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 PTCHD2 57540 broad.mit.edu 37 1 11579842 11579842 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:11579842A>T uc001ash.3 + 9 2243 c.2105A>T c.(2104-2106)AAC>ATC p.N702I PTCHD2_uc001asi.1_Missense_Mutation_p.N702I NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 702 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCAGCCTCCAACACGGGCAGC 0.657 RPE65 6121 broad.mit.edu 37 1 68910260 68910260 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:68910260T>A uc001dei.1 - 5 503 c.449A>T c.(448-450)AAC>ATC p.N150I NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 150 visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 TGTAATAAAGTTGGTCTCTGT 0.398 AMY2B 280 broad.mit.edu 37 1 104122045 104122045 + Missense_Mutation SNP G G A rs150795802 TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:104122045G>A uc001duq.2 + 12 2075 c.1459G>A c.(1459-1461)GAT>AAT p.D487N AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.D487N|AMY2B_uc001dus.1_Intron NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 487 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CGTTTCTGACGATGGCAAAGC 0.338 SF3B4 10262 broad.mit.edu 37 1 149898269 149898269 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:149898269T>C uc001etj.1 - 3 756 c.705A>G c.(703-705)CCA>CCG p.P235P SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Silent_p.P235P|SF3B4_uc009wll.1_Silent_p.P235P NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 235 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) AAGCTTTACCTGGTGGAGGAA 0.517 FCRL2 79368 broad.mit.edu 37 1 157738349 157738349 + Silent SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:157738349G>T uc001fre.2 - 5 797 c.738C>A c.(736-738)ACC>ACA p.T246T FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.T246T|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 246 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TTCCCATACTGGTTCCTGTGG 0.522 CD5L 922 broad.mit.edu 37 1 157803288 157803288 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:157803288T>C uc001frk.3 - 5 876 c.733A>G c.(733-735)AGA>GGA p.R245G NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 245 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCTACTAGTCTCAAGTCAAAG 0.478 SLC9A11 284525 broad.mit.edu 37 1 173506170 173506170 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:173506170A>G uc001giz.2 - 14 1989 c.1566T>C c.(1564-1566)TTT>TTC p.F522F SLC9A11_uc009wwe.2_Silent_p.F80F|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 522 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GCTGTTTTTCAAAGCTACTCT 0.333 STX6 10228 broad.mit.edu 37 1 180957480 180957480 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:180957480A>C uc010pnq.1 - 6 728 c.491T>G c.(490-492)TTG>TGG p.L164W STX6_uc001goo.2_Missense_Mutation_p.L164W|STX6_uc010pnr.1_Missense_Mutation_p.L63W NM_005819 NP_005810 O43752 STX6_HUMAN syntaxin 6 164 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity ovary(1) 1 TTCCACGATCAACTGGTGCCA 0.527 NFASC 23114 broad.mit.edu 37 1 204944442 204944442 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:204944442A>G uc001hbj.2 + 15 1930 c.1602A>G c.(1600-1602)AGA>AGG p.R534R NFASC_uc001hbh.2_Silent_p.R534R|NFASC_uc010pqz.1_Silent_p.R528R|NFASC_uc010pra.1_Silent_p.R545R|NFASC_uc001hbi.2_Silent_p.R545R|NFASC_uc010prb.1_Silent_p.R545R|NFASC_uc010prc.1_Silent_p.R101R|NFASC_uc001hbk.1_Silent_p.R355R NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 534 Extracellular (Potential).|Ig-like C2-type 6. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGGTGGCCAGAAGGGGCACCA 0.622 OREG0014142 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TGFB2 7042 broad.mit.edu 37 1 218520217 218520217 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:218520217T>G uc001hlm.2 + 1 827 c.174T>G c.(172-174)CCT>CCG p.P58P TGFB2_uc001hll.2_Silent_p.P58P|TGFB2_uc001hln.2_Silent_p.P58P|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 58 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) AAGACTATCCTGAGCCCGAGG 0.627 AHCTF1 25909 broad.mit.edu 37 1 247006019 247006019 + Silent SNP C C T rs143813373 byFrequency TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:247006019C>T uc001ibu.1 - 34 6592 c.6585G>A c.(6583-6585)ACG>ACA p.T2195T AHCTF1_uc001ibv.1_Silent_p.T2204T|AHCTF1_uc009xgs.1_Intron NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 2195 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGTTTTTGACGTCCTGATTC 0.363 VN1R5 317705 broad.mit.edu 37 1 247419884 247419884 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:247419884T>C uc010pyu.1 + 2 511 c.511T>C c.(511-513)TCA>CCA p.S171P NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 171 Helical; Name=5; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CTTCCTTTTCTCATGGGTCCT 0.498 NLRP3 114548 broad.mit.edu 37 1 247588601 247588601 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:247588601A>C uc001icr.2 + 5 1994 c.1856A>C c.(1855-1857)AAA>ACA p.K619T NLRP3_uc001ics.2_Missense_Mutation_p.K619T|NLRP3_uc001icu.2_Missense_Mutation_p.K619T|NLRP3_uc001icw.2_Missense_Mutation_p.K619T|NLRP3_uc001icv.2_Missense_Mutation_p.K619T|NLRP3_uc010pyw.1_Missense_Mutation_p.K617T|NLRP3_uc001ict.1_Missense_Mutation_p.K617T NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 619 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCCAAAGCTAAAAAGCTGCAG 0.483 OR2G2 81470 broad.mit.edu 37 1 247752318 247752318 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr1:247752318C>T uc010pyy.1 + 1 657 c.657C>T c.(655-657)GTC>GTT p.V219V NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCATCCTGGTCTCCTCTGGCT 0.478 NEBL 10529 broad.mit.edu 37 10 21101765 21101765 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:21101765G>T uc001iqi.2 - 24 2848 c.2451C>A c.(2449-2451)AGC>AGA p.S817R NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Missense_Mutation_p.S154R NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 817 Nebulin 23. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 AGGCAGCATCGCTGACCACCT 0.517 PTF1A 256297 broad.mit.edu 37 10 23482704 23482704 + Nonsense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:23482704G>T uc001irp.2 + 2 856 c.856G>T c.(856-858)GAA>TAA p.E286* NM_178161 NP_835455 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 286 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex pancreas(1)|skin(1) 2 ATGGACTGATGAAAAACAACT 0.498 GPR158 57512 broad.mit.edu 37 10 25887234 25887234 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:25887234C>T uc001isj.2 + 11 2739 c.2679C>T c.(2677-2679)CAC>CAT p.H893H GPR158_uc001isk.2_Silent_p.H268H NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 893 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AAACTGGGCACCCACGAACAT 0.517 ANKRD30A 91074 broad.mit.edu 37 10 37451723 37451723 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:37451723A>G uc001iza.1 + 17 1880 c.1781A>G c.(1780-1782)AAG>AGG p.K594R NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 650 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GAAATGCAAAAGTCTGTCCCA 0.308 ATRNL1 26033 broad.mit.edu 37 10 116930868 116930868 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:116930868A>C uc001lcg.2 + 8 1552 c.1166A>C c.(1165-1167)AAC>ACC p.N389T ATRNL1_uc001lce.2_RNA|ATRNL1_uc001lcf.2_Missense_Mutation_p.N389T|ATRNL1_uc009xyq.2_Missense_Mutation_p.T360P NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 389 Kelch 2.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGGGTTTTTAACATACATAGT 0.343 PNLIP 5406 broad.mit.edu 37 10 118321115 118321115 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:118321115C>T uc001lcm.2 + 12 1344 c.1301C>T c.(1300-1302)TCC>TTC p.S434F NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 434 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GTGGGAGCATCCAAGATTATA 0.363 HSPA12A 259217 broad.mit.edu 37 10 118435928 118435928 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:118435928T>C uc001lct.2 - 11 1477 c.1372A>G c.(1372-1374)AGC>GGC p.S458G HSPA12A_uc001lcu.2_Missense_Mutation_p.S375G NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 458 ATP binding ovary(1) 1 all cancers(201;0.0158) TCAATGATGCTATCGATGGTC 0.567 RGS10 6001 broad.mit.edu 37 10 121285571 121285571 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:121285571A>C uc001lee.2 - 2 204 c.204T>G c.(202-204)GAT>GAG p.D68E RGS10_uc001lef.2_Missense_Mutation_p.D62E|RGS10_uc001leg.2_Missense_Mutation_p.D76E NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 68 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) TTTTCTTAAAATCTTCACATG 0.323 INPP5A 3632 broad.mit.edu 37 10 134563341 134563341 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr10:134563341G>A uc001llp.2 + 11 1143 c.895G>A c.(895-897)GGC>AGC p.G299S INPP5A_uc001llo.1_Missense_Mutation_p.G299S|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 299 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) AGACAACAACGGCACCGCGGT 0.562 KCNQ1 3784 broad.mit.edu 37 11 2604770 2604770 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr11:2604770C>T uc001lwn.2 + 7 1135 c.1027C>T c.(1027-1029)CCA>TCA p.P343S KCNQ1_uc009ydp.1_Missense_Mutation_p.P127S|KCNQ1_uc001lwo.2_Missense_Mutation_p.P216S NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 343 Helical; Name=Segment S6; (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) CTTTGCGCTCCCAGCGGTAGG 0.632 OR52I1 390037 broad.mit.edu 37 11 4615839 4615839 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr11:4615839T>G uc010qyi.1 + 1 571 c.571T>G c.(571-573)TTA>GTA p.L191V NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TTTGGCCAGGTTAGCATGTGC 0.493 OR5D14 219436 broad.mit.edu 37 11 55563231 55563231 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr11:55563231A>G uc010rim.1 + 1 200 c.200A>G c.(199-201)CAC>CGC p.H67R NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TTCCTTAGTCACCTCTCTTTT 0.383 RARRES3 5920 broad.mit.edu 37 11 63312231 63312231 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr11:63312231C>T uc001nxf.3 + 3 325 c.257C>T c.(256-258)CCA>CTA p.P86L NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 86 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 GAGTACCAACCACGGCCCGTG 0.537 FOXM1 2305 broad.mit.edu 37 12 2968120 2968120 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:2968120A>G uc001qlf.2 - 9 2241 c.1976T>C c.(1975-1977)CTC>CCC p.L659P uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.L697P|FOXM1_uc001qlg.2_Missense_Mutation_p.L644P|FOXM1_uc009zea.2_Missense_Mutation_p.L644P|FOXM1_uc009zeb.2_Missense_Mutation_p.L643P NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 659 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) AGTGGTGCTGAGATCCATCAG 0.592 VWF 7450 broad.mit.edu 37 12 6078421 6078421 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:6078421T>G uc001qnn.1 - 45 7935 c.7685A>C c.(7684-7686)CAG>CCG p.Q2562P VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2562 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) ACAGCTCAGCTGAAAGCCCGA 0.587 PDE3A 5139 broad.mit.edu 37 12 20523121 20523121 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:20523121C>T uc001reh.1 + 1 925 c.903C>T c.(901-903)TCC>TCT p.S301S NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 301 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCGAGATGTCCGGCTGCAGCA 0.587 GYS2 2998 broad.mit.edu 37 12 21757519 21757519 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:21757519C>T uc001rfb.2 - 1 263 c.8G>A c.(7-9)CGA>CAA p.R3Q NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 3 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 GGATCGGCCTCGAAGCATTCT 0.473 LDHB 3945 broad.mit.edu 37 12 21807527 21807527 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:21807527C>T uc001rfc.2 - 1 97 c.79G>A c.(79-81)GTG>ATG p.V27M LDHB_uc001rfd.2_Missense_Mutation_p.V27M|LDHB_uc001rfe.2_Missense_Mutation_p.V27M NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 27 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) CCAACACCCACTACAGTGATC 0.423 CASC1 55259 broad.mit.edu 37 12 25264751 25264751 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:25264751G>A uc001rgl.2 - 13 1798 c.1716C>T c.(1714-1716)ATC>ATT p.I572I CASC1_uc001rgk.2_Silent_p.I578I|CASC1_uc001rgm.3_Silent_p.I636I|CASC1_uc001rgj.2_Silent_p.I532I|CASC1_uc010sje.1_Silent_p.I513I|CASC1_uc010sjf.1_Silent_p.I460I NM_001082973 NP_001076442 Q6TDU7 CASC1_HUMAN cancer susceptibility candidate 1 isoform b 572 ovary(2) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11) OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13) TAGTAGGAAAGATATTCAGTC 0.318 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T G rs17851045 TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 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 0.423 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) KRT85 3891 broad.mit.edu 37 12 52754645 52754645 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:52754645A>G uc001sag.2 - 9 1636 c.1516T>C c.(1516-1518)TTT>CTT p.F506L NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 506 Tail. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TACTAGGCAAAGCGGACCGAC 0.607 ITGB7 3695 broad.mit.edu 37 12 53587072 53587072 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:53587072C>T uc009zmv.2 - 11 1649 c.1578G>A c.(1576-1578)GGG>GGA p.G526G ITGB7_uc001scc.2_Silent_p.G526G|ITGB7_uc010snz.1_Intron NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor 526 Cysteine-rich tandem repeats.|Extracellular (Potential).|I. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 GAGCCCGGCACCCAGATTCCA 0.632 TMCC3 57458 broad.mit.edu 37 12 94976127 94976127 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:94976127C>T uc001tdj.2 - 2 384 c.266G>A c.(265-267)CGC>CAC p.R89H TMCC3_uc001tdi.2_Missense_Mutation_p.R58H NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 89 integral to membrane ovary(1)|skin(1) 2 ATTCCCATCGCGCGATGTTTG 0.448 VPS29 51699 broad.mit.edu 37 12 110933945 110933945 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:110933945T>C uc001tqy.2 - 2 127 c.67A>G c.(67-69)AAA>GAA p.K23E VPS29_uc001tqw.2_RNA|VPS29_uc001tqx.2_Missense_Mutation_p.K27E|VPS29_uc001tqz.2_RNA NM_016226 NP_057310 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 isoform 1 23 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity 0 AGGAGTTTTTTGAATTTAGCT 0.423 TMEM132B 114795 broad.mit.edu 37 12 126138782 126138782 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:126138782G>A uc001uhe.1 + 9 2771 c.2763G>A c.(2761-2763)GCG>GCA p.A921A TMEM132B_uc001uhf.1_Silent_p.A433A NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 921 Helical; (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ACTGCGTGGCGTTTGCCTGGA 0.522 MMP17 4326 broad.mit.edu 37 12 132326256 132326256 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr12:132326256T>C uc001ujc.1 + 5 893 c.794T>C c.(793-795)ATC>ACC p.I265T MMP17_uc001ujd.1_Missense_Mutation_p.I181T NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 265 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GCACACTCCATCATGCGGCCG 0.642 SGCG 6445 broad.mit.edu 37 13 23824817 23824817 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr13:23824817C>T uc001uom.2 + 4 501 c.346C>T c.(346-348)CGC>TGC p.R116C SGCG_uc009zzv.2_Missense_Mutation_p.R116C|SGCG_uc009zzw.2_Missense_Mutation_p.R116C NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 116 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TGTAAATGCGCGCAACTCAGA 0.403 MLNR 2862 broad.mit.edu 37 13 49795336 49795336 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr13:49795336G>A uc010tgj.1 + 1 863 c.863G>A c.(862-864)GGG>GAG p.G288E NM_001507 NP_001498 O43193 MTLR_HUMAN motilin receptor 288 Cytoplasmic (Potential). digestion integral to plasma membrane growth hormone-releasing hormone receptor activity 0 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) GCCGCCTCGGGGCGGGAGAGA 0.721 OR11H12 440153 broad.mit.edu 37 14 19378049 19378049 + Silent SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr14:19378049T>A uc010tkp.1 + 1 456 c.456T>A c.(454-456)ACT>ACA p.T152T NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, 152 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATCATGACTGGGCATCTCT 0.478 PYGL 5836 broad.mit.edu 37 14 51383390 51383390 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr14:51383390A>G uc001wyu.2 - 9 1189 c.1062T>C c.(1060-1062)TTT>TTC p.F354F PYGL_uc010tqq.1_Silent_p.F320F|PYGL_uc001wyv.2_Silent_p.F28F|PYGL_uc010anz.1_Silent_p.F157F NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 354 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) CAATATCCACAAAAATCCTCA 0.473 MYO1E 4643 broad.mit.edu 37 15 59548485 59548485 + Silent SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:59548485G>T uc002aga.2 - 4 702 c.330C>A c.(328-330)ATC>ATA p.I110I NM_004998 NP_004989 Q12965 MYO1E_HUMAN myosin IE 110 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity central_nervous_system(3) 3 all cancers(107;0.207) CTTCATACCTGATAATGACGC 0.418 RBPMS2 348093 broad.mit.edu 37 15 65041332 65041332 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:65041332G>A uc002anq.2 - 5 537 c.285C>T c.(283-285)CCC>CCT p.P95P NM_194272 NP_919248 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 95 RRM. nucleic acid binding|nucleotide binding 0 GTGGATTTTCGGGATCAAAGC 0.512 NEO1 4756 broad.mit.edu 37 15 73580780 73580780 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:73580780A>G uc002avm.3 + 24 3679 c.3537A>G c.(3535-3537)CCA>CCG p.P1179P NEO1_uc010ukx.1_Silent_p.P1168P|NEO1_uc010uky.1_Silent_p.P1179P|NEO1_uc010ukz.1_Silent_p.P592P|NEO1_uc002avn.3_Silent_p.P817P NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 1179 Cytoplasmic (Potential). axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 ATAAGTCTCCAGACCCAAACC 0.448 ARNT2 9915 broad.mit.edu 37 15 80743280 80743280 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:80743280G>A uc002bfr.2 + 2 257 c.91G>A c.(91-93)GGA>AGA p.G31R ARNT2_uc002bfq.2_Missense_Mutation_p.G31R|ARNT2_uc010unm.1_Missense_Mutation_p.G20R|ARNT2_uc002bfs.2_Missense_Mutation_p.G20R NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 31 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) GGCGGCCACCGGACAGGTGAG 0.552 ARNT2 9915 broad.mit.edu 37 15 80867400 80867400 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:80867400T>C uc002bfr.2 + 14 1628 c.1462T>C c.(1462-1464)TCC>CCC p.S488P ARNT2_uc010unm.1_Missense_Mutation_p.S477P|ARNT2_uc002bfs.2_Missense_Mutation_p.S477P NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 488 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TGCAATCTTCTCCCAGGAAAG 0.468 ZNF592 9640 broad.mit.edu 37 15 85328011 85328011 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr15:85328011A>G uc002bld.2 + 4 2441 c.2105A>G c.(2104-2106)GAC>GGC p.D702G ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 702 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCTACCCAGACCCTGTGAGG 0.582 WDR24 84219 broad.mit.edu 37 16 737013 737013 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:737013C>T uc002ciz.1 - 3 1823 c.1063G>A c.(1063-1065)GCC>ACC p.A355T JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002cix.1_5'Flank|JMJD8_uc002ciy.1_5'Flank NM_032259 NP_115635 Q96S15 WDR24_HUMAN WD repeat domain 24 485 ovary(1)|central_nervous_system(1) 2 Hepatocellular(780;0.0218) CTCTCCTTGGCGGCGAAGGCC 0.701 IGFALS 3483 broad.mit.edu 37 16 1841347 1841347 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:1841347A>C uc002cmy.2 - 2 1153 c.1072T>G c.(1072-1074)TTC>GTC p.F358V IGFALS_uc010uvn.1_Missense_Mutation_p.F396V|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 358 LRR 12. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 AGGCCGAGGAAAGCGCCCGCC 0.652 ZNF598 90850 broad.mit.edu 37 16 2052383 2052383 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:2052383A>C uc002cof.1 - 7 734 c.719T>G c.(718-720)TTT>TGT p.F240C ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 240 intracellular zinc ion binding lung(1)|breast(1) 2 CTCACACAGAAAGTGCTTCTC 0.657 SEPT12 124404 broad.mit.edu 37 16 4835891 4835891 + Splice_Site SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:4835891T>G uc002cxq.2 - 4 434 c.293_splice c.e4-1 p.V98_splice SEPT12_uc002cxr.2_Splice_Site_p.V98_splice|SEPT12_uc010bty.2_Splice_Site|uc002cxt.2_5'Flank NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCTCTATGACTGTGGAGGGAG 0.458 SNX29 92017 broad.mit.edu 37 16 12571649 12571649 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:12571649A>C uc002dby.3 + 12 1012 c.956A>C c.(955-957)AAG>ACG p.K319T NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 319 PX. cell communication phosphatidylinositol binding ovary(1) 1 TTGCACCACAAGTTACAAAAC 0.453 MYH11 4629 broad.mit.edu 37 16 15818135 15818135 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:15818135A>C uc002ddy.2 - 31 4355 c.4248T>G c.(4246-4248)GAT>GAG p.D1416E MYH11_uc002ddv.2_Missense_Mutation_p.D1423E|MYH11_uc002ddw.2_Missense_Mutation_p.D1416E|MYH11_uc002ddx.2_Missense_Mutation_p.D1423E|MYH11_uc010bvg.2_Missense_Mutation_p.D1248E|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.D122E|NDE1_uc002ddz.1_RNA NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1416 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TTTCCAGTTTATCATAAGCGG 0.537 T CBFB AML ABCC12 94160 broad.mit.edu 37 16 48173097 48173097 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:48173097A>G uc002efc.1 - 5 1154 c.808T>C c.(808-810)TAT>CAT p.Y270H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.Y270H|ABCC12_uc010vgj.1_Splice_Site NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 270 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) AATATGACATACACTGATATC 0.488 NUP93 9688 broad.mit.edu 37 16 56857749 56857749 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:56857749T>G uc002eka.2 + 8 906 c.785T>G c.(784-786)CTT>CGT p.L262R NUP93_uc002ekb.2_Missense_Mutation_p.L139R|NUP93_uc010vhi.1_Missense_Mutation_p.L139R NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 262 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 TTGGCGTACCTTGAGCAGAGG 0.542 NFATC3 4775 broad.mit.edu 37 16 68224974 68224974 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:68224974C>T uc002evo.1 + 9 2612 c.2402C>T c.(2401-2403)TCC>TTC p.S801F NFATC3_uc010vkl.1_Missense_Mutation_p.S322F|NFATC3_uc010vkm.1_Missense_Mutation_p.S322F|NFATC3_uc010vkn.1_Missense_Mutation_p.S322F|NFATC3_uc010vko.1_Missense_Mutation_p.S322F|NFATC3_uc010vkp.1_Missense_Mutation_p.S322F|NFATC3_uc010vkq.1_Missense_Mutation_p.S322F|NFATC3_uc002evl.2_Missense_Mutation_p.S322F|NFATC3_uc002evk.2_Missense_Mutation_p.S801F|NFATC3_uc002evm.1_Missense_Mutation_p.S801F|NFATC3_uc002evn.1_Missense_Mutation_p.S801F|NFATC3_uc010vkr.1_Missense_Mutation_p.S322F|NFATC3_uc010vks.1_Missense_Mutation_p.S322F|NFATC3_uc010vkt.1_Missense_Mutation_p.S322F|NFATC3_uc010vku.1_Missense_Mutation_p.S322F|NFATC3_uc010vkv.1_Missense_Mutation_p.S322F|NFATC3_uc010vkw.1_Missense_Mutation_p.S322F|NFATC3_uc010vkx.1_Missense_Mutation_p.S322F|NFATC3_uc010vky.1_Missense_Mutation_p.S322F|NFATC3_uc010vkz.1_Missense_Mutation_p.S322F|NFATC3_uc010vla.1_Missense_Mutation_p.S322F|NFATC3_uc010vlb.1_Missense_Mutation_p.S322F|NFATC3_uc010vlc.1_Missense_Mutation_p.S322F NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 801 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) GTGGGGTCTTCCTATCAGCCT 0.413 ZFP1 162239 broad.mit.edu 37 16 75203884 75203884 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:75203884A>G uc002fdo.2 + 4 1040 c.876A>G c.(874-876)GGA>GGG p.G292G ZFP1_uc002fdp.2_Silent_p.G237G|ZFP1_uc010cgt.2_Silent_p.G259G|ZFP1_uc010cgs.2_Silent_p.G237G|ZFP1_uc002fdq.2_Silent_p.G292G NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN zinc finger protein 1 homolog 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TTCATACAGGAGAGCGACCCT 0.428 LRRC50 123872 broad.mit.edu 37 16 84189352 84189352 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr16:84189352T>G uc002fhl.3 + 5 920 c.739T>G c.(739-741)TTG>GTG p.L247V LRRC50_uc010chi.1_RNA NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 247 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 CATGCCCGATTTGGTAaaaaa 0.348 Kartagener_syndrome METT10D 79066 broad.mit.edu 37 17 2323552 2323552 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:2323552C>T uc002fut.2 - 10 1549 c.1401G>A c.(1399-1401)AGG>AGA p.R467R METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Silent_p.R249R NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 467 methyltransferase activity 0 TTTCCTCACTCCTTTCATCCT 0.627 GP1BA 2811 broad.mit.edu 37 17 4835939 4835939 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:4835939T>G uc010vsq.1 + 2 115 c.40T>G c.(40-42)TTA>GTA p.L14V uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 14 0 GCCAAGCCCCTTACACCCCCA 0.607 EIF4A1 1973 broad.mit.edu 37 17 7476162 7476162 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:7476162G>A uc002gho.1 + 9 1328 c.3G>A c.(1-3)ATG>ATA p.M1I EIF4A1_uc002ghr.1_Missense_Mutation_p.M1I|EIF4A1_uc002ghq.1_Missense_Mutation_p.M1I|EIF4A1_uc002ghp.1_Missense_Mutation_p.M1I|SNORA48_uc002ghs.1_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN eukaryotic translation initiation factor 4A 1 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity ovary(1) 1 TAAGGATCATGTCTGCGAGCC 0.622 MYH8 4626 broad.mit.edu 37 17 10322320 10322320 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:10322320A>C uc002gmm.2 - 4 333 c.238T>G c.(238-240)TTC>GTC p.F80V uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 80 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTCATAGGGAAGACTTGGTCT 0.368 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling SKAP1 8631 broad.mit.edu 37 17 46262125 46262125 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:46262125G>A uc002ini.1 - 7 639 c.527C>T c.(526-528)TCC>TTC p.S176F SKAP1_uc002inj.1_Missense_Mutation_p.S176F|SKAP1_uc010dbd.1_Missense_Mutation_p.S82F|SKAP1_uc010dbe.1_Missense_Mutation_p.S176F NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 176 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 TTCAAAGCAGGATTCTTTCTT 0.522 FTSJ3 117246 broad.mit.edu 37 17 61897524 61897524 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:61897524T>G uc002jbz.2 - 19 2344 c.2266A>C c.(2266-2268)AGG>CGG p.R756R FTSJ3_uc002jca.2_Silent_p.R756R NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 756 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 TGCTCCAGCCTCTTCAGCATC 0.572 SLC16A6 9120 broad.mit.edu 37 17 66267274 66267274 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:66267274C>T uc002jgz.1 - 5 1215 c.1027G>A c.(1027-1029)GGA>AGA p.G343R ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.G343R NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 343 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCGATCCTTCCGAAAACTTCT 0.468 COLEC12 81035 broad.mit.edu 37 18 480739 480739 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr18:480739T>A uc002kkm.2 - 2 241 c.26A>T c.(25-27)GAG>GTG p.E9V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 9 Cytoplasmic (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TTGCACCTCCTCCTCCTCTGC 0.542 HRH4 59340 broad.mit.edu 37 18 22040828 22040828 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr18:22040828C>T uc002kvi.2 + 1 236 c.136C>T c.(136-138)CTT>TTT p.L46F HRH4_uc010xbd.1_Missense_Mutation_p.L46F|HRH4_uc010dlx.2_Missense_Mutation_p.L46F NM_021624 NP_067637 Q9H3N8 HRH4_HUMAN histamine H4 receptor isoform 1 46 Cytoplasmic (Potential). integral to membrane|plasma membrane histamine receptor activity ovary(2) 2 all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) Clozapine(DB00363) GGACAAAAACCTTAGACATCG 0.333 SMAD4 4089 broad.mit.edu 37 18 48604747 48604748 + Missense_Mutation DNP CT CT TA TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr18:48604747_48604748CT>TA uc010xdp.1 + 12 2107_2108 c.1569_1570CT>TA c.(1567-1572)TGCTGG>TGTAGG p.W524R SMAD4_uc002lfb.3_Missense_Mutation_p.W369R NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 524 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.C523W(2)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) AAACACCTTGCTGGATTGAAAT 0.48 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia TLE2 7089 broad.mit.edu 37 19 3005565 3005565 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:3005565G>A uc002lww.2 - 17 2029 c.1766C>T c.(1765-1767)ACG>ATG p.T589M TLE2_uc010xhb.1_Missense_Mutation_p.T256M|TLE2_uc010dth.2_Missense_Mutation_p.T590M|TLE2_uc010xhc.1_Missense_Mutation_p.T467M|TLE2_uc010dti.2_Missense_Mutation_p.T603M NM_003260 NP_003251 Q04725 TLE2_HUMAN transducin-like enhancer protein 2 isoform 1 589 WD 4. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 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) GGCGCCGTCCGTGTGGCCCTG 0.662 TBXA2R 6915 broad.mit.edu 37 19 3600235 3600235 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:3600235C>T uc002lyg.1 - 2 612 c.398G>A c.(397-399)GGT>GAT p.G133D TBXA2R_uc002lye.1_Intron NM_001060 NP_001051 P21731 TA2R_HUMAN thromboxane A2 receptor isoform alpha 133 Cytoplasmic (Potential). platelet activation integral to plasma membrane guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) Ridogrel(DB01207) CCGGGTGATACCCAGGTAGCG 0.736 CCDC94 55702 broad.mit.edu 37 19 4249309 4249309 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:4249309G>A uc002lzv.3 + 2 142 c.109G>A c.(109-111)GCC>ACC p.A37T NM_018074 NP_060544 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 37 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) GCGGCTGATGGCCCCCTTCAA 0.602 ELAVL1 1994 broad.mit.edu 37 19 8056617 8056617 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:8056617G>A uc002mjb.2 - 2 250 c.83C>T c.(82-84)CCT>CTT p.P28L NM_001419 NP_001410 Q15717 ELAV1_HUMAN ELAV-like 1 28 RRM 1. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding 0 CATGTTCTGAGGGAGGTAGTT 0.428 ZNF441 126068 broad.mit.edu 37 19 11891663 11891663 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:11891663G>A uc010dyj.2 + 4 1218 c.1024G>A c.(1024-1026)GGG>AGG p.G342R ZNF441_uc002msn.3_Missense_Mutation_p.G298R NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 342 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAAGTATTGTGGGAAAGCATT 0.403 RTBDN 83546 broad.mit.edu 37 19 12940627 12940627 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:12940627G>T uc002mvi.2 - 2 297 c.167C>A c.(166-168)GCA>GAA p.A56E RTBDN_uc002mvh.1_Missense_Mutation_p.A88E|RTBDN_uc002mvj.2_Missense_Mutation_p.A88E NM_001080997 NP_001074466 Q9BSG5 RTBDN_HUMAN retbindin isoform 1 56 extracellular region 0 GTGCTCACCTGCCAGGTGCAG 0.587 FAM129C 199786 broad.mit.edu 37 19 17664149 17664149 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:17664149T>C uc010xpr.1 + 16 2009 c.1871T>C c.(1870-1872)TTC>TCC p.F624S GLT25D1_uc002nhc.1_5'Flank NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 624 0 GTGTCAAGTTTCCTGGCTGGG 0.463 ZNF486 90649 broad.mit.edu 37 19 20295165 20295165 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:20295165G>A uc002nou.2 + 2 88 c.31G>A c.(31-33)GAA>AAA p.E11K NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTTTTTCAGGAATCATTGCA 0.393 ZNF208 7757 broad.mit.edu 37 19 22157177 22157177 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:22157177T>C uc002nqp.2 - 4 808 c.659A>G c.(658-660)AAG>AGG p.K220R ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ATGAGCACTCTTATAATAAGT 0.358 ZNF676 163223 broad.mit.edu 37 19 22362948 22362948 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:22362948T>G uc002nqs.1 - 3 1889 c.1571A>C c.(1570-1572)AAG>ACG p.K524T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 524 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) ATGAATTATCTTATGTTCAGT 0.398 CD22 933 broad.mit.edu 37 19 35832422 35832422 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:35832422T>A uc010edt.2 + 8 1761 c.1684T>A c.(1684-1686)TCC>ACC p.S562T CD22_uc010xst.1_Missense_Mutation_p.S390T|CD22_uc010edu.2_Missense_Mutation_p.S474T|CD22_uc010edv.2_Missense_Mutation_p.S562T|CD22_uc002nzb.3_Missense_Mutation_p.S385T|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 562 Extracellular (Potential).|Ig-like C2-type 5. cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TGACTCCATCTCCCCAGAAGA 0.522 APLP1 333 broad.mit.edu 37 19 36369820 36369820 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:36369820C>A uc002oce.2 + 15 1814 c.1676C>A c.(1675-1677)CCT>CAT p.P559H APLP1_uc010xsz.1_Missense_Mutation_p.P520H|APLP1_uc002ocf.2_Missense_Mutation_p.P560H|APLP1_uc002ocg.2_Missense_Mutation_p.P463H|APLP1_uc010xta.1_Missense_Mutation_p.P553H NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 559 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGGGTTTCCCTTTCCACTCA 0.587 TYROBP 7305 broad.mit.edu 37 19 36398163 36398163 + Missense_Mutation SNP G G A rs150310136 TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:36398163G>A uc002ocm.2 - 4 289 c.233C>T c.(232-234)GCG>GTG p.A78V TYROBP_uc002ocn.2_Missense_Mutation_p.A77V NM_003332 NP_003323 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 78 Cytoplasmic (Potential). axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TTTCCGGGTCGCTGCTGGAGG 0.537 ZNF566 84924 broad.mit.edu 37 19 36940481 36940481 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:36940481T>C uc002oea.3 - 5 737 c.655A>G c.(655-657)AAA>GAA p.K219E ZNF566_uc010xte.1_Missense_Mutation_p.K219E|ZNF566_uc010xtf.1_Missense_Mutation_p.K220E|ZNF566_uc002oeb.3_Missense_Mutation_p.K219E|ZNF566_uc002oec.3_Missense_Mutation_p.K115E|ZNF566_uc010xtg.1_Missense_Mutation_p.K115E NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 219 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GTATGAATTTTCTGATGATGA 0.388 SNRPA 6626 broad.mit.edu 37 19 41263270 41263270 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:41263270A>G uc002ooz.2 + 2 642 c.107A>G c.(106-108)CAG>CGG p.Q36R SNRPA_uc002opa.2_5'UTR NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 36 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ATCTTCTCCCAGTTTGGCCAG 0.527 PSG6 5675 broad.mit.edu 37 19 43528974 43528974 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:43528974G>T uc002ovh.1 - 2 406 c.317C>A c.(316-318)ACA>AAA p.T106K PSG11_uc002ouw.2_Missense_Mutation_p.T106K|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.T106K|PSG11_uc002ovm.1_Missense_Mutation_p.T100K|PSG11_uc002ovn.1_Missense_Mutation_p.T106K|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron Q00889 PSG6_HUMAN SubName: Full=Putative uncharacterized protein PSG6; 99 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) GGAATATACTGTTTCTCGTCC 0.453 SLC6A16 28968 broad.mit.edu 37 19 49813671 49813671 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:49813671C>A uc002pmz.2 - 3 746 c.512G>T c.(511-513)GGC>GTC p.G171V SLC6A16_uc002pna.2_Missense_Mutation_p.G171V|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 171 integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) TACACCCATGCCACCCTGACG 0.557 KCNC3 3748 broad.mit.edu 37 19 50826555 50826555 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:50826555T>G uc002pru.1 - 2 1950 c.1655A>C c.(1654-1656)AAG>ACG p.K552T KCNC3_uc002prt.1_Missense_Mutation_p.K188T NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 552 Cytoplasmic (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CAGCTTCTGCTTGGCCATGGC 0.647 ZNF331 55422 broad.mit.edu 37 19 54080139 54080139 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:54080139A>G uc002qbx.1 + 7 1759 c.325A>G c.(325-327)AAA>GAA p.K109E ZNF331_uc002qby.1_Missense_Mutation_p.K109E|ZNF331_uc002qbz.1_Missense_Mutation_p.K109E|ZNF331_uc002qca.1_Missense_Mutation_p.K109E|ZNF331_uc010eqr.1_Missense_Mutation_p.K109E|ZNF331_uc002qcb.1_Missense_Mutation_p.K109E|ZNF331_uc002qcc.1_Missense_Mutation_p.K109E|ZNF331_uc002qcd.1_Missense_Mutation_p.K109E NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 109 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) CAATTATGTCAAAAGACCTGC 0.453 T ? follicular thyroid adenoma KIR3DL1 3811 broad.mit.edu 37 19 55331283 55331283 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:55331283A>C uc002qhk.3 + 4 534 c.471A>C c.(469-471)AAA>AAC p.K157N KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.K99N|KIR3DL1_uc010esf.2_Missense_Mutation_p.K62N|KIR3DL1_uc010yfo.1_Missense_Mutation_p.K99N|KIR3DL1_uc002qhl.3_Missense_Mutation_p.K157N NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 157 Extracellular (Potential).|Ig-like C2-type 2. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TTCTGCACAAAGAGGGGATCT 0.537 PTPRH 5794 broad.mit.edu 37 19 55708037 55708037 + Missense_Mutation SNP G G A rs73619559 byFrequency TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:55708037G>A uc002qjq.2 - 10 2183 c.2110C>T c.(2110-2112)CGG>TGG p.R704W PTPRH_uc010esv.2_Missense_Mutation_p.R526W|PTPRH_uc002qjs.2_Missense_Mutation_p.R711W NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 704 Extracellular (Potential).|Fibronectin type-III 8. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGGGAGCCCCGCTGTCCTCCC 0.627 ZNF551 90233 broad.mit.edu 37 19 58198809 58198809 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:58198809G>A uc002qpw.3 + 3 1341 c.1118G>A c.(1117-1119)AGG>AAG p.R373K ZNF551_uc002qpv.3_Missense_Mutation_p.R316K|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCTGGAGAAAGGCCTTATCAG 0.448 TMEM178 130733 broad.mit.edu 37 2 39944200 39944200 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:39944200G>A uc002rrt.2 + 4 728 c.703G>A c.(703-705)GAT>AAT p.D235N TMEM178_uc010fam.1_Missense_Mutation_p.D189N NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 235 Extracellular (Potential). integral to membrane 0 all_hematologic(82;0.248) TATCTCGTATGATTTGAACCG 0.418 SOCS5 9655 broad.mit.edu 37 2 46986595 46986595 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:46986595A>G uc002rvf.2 + 2 1090 c.926A>G c.(925-927)GAA>GGA p.E309G SOCS5_uc010yoe.1_Missense_Mutation_p.E278G|SOCS5_uc002rvg.2_Missense_Mutation_p.E309G NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 309 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GGAATGACTGAAATAAGTGGG 0.453 ERLEC1 27248 broad.mit.edu 37 2 54014465 54014465 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:54014465G>A uc002rxl.2 + 1 398 c.118G>A c.(118-120)GAC>AAC p.D40N ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.D40N|ERLEC1_uc002rxn.2_Missense_Mutation_p.D40N NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 40 ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 ACTCAGCGATGACATCCCTTT 0.672 EFEMP1 2202 broad.mit.edu 37 2 56144910 56144910 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:56144910T>G uc002rzh.2 - 4 737 c.407A>C c.(406-408)AAC>ACC p.N136T EFEMP1_uc002rzi.2_Missense_Mutation_p.N136T|EFEMP1_uc002rzj.2_Missense_Mutation_p.N136T|EFEMP1_uc010ypc.1_Missense_Mutation_p.N78T NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 136 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GATGACAAAGTTATTTCGGCC 0.592 RAB11FIP5 26056 broad.mit.edu 37 2 73303283 73303283 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:73303283G>A uc002siu.3 - 4 1837 c.1596C>T c.(1594-1596)GCC>GCT p.A532A RAB11FIP5_uc002sis.3_5'UTR|RAB11FIP5_uc002sit.3_Silent_p.A454A NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 532 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 CCACAGGGGCGGCACTGAGGG 0.607 PROM2 150696 broad.mit.edu 37 2 95947106 95947106 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:95947106T>C uc002suh.1 + 12 1677 c.1544T>C c.(1543-1545)CTC>CCC p.L515P PROM2_uc002sui.2_Missense_Mutation_p.L515P|PROM2_uc002suj.2_Missense_Mutation_p.L169P|PROM2_uc002suk.2_Missense_Mutation_p.L515P|PROM2_uc002sul.2_Missense_Mutation_p.L41P|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 515 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 AACGGCGAGCTCTTTGAGGTA 0.642 SLC9A2 6549 broad.mit.edu 37 2 103318883 103318883 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:103318883A>C uc002tca.2 + 9 1909 c.1767A>C c.(1765-1767)AAA>AAC p.K589N NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 589 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GTGAAGAAAAAATAAGGAAGG 0.303 RANBP2 5903 broad.mit.edu 37 2 109383177 109383177 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:109383177A>T uc002tem.3 + 20 6308 c.6182A>T c.(6181-6183)AAA>ATA p.K2061I NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2061 RanBD1 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 GGGAACTTAAAAATTCTCAAA 0.388 MERTK 10461 broad.mit.edu 37 2 112786254 112786254 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:112786254G>A uc002thk.1 + 19 2935 c.2813G>A c.(2812-2814)TGG>TAG p.W938* MERTK_uc002thl.1_Nonsense_Mutation_p.W762* NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 938 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 AGTGAGGAATGGGAAGATCTG 0.542 TUBA3D 113457 broad.mit.edu 37 2 132240409 132240409 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:132240409C>T uc002tsu.3 + 5 1448 c.1341C>T c.(1339-1341)GGC>GGT p.G447G NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 447 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CTGAAGAAGGCGAAGAATACT 0.547 CSRNP3 80034 broad.mit.edu 37 2 166535277 166535277 + Nonsense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:166535277G>T uc002udf.2 + 7 1148 c.772G>T c.(772-774)GAA>TAA p.E258* CSRNP3_uc002udg.2_Nonsense_Mutation_p.E258* NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 258 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 AGGTAGAATTGAATTTAATCC 0.443 TTN 7273 broad.mit.edu 37 2 179429558 179429558 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:179429558C>T uc010zfg.1 - 275 73821 c.73597G>A c.(73597-73599)GGC>AGC p.G24533S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G18228S|TTN_uc010zfi.1_Missense_Mutation_p.G18161S|TTN_uc010zfj.1_Missense_Mutation_p.G18036S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25460 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) ATTTTGGTGCCTCCATCATTC 0.393 FAM171B 165215 broad.mit.edu 37 2 187627498 187627498 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr2:187627498A>G uc002ups.2 + 8 2541 c.2429A>G c.(2428-2430)AAG>AGG p.K810R FAM171B_uc002upr.1_Missense_Mutation_p.K777R|FAM171B_uc002upt.2_Missense_Mutation_p.K279R NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 810 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AGAGATAGCAAGACTAACATC 0.458 ERGIC3 51614 broad.mit.edu 37 20 34136347 34136347 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr20:34136347C>T uc002xct.2 + 6 616 c.547C>T c.(547-549)CGG>TGG p.R183W ERGIC3_uc002xcr.1_Missense_Mutation_p.R183W|ERGIC3_uc010zvg.1_Missense_Mutation_p.R183W|ERGIC3_uc002xcs.2_Missense_Mutation_p.R183W|ERGIC3_uc002xcu.2_Missense_Mutation_p.R183W|ERGIC3_uc002xcv.2_Missense_Mutation_p.R146W NM_015966 NP_057050 Q9Y282 ERGI3_HUMAN serologically defined breast cancer antigen 84 183 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding large_intestine(2)|ovary(1) 3 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) TGAGCAGTGCCGGCGAGAGGG 0.542 ZNF831 128611 broad.mit.edu 37 20 57829765 57829765 + Silent SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr20:57829765C>T uc002yan.2 + 5 5001 c.5001C>T c.(4999-5001)AGC>AGT p.S1667S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1667 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACACCAGCAGCGACGATGAAG 0.438 ABCG1 9619 broad.mit.edu 37 21 43714709 43714709 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr21:43714709T>G uc002zaq.2 + 14 1853 c.1747T>G c.(1747-1749)TTC>GTC p.F583V ABCG1_uc002zan.2_Missense_Mutation_p.F573V|ABCG1_uc002zam.2_Missense_Mutation_p.F549V|ABCG1_uc002zao.2_Missense_Mutation_p.F568V|ABCG1_uc002zap.2_Missense_Mutation_p.F571V|ABCG1_uc002zar.2_Missense_Mutation_p.F582V|ABCG1_uc011aev.1_Missense_Mutation_p.F594V|ABCG1_uc010gpb.1_Missense_Mutation_p.L223R NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 583 ABC transmembrane type-2.|Helical; (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) CTCGGGGTTCTTCGTCAGCTT 0.617 ZNF280B 140883 broad.mit.edu 37 22 22842771 22842771 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr22:22842771T>G uc002zwc.1 - 4 1729 c.953A>C c.(952-954)AAT>ACT p.N318T LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AAACTTAACATTTTTTAGAAC 0.463 SEZ6L 23544 broad.mit.edu 37 22 26692998 26692998 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr22:26692998C>T uc003acb.2 + 4 1270 c.1114C>T c.(1114-1116)CGG>TGG p.R372W SEZ6L_uc003acc.2_Missense_Mutation_p.R372W|SEZ6L_uc011akc.1_Missense_Mutation_p.R372W|SEZ6L_uc003acd.2_Missense_Mutation_p.R372W|SEZ6L_uc011akd.1_Missense_Mutation_p.R372W|SEZ6L_uc003ace.2_Missense_Mutation_p.R372W|SEZ6L_uc003acf.1_Missense_Mutation_p.R145W|SEZ6L_uc010gvc.1_Missense_Mutation_p.R145W NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 372 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CGTCTACTTCCGGACCTTCCA 0.612 NEFH 4744 broad.mit.edu 37 22 29884869 29884869 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr22:29884869G>A uc003afo.2 + 4 1311 c.1240G>A c.(1240-1242)GGC>AGC p.G414S NEFH_uc003afp.2_5'Flank NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 414 Tail. cell death|nervous system development neurofilament 0 GTGTCGGATTGGCTTTGGCCC 0.408 MTMR3 8897 broad.mit.edu 37 22 30421750 30421750 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr22:30421750A>G uc003agv.3 + 20 3885 c.3557A>G c.(3556-3558)GAC>GGC p.D1186G MTMR3_uc003agu.3_Missense_Mutation_p.D1158G|MTMR3_uc003agw.3_Missense_Mutation_p.D1149G NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 1186 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCCAGCATTGACCTTGAACTG 0.532 SLC6A11 6538 broad.mit.edu 37 3 10975851 10975851 + Missense_Mutation SNP C C T rs61730121 byFrequency TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:10975851C>T uc003bvz.2 + 12 1608 c.1574C>T c.(1573-1575)GCG>GTG p.A525V NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 525 Helical; Name=11; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGGATCTGCGCGGTAAGGGCC 0.592 ANKRD28 23243 broad.mit.edu 37 3 15778572 15778572 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:15778572A>T uc003caj.1 - 5 573 c.430T>A c.(430-432)TTA>ATA p.L144I ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.L174I|ANKRD28_uc003cam.2_Missense_Mutation_p.L177I NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 144 ANK 4. nucleoplasm protein binding breast(1) 1 GCATGATGTAATGCAGTCCTC 0.423 ZNF167 55888 broad.mit.edu 37 3 44611431 44611431 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:44611431A>G uc010hin.2 + 6 1217 c.829A>G c.(829-831)AAG>GAG p.K277E ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.K126E|ZNF167_uc003cnj.2_Missense_Mutation_p.K277E|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 277 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GAACATGATGAAGGGTTCAGA 0.428 CDCP1 64866 broad.mit.edu 37 3 45153868 45153868 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:45153868A>C uc003com.2 - 3 497 c.362T>G c.(361-363)CTC>CGC p.L121R CDCP1_uc003con.2_Missense_Mutation_p.L121R NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 121 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGTTCTGTTGAGGGTAGGCAA 0.502 SCAP 22937 broad.mit.edu 37 3 47456465 47456465 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:47456465C>A uc003crh.1 - 20 3413 c.3158G>T c.(3157-3159)AGT>ATT p.S1053I SCAP_uc011baz.1_Missense_Mutation_p.S797I|SCAP_uc003crg.2_Missense_Mutation_p.S660I|uc003cri.2_RNA NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 1053 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GGCAGGGGAACTGCCCCGCCC 0.592 RHOA 387 broad.mit.edu 37 3 49413010 49413010 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:49413010G>A uc003cwu.2 - 2 289 c.13C>T c.(13-15)CGG>TGG p.R5W RHOA_uc010hku.2_Intron NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 5 axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) AGTTTCTTCCGGATGGCAGCC 0.473 CACNA2D3 55799 broad.mit.edu 37 3 55038842 55038842 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:55038842G>A uc003dhf.2 + 32 2791 c.2743G>A c.(2743-2745)GAT>AAT p.D915N CACNA2D3_uc003dhg.1_Missense_Mutation_p.D821N|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 915 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GGAAAGCAGCGATGGCGCCCA 0.458 BBX 56987 broad.mit.edu 37 3 107491699 107491699 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:107491699A>C uc010hpr.2 + 11 1458 c.1131A>C c.(1129-1131)CAA>CAC p.Q377H BBX_uc003dwk.3_Missense_Mutation_p.Q377H|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.Q398H|BBX_uc003dwm.3_Missense_Mutation_p.Q377H|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGGCATTGCAAATAGATGACA 0.313 GHSR 2693 broad.mit.edu 37 3 172162986 172162986 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:172162986A>G uc003fib.1 - 2 1066 c.1066T>C c.(1066-1068)TCT>CCT p.S356P NM_198407 NP_940799 Q92847 GHSR_HUMAN growth hormone secretagogue receptor isoform 1a 356 Cytoplasmic (Potential). actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity lung(3)|ovary(1)|central_nervous_system(1) 5 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CAGGCCCGAGAACTTTCATCT 0.468 PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:178917478G>A uc003fjk.2 + 3 510 c.353G>A c.(352-354)GGT>GAT p.G118D NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 118 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.G118D(6) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TTTATTAAAGGTTTTGCTATC 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178917669 178917669 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr3:178917669T>C uc003fjk.2 + 3 701 c.544T>C c.(544-546)TAT>CAT p.Y182H NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 182 PI3K-RBD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAAGCACATATATAATAAATT 0.313 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) D4S234E 27065 broad.mit.edu 37 4 4389469 4389469 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:4389469T>C uc011bvz.1 + 5 1394 c.113T>C c.(112-114)TTC>TCC p.F38S D4S234E_uc011bwa.1_Missense_Mutation_p.F38S|D4S234E_uc003ghz.2_Missense_Mutation_p.F38S|D4S234E_uc003gia.2_Missense_Mutation_p.F38S|D4S234E_uc003gib.2_Missense_Mutation_p.F38S NM_014392 NP_055207 P42857 NSG1_HUMAN brain neuron cytoplasmic protein 1 38 Cytoplasmic (Potential). dopamine receptor signaling pathway Golgi membrane|integral to membrane|nucleus dopamine receptor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.166) CAGCTGCAGTTCCCGCCCCCG 0.637 SLC4A4 8671 broad.mit.edu 37 4 72316960 72316960 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:72316960G>A uc003hfy.2 + 11 1381 c.1264G>A c.(1264-1266)GAT>AAT p.D422N SLC4A4_uc010iic.2_Missense_Mutation_p.D422N|SLC4A4_uc010iib.2_Missense_Mutation_p.D422N|SLC4A4_uc003hfz.2_Missense_Mutation_p.D422N|SLC4A4_uc003hgc.3_Missense_Mutation_p.D378N|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.D300N|SLC4A4_uc003hgb.3_Missense_Mutation_p.D378N NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 422 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TACGCCCCATGATGGAGGTCA 0.443 CENPE 1062 broad.mit.edu 37 4 104030045 104030045 + Silent SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:104030045A>C uc003hxb.1 - 48 8016 c.7926T>G c.(7924-7926)TCT>TCG p.S2642S CENPE_uc003hxc.1_Silent_p.S2521S NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2642 Globular autoinhibitory domain (By similarity). blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CAAAAAAACAAGATTTTGGTG 0.373 NDST4 64579 broad.mit.edu 37 4 115998026 115998026 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:115998026T>G uc003ibu.2 - 2 846 c.167A>C c.(166-168)AAA>ACA p.K56T NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 56 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGGTAGAATTTTGATGTCAGT 0.413 HSPA4L 22824 broad.mit.edu 37 4 128726362 128726362 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:128726362A>G uc003ifm.2 + 9 1373 c.1120A>G c.(1120-1122)AGA>GGA p.R374G HSPA4L_uc010iny.1_Missense_Mutation_p.R333G|HSPA4L_uc011cgr.1_Missense_Mutation_p.R341G NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 374 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 AGCTGTTGCAAGAGGATGTGC 0.343 PCDH10 57575 broad.mit.edu 37 4 134072953 134072953 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:134072953C>T uc003iha.2 + 1 2484 c.1658C>T c.(1657-1659)GCG>GTG p.A553V uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.A553V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 553 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AGCCCCCAGGCGCTGGCTGGT 0.602 TRIM2 23321 broad.mit.edu 37 4 154216607 154216607 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:154216607A>G uc003ing.2 + 6 1049 c.848A>G c.(847-849)GAG>GGG p.E283G TRIM2_uc003inh.2_Missense_Mutation_p.E310G NM_001130067 NP_001123539 Q9C040 TRIM2_HUMAN tripartite motif-containing 2 isoform 2 283 cytoplasm zinc ion binding central_nervous_system(1) 1 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AAGCTGAACGAGCTGGCCGAC 0.587 GALNT7 51809 broad.mit.edu 37 4 174169235 174169235 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:174169235A>G uc003isz.3 + 2 314 c.231A>G c.(229-231)GGA>GGG p.G77G NM_017423 NP_059119 Q86SF2 GALT7_HUMAN polypeptide N-acetylgalactosaminyltransferase 7 77 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1) 1 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) ATGTTGAAGGAGTAGAAGTGG 0.483 WWC2 80014 broad.mit.edu 37 4 184233538 184233538 + Missense_Mutation SNP G G C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr4:184233538G>C uc010irx.2 + 22 3611 c.3429G>C c.(3427-3429)GAG>GAC p.E1143D WWC2_uc003ivk.3_Missense_Mutation_p.E938D|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.E825D|WWC2_uc003ivn.3_Missense_Mutation_p.E658D|WWC2_uc010irz.2_Missense_Mutation_p.E484D|WWC2_uc003ivo.3_Missense_Mutation_p.E271D NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 1143 Potential. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TGAATGCAGAGAAGTTGATGA 0.498 RAI14 26064 broad.mit.edu 37 5 34811167 34811167 + Silent SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr5:34811167C>A uc003jir.2 + 8 697 c.501C>A c.(499-501)ATC>ATA p.I167I RAI14_uc010iur.2_Silent_p.I167I|RAI14_uc011coj.1_Silent_p.I167I|RAI14_uc010ius.1_Silent_p.I96I|RAI14_uc003jis.2_Silent_p.I170I|RAI14_uc003jit.2_Silent_p.I167I|RAI14_uc011cok.1_Silent_p.I159I NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 167 ANK 5. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) ACAGTGAGATCTGTCACTTTC 0.428 PCDHB5 26167 broad.mit.edu 37 5 140516596 140516596 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr5:140516596A>G uc003liq.2 + 1 1797 c.1580A>G c.(1579-1581)GAG>GGG p.E527G NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 527 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGGCGTTCGAGTTCCGCGTG 0.687 PCDHB15 56121 broad.mit.edu 37 5 140627353 140627353 + Missense_Mutation SNP T T A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr5:140627353T>A uc003lje.2 + 1 2207 c.2207T>A c.(2206-2208)CTG>CAG p.L736Q NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 736 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGGGCATCTGGTGGACGTG 0.612 PCDHGA2 56113 broad.mit.edu 37 5 140719560 140719560 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr5:140719560A>C uc003ljk.1 + 1 1207 c.1022A>C c.(1021-1023)AAT>ACT p.N341T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.N341T NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 341 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGATGTGAATGACAATGCC 0.423 LSM11 134353 broad.mit.edu 37 5 157181043 157181043 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr5:157181043A>C uc003lxe.1 + 3 624 c.620A>C c.(619-621)AAA>ACA p.K207T LSM11_uc003lxf.1_5'Flank NM_173491 NP_775762 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 207 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACCTACCGAAAACCTGTCCTA 0.433 TUBB2B 347733 broad.mit.edu 37 6 3226489 3226489 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:3226489G>A uc003mvg.2 - 3 372 c.181C>T c.(181-183)CCT>TCT p.P61S uc003mvi.1_5'Flank|TUBB2B_uc010jnj.2_Intron|TUBB2B_uc010jnk.2_5'UTR|TUBB2B_uc003mvh.2_Silent_p.F35F NM_178012 NP_821080 Q9BVA1 TBB2B_HUMAN tubulin, beta 2B 61 'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity large_intestine(1) 1 Ovarian(93;0.0386) all_hematologic(90;0.108) ATGGCCCGAGGAACATATTTG 0.532 RANBP9 10048 broad.mit.edu 37 6 13644914 13644914 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:13644914G>A uc003nbb.2 - 6 1034 c.975C>T c.(973-975)GTC>GTT p.V325V RANBP9_uc003nba.2_5'UTR NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 325 B30.2/SPRY. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) AATTGGCATCGACCACTTCTC 0.388 GABBR1 2550 broad.mit.edu 37 6 29574733 29574733 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:29574733T>C uc003nmt.3 - 18 2494 c.2158A>G c.(2158-2160)ATG>GTG p.M720V GABBR1_uc003nmp.3_Missense_Mutation_p.M603V|GABBR1_uc003nms.3_Missense_Mutation_p.M603V|GABBR1_uc003nmu.3_Missense_Mutation_p.M658V|GABBR1_uc011dlr.1_Missense_Mutation_p.M543V NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 720 Helical; Name=4; (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) AGGACATCCATGCCCACCAGC 0.567 HCRTR2 3062 broad.mit.edu 37 6 55145185 55145185 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:55145185C>T uc003pcl.2 + 6 1363 c.1048C>T c.(1048-1050)CAC>TAC p.H350Y HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 350 Helical; Name=7; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TACCTTTTCACACTGGCTTGT 0.378 C6orf204 387119 broad.mit.edu 37 6 118804953 118804953 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:118804953T>G uc003pxz.1 - 7 2094 c.1506A>C c.(1504-1506)AAA>AAC p.K502N C6orf204_uc003pya.1_Missense_Mutation_p.K505N NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 502 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TCTGCTTTTCTTTGTTTTGTT 0.353 EYA4 2070 broad.mit.edu 37 6 133846387 133846387 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:133846387A>G uc003qec.3 + 19 2292 c.1834A>G c.(1834-1836)AAA>GAA p.K612E EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Intron|EYA4_uc003qee.3_Missense_Mutation_p.K589E|EYA4_uc011ecs.1_Missense_Mutation_p.K618E|uc003qeg.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a 612 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACAGGCAGCAAAAAAGGTAAC 0.398 RSPH3 83861 broad.mit.edu 37 6 159420551 159420551 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:159420551C>T uc003qrx.2 - 1 648 c.458G>A c.(457-459)CGG>CAG p.R153Q RSPH3_uc010kju.2_Missense_Mutation_p.R153Q|RSPH3_uc003qry.1_Missense_Mutation_p.R153Q NM_031924 NP_114130 Q86UC2 RSPH3_HUMAN radial spoke 3 homolog 153 ovary(1)|skin(1) 2 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06) GCTCGGGGCCCGAGAGGTGCG 0.662 TTLL2 83887 broad.mit.edu 37 6 167754950 167754950 + Missense_Mutation SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:167754950T>C uc003qvs.1 + 3 1650 c.1562T>C c.(1561-1563)CTC>CCC p.L521P TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 521 protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CACAAGACACTCATGCCCTAC 0.572 OSBPL3 26031 broad.mit.edu 37 7 24905028 24905028 + Silent SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:24905028A>G uc003sxf.2 - 7 1011 c.606T>C c.(604-606)TCT>TCC p.S202S OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.S202S|OSBPL3_uc003sxh.2_Silent_p.S202S|OSBPL3_uc003sxi.2_Silent_p.S202S NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 202 lipid transport lipid binding|protein binding skin(1) 1 CACCACCACAAGAAAATGATA 0.403 DPY19L1 23333 broad.mit.edu 37 7 35057571 35057571 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:35057571T>G uc003tem.3 - 3 260 c.115A>C c.(115-117)ACA>CCA p.T39P NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 39 integral to membrane 0 AAGAGGTGTGTTATATGGCTC 0.323 GLI3 2737 broad.mit.edu 37 7 42005274 42005274 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:42005274C>T uc011kbh.1 - 15 3488 c.3397G>A c.(3397-3399)GGG>AGG p.G1133R GLI3_uc011kbg.1_Missense_Mutation_p.G1074R NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1133 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 TCTGGCAGCCCGGGCGCGTCA 0.642 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome ZSCAN21 7589 broad.mit.edu 37 7 99655484 99655484 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:99655484A>C uc003uso.2 + 3 707 c.563A>C c.(562-564)GAG>GCG p.E188A ZSCAN21_uc003usn.1_Missense_Mutation_p.E187A NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 188 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAGGAGCAGGAGTTCGCTCAA 0.542 STAG3 10734 broad.mit.edu 37 7 99808704 99808704 + Silent SNP G G A rs147288707 TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:99808704G>A uc003utx.1 + 30 3464 c.3309G>A c.(3307-3309)CCG>CCA p.P1103P STAG3_uc011kjk.1_Silent_p.P1045P|GATS_uc003uty.3_Intron|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Silent_p.P327P NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1103 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACAGCATCCCGCCCACGCCCA 0.572 MET 4233 broad.mit.edu 37 7 116397506 116397506 + Silent SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:116397506T>G uc003vij.2 + 7 2065 c.1878T>G c.(1876-1878)GTT>GTG p.V626V MET_uc010lkh.2_Silent_p.V626V|MET_uc011knd.1_Silent_p.V626V|MET_uc011kne.1_Silent_p.V598V|MET_uc011knf.1_Silent_p.V626V|MET_uc011kng.1_Silent_p.V626V|MET_uc011knh.1_Silent_p.V626V|MET_uc011kni.1_Silent_p.V626V|MET_uc011knj.1_Silent_p.V196V NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 626 Extracellular (Potential).|IPT/TIG 1. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AATGCACAGTTGGTCCTGCCA 0.353 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) AKR1B1 231 broad.mit.edu 37 7 134136460 134136460 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:134136460C>T uc003vrp.1 - 2 186 c.112G>A c.(112-114)GTC>ATC p.V38I AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 38 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) CGGTACCCGACGTCAATGGCC 0.587 BRAF 673 broad.mit.edu 37 7 140453133 140453133 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr7:140453133T>G uc003vwc.3 - 15 1863 c.1802A>C c.(1801-1803)AAA>ACA p.K601T NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 601 Protein kinase. K -> Q (in CFC syndrome).|K -> E (in colorectal cancer). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.K601E(47)|p.V600_K601>E(8)|p.K601N(7)|p.K601del(4)|p.K601Q(3)|p.T599_R603>I(2)|p.V600_W604del(1)|p.K601K(1)|p.K601L(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.K601I(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) CCATCGAGATTTCACTGTAGC 0.373 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome CLN8 2055 broad.mit.edu 37 8 1728422 1728422 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:1728422T>G uc003wpo.3 + 3 855 c.550T>G c.(550-552)TGG>GGG p.W184G NM_018941 NP_061764 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 184 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GCAGGCGGGCTGGTCCGAGTC 0.458 WRN 7486 broad.mit.edu 37 8 30938688 30938688 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:30938688A>C uc003xio.3 + 9 1933 c.1145A>C c.(1144-1146)AAA>ACA p.K382T WRN_uc011lbd.1_Missense_Mutation_p.K85T|WRN_uc011lbe.1_5'Flank NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 382 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GAAGACAACAAATTGAAAGAG 0.348 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome RP1 6101 broad.mit.edu 37 8 55542502 55542502 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:55542502T>G uc003xsd.1 + 4 6208 c.6060T>G c.(6058-6060)AAT>AAG p.N2020K RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2020 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGAAGGTAATTTAAAGAAAT 0.308 ZFPM2 23414 broad.mit.edu 37 8 106813505 106813505 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:106813505C>T uc003ymd.2 + 8 1218 c.1195C>T c.(1195-1197)CAC>TAC p.H399Y ZFPM2_uc011lhs.1_Missense_Mutation_p.H130Y|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 399 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGACATGGAACACTCTCCAAG 0.507 CSMD3 114788 broad.mit.edu 37 8 113418874 113418874 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:113418874G>A uc003ynu.2 - 35 5847 c.5688C>T c.(5686-5688)GTC>GTT p.V1896V CSMD3_uc003yns.2_Silent_p.V1098V|CSMD3_uc003ynt.2_Silent_p.V1856V|CSMD3_uc011lhx.1_Silent_p.V1792V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1896 Sushi 10.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCGATGAACCGACTGCAAATT 0.403 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) COL14A1 7373 broad.mit.edu 37 8 121170389 121170389 + Silent SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:121170389A>C uc003yox.2 + 3 374 c.109A>C c.(109-111)AGA>CGA p.R37R NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 37 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CACAAGGTTAAGATATAATGT 0.343 NAPRT1 93100 broad.mit.edu 37 8 144658639 144658639 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr8:144658639G>A uc003yym.3 - 7 1010 c.985C>T c.(985-987)CAG>TAG p.Q329* NAPRT1_uc003yyn.3_Nonsense_Mutation_p.Q329*|NAPRT1_uc011lkh.1_Nonsense_Mutation_p.Q329*|NAPRT1_uc003yyo.3_Nonsense_Mutation_p.Q329* NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 329 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGGATCTCCTGAGCCTGCTGT 0.657 MLLT3 4300 broad.mit.edu 37 9 20414419 20414419 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:20414419G>A uc003zoe.2 - 5 684 c.425C>T c.(424-426)CCT>CTT p.P142L MLLT3_uc011lne.1_Missense_Mutation_p.P110L|MLLT3_uc011lnf.1_Missense_Mutation_p.P139L|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.P110L NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ACTCCTATTAGGGTCCTGCAA 0.209 T MLL ALL PIGO 84720 broad.mit.edu 37 9 35091599 35091599 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:35091599G>A uc003zwd.2 - 7 2681 c.2285C>T c.(2284-2286)CCT>CTT p.P762L PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwe.2_Intron|PIGO_uc003zwf.2_Intron|PIGO_uc003zwg.1_Missense_Mutation_p.P325L NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, 762 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity large_intestine(1)|ovary(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CACTGTCACAGGCTTCCAGAG 0.647 INVS 27130 broad.mit.edu 37 9 103015323 103015323 + Nonsense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:103015323A>T uc004bap.1 + 10 1581 c.1369A>T c.(1369-1371)AGA>TGA p.R457* INVS_uc010mta.1_Nonsense_Mutation_p.R361*|INVS_uc011lve.1_Nonsense_Mutation_p.R361*|INVS_uc004bao.1_Nonsense_Mutation_p.R457*|INVS_uc004baq.1_Nonsense_Mutation_p.R361*|INVS_uc004bar.1_Nonsense_Mutation_p.R361*|INVS_uc010mtb.1_Nonsense_Mutation_p.R131* NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 457 ANK 14. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) TTATGCAGGAAGAACCCCTTT 0.418 C9orf84 158401 broad.mit.edu 37 9 114454546 114454546 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:114454546T>G uc004bfr.2 - 25 3654 c.3519A>C c.(3517-3519)AAA>AAC p.K1173N C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.K1134N|C9orf84_uc010mug.2_Missense_Mutation_p.K1084N NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1173 ovary(2) 2 TTGAGATTTCTTTTAGTTCCA 0.358 SLC46A2 57864 broad.mit.edu 37 9 115651953 115651953 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:115651953C>T uc004bgk.2 - 1 1241 c.1009G>A c.(1009-1011)GGT>AGT p.G337S NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 337 Helical; Name=8; (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 ACCAGGACACCCAGGAAGCTG 0.547 TNC 3371 broad.mit.edu 37 9 117835903 117835903 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:117835903C>T uc004bjj.3 - 10 3555 c.3193G>A c.(3193-3195)GCA>ACA p.A1065T TNC_uc010mvf.2_Missense_Mutation_p.A1065T NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1065 Fibronectin type-III 5. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TTCACACGTGCGGGCTTGCTC 0.542 OR1B1 347169 broad.mit.edu 37 9 125391471 125391471 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:125391471A>G uc011lyz.1 - 1 344 c.344T>C c.(343-345)CTT>CCT p.L115P NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGCAATGACAAGTGTATCTGT 0.502 DBH 1621 broad.mit.edu 37 9 136516786 136516786 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:136516786G>A uc004cel.2 + 7 1231 c.1222G>A c.(1222-1224)GCC>ACC p.A408T NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 408 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCACATCTTCGCCTCTCAGCT 0.657 SOHLH1 402381 broad.mit.edu 37 9 138588459 138588459 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr9:138588459T>C uc004cgl.2 - 5 721 c.660A>G c.(658-660)TCA>TCG p.S220S SOHLH1_uc010nbe.2_Silent_p.S220S NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 220 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) AGGACTCACCTGAGAAAGGGG 0.657 TAB3 257397 broad.mit.edu 37 X 30852177 30852177 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:30852177C>T uc004dcj.2 - 10 2644 c.1981G>A c.(1981-1983)GCT>ACT p.A661T TAB3_uc004dck.2_Missense_Mutation_p.A661T|TAB3_uc010ngl.2_Missense_Mutation_p.A633T NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 661 Poly-Ala. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 CCATCTGCAGCTGCTGCCTGG 0.433 BCOR 54880 broad.mit.edu 37 X 39916463 39916463 + Nonsense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:39916463G>A uc004den.3 - 11 4832 c.4540C>T c.(4540-4542)CGA>TGA p.R1514* BCOR_uc004dep.3_Nonsense_Mutation_p.R1480*|BCOR_uc004deo.3_Nonsense_Mutation_p.R1462*|BCOR_uc010nhb.2_Nonsense_Mutation_p.R222*|BCOR_uc004dem.3_Nonsense_Mutation_p.R1480* NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1514 ANK 2. heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 AGGAGGTGTCGCACAATGTTG 0.512 MED14 9282 broad.mit.edu 37 X 40513617 40513617 + Missense_Mutation SNP T T G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:40513617T>G uc004dex.3 - 30 4430 c.4290A>C c.(4288-4290)CAA>CAC p.Q1430H MED14_uc004dey.1_Missense_Mutation_p.Q332H NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 1430 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 GTCATGTACCTTGTCGTGGTG 0.438 USP9X 8239 broad.mit.edu 37 X 41027344 41027344 + Missense_Mutation SNP A A G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:41027344A>G uc004dfb.2 + 18 3142 c.2509A>G c.(2509-2511)AAA>GAA p.K837E USP9X_uc004dfc.2_Missense_Mutation_p.K837E NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 837 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GGATGGTGACAAAGACAGTGT 0.383 ITIH5L 347365 broad.mit.edu 37 X 54814956 54814956 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:54814956A>C uc004dtj.2 - 5 773 c.743T>G c.(742-744)GTT>GGT p.V248G NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 248 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ATCGTACTGAACCAGGAAGTC 0.577 ATRX 546 broad.mit.edu 37 X 76918944 76918944 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:76918944G>T uc004ecp.3 - 12 4279 c.4047C>A c.(4045-4047)GAC>GAA p.D1349E ATRX_uc004ecq.3_Missense_Mutation_p.D1311E|ATRX_uc004eco.3_Missense_Mutation_p.D1134E|ATRX_uc004ecr.2_Missense_Mutation_p.D1281E NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1349 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CAGATTCTCCGTCACTCACAG 0.358 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome CYLC1 1538 broad.mit.edu 37 X 83128752 83128752 + Missense_Mutation SNP G G T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:83128752G>T uc004eei.1 + 4 1057 c.1036G>T c.(1036-1038)GAT>TAT p.D346Y CYLC1_uc004eeh.1_Missense_Mutation_p.D345Y NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 346 3. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 tgaaaggaaagatacaaagaa 0.249 RPA4 29935 broad.mit.edu 37 X 96139827 96139827 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:96139827G>A uc004efv.3 + 1 816 c.518G>A c.(517-519)CGT>CAT p.R173H DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron NM_013347 NP_037479 Q13156 RFA4_HUMAN replication protein A4, 34kDa 173 DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair DNA replication factor A complex|nucleoplasm single-stranded DNA binding 0 AAAGCCCGTCGTGATACCACT 0.468 Other_identified_genes_with_known_or_suspected_DNA_repair_function ZMAT1 84460 broad.mit.edu 37 X 101138752 101138752 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:101138752T>C uc004eim.2 - 2 4632 c.1134A>G c.(1132-1134)AAA>AAG p.K378K ZMAT1_uc011mrl.1_Silent_p.K549K|ZMAT1_uc004ein.2_Silent_p.K378K|ZMAT1_uc011mrm.1_Silent_p.K378K NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 378 nucleus zinc ion binding ovary(1) 1 CTGGCCTTTCTTTGCCTTCTT 0.393 GLRA4 441509 broad.mit.edu 37 X 102978850 102978850 + Missense_Mutation SNP A A T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:102978850A>T uc011mse.1 - 5 932 c.511T>A c.(511-513)TCC>ACC p.S171T GLRA4_uc010nou.2_Missense_Mutation_p.S171T NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 171 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 ATCAGGCAGGACAAAATGAGG 0.483 AIFM1 9131 broad.mit.edu 37 X 129267364 129267364 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:129267364C>T uc004evg.2 - 13 1550 c.1372G>A c.(1372-1374)GCT>ACT p.A458T AIFM1_uc011mur.1_Missense_Mutation_p.A106T|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.A454T|AIFM1_uc004evi.2_Missense_Mutation_p.A171T|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 458 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 CTCACAACAGCGTGATCATGG 0.468 SAGE1 55511 broad.mit.edu 37 X 134987488 134987488 + Missense_Mutation SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:134987488G>A uc004ezh.2 + 5 558 c.391G>A c.(391-393)GCT>ACT p.A131T SAGE1_uc010nry.1_Missense_Mutation_p.A100T|SAGE1_uc011mvv.1_Missense_Mutation_p.A131T NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 131 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CTTGTCAACTGCTCCACCACA 0.458 SAGE1 55511 broad.mit.edu 37 X 134991106 134991106 + Missense_Mutation SNP C C A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:134991106C>A uc004ezh.2 + 13 1692 c.1525C>A c.(1525-1527)CCA>ACA p.P509T SAGE1_uc010nry.1_Missense_Mutation_p.P478T|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 509 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAATGATGCACCACAGCTTGG 0.423 MAMLD1 10046 broad.mit.edu 37 X 149639020 149639020 + Missense_Mutation SNP C C T TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:149639020C>T uc004fee.1 + 3 1251 c.1175C>T c.(1174-1176)ACG>ATG p.T392M MAMLD1_uc011mxt.1_Missense_Mutation_p.T354M|MAMLD1_uc011mxu.1_Missense_Mutation_p.T367M|MAMLD1_uc011mxv.1_Missense_Mutation_p.T367M|MAMLD1_uc011mxw.1_Missense_Mutation_p.T319M NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 392 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) TCAAGCATGACGTCCAGCAGC 0.602 GABRA3 2556 broad.mit.edu 37 X 151424324 151424324 + Silent SNP T T C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:151424324T>C uc010ntk.1 - 5 717 c.477A>G c.(475-477)TCA>TCG p.S159S NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 159 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TATGAGCCACTGATTTCTTGC 0.498 PLXNB3 5365 broad.mit.edu 37 X 153040751 153040751 + Silent SNP G G A TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:153040751G>A uc004fii.2 + 25 4401 c.4227G>A c.(4225-4227)TCG>TCA p.S1409S PLXNB3_uc010nuk.2_Silent_p.S1432S|PLXNB3_uc011mzd.1_Silent_p.S1048S|PLXNB3_uc004fij.1_Intron|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1409 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTGCTGTCGCTAGCGCTAC 0.627 F8 2157 broad.mit.edu 37 X 154225316 154225316 + Missense_Mutation SNP A A C TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chrX:154225316A>C uc004fmt.2 - 3 491 c.320T>G c.(319-321)CTT>CGT p.L107R F8_uc011mzx.1_Missense_Mutation_p.L72R NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 107 Plastocyanin-like 1.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CATGTTCTTAAGTGTAATGAC 0.458 GSTA4 2941 broad.mit.edu 37 6 52852195 52852197 + In_Frame_Del DEL TTC TTC - TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr6:52852194_52852196ATTC>A uc003pbf.3 - 2 248_250 c.98_100GAAT>T c.(97-102)gaattt>gTtt p.33_34EF>V GSTA4_uc003pbd.3_Intron NM_001512 NP_001503 O15217 GSTA4_HUMAN Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA. 33 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity endometrium(1)|lung(3)|skin(2)|urinary_tract(1) 7 Lung NSC(77;0.103) Glutathione(DB00143) GTTTCCAGAAATTCTTCATCAAA 0.310 AOC3 8639 broad.mit.edu 37 17 41003597 41003598 + Frame_Shift_Ins INS - - G TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr17:41003596_41003597T>TG uc002ibv.3 + 0 396_397 c.236_237T>TG c.(235-237)ctgfs p.L79fs NM_003734 NP_003725 Q16853 AOC3_HUMAN Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA. 79 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) ACCCAGCGGCTGGGGCCAGGGC 0.658 LENG9 94059 broad.mit.edu 37 19 54973460 54973461 + Frame_Shift_Del DEL TG TG - TCGA-BR-8366-01A-11D-2340-08 TCGA-BR-8366-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1abcee1-9890-44fc-b2b3-e506b7a7328b 5f6c1c99-0981-4fbf-93b5-8ad581ab25b6 g.chr19:54973459_54973460CTG>C uc010yez.2 - 0 1435_1436 c.1316_1317CAG>G c.(1315-1317)cagfs p.Q439fs NM_198988 NP_945339 Q96B70 LENG9_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA. 439 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GCCCTGGAGACTGTAGTGTACT 0.644