>CAA p.P37Q KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.P37Q|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Intron|KLK13_uc002pvr.2_Missense_Mutation_p.P37Q NM_015596 NP_056411 Q9UKR3 KLK13_HUMAN kallikrein 13 precursor 37 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) GTAGCCACCTGGGAGAAACCC 0.577000 CCDC142 84865 broad.mit.edu 37 2 74709311 74709311 + Missense_Mutation SNP T T G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:74709311T>G uc002slr.2 - 1 1047 c.654A>C c.(652-654)AAA>AAC p.K218N TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Missense_Mutation_p.K218N|CCDC142_uc002slp.2_Missense_Mutation_p.K218N NM_032779 NP_116168 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 218 central_nervous_system(1) 1 GGCTCAAGGCTTTTCTCTGTA 0.682000 ASTL 431705 broad.mit.edu 37 2 96795681 96795681 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:96795681T>C uc010yui.1 - 8 756 c.756A>G c.(754-756)ACA>ACG p.T252T NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 252 proteolysis metalloendopeptidase activity|zinc ion binding 0 CCCAAAGTGGTGTGATGGTGG 0.662000 CNTNAP5 129684 broad.mit.edu 37 2 125204502 125204502 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:125204502C>A uc002tno.2 + 6 1270 c.906C>A c.(904-906)GAC>GAA p.D302E CNTNAP5_uc010flu.2_Missense_Mutation_p.D302E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 302 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ATGCCTTAGACATTGACTATG 0.552000 TTN 7273 broad.mit.edu 37 2 179605938 179605938 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:179605938G>C uc010zfh.1 - 46 11733 c.11509C>G c.(11509-11511)CTC>GTC p.L3837V TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.L3770V|TTN_uc010zfj.1_Missense_Mutation_p.L3645V|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGATATAGAGGCCACTGTCT 0.458000 NEUROD1 4760 broad.mit.edu 37 2 182542847 182542847 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:182542847G>A uc002uof.2 - 2 977 c.741C>T c.(739-741)CAC>CAT p.H247H CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 247 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGCTGTAGGCGTGCGGCGGAG 0.612000 ERBB4 2066 broad.mit.edu 37 2 212543834 212543834 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr2:212543834G>A uc002veg.1 - 13 1663 c.1565C>T c.(1564-1566)TCG>TTG p.S522L ERBB4_uc002veh.1_Missense_Mutation_p.S522L|ERBB4_uc010zji.1_Missense_Mutation_p.S522L|ERBB4_uc010zjj.1_Missense_Mutation_p.S522L|ERBB4_uc010fut.1_Missense_Mutation_p.S522L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 522 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCGGCGACACGACAGACATTG 0.502000 TSP Lung(8;0.080) TMC2 117532 broad.mit.edu 37 20 2575516 2575516 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr20:2575516C>A uc002wgf.1 + 9 994 c.979C>A c.(979-981)CAG>AAG p.Q327K TMC2_uc002wgg.1_Missense_Mutation_p.Q311K|TMC2_uc010zpw.1_Missense_Mutation_p.Q159K|TMC2_uc010zpx.1_Missense_Mutation_p.Q158K NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 327 Extracellular (Potential). integral to membrane ovary(3) 3 CTACAACAACCAGAGGACCAT 0.517000 JPH2 57158 broad.mit.edu 37 20 42744650 42744650 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr20:42744650C>A uc002xli.1 - 4 2538 c.1665G>T c.(1663-1665)TCG>TCT p.S555S NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 555 Pro-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) CCGGCTCCCGCGACGGCGCAG 0.741000 CDH4 1002 broad.mit.edu 37 20 60485655 60485655 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr20:60485655G>A uc002ybn.1 + 9 1380 c.1366G>A c.(1366-1368)GTG>ATG p.V456M CDH4_uc002ybp.1_Missense_Mutation_p.V382M NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 456 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CATGGTCACCGTGGTGAAGGT 0.577000 CCT8 10694 broad.mit.edu 37 21 30434528 30434528 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr21:30434528C>T uc002ynb.2 - 11 1232 c.1133G>A c.(1132-1134)CGA>CAA p.R378Q CCT8_uc002ymz.2_5'UTR|CCT8_uc011acp.1_Missense_Mutation_p.R359Q|CCT8_uc002yna.2_Missense_Mutation_p.R327Q|CCT8_uc002ync.2_Missense_Mutation_p.R377Q|CCT8_uc010glm.2_Missense_Mutation_p.R319Q|CCT8_uc011acq.1_Missense_Mutation_p.R305Q NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 378 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 TGTAGAGCCTCGAAGTACTAT 0.353000 FTCD 10841 broad.mit.edu 37 21 47574136 47574136 + Silent SNP C C T rs143451664 TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr21:47574136C>T uc002zif.2 - 2 209 c.165G>A c.(163-165)CCG>CCA p.P55P FTCD_uc002zig.2_Silent_p.P55P|FTCD_uc002zih.2_Silent_p.P55P|FTCD_uc010gqf.2_Silent_p.P55P|FTCD_uc010gqg.1_5'UTR NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 55 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCACGCACTCCGGCGGCCCCA 0.657000 POLR2F 5435 broad.mit.edu 37 22 38352792 38352792 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr22:38352792C>T uc003aul.2 + 2 154 c.33C>T c.(31-33)GAC>GAT p.D11D POLR2F_uc010gxi.2_Translation_Start_Site|POLR2F_uc003aum.2_RNA NM_021974 NP_068809 P61218 RPAB2_HUMAN DNA directed RNA polymerase II polypeptide F 11 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1) 1 Melanoma(58;0.045) TTGATGGCGACGACTTTGATG 0.403000 EFHB 151651 broad.mit.edu 37 3 19961394 19961394 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:19961394G>A uc003cbl.3 - 3 1123 c.927C>T c.(925-927)TAC>TAT p.Y309Y EFHB_uc003cbm.2_Silent_p.Y179Y NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 309 signal transduction proteinaceous extracellular matrix calcium ion binding 0 TTGCTCTTCCGTAAAATACTC 0.348000 NEK10 152110 broad.mit.edu 37 3 27326409 27326409 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:27326409C>T uc003cdt.1 - 22 2107 c.1833G>A c.(1831-1833)CCG>CCA p.P611P NEK10_uc003cds.1_Silent_p.P8P NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 isoform 3 611 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 GCTCTCCAAGCGGGGCTCCTT 0.328000 ULK4 54986 broad.mit.edu 37 3 41288432 41288432 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:41288432G>A uc003ckv.3 - 37 4017 c.3816C>T c.(3814-3816)GCC>GCT p.A1272A ULK4_uc003cku.3_RNA NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 1272 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) AGTGCCCAACGGCTTGGAGGA 0.537000 NKTR 4820 broad.mit.edu 37 3 42680413 42680413 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:42680413G>A uc003clo.2 + 13 3364 c.3217G>A c.(3217-3219)GTG>ATG p.V1073M NKTR_uc003clm.1_Missense_Mutation_p.V820M|NKTR_uc003clp.2_Missense_Mutation_p.V820M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.V963M|NKTR_uc003clr.1_Missense_Mutation_p.V820M|NKTR_uc003cls.2_Missense_Mutation_p.V773M NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1073 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) ACATGATACAGTGACTGTTTC 0.323000 ARL6IP5 10550 broad.mit.edu 37 3 69134225 69134225 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:69134225C>T uc003dnr.2 + 1 136 c.27C>T c.(25-27)CGC>CGT p.R9R NM_006407 NP_006398 O75915 PRAF3_HUMAN ADP-ribosylation-like factor 6 interacting 9 Cytoplasmic (By similarity). L-glutamate transport endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) CCCCACTCCGCGCCTGGGACG 0.582000 MITF 4286 broad.mit.edu 37 3 70014308 70014308 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:70014308A>G uc003dnz.2 + 10 1588 c.1472A>G c.(1471-1473)GAT>GGT p.D491G MITF_uc011bgb.1_Missense_Mutation_p.D439G|MITF_uc003doa.2_Missense_Mutation_p.D490G|MITF_uc003dob.2_Missense_Mutation_p.D475G|MITF_uc003dod.2_Missense_Mutation_p.D466G|MITF_uc003doe.2_Missense_Mutation_p.D384G|MITF_uc003dof.2_Missense_Mutation_p.D390G NM_198159 NP_937802 O75030 MITF_HUMAN microphthalmia-associated transcription factor 497 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ovary(2) 2 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) GGTGTCACTGATCCACTCCTT 0.542000 A melanoma Waardenburg syndrome type 2|Tietz syndrome FSTL1 11167 broad.mit.edu 37 3 120128474 120128474 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:120128474G>A uc003eds.2 - 6 542 c.367C>T c.(367-369)CGT>TGT p.R123C FSTL1_uc011bjh.1_Missense_Mutation_p.R88C NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 123 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) ATGATGCGACGTCGGAGCTCA 0.502000 MED12L 116931 broad.mit.edu 37 3 150834128 150834128 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:150834128G>A uc003eyp.2 + 2 141 c.103G>A c.(103-105)GAA>AAA p.E35K MED12L_uc011bnz.1_Missense_Mutation_p.E35K|MED12L_uc003eym.1_Missense_Mutation_p.E35K|MED12L_uc003eyn.2_Missense_Mutation_p.E35K|MED12L_uc003eyo.2_Missense_Mutation_p.E35K NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 35 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGAACAGGATGAACTTACTGC 0.378000 IGSF10 285313 broad.mit.edu 37 3 151165492 151165492 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:151165492C>A uc011bod.1 - 4 2277 c.2277G>T c.(2275-2277)CTG>CTT p.L759L NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 759 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTTTCTCCAACAGTGCCGCCC 0.507000 GAK 2580 broad.mit.edu 37 4 877125 877125 + Missense_Mutation SNP C C T rs145652195 byFrequency TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:877125C>T uc003gbm.3 - 13 1581 c.1382G>A c.(1381-1383)CGG>CAG p.R461Q GAK_uc003gbn.3_Missense_Mutation_p.R382Q|GAK_uc010ibk.1_Missense_Mutation_p.R355Q|GAK_uc003gbl.3_Missense_Mutation_p.R325Q NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 461 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) CCTGGAGGGCCGGTAGGTCCT 0.592000 HTT 3064 broad.mit.edu 37 4 3134614 3134614 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:3134614C>T uc011bvq.1 + 19 2620 c.2475C>T c.(2473-2475)TGC>TGT p.C825C NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 823 HEAT 4. C -> S (in Ref. 2; BAA36753). establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTGTTACTTGCAAGTTAGCTT 0.388000 AFAP1 60312 broad.mit.edu 37 4 7787971 7787971 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:7787971G>A uc003gkg.1 - 12 1753 c.1480C>T c.(1480-1482)CCC>TCC p.P494S AFAP1_uc011bwk.1_Missense_Mutation_p.P494S NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 494 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 GTCCCGCTGGGGTGGGCATAG 0.498000 BANK1 55024 broad.mit.edu 37 4 102776247 102776247 + Silent SNP T T C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:102776247T>C uc003hvy.3 + 3 799 c.525T>C c.(523-525)TCT>TCC p.S175S BANK1_uc003hvx.3_Silent_p.S160S|BANK1_uc010ill.2_Silent_p.S42S|BANK1_uc003hvz.3_Silent_p.S145S NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 175 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CAAAACATTCTGGGGAAATAA 0.373000 TRPC3 7222 broad.mit.edu 37 4 122800956 122800956 + Nonsense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:122800956C>A uc003ieg.2 - 12 2775 c.2701G>T c.(2701-2703)GAA>TAA p.E901* TRPC3_uc010inr.2_Nonsense_Mutation_p.E773*|TRPC3_uc003ief.2_Nonsense_Mutation_p.E828*|TRPC3_uc011cgl.1_Nonsense_Mutation_p.E565* NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 816 Extracellular (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 ATGGCTAATTCCTCAGTTGCT 0.363000 PCDH10 57575 broad.mit.edu 37 4 134076167 134076167 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:134076167C>A uc003iha.2 + 3 3612 c.2786C>A c.(2785-2787)GCC>GAC p.A929D NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 929 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ACCAACCGTGCCCAGTCAGCT 0.423000 LRBA 987 broad.mit.edu 37 4 151242451 151242451 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr4:151242451G>C uc010ipj.2 - 51 8029 c.7555C>G c.(7555-7557)CCT>GCT p.P2519A LRBA_uc010ipi.2_Missense_Mutation_p.P41A|LRBA_uc003ils.3_Missense_Mutation_p.P414A|LRBA_uc003ilt.3_Missense_Mutation_p.P1167A|LRBA_uc003ilu.3_Missense_Mutation_p.P2508A NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 2519 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) TGAGTAACAGGGGAGTTGGAG 0.512000 MTRR 4552 broad.mit.edu 37 5 7897003 7897003 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:7897003A>G uc003jed.2 + 13 1814 c.1784A>G c.(1783-1785)GAT>GGT p.D595G MTRR_uc003jee.3_Missense_Mutation_p.D568G|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 595 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) CAACACCCAGATGGAAATTTT 0.348000 HTR1A 3350 broad.mit.edu 37 5 63256626 63256626 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:63256626C>A uc011cqt.1 - 1 921 c.921G>T c.(919-921)CTG>CTT p.L307L NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 307 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCTCGCTGGGCAGAGGCAAGT 0.647000 MAP1B 4131 broad.mit.edu 37 5 71492953 71492953 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:71492953G>A uc003kbw.3 + 5 4012 c.3771G>A c.(3769-3771)CCG>CCA p.P1257P MAP1B_uc010iyw.1_Silent_p.P1274P|MAP1B_uc010iyx.1_Silent_p.P1131P|MAP1B_uc010iyy.1_Silent_p.P1131P NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1257 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CGAAGAGCCCGTCCCTGAGTC 0.498000 TNPO1 3842 broad.mit.edu 37 5 72157667 72157667 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:72157667G>C uc003kck.3 + 5 535 c.388G>C c.(388-390)GAA>CAA p.E130Q TNPO1_uc011csi.1_Intron|TNPO1_uc011csj.1_Missense_Mutation_p.E80Q|TNPO1_uc003kch.2_Missense_Mutation_p.E122Q|TNPO1_uc003kci.3_Missense_Mutation_p.E122Q|TNPO1_uc003kcg.3_Missense_Mutation_p.E122Q NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 130 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) CTCCAAGGGAGAATTGCAGAA 0.383000 GPR98 84059 broad.mit.edu 37 5 89938513 89938513 + Missense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:89938513G>C uc003kju.2 + 12 2397 c.2301G>C c.(2299-2301)TTG>TTC p.L767F GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 767 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAATTATTTTGGAAAATGATG 0.408000 ARSK 153642 broad.mit.edu 37 5 94918625 94918625 + Missense_Mutation SNP G G A rs149960886 TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:94918625G>A uc003kld.2 + 4 580 c.422G>A c.(421-423)CGT>CAT p.R141H ARSK_uc010jbg.2_Translation_Start_Site|ARSK_uc011cum.1_RNA NM_198150 NP_937793 Q6UWY0 ARSK_HUMAN arylsulfatase K precursor 141 extracellular region arylsulfatase activity|metal ion binding pancreas(1) 1 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) CTCAGTAATCGTGTGGAAGCG 0.373000 SLCO6A1 133482 broad.mit.edu 37 5 101813546 101813546 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:101813546C>A uc003knn.2 - 3 808 c.636G>T c.(634-636)AAG>AAT p.K212N SLCO6A1_uc003kno.2_Intron|SLCO6A1_uc003knp.2_Missense_Mutation_p.K212N|SLCO6A1_uc003knq.2_Intron NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 212 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CACTGACAACCTTTATTTCTT 0.338000 IRF1 3659 broad.mit.edu 37 5 131823676 131823676 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:131823676C>T uc003kxa.2 - 3 363 c.129G>A c.(127-129)AAG>AAA p.K43K IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.K43K|IRF1_uc010jdt.1_Silent_p.K43K NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 43 IRF tryptophan pentad repeat. blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCCAGCCATGCTTGGCAGCAT 0.537000 PCDHB7 56129 broad.mit.edu 37 5 140553614 140553614 + Missense_Mutation SNP T T G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:140553614T>G uc003lit.2 + 1 1372 c.1198T>G c.(1198-1200)TTC>GTC p.F400V NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 400 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTCGAAAACTTCTATACTCT 0.478000 FGF18 8817 broad.mit.edu 37 5 170863172 170863172 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:170863172C>T uc003mbk.2 + 3 682 c.145C>T c.(145-147)CGT>TGT p.R49C NM_003862 NP_003853 O76093 FGF18_HUMAN fibroblast growth factor 18 precursor 49 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGATGTGAGCCGTAAGCAGCT 0.627000 DBN1 1627 broad.mit.edu 37 5 176886156 176886156 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr5:176886156C>T uc003mgy.2 - 11 1241 c.1069G>A c.(1069-1071)GAT>AAT p.D357N DBN1_uc011dga.1_Missense_Mutation_p.D89N|DBN1_uc003mgx.2_Missense_Mutation_p.D359N|DBN1_uc010jkn.1_Missense_Mutation_p.D307N|DBN1_uc003mgz.1_Missense_Mutation_p.D340N NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 357 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGACCTCATCCAGGGCCCGC 0.677000 HIVEP1 3096 broad.mit.edu 37 6 12120918 12120918 + Missense_Mutation SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr6:12120918A>G uc003nac.2 + 4 1069 c.890A>G c.(889-891)CAT>CGT p.H297R HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 297 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCCAACCAACATAATCAACAG 0.418000 HIST1H2BD 3017 broad.mit.edu 37 6 26158551 26158551 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr6:26158551G>A uc003ngr.2 + 1 203 c.154G>A c.(154-156)GAC>AAC p.D52N HIST1H2BD_uc003ngs.2_Missense_Mutation_p.D52N NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 52 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 GGTCCATCCCGACACCGGCAT 0.557000 ZNF184 7738 broad.mit.edu 37 6 27420700 27420700 + Nonsense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr6:27420700G>T uc003njj.2 - 5 1449 c.638C>A c.(637-639)TCA>TAA p.S213* ZNF184_uc010jqv.2_Nonsense_Mutation_p.S213*|ZNF184_uc003nji.2_Nonsense_Mutation_p.S213* NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AACTGGGTTTGAATTCTGTTT 0.363000 PKHD1 5314 broad.mit.edu 37 6 51910975 51910975 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr6:51910975G>T uc003pah.1 - 24 2695 c.2419C>A c.(2419-2421)CAA>AAA p.Q807K PKHD1_uc003pai.2_Missense_Mutation_p.Q807K NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 807 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GCAGAAATTTGTACAGGGACA 0.418000 COL12A1 1303 broad.mit.edu 37 6 75865563 75865563 + Silent SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr6:75865563C>A uc003phs.2 - 16 3424 c.3258G>T c.(3256-3258)CGG>CGT p.R1086R COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1086 Fibronectin type-III 8. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GAGACTTAAACCGAGAAGCTG 0.398000 MEOX2 4223 broad.mit.edu 37 7 15652168 15652168 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:15652168C>T uc003stc.2 - 3 1040 c.759G>A c.(757-759)GCG>GCA p.A253A MEOX2_uc011jxw.1_Silent_p.A253A NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 253 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TTTCCCGAGCCGCAGCTCCTT 0.507000 NOD1 10392 broad.mit.edu 37 7 30492160 30492160 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:30492160C>T uc003tav.2 - 6 1396 c.873G>A c.(871-873)TCG>TCA p.S291S NOD1_uc010kvs.2_Missense_Mutation_p.R246Q NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 291 NACHT. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 GGTCCAAGTCCGAGTGCAGCT 0.662000 GLI3 2737 broad.mit.edu 37 7 42005114 42005114 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:42005114G>A uc011kbh.1 - 15 3648 c.3557C>T c.(3556-3558)CCG>CTG p.P1186L GLI3_uc011kbg.1_Missense_Mutation_p.P1127L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1186 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GCGAGTCTGCGGCACAGCGGG 0.657000 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ABCB1 5243 broad.mit.edu 37 7 87179298 87179298 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:87179298G>T uc003uiz.1 - 14 1841 c.1423C>A c.(1423-1425)CAG>AAG p.Q475K ABCB1_uc011khc.1_Missense_Mutation_p.Q411K NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 475 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ACAGGTTCCTGACTCACCACA 0.423000 SAMD9L 219285 broad.mit.edu 37 7 92763591 92763591 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:92763591C>A uc003umh.1 - 5 2910 c.1694G>T c.(1693-1695)TGG>TTG p.W565L SAMD9L_uc003umj.1_Missense_Mutation_p.W565L|SAMD9L_uc003umi.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfb.1_Missense_Mutation_p.W565L|SAMD9L_uc003umk.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfc.1_Missense_Mutation_p.W565L|SAMD9L_uc010lfd.1_Missense_Mutation_p.W565L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 565 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) ATAGAAAGCCCAGAAAGTTTC 0.353000 NRCAM 4897 broad.mit.edu 37 7 107790508 107790508 + Silent SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:107790508G>A uc003vfb.2 - 33 4233 c.3762C>T c.(3760-3762)AGC>AGT p.S1254S NRCAM_uc003vfc.2_Silent_p.S1133S|NRCAM_uc011kmk.1_Silent_p.S1156S|NRCAM_uc003vfd.2_Silent_p.S1137S|NRCAM_uc003vfe.2_Silent_p.S1125S|NRCAM_uc003vez.2_Silent_p.S37S|NRCAM_uc003vfa.2_Silent_p.S98S|NRCAM_uc011kmj.1_Silent_p.S100S NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1254 Cytoplasmic (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGTCAACTAGGCTGTCGTCAC 0.438000 CPA1 1357 broad.mit.edu 37 7 130022031 130022031 + Missense_Mutation SNP G G A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:130022031G>A uc003vpx.2 + 4 536 c.464G>A c.(463-465)CGT>CAT p.R155H CPA1_uc011kpf.1_Missense_Mutation_p.R67H|CPA1_uc003vpw.2_Intron NM_001868 NP_001859 P15085 CBPA1_HUMAN carboxypeptidase A1 precursor 155 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TATGAAGGGCGTCCCATTTAC 0.552000 DENND2A 27147 broad.mit.edu 37 7 140285465 140285465 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:140285465C>A uc010lnj.2 - 3 1314 c.1169G>T c.(1168-1170)GGT>GTT p.G390V DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G390V|DENND2A_uc003vvw.2_Missense_Mutation_p.G390V|DENND2A_uc003vvx.2_Missense_Mutation_p.G390V NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 390 ovary(3)|breast(1) 4 Melanoma(164;0.00956) CAGGCAGCGACCATGTAACTC 0.502000 MLL3 58508 broad.mit.edu 37 7 151927335 151927335 + Silent SNP A A G TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr7:151927335A>G uc003wla.2 - 17 3060 c.2841T>C c.(2839-2841)TTT>TTC p.F947F MLL3_uc003wkz.2_Silent_p.F8F NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 947 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CACTGCTAGAAAACAACACAA 0.338000 N medulloblastoma CSMD1 64478 broad.mit.edu 37 8 2823423 2823423 + Missense_Mutation SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr8:2823423C>T uc011kwk.1 - 59 9547 c.9157G>A c.(9157-9159)GAC>AAC p.D3053N CSMD1_uc011kwj.1_Missense_Mutation_p.D2382N|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3053 Extracellular (Potential).|Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AAGGTGAAGTCGGTCCCAAAC 0.463000 CSGALNACT1 55790 broad.mit.edu 37 8 19362779 19362779 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr8:19362779C>A uc011kyn.1 - 4 1631 c.567G>T c.(565-567)GAG>GAT p.E189D CSGALNACT1_uc011kyo.1_Missense_Mutation_p.E189D|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.E188D|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 189 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) TGTTCAGGGTCTCCAAGGCTG 0.537000 KCTD9 54793 broad.mit.edu 37 8 25287389 25287389 + Nonsense_Mutation SNP G G C TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr8:25287389G>C uc003xeo.2 - 12 1312 c.1154C>G c.(1153-1155)TCA>TGA p.S385* PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 385 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) GACACTTTGTGACATGTGTAG 0.423000 TRPA1 8989 broad.mit.edu 37 8 72975180 72975180 + Splice_Site SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr8:72975180C>A uc003xza.2 - 6 837 c.662_splice c.e6-1 p.G221_splice NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TGCTCTTCACCTTGAGAAGAA 0.333000 KCNK9 51305 broad.mit.edu 37 8 140631116 140631116 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr8:140631116C>T uc003yvf.1 - 2 574 c.510G>A c.(508-510)ACG>ACA p.T170T KCNK9_uc003yvg.1_Silent_p.T170T|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 170 Helical; (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CGATGCACAGCGTCCCCATGC 0.567000 MPDZ 8777 broad.mit.edu 37 9 13122132 13122132 + Missense_Mutation SNP G G T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:13122132G>T uc010mia.1 - 36 5048 c.4991C>A c.(4990-4992)GCA>GAA p.A1664E MPDZ_uc003zkx.3_5'Flank|MPDZ_uc003zky.3_Intron|MPDZ_uc010mib.2_Missense_Mutation_p.A369E|MPDZ_uc010mhx.2_Missense_Mutation_p.A486E|MPDZ_uc011lmm.1_Missense_Mutation_p.A523E|MPDZ_uc003zkz.3_Missense_Mutation_p.A357E|MPDZ_uc010mhy.2_Missense_Mutation_p.A1664E|MPDZ_uc010mhz.2_Missense_Mutation_p.A1631E|MPDZ_uc011lmn.1_Missense_Mutation_p.A1631E|MPDZ_uc003zlb.3_Missense_Mutation_p.A1664E NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1664 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TTTACATGCTGCTCCTTCTTC 0.423000 BNC2 54796 broad.mit.edu 37 9 16436468 16436468 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:16436468C>A uc003zml.2 - 6 1864 c.1724G>T c.(1723-1725)AGT>ATT p.S575I BNC2_uc011lmw.1_Missense_Mutation_p.S480I|BNC2_uc003zmm.2_Missense_Mutation_p.S533I|BNC2_uc003zmq.1_Missense_Mutation_p.S589I|BNC2_uc003zmr.1_Missense_Mutation_p.S612I|BNC2_uc003zmp.1_Missense_Mutation_p.S603I|BNC2_uc010mij.1_Missense_Mutation_p.S497I|BNC2_uc011lmv.1_Missense_Mutation_p.S401I|BNC2_uc003zmo.1_Missense_Mutation_p.S497I|BNC2_uc003zmj.2_Missense_Mutation_p.S340I|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340I|BNC2_uc003zmn.1_Missense_Mutation_p.S340I NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 575 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) AGTGAGTAAACTTCTATAAAA 0.522000 LINGO2 158038 broad.mit.edu 37 9 27950590 27950590 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:27950590C>A uc003zqu.1 - 2 274 c.80G>T c.(79-81)GGC>GTC p.G27V LINGO2_uc010mjf.1_Missense_Mutation_p.G27V|LINGO2_uc003zqv.1_Missense_Mutation_p.G27V NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 27 integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) AGCGGGGCAGCCAATGGTGGA 0.527000 C9orf135 138255 broad.mit.edu 37 9 72435945 72435945 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:72435945C>T uc004ahl.2 + 1 215 c.150C>T c.(148-150)TCC>TCT p.S50S C9orf135_uc011lrw.1_5'UTR|C9orf135_uc010moq.2_5'UTR|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Silent_p.S50S|uc004ahk.2_5'Flank NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 50 Extracellular (Potential). integral to membrane ovary(1) 1 TGGTGTATTCCTGGTGAGCGA 0.418000 OR1J2 26740 broad.mit.edu 37 9 125273810 125273810 + Missense_Mutation SNP C C A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:125273810C>A uc004bmj.1 + 4 1585 c.730C>A c.(730-732)CAT>AAT p.H244N OR1J2_uc011lyv.1_Missense_Mutation_p.H244N NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|pancreas(1)|breast(1) 5 ATGTGGCTCCCATCTCTCTGT 0.468000 KIAA1210 57481 broad.mit.edu 37 X 118220735 118220735 + Silent SNP C C T TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chrX:118220735C>T uc004era.3 - 11 4458 c.4458G>A c.(4456-4458)TCG>TCA p.S1486S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1486 ovary(4)|skin(1) 5 TATACTTCTGCGAGGGAGGGG 0.448000 ATXN7 6314 broad.mit.edu 37 3 63981543 63981551 + In_Frame_Del DEL CCAAGGAGT CCAAGGAGT - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr3:63981542_63981550CCCAAGGAGT>C uc003dlv.3 + 11 2597_2605 c.2044_2052CCCAAGGAGT>C c.(2044-2052)cccaaggag>C p.PKE682del ATXN7_uc003dlw.4_In_Frame_Del_p.PKE682del|ATXN7_uc021wzy.1_In_Frame_Del_p.PKE682del|ATXN7_uc011bfn.2_In_Frame_Del_p.PKE537del NM_000333 NP_000324 O15265 ATX7_HUMAN Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA. 682 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) ATCTTTGAGGCCCAAGGAGTCTTCTGGTA 0.502 DOCK8 81704 broad.mit.edu 37 9 420473 420474 + Frame_Shift_Ins INS - - A TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr9:420472_420473G>GA uc003zgf.2 + 30 4024_4025 c.3912_3913G>GA c.(3910-3915)atgaaafs p.M1304fs DOCK8_uc022bcu.1_Frame_Shift_Ins_p.M1236fs|DOCK8_uc010mgv.3_Frame_Shift_Ins_p.M1204fs|DOCK8_uc010mgu.3_Frame_Shift_Ins_p.M606fs|DOCK8_uc003zgk.2_Frame_Shift_Ins_p.M762fs NM_203447 NP_001180465 Q8NF50 DOCK8_HUMAN Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA. 1304 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TCTGGATCATGAAAAATGCTGA 0.470 TNKS1BP1 85456 broad.mit.edu 37 11 57087864 57087864 + Frame_Shift_Del DEL T T - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:57087863_57087863CT>C uc001njr.3 - 1 730 c.418_418AG>G c.(418-420)gggfs p.G140fs TNKS1BP1_uc001njs.3_Frame_Shift_Del_p.G140fs|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 140 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CGTACACCCCCTGGGGCTGCA 0.652 OR8B4 283162 broad.mit.edu 37 11 124294266 124294268 + In_Frame_Del DEL AGA AGA - TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr11:124294265_124294267CAGA>C uc010sak.2 - 0 501_503 c.501_503TCTG>G c.(499-504)ttctgt>ttGt p.167_168FC>L NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTTGGAATCACAGAAGGTCAGTC 0.522 SMAD4 4089 broad.mit.edu 37 18 48593406 48593407 + Frame_Shift_Ins INS - - GT rs121912580 TCGA-BR-8370-01A-11D-2340-08 TCGA-BR-8370-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c5a0b05a-1233-4b3d-9da8-a0ab6acca4bb 0d5b7d4e-a500-4ba9-8a39-ea210a62e28a g.chr18:48593405_48593406G>GGT uc010xdp.2 + 9 1694_1695 c.1156_1157G>GGT c.(1156-1158)ggtfs p.G386fs SMAD4_uc002lfb.4_Frame_Shift_Ins_p.G231fs NM_005359 NP_005350 Q13485 SMAD4_HUMAN Homo sapiens SMAD family member 4 (SMAD4), mRNA. 386 MH2. G -> D (in JP/HHT; dbSNP:rs28936393). BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.G386R(10)|p.G386C(2)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CATAGGCAAAGGTGTGCAGTTG 0.366