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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut PIGV 55650 broad.mit.edu 37 1 27120878 27120878 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:27120878C>T uc001bmz.3 + 2 716 c.353C>T c.(352-354)tCg>tTg p.S118L PIGV_uc001bna.3_Missense_Mutation_p.S118L|PIGV_uc010ofg.2_Intron NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA. 118 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CTGCTGATTTCGGTAGCATCA 0.507000 40 12 0 0 6.40141e-05 0 0 OR4D1 26689 broad.mit.edu 37 17 56233041 56233041 + Missense_Mutation SNP A C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:56233041A>C uc010wno.2 + 0 527 c.527A>C c.(526-528)aAc>aCc p.N176T MSX2P1_uc002ivn.3_5'Flank NM_012374 NP_036506 Q15615 OR4D1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 1 (OR4D1), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 ATCCTAGATAACTTCTACTGT 0.532000 48 14 0 0 0.000422831 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457018 110457018 + Silent SNP G T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:110457018G>T uc003yne.3 + 37 5024 c.4920G>T c.(4918-4920)ctG>ctT p.L1640L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1640 IPT/TIG 8. immune response cytosol|extracellular space|integral to membrane receptor activity p.V1639I(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCTACAACCTGGGCACTGCTA 0.403000 HNSCC(38;0.096) 213 51 3.31993e-32 4.7714e-31 0.000781405 1 0 ZNF225 7768 broad.mit.edu 37 19 44635207 44635207 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:44635207C>T uc002oyj.1 + 4 683 c.440C>T c.(439-441)cCt>cTt p.P147L ZNF225_uc010ejf.1_Missense_Mutation_p.P147L NM_013362 NP_037494 Q9UK10 ZN225_HUMAN Homo sapiens zinc finger protein 225 (ZNF225), mRNA. 147 RQKP -> KTET (in Ref. 1; AAF04107). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) AGACAGAAACCTTCTGAGGGT 0.413000 142 19 0 0 0.00074312 0 0 ZBBX 79740 broad.mit.edu 37 3 167000208 167000208 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:167000208G>A uc011bpc.2 - 19 2409 c.2072C>T c.(2071-2073)tCa>tTa p.S691L ZBBX_uc003feq.3_Missense_Mutation_p.S623L|ZBBX_uc003fep.3_Missense_Mutation_p.S652L NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 652 intracellular zinc ion binding p.D690E(1) NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATGAGAGGATGAAAGGCAACT 0.353000 181 31 0 0 0.000491102 0 0 UGT2B15 7366 broad.mit.edu 37 4 69512977 69512977 + Missense_Mutation SNP C T T rs146368165 byFrequency TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:69512977C>T uc021xow.1 - 5 1596 c.1438G>A c.(1438-1440)Gca>Aca p.A480T NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 480 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TTGTGAGCTGCGACTCGAAGG 0.478000 93 12 0 0 6.40141e-05 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86522373 86522373 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:86522373C>T uc011kha.2 - 19 2914 c.2729G>A c.(2728-2730)gGa>gAa p.G910E KIAA1324L_uc003uie.3_Missense_Mutation_p.G743E|KIAA1324L_uc011kgz.2_Missense_Mutation_p.G796E|KIAA1324L_uc003uif.2_Missense_Mutation_p.G662E NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 910 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CAAAGAAATTCCTTTAATGCA 0.398000 150 17 0 0 0.000375601 0 0 FOSL2 2355 broad.mit.edu 37 2 28631669 28631669 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:28631669G>A uc002rma.3 + 2 1207 c.398G>A c.(397-399)aGg>aAg p.R133K FOSL2_uc021vfg.1_Missense_Mutation_p.R108K|FOSL2_uc010ymi.2_Missense_Mutation_p.R94K NM_005253 NP_005244 P15408 FOSL2_HUMAN Homo sapiens FOS-like antigen 2 (FOSL2), mRNA. 133 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) CGGCGGGAGAGGAACAAGCTG 0.582000 21 4 0 0 3.59834e-05 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910836 230910836 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:230910836G>A uc002vqd.2 - 3 1465 c.1006C>T c.(1006-1008)Cac>Tac p.H336Y FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.H336Y|SLC16A14_uc002vqf.3_Missense_Mutation_p.H336Y NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 336 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCTGGGAGGTGAATGAAGGGG 0.403000 40 8 0 0 0.000274275 0 0 DPPA3 359787 broad.mit.edu 37 14 36840930 36840930 + Silent SNP G T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:36840930G>T uc001wtp.3 + 0 561 c.312G>T c.(310-312)ctG>ctT p.L104L NM_199286 NP_954980 Q6W0C5 DPPA3_HUMAN Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA. 104 cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2) 8 Kidney(36;0.0887) ACATGTTACTGGGCGGAGTTC 0.458000 44 5 0.000602214 0.0083971 0.000602214 1 0 ANGPT1 284 broad.mit.edu 37 8 108315569 108315569 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:108315569C>T uc003ymn.3 - 4 1303 c.835G>A c.(835-837)Gaa>Aaa p.E279K ANGPT1_uc011lhv.2_Missense_Mutation_p.E79K|ANGPT1_uc003ymo.3_Missense_Mutation_p.E278K|ANGPT1_uc003ymp.4_Missense_Mutation_p.E78K NM_001146 NP_001137 Q15389 ANGP1_HUMAN Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA. 279 Fibrinogen C-terminal. Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GGTTTCTCTTCCTCTCTTTTT 0.308000 78 12 0 0 0.00010058 0 0 CASC3 22794 broad.mit.edu 37 17 38318286 38318286 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:38318286G>A uc010cwt.1 + 4 783 c.488G>A c.(487-489)gGt>gAt p.G163D CASC3_uc010cws.1_Missense_Mutation_p.G163D|CASC3_uc002hue.3_Missense_Mutation_p.G163D NM_007359 NP_031385 O15234 CASC3_HUMAN Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA. 163 Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC. RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm RNA binding|identical protein binding|ubiquitin protein ligase binding p.V162V(1) endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 AACAAAGTGGGTAAAAAGGGC 0.463000 31 10 0 0 0.000442599 0 0 PDE10A 10846 broad.mit.edu 37 6 165756929 165756929 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:165756929G>A uc003qun.3 - 19 2263 c.2018C>T c.(2017-2019)cCc>cTc p.P673L PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.P603L|PDE10A_uc003quo.3_Missense_Mutation_p.P683L NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 673 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TTTTGTAACGGGCCACAGTTT 0.388000 55 9 0 0 0.000274275 0 0 EBF2 64641 broad.mit.edu 37 8 25708118 25708118 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:25708118C>T uc003xes.2 - 14 1953 c.1688G>A c.(1687-1689)gGa>gAa p.G563E DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript NM_022659 NP_073150 Q9HAK2 COE2_HUMAN Homo sapiens early B-cell factor 2 (EBF2), mRNA. 563 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.G563R(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) ACCTCTGAATCCATTTCCATT 0.488000 79 17 0 0 0.000175454 0 0 PTPRH 5794 broad.mit.edu 37 19 55718140 55718140 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:55718140C>T uc002qjq.3 - 2 342 c.269G>A c.(268-270)gGa>gAa p.G90E PTPRH_uc010esv.3_Missense_Mutation_p.G90E|PTPRH_uc002qjs.2_Missense_Mutation_p.G97E NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 90 Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGACCCGGGTCCAAGGCCATC 0.542000 56 9 0 0 0.000274275 0 0 APOB 338 broad.mit.edu 37 2 21231507 21231507 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:21231507G>A uc002red.3 - 25 8361 c.8233C>T c.(8233-8235)Cac>Tac p.H2745Y NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2745 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGTGAGATGTGGGGAAGCTGG 0.393000 420 75 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). 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.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 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 60 14 0 0 0.000308642 0 0 SORBS2 8470 broad.mit.edu 37 4 186548051 186548051 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:186548051C>T uc003iyg.3 - 11 1231 c.1199G>A c.(1198-1200)gGa>gAa p.G400E SORBS2_uc003iyh.3_Missense_Mutation_p.G537E|SORBS2_uc011ckw.2_Missense_Mutation_p.G374E|SORBS2_uc003iyi.3_Missense_Mutation_p.G444E|SORBS2_uc011ckx.2_Missense_Mutation_p.G379E|SORBS2_uc003iyk.3_Missense_Mutation_p.G357E|SORBS2_uc003iym.3_Missense_Mutation_p.G386E|SORBS2_uc003iyl.3_Missense_Mutation_p.G286E|SORBS2_uc003iyn.1_Missense_Mutation_p.G404E|SORBS2_uc011cky.1_Missense_Mutation_p.G349E|SORBS2_uc011cku.2_Missense_Mutation_p.G205E|SORBS2_uc011ckv.2_Missense_Mutation_p.G190E|SORBS2_uc003iyd.3_Missense_Mutation_p.G512E|SORBS2_uc003iye.3_Missense_Mutation_p.G386E|SORBS2_uc003iya.3_Missense_Mutation_p.G333E|SORBS2_uc003iyb.3_Missense_Mutation_p.G286E|SORBS2_uc003iyc.3_Missense_Mutation_p.G266E|SORBS2_uc003iyf.3_Missense_Mutation_p.G349E|SORBS2_uc003iyo.1_Missense_Mutation_p.G262E NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 286 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGTGCTTGATCCTGGGAGGTC 0.512000 91 15 0 0 0.000308642 0 0 PARP12 64761 broad.mit.edu 37 7 139757831 139757831 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:139757831C>T uc003vvl.1 - 1 1204 c.330G>A c.(328-330)aaG>aaA p.K110K PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 110 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) TCCTACAGTTCTTCCTGCAAA 0.458000 76 8 0 0 0.000442599 0 0 PTCHD2 57540 broad.mit.edu 37 1 11595556 11595556 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:11595556C>T uc001ash.4 + 19 3809 c.3671C>T c.(3670-3672)aCc>aTc p.T1224I NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 1224 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 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) CTGGTGGTGACCATCATGTAC 0.642000 59 9 0 0 0.000442599 0 0 THRB 7068 broad.mit.edu 37 3 24231676 24231676 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:24231676G>A uc003ccz.4 - 5 692 c.172C>T c.(172-174)Ctc>Ttc p.L58F THRB_uc010hfe.3_Missense_Mutation_p.L58F|THRB_uc003ccy.4_Missense_Mutation_p.L58F|THRB_uc003ccx.4_Missense_Mutation_p.L58F|THRB_uc003cdc.3_Missense_Mutation_p.L53F|THRB_uc003cdd.3_Missense_Mutation_p.L53F|THRB_uc003cde.1_Missense_Mutation_p.L53F|THRB_uc021wuc.1_Missense_Mutation_p.L53F NM_001252634 NP_001239563 P10828 THB_HUMAN Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA. 58 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTGGATGAGATGTGGCGAC 0.498000 71 6 0 0 0.000157383 0 0 KANK4 163782 broad.mit.edu 37 1 62740493 62740493 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:62740493C>T uc001dah.4 - 2 660 c.283G>A c.(283-285)Gtg>Atg p.V95M KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA. 95 p.V95V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TCCCTTGGCACCACGGGAGAC 0.607000 62 25 0 0 0.000375601 0 0 CLMP 79827 broad.mit.edu 37 11 122955359 122955359 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:122955359C>T uc001pyt.3 - 2 608 c.249G>A c.(247-249)gtG>gtA p.V83V NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN Homo sapiens CXADR-like membrane protein (CLMP), mRNA. 83 Ig-like C2-type 1. integral to membrane|tight junction endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 14 AAGCAAAGGCCACTCGGCCCT 0.507000 52 9 0 0 0.000442599 0 0 OR51B5 282763 broad.mit.edu 37 11 5363896 5363896 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:5363896G>A uc001map.1 - 0 859 c.859C>T c.(859-861)Cct>Tct p.P287S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.P287S NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATGTTATAGGATTCATTAGT 0.393000 49 5 0 0 3.59834e-05 0 0 ACSF2 80221 broad.mit.edu 37 17 48549854 48549854 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:48549854C>T uc010wmm.1 + 12 1568 c.1464C>T c.(1462-1464)atC>atT p.I488I ACSF2_uc002iqu.2_Silent_p.I463I|ACSF2_uc010wml.1_Silent_p.I420I|ACSF2_uc010wmn.1_Silent_p.I450I|ACSF2_uc010wmo.1_Silent_p.I303I|ACSF2_uc010dbt.1_Intron NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA. 463 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AGCTGTGCATCCGAGGGTACT 0.602000 21 11 0 0 6.40141e-05 0 0 CPQ 10404 broad.mit.edu 37 8 97892129 97892129 + Missense_Mutation SNP G T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:97892129G>T uc003yhw.3 + 3 911 c.745G>T c.(745-747)Ggg>Tgg p.G249W CPQ_uc010mbe.2_Missense_Mutation_p.G249W NM_016134 NP_057218 Q9Y646 PGCP_HUMAN Homo sapiens plasma glutamate carboxypeptidase (PGCP), mRNA. 249 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity GGCTTCTCATGGGATCAAAAT 0.453000 199 8 0.000673444 0.00932853 0.000673444 1 0 OR8D2 283160 broad.mit.edu 37 11 124189545 124189545 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:124189545G>A uc010sah.2 - 0 549 c.549C>T c.(547-549)ccC>ccT p.P183P NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) GAGTCAATAAGGGGAGAATAT 0.448000 57 5 0 0 0.000602214 0 0 ZNF506 440515 broad.mit.edu 37 19 19906068 19906068 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:19906068A>G uc010eci.2 - 3 776 c.628T>C c.(628-630)Tat>Cat p.Y210H ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y178H NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA. 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 GACTGCTTATAGGCTTTACCA 0.373000 22 11 0 0 6.40141e-05 0 0 LIM2 3982 broad.mit.edu 37 19 51883823 51883823 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:51883823C>T uc002pwl.2 - 3 566 c.522G>A c.(520-522)ggG>ggA p.G174G LIM2_uc002pwm.2_Silent_p.G132G NM_030657 NP_085915 P55344 LMIP_HUMAN Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA. 132 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens p.G174K(1) endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) AGCGCCAGTCCCCAAAGCGGC 0.632000 76 16 0 0 0.000132079 0 0 SDHAP1 255812 broad.mit.edu 37 3 195692347 195692347 + Missense_Mutation SNP G A A rs62282794 by1000genomes TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:195692347G>A uc003fvy.3 - 2 310 c.196C>T c.(196-198)Cac>Tac p.H66Y SDHAP1_uc003fvx.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA. TTCCTCCAGTGCTCCTCAAAG 0.572000 25 5 0 0 3.59834e-05 0 0 MOV10L1 54456 broad.mit.edu 37 22 50584155 50584155 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr22:50584155G>A uc003bjj.3 + 18 2626 c.2543G>A c.(2542-2544)gGa>gAa p.G848E MOV10L1_uc003bjk.4_Missense_Mutation_p.G848E|MOV10L1_uc011arp.2_Missense_Mutation_p.G828E|MOV10L1_uc003bjl.3_5'Flank NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 848 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding p.G848*(1) breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGCAGAGACGGAGAAGACATC 0.498000 80 12 0 0 0.00010058 0 0 DDB1 1642 broad.mit.edu 37 11 61094298 61094298 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:61094298G>A uc001nrc.4 - 4 843 c.617C>T c.(616-618)cCt>cTt p.P206L DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.P206L|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.P206L|DDB1_uc009ynl.1_Missense_Mutation_p.P93L NM_001923 NP_001914 Q16531 DDB1_HUMAN Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA. 206 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGTTTCCAAGGGCCCTTATT 0.517000 Nucleotide excision repair (NER) 168 22 0 0 0.000878237 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021673 51021673 + Nonsense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:51021673G>A uc002pss.3 - 2 1434 c.1297C>T c.(1297-1299)Cag>Tag p.Q433* NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA. 433 Ig-like C2-type. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CACGTGTACTGGCCCGTGTCC 0.677000 57 7 0 0 0.000442599 0 0 SAA1 6288 broad.mit.edu 37 11 18290771 18290771 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:18290771G>A uc021qem.1 + 3 222 c.121G>A c.(121-123)Gac>Aac p.D41N SAA1_uc021qen.1_Missense_Mutation_p.D41N|SAA1_uc021qeo.1_Missense_Mutation_p.D41N NM_001178006 NP_954630 P02735 SAA_HUMAN Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA. 41 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCCTACTCTGACATGAGAGA 0.527000 43 6 0 0 0.000157383 0 0 ANK2 287 broad.mit.edu 37 4 114279286 114279286 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:114279286C>T uc003ibe.4 + 37 9612 c.9512C>T c.(9511-9513)tCa>tTa p.S3171L ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S3186L NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3138 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTTTCAGAATCAAAAGAAACA 0.478000 33 7 0 0 8.12818e-05 0 0 OR13F1 138805 broad.mit.edu 37 9 107267206 107267206 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:107267206C>T uc011lvm.2 + 0 663 c.663C>T c.(661-663)atC>atT p.I221I NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGCATTTATCCTCGCCAGTA 0.473000 110 6 0 0 3.59834e-05 0 0 SLC25A13 10165 broad.mit.edu 37 7 95761116 95761117 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:95761116_95761117GG>AA uc003uog.4 - 14 1723_1724 c.1532_1533CC>TT c.(1531-1533)tcc>tTT p.S511F SLC25A13_uc003uof.4_Missense_Mutation_p.S510F|SLC25A13_uc011kik.2_Missense_Mutation_p.S402F NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 510 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) CATTTGCAAAGGAAGCCTTCAC 0.515000 35 9 0 0 6.4e-05 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839230 100839230 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:100839230G>A uc003uyc.3 - 6 1190 c.1023C>T c.(1021-1023)atC>atT p.I341I MOGAT3_uc010lhr.3_Silent_p.L274L NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA. 341 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCCAGGCCTAGATGAAGGTGA 0.602000 66 9 0 0 0.000442599 0 0 KAT6B 23522 broad.mit.edu 37 10 76729810 76729810 + Silent SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:76729810A>G uc001jwn.1 + 5 1372 c.879A>G c.(877-879)agA>agG p.R293R KAT6B_uc001jwm.1_Silent_p.R293R|KAT6B_uc001jwo.1_Silent_p.R293R|KAT6B_uc001jwp.1_Silent_p.R293R NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 293 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CCTGTGATAGAGGATTTCATA 0.323000 32 10 0 0 0.000673444 0 0 LOC440041 440041 broad.mit.edu 37 11 55063004 55063004 + RNA SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:55063004C>T uc021qjb.1 - 2 c.634G>A LOC440041_uc001nhl.1_Non-coding_Transcript Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA. CTTAAAAGCTCCCTGGAATGT 0.428000 18 4 0 0 0.000602214 0 0 TTN 7273 broad.mit.edu 37 2 179450006 179450006 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:179450006G>A uc021vsy.1 - 257 56986 c.56761C>T c.(56761-56763)Cat>Tat p.H18921Y MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H12616Y|TTN_uc021vta.1_Missense_Mutation_p.H12549Y|TTN_uc021vtb.1_Missense_Mutation_p.H12424Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19848 Ig-like 107. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATACACATGGGCTTCAATT 0.413000 185 38 0 0 0.000814825 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173898662 173898662 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:173898662G>A uc002uhv.4 + 26 2857 c.2670G>A c.(2668-2670)aaG>aaA p.K890K RAPGEF4_uc002uhw.4_Silent_p.K746K NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA. 890 Ras-GEF. G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) GCAAGTTCAAGAAGTTCTATG 0.358000 53 11 0 0 0.000673444 0 0 ZNF582 147948 broad.mit.edu 37 19 56896026 56896026 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:56896026G>A uc002qmy.3 - 4 1146 c.853C>T c.(853-855)Ccg>Tcg p.P285S ZNF582_uc002qmz.1_Missense_Mutation_p.P254S NM_144690 NP_653291 Q96NG8 ZN582_HUMAN Homo sapiens zinc finger protein 582 (ZNF582), mRNA. 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CATTCATACGGTTTCTCACCA 0.398000 36 6 0 0 3.59834e-05 0 0 UROS 7390 broad.mit.edu 37 10 127486659 127486659 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:127486659G>A uc001liw.4 - 5 583 c.450C>T c.(448-450)atC>atT p.I150I UROS_uc001lix.4_Silent_p.I150I NM_000375 NP_000366 P10746 HEM4_HUMAN Homo sapiens uroporphyrinogen III synthase (UROS), mRNA. 150 heme biosynthetic process|uroporphyrinogen III biosynthetic process cytosol|mitochondrion uroporphyrinogen-III synthase activity endometrium(2)|large_intestine(2)|lung(2)|skin(1) 7 all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203) CTTTTGGCAGGATTTCTCTTT 0.493000 42 8 0 0 6.40141e-05 0 0 NEXN 91624 broad.mit.edu 37 1 78383922 78383922 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:78383922G>A uc001dic.4 + 4 708 c.411G>A c.(409-411)agG>agA p.R137R NEXN_uc001dia.3_Silent_p.R137R|NEXN_uc009wcb.1_Silent_p.R73R|NEXN_uc001dib.4_Silent_p.R73R|NEXN_uc001did.1_Silent_p.R61R|NEXN_uc001dif.1_Silent_p.R29R NM_144573 NP_653174 Q0ZGT2 NEXN_HUMAN Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. 137 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization Z disc|cytoskeleton actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) TAGAAAAGAGGAAAATACAGC 0.378000 44 7 0 0 8.12818e-05 0 0 MAGI3 260425 broad.mit.edu 37 1 114165587 114165587 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:114165587C>T uc001edk.3 + 8 1512 c.1331C>T c.(1330-1332)cCc>cTc p.P444L MAGI3_uc001edh.3_Missense_Mutation_p.P469L|MAGI3_uc001edi.4_Missense_Mutation_p.P444L|MAGI3_uc010owm.2_Missense_Mutation_p.P469L|MAGI3_uc001edj.3_Missense_Mutation_p.P165L NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 469 Interaction with PTEN.|PDZ 2. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAAGATGGTCCCGCAGCTCAG 0.343000 29 4 0 0 0.00024832 0 0 KCNQ5 56479 broad.mit.edu 37 6 73905118 73905118 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:73905118C>T uc011dyh.2 + 14 3184 c.2837C>T c.(2836-2838)cCt>cTt p.P946L KCNQ5_uc011dyi.2_Missense_Mutation_p.P937L|KCNQ5_uc010kat.3_Missense_Mutation_p.P918L|KCNQ5_uc003pgk.3_Missense_Mutation_p.P927L|KCNQ5_uc011dyj.2_Missense_Mutation_p.P817L|KCNQ5_uc011dyk.2_Missense_Mutation_p.P677L NM_001160133 NP_001153605 Q9NR82 KCNQ5_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA. 927 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTCAGCTTGCCTCATGTCAAA 0.423000 66 15 0 0 0.000219431 0 0 DNAJC8 22826 broad.mit.edu 37 1 28536526 28536526 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:28536526G>A uc001bpn.3 - 4 389 c.356C>T c.(355-357)gCc>gTc p.A119V DNAJC8_uc001bpo.3_Non-coding_Transcript NM_014280 NP_055095 O75937 DNJC8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 8 (DNAJC8), mRNA. 119 J. nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) TACATCCAGGGCCCTCTTCTT 0.428000 34 11 0 0 0.000219431 0 0 KBTBD8 84541 broad.mit.edu 37 3 67058562 67058562 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:67058562C>T uc003dmy.3 + 3 1612 c.1559C>T c.(1558-1560)tCc>tTc p.S520F KBTBD8_uc011bfv.2_Missense_Mutation_p.S78F NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 520 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) TGTGATCAGTCCATAAATCCA 0.388000 79 15 0 0 0.000219431 0 0 ABCA11P 79963 broad.mit.edu 37 4 436857 436857 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:436857G>A uc003gaf.4 - 2 1721 c.1495C>T c.(1495-1497)Cat>Tat p.H499Y ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H467Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H455Y NM_133474 NP_597731 Homo sapiens zinc finger protein 721 (ZNF721), mRNA. TTTCCAGTATGAATTTTCTCA 0.358000 46 6 0 0 8.12818e-05 0 0 SLC45A4 57210 broad.mit.edu 37 8 142221565 142221565 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:142221565C>T uc003ywd.1 - 7 2681 c.2373G>A c.(2371-2373)ccG>ccA p.P791P SLC45A4_uc022bbx.1_5'Flank|SLC45A4_uc003ywc.1_3'UTR|SLC45A4_uc010meq.1_3'UTR NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 0 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCAGGCCCCCCGGACCAGCCT 0.647000 77 10 0 0 0.000442599 0 0 LOC401010 401010 broad.mit.edu 37 2 132201832 132201832 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:132201832G>A uc002tst.2 - 0 636 c.170C>T c.(169-171)aCc>aTc p.T57I Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. GATGCAGAAGGTGACCAGAGC 0.577000 28 5 0 0 8.12818e-05 0 0 MMD2 221938 broad.mit.edu 37 7 4947052 4947052 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:4947052G>A uc003sno.4 - 6 984 c.788C>T c.(787-789)aCc>aTc p.T263I MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.T239I|MMD2_uc010ksq.3_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA. 263 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) GGTCTGCAGGGTGCTGGGCAG 0.542000 70 16 0 0 0.000175454 0 0 FAM3B 54097 broad.mit.edu 37 21 42720634 42720634 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr21:42720634G>A uc002yzb.1 + 6 747 c.601G>A c.(601-603)Gaa>Aaa p.E201K FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Missense_Mutation_p.E153K NM_058186 NP_478066 P58499 FAM3B_HUMAN Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA. 201 apoptosis|insulin secretion extracellular space cytokine activity central_nervous_system(2)|endometrium(1)|lung(2) 5 Prostate(19;1.57e-07)|all_epithelial(19;0.0404) ACTCCCTTCCGAAATTCAGAG 0.413000 43 10 0 0 0.000442599 0 0 SI 6476 broad.mit.edu 37 3 164735612 164735612 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:164735612C>T uc003fei.3 - 29 3633 c.3570G>A c.(3568-3570)ggG>ggA p.G1190G NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1190 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AATCCAAGATCCCTCCAACTG 0.333000 HNSCC(35;0.089) 25 6 0 0 0.000157383 0 0 CLVS2 134829 broad.mit.edu 37 6 123319073 123319073 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:123319073G>A uc003pzi.1 + 1 1020 c.151G>A c.(151-153)Gat>Aat p.D51N NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 51 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 GCGCACGGATGATGCCTTCAT 0.557000 58 12 0 0 0.00010058 0 0 PKD1 5310 broad.mit.edu 37 16 2159259 2159259 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:2159259G>A uc002cos.1 - 14 6118 c.5909C>T c.(5908-5910)gCc>gTc p.A1970V TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A1970V NM_001009944 NP_001009944 P98161 PKD1_HUMAN Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA. 1970 PKD 15. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CCCACTCACGGCCTCCAGCAC 0.697000 32 6 0 0 3.59834e-05 0 0 FGFR2 2263 broad.mit.edu 37 10 123298196 123298196 + Missense_Mutation SNP T A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:123298196T>A uc021pzz.1 - 5 1305 c.658A>T c.(658-660)Agt>Tgt p.S220C FGFR2_uc021pzv.1_Missense_Mutation_p.S220C|FGFR2_uc021pzw.1_Missense_Mutation_p.S105C|FGFR2_uc021pzx.1_Missense_Mutation_p.S131C|FGFR2_uc021pzy.1_Missense_Mutation_p.S220C|FGFR2_uc010qtl.2_Missense_Mutation_p.S220C|FGFR2_uc010qtm.2_Missense_Mutation_p.S105C|FGFR2_uc021qaa.1_Missense_Mutation_p.S220C|FGFR2_uc021qab.1_Missense_Mutation_p.S131C|FGFR2_uc021qac.1_Missense_Mutation_p.S150C|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.S239C|FGFR2_uc010qto.2_Missense_Mutation_p.S124C|FGFR2_uc001lfo.1_Missense_Mutation_p.S239C|FGFR2_uc010qtp.2_Missense_Mutation_p.S239C|FGFR2_uc010qtq.2_Missense_Mutation_p.S239C NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 220 Ig-like C2-type 2. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.E219K(1) breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGGACCACACTTTCCATAATG 0.448000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 34 7 0 0 0.000157383 0 0 JAZF1 221895 broad.mit.edu 37 7 27880461 27880461 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:27880461C>T uc003szn.3 - 3 652 c.411G>A c.(409-411)gtG>gtA p.V137V JAZF1_uc003szm.3_Silent_p.V73V NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA. 137 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 CCTCATAGTCCACCTCCTCCT 0.582000 T SUZ12 endometrial stromal tumours 256 35 0 0 0.000228196 0 0 MUC16 94025 broad.mit.edu 37 19 9085769 9085769 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:9085769G>A uc002mkp.3 - 0 6250 c.6046C>T c.(6046-6048)Cat>Tat p.H2016Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2016 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAATTCTCATGGGTAGGGGAA 0.463000 64 8 0 0 0.000274275 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709668 128709668 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:128709668C>T uc001qeo.1 - 1 579 c.528G>A c.(526-528)ggG>ggA p.G176G KCNJ1_uc001qep.1_Silent_p.G157G|KCNJ1_uc001qeq.1_Silent_p.G157G|KCNJ1_uc001qer.1_Silent_p.G157G|KCNJ1_uc001qes.1_Silent_p.G157G|KCNJ1_uc021qsb.1_Silent_p.G157G NM_000220 NP_000211 P48048 IRK1_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA. 176 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CTAAGATGGCCCCACACATGA 0.463000 71 7 0 0 0.000442599 0 0 FAM124B 79843 broad.mit.edu 37 2 225266283 225266283 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:225266283G>A uc002vnx.3 - 0 429 c.203C>T c.(202-204)tCc>tTc p.S68F FAM124B_uc002vnw.3_Missense_Mutation_p.S68F NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA. 68 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GAGCAACACGGACATCCCTGG 0.572000 30 8 0 0 0.000274275 0 0 C15orf60 283677 broad.mit.edu 37 15 73843312 73843312 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:73843312G>A uc002avq.3 + 3 395 c.367G>A c.(367-369)Gga>Aga p.G123R C15orf60_uc010bjb.3_Missense_Mutation_p.G95R NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA. 123 endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2) 17 ACAGTTCAGTGGAGAGTCAAA 0.468000 73 5 0 0 8.12818e-05 0 0 KCNB2 9312 broad.mit.edu 37 8 73849879 73849879 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:73849879G>A uc003xzb.3 + 2 2877 c.2289G>A c.(2287-2289)caG>caA p.Q763Q NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 763 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.Q763H(2)|p.Q763K(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCCCCTCCCAGGGAGACAGAC 0.582000 70 14 0 0 0.000219431 0 0 KRT34 3885 broad.mit.edu 37 17 39535984 39535984 + Splice_Site SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:39535984C>T uc002hwm.3 - 4 727 c.715_splice c.e4-1 p.E239_splice NM_021013 NP_066293 O76011 KRT34_HUMAN Homo sapiens keratin 34 (KRT34), mRNA. 239 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) TGTTAACCTCCTGTTGGAGAA 0.532000 20 6 0 0 0.000157383 0 0 HOXA4 3201 broad.mit.edu 37 7 27169083 27169084 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:27169083_27169084GG>AA uc003sym.4 - 1 770_771 c.723_724CC>TT c.(721-726)acccgg>acTTgg p.R242W HOXA3_uc003syk.3_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN Homo sapiens homeobox A4 (HOXA4), mRNA. 242 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6) 12 CGGCGCCGCCGGGTCAGGTATC 0.574000 62 9 0 0 6.4e-05 0 0 CHL1 10752 broad.mit.edu 37 3 407673 407673 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:407673C>T uc003bot.3 + 14 2268 c.1626C>T c.(1624-1626)atC>atT p.I542I CHL1_uc003bou.3_Silent_p.I526I|CHL1_uc003bow.2_Silent_p.I526I|CHL1_uc011asi.2_Silent_p.I542I|BC065754_uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 526 Ig-like C2-type 6. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATCCTCGTATCCCCAAATTGC 0.343000 33 7 0 0 0.000157383 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156914849 156914849 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:156914849G>A uc001fqo.3 - 28 3873 c.2833C>T c.(2833-2835)Ctg>Ttg p.L945L ARHGEF11_uc010phu.2_Silent_p.L361L|ARHGEF11_uc001fqn.3_Silent_p.L985L NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 945 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCCTCTCCAGGGCGGTGGCA 0.567000 131 8 0 0 0.000442599 0 0 ARMC4 55130 broad.mit.edu 37 10 28225794 28225794 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:28225794C>T uc009xky.3 - 14 2211 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K ARMC4_uc010qds.2_Missense_Mutation_p.E230K|ARMC4_uc010qdt.2_Missense_Mutation_p.E397K|ARMC4_uc001itz.3_Missense_Mutation_p.E705K NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 705 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TCCCGGGTTTCCTTATCTTCA 0.488000 49 12 0 0 0.000151284 0 0 FAM83A 84985 broad.mit.edu 37 8 124195487 124195487 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:124195487G>A uc003ypv.3 + 1 2405 c.391G>A c.(391-393)Gaa>Aaa p.E131K FAM83A_uc003ypw.3_Missense_Mutation_p.E131K|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Missense_Mutation_p.E131K|FAM83A_uc003ypy.3_Missense_Mutation_p.E131K|FAM83A_uc003ypz.3_Missense_Mutation_p.E131K NM_032899 NP_116288 Q86UY5 FA83A_HUMAN Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA. 131 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTACCTGAAGGAAAAATCCAG 0.612000 63 9 0 0 0.000274275 0 0 ETV1 2115 broad.mit.edu 37 7 13949261 13949261 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:13949261G>A uc021zzz.1 - 8 1023 c.936C>T c.(934-936)ttC>ttT p.F312F ETV1_uc021zzt.1_Silent_p.F272F|ETV1_uc021zzu.1_Silent_p.F209F|ETV1_uc021zzv.1_Silent_p.F254F|ETV1_uc021zzw.1_Missense_Mutation_p.S272L|ETV1_uc021zzx.1_Missense_Mutation_p.S209L|ETV1_uc021zzy.1_Missense_Mutation_p.S254L|ETV1_uc022aaa.1_Silent_p.F294F|ETV1_uc022aab.1_Missense_Mutation_p.S312L|ETV1_uc003ssw.4_Silent_p.F289F|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_Missense_Mutation_p.S294L|ETV1_uc022aad.1_Missense_Mutation_p.S294L|ETV1_uc010ktv.3_Missense_Mutation_p.S181L NM_004956 NP_004947 P50549 ETV1_HUMAN Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA. 312 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACCTACCATCGAATTTTTCTG 0.383000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 136 16 0 0 0.000958276 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528505 65528505 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:65528505C>T uc003xvj.2 - 2 797 c.593G>A c.(592-594)gGa>gAa p.G198E NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 198 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATAACTTTTCCATATATAGT 0.328000 51 11 0 0 6.40141e-05 0 0 DRP2 1821 broad.mit.edu 37 X 100511121 100511121 + Missense_Mutation SNP A T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:100511121A>T uc004egz.2 + 20 2630 c.2261A>T c.(2260-2262)tAc>tTc p.Y754F DRP2_uc011mrh.1_Missense_Mutation_p.Y676F NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 754 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 GAGGACCAGTACCTGCTGCGG 0.577000 36 19 0 0 0.000229342 0 0 NLRP12 91662 broad.mit.edu 37 19 54304614 54304614 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:54304614C>T uc002qcj.4 - 6 2846 c.2626G>A c.(2626-2628)Gag>Aag p.E876K NLRP12_uc010eqw.3_Missense_Mutation_p.E158K|NLRP12_uc002qch.4_Missense_Mutation_p.E875K|NLRP12_uc002qci.4_Missense_Mutation_p.E875K|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 875 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.E875*(2) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAGGCCAGCTCGTCACAGGCA 0.527000 42 7 0 0 8.12818e-05 0 0 ZAN 7455 broad.mit.edu 37 7 100361534 100361534 + Silent SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:100361534A>G uc003uwj.3 + 20 4257 c.4092A>G c.(4090-4092)ccA>ccG p.P1364P ZAN_uc003uwk.3_Silent_p.P1364P|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 1364 VWFD 1. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTCATGGCCCATTTGAGTATG 0.592000 79 6 0 0 3.59834e-05 0 0 TET3 200424 broad.mit.edu 37 2 74274273 74274273 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:74274273C>T uc002skb.4 + 0 824 c.824C>T c.(823-825)cCt>cTt p.P275L TET3_uc010fez.2_Missense_Mutation_p.P275L NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 275 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTGTGGTTCCTCCTGAAGAG 0.592000 53 9 0 0 0.000673444 0 0 NBEAL1 65065 broad.mit.edu 37 2 204037456 204037457 + Missense_Mutation DNP CC AA AA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:204037456_204037457CC>AA uc002uzt.3 + 39 6449_6450 c.6116_6117CC>AA c.(6115-6117)ccc>cAA p.P2039Q NBEAL1_uc021vvj.1_Missense_Mutation_p.P742Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA. 2039 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTTTAGTTTCCCTGGATTTTAC 0.337000 328 10 0 0 6.4e-05 0 0 DENND2C 163259 broad.mit.edu 37 1 115144803 115144803 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:115144803G>A uc001efd.1 - 11 2382 c.1680C>T c.(1678-1680)tcC>tcT p.S560S DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.S503S NM_198459 NP_940861 Q68D51 DEN2C_HUMAN Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA. 560 UDENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAAGACAAAGGAGAATGTTT 0.388000 47 6 0 0 3.59834e-05 0 0 MFNG 4242 broad.mit.edu 37 22 37876777 37876777 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr22:37876777C>T uc003ass.2 - 1 549 c.286G>A c.(286-288)Ggc>Agc p.G96S MFNG_uc011anj.2_Intron|MFNG_uc011ani.2_Intron|CARD10_uc003ast.1_Non-coding_Transcript NM_002405 NP_002396 O00587 MFNG_HUMAN Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA. 96 pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity large_intestine(2)|lung(2)|skin(1) 5 Melanoma(58;0.0574) TCCTGGAGGCCTTTGTCTGGG 0.617000 15 4 0 0 0.00024832 0 0 FLNB 2317 broad.mit.edu 37 3 58084611 58084611 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:58084611C>T uc003djj.2 + 7 1486 c.1321C>T c.(1321-1323)Ccc>Tcc p.P441S FLNB_uc010hne.2_Missense_Mutation_p.P441S|FLNB_uc003djk.2_Missense_Mutation_p.P441S|FLNB_uc010hnf.2_Missense_Mutation_p.P441S|FLNB_uc003djl.2_Missense_Mutation_p.P272S|FLNB_uc003djm.2_Missense_Mutation_p.P272S NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 441 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCCTAAGAGTCCCTTCGTTGT 0.547000 44 11 0 0 6.40141e-05 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111768813 111768813 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:111768813C>T uc010hqb.2 + 5 874 c.704C>T c.(703-705)cCa>cTa p.P235L TMPRSS7_uc011bhr.1_Missense_Mutation_p.P90L NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 361 proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity p.V235I(1) breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GAGGTCATTCCAGAACAAAGT 0.353000 62 7 0 0 0.000274275 0 0 KIF4A 24137 broad.mit.edu 37 X 69615626 69615626 + Missense_Mutation SNP C G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:69615626C>G uc004dyg.3 + 20 2481 c.2338C>G c.(2338-2340)Caa>Gaa p.Q780E KIF4A_uc010nkw.3_Missense_Mutation_p.Q780E NM_012310 NP_036442 O95239 KIF4A_HUMAN Homo sapiens kinesin family member 4A (KIF4A), mRNA. 780 Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 AGATGTGGCTCAACTCAAAGA 0.433000 12 7 0 0 8.12818e-05 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484180 45484180 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:45484180C>T uc001cnd.2 - 13 3732 c.3504G>A c.(3502-3504)caG>caA p.Q1168Q NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 1168 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CTTTGTAGATCTGTTTGAGGT 0.532000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 115 21 0 0 0.000295444 0 0 CNOT10 25904 broad.mit.edu 37 3 32776307 32776307 + Silent SNP G A A rs147797250 by1000genomes TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:32776307G>A uc011axj.1 + 11 1610 c.1533G>A c.(1531-1533)tcG>tcA p.S511S CNOT10_uc011axi.1_Silent_p.S223S|CNOT10_uc003cfc.1_Silent_p.S451S|CNOT10_uc003cfd.1_Silent_p.S450S|CNOT10_uc003cfe.1_Silent_p.S451S|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Silent_p.S146S NM_015442 NP_056257 Q9H9A5 CNOTA_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA. 451 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 GGCAGTCTTCGGCCATTCCTG 0.383000 169 30 0 0 0.00058488 0 0 SV2B 9899 broad.mit.edu 37 15 91795180 91795180 + Missense_Mutation SNP G C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:91795180G>C uc002bqv.3 + 3 1474 c.583G>C c.(583-585)Gtg>Ctg p.V195L SV2B_uc002bqt.3_Missense_Mutation_p.V195L|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.V44L NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA. 195 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTCTTCCTTCGTGCAGGGATA 0.587000 231 31 0 0 0.000953801 0 0 RPS7 6201 broad.mit.edu 37 2 3627805 3627805 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:3627805A>G uc002qxw.3 + 5 568 c.462A>G c.(460-462)atA>atG p.I154M RPS7_uc002qxy.3_Non-coding_Transcript NM_001011 NP_001002 P62081 RS7_HUMAN Homo sapiens ribosomal protein S7 (RPS7), mRNA. 154 endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome RNA binding|protein binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) GCCGGCTCATAAAGGTTCATT 0.468000 58 10 0 0 0.000673444 0 0 MIA3 375056 broad.mit.edu 37 1 222803033 222803033 + Missense_Mutation SNP C A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:222803033C>A uc001hnl.3 + 3 2480 c.2471C>A c.(2470-2472)cCa>cAa p.P824Q MIA3_uc009xea.1_Missense_Mutation_p.P660Q NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA. 824 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) GCACAGAGACCATTTGAACGA 0.423000 400 11 0.000673444 0.00932853 0.000673444 1 0 HCK 3055 broad.mit.edu 37 20 30667604 30667604 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr20:30667604G>A uc002wxh.3 + 5 693 c.456G>A c.(454-456)aaG>aaA p.K152K HCK_uc010gdy.3_Silent_p.K132K|HCK_uc021wbv.1_Silent_p.K131K|HCK_uc002wxi.3_Silent_p.K130K NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 152 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCAGCCGGAAGGACGCAGAGC 0.587000 34 5 0 0 3.59834e-05 0 0 ESR2 2100 broad.mit.edu 37 14 64749369 64749369 + Missense_Mutation SNP G A A rs141516067 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:64749369G>A uc001xha.1 - 1 803 c.335C>T c.(334-336)tCg>tTg p.S112L ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L NM_001437 NP_001428 Q92731 ESR2_HUMAN Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA. 112 Modulating. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GTGTTCTAGCGATCTTGCTTC 0.448000 41 12 0 0 0.00010058 0 0 MPP3 4356 broad.mit.edu 37 17 41891690 41891690 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:41891690C>T uc002ieh.3 - 12 1385 c.1124G>A c.(1123-1125)aGa>aAa p.R375K MPP3_uc002iei.4_Missense_Mutation_p.R350K|MPP3_uc002iej.3_Non-coding_Transcript NM_001932 NP_001923 Q13368 MPP3_HUMAN Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA. 350 signal transduction cell surface|integral to plasma membrane guanylate kinase activity endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) GCCACCCAGTCTCTCCCTACA 0.617000 54 12 0 0 0.000151284 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033313 95033313 + Nonsense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:95033313G>A uc010avd.3 + 2 1041 c.767G>A c.(766-768)tGg>tAg p.W256* SERPINA4_uc001ydk.3_Nonsense_Mutation_p.W219*|SERPINA4_uc001ydl.3_Nonsense_Mutation_p.W219* NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 219 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TCAGCCCTGTGGGAGAAACCA 0.517000 48 9 0 0 0.00010058 0 0 WDFY3 23001 broad.mit.edu 37 4 85731300 85731300 + Silent SNP T G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:85731300T>G uc003hpd.3 - 13 2493 c.2085A>C c.(2083-2085)gcA>gcC p.A695A WDFY3_uc003hpf.3_Silent_p.A695A NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 695 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CATAGCGCATTGCTGCAGTCA 0.448000 58 15 0 0 0.000219431 0 0 PRSS1 5644 broad.mit.edu 37 7 142460296 142460296 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:142460296G>A uc003wak.2 + 3 486 c.469G>A c.(469-471)Gag>Aag p.E157K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.E97K NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 157 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CTACCCAGACGAGCTGCAGTG 0.507000 234 25 0 0 0.000227799 0 0 CAMK4 814 broad.mit.edu 37 5 110819937 110819937 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:110819937G>A uc003kpf.3 + 10 1430 c.1195G>A c.(1195-1197)Gcc>Acc p.A399T CAMK4_uc010jbv.3_Missense_Mutation_p.A202T|CAMK4_uc003kpg.3_Missense_Mutation_p.A90T NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 399 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) GAAGGTGCAAGCCTTAGAGAA 0.512000 35 8 0 0 0.000274275 0 0 CADM2 253559 broad.mit.edu 37 3 85984998 85984998 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:85984998G>A uc003dql.3 + 5 761 c.761G>A c.(760-762)gGa>gAa p.G254E CADM2_uc003dqj.3_Missense_Mutation_p.G252E|CADM2_uc003dqk.3_Missense_Mutation_p.G261E|CADM2_uc003dqm.2_Missense_Mutation_p.G144E|CADM2_uc021xay.1_Missense_Mutation_p.G144E|CADM2_uc021xaz.1_Missense_Mutation_p.G144E|CADM2_uc021xba.1_Missense_Mutation_p.G144E NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 252 Ig-like C2-type 2. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GAATCCAAAGGAAAACCACTG 0.318000 125 19 0 0 0.000375601 0 0 AK5 26289 broad.mit.edu 37 1 77806157 77806157 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:77806157C>T uc001dhn.3 + 5 1132 c.795C>T c.(793-795)gaC>gaT p.D265D AK5_uc001dho.3_Silent_p.D239D NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 265 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 GCCGACCAGACGACAATGTAA 0.458000 72 11 0 0 6.40141e-05 0 0 MTMR3 8897 broad.mit.edu 37 22 30416562 30416562 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr22:30416562C>T uc003agv.4 + 16 3242 c.2914C>T c.(2914-2916)Cgt>Tgt p.R972C MTMR3_uc003agu.4_Missense_Mutation_p.R972C|MTMR3_uc003agw.4_Missense_Mutation_p.R972C NM_021090 NP_066576 Q13615 MTMR3_HUMAN Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA. 972 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)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CTCACTGAGCCGTCAGCTGTC 0.582000 43 9 0 0 6.40141e-05 0 0 FBXO24 26261 broad.mit.edu 37 7 100189493 100189493 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:100189493C>T uc011kjz.1 + 3 708 c.640C>T c.(640-642)Cgc>Tgc p.R214C FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R162C|FBXO24_uc003uvm.1_Missense_Mutation_p.R176C|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.R164C NM_012172 NP_036304 O75426 FBX24_HUMAN Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA. 176 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCGGGCCTGTCGCTATGTTGT 0.527000 55 11 0 0 6.40141e-05 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587978 68587978 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:68587978C>T uc003dnd.3 + 3 547 c.331C>T c.(331-333)Cct>Tct p.P111S FAM19A1_uc003dne.3_Missense_Mutation_p.P111S|FAM19A1_uc003dng.3_Missense_Mutation_p.P111S NM_001252216 NP_001239145 Q7Z5A9 F19A1_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA. 111 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) TAAGACACTCCCTGACAATTC 0.428000 63 9 0 0 0.000673444 0 0 PHF14 9678 broad.mit.edu 37 7 11101640 11101640 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:11101640A>G uc003sry.2 + 15 3034 c.2582A>G c.(2581-2583)aAg>aGg p.K861R PHF14_uc011jxi.2_Missense_Mutation_p.K576R|PHF14_uc011jxj.2_Missense_Mutation_p.K576R NM_014660 NP_055475 O94880 PHF14_HUMAN Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA. 861 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) TTGCAAAAGAAGCCCAAGGCT 0.368000 18 3 0 0 6.4e-05 0 0 OR13C8 138802 broad.mit.edu 37 9 107332092 107332092 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:107332092C>T uc011lvo.2 + 0 644 c.644C>T c.(643-645)tCc>tTc p.S215F NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTAGTAATTTCCATCTCTTAC 0.418000 78 26 0 0 0.000147802 0 0 JHDM1D 80853 broad.mit.edu 37 7 139796708 139796708 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:139796708G>A uc003vvm.3 - 15 2160 c.2156C>T c.(2155-2157)cCa>cTa p.P719L JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 719 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CCTTTTAATTGGAATTTCACT 0.303000 47 9 0 0 0.00010058 0 0 OR2A12 346525 broad.mit.edu 37 7 143792740 143792740 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:143792740C>T uc011kty.2 + 0 540 c.540C>T c.(538-540)atC>atT p.I180I NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TCTGTCAAATCATGTCCGTAT 0.483000 96 16 0 0 0.000308642 0 0 MED16 10025 broad.mit.edu 37 19 873506 873506 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:873506C>T uc002lqd.1 - 10 1999 c.1848G>A c.(1846-1848)caG>caA p.Q616Q MED16_uc010drw.2_Silent_p.Q441Q|MED16_uc002lqe.3_Silent_p.Q605Q|MED16_uc002lqf.3_Silent_p.Q605Q|MED16_uc010xfz.2_Non-coding_Transcript|MED16_uc010xfv.1_Non-coding_Transcript|MED16_uc010xfw.1_Silent_p.Q536Q|MED16_uc010xfx.1_Silent_p.Q461Q|MED16_uc010xfy.1_Silent_p.Q193Q NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN Homo sapiens mediator complex subunit 16 (MED16), mRNA. 616 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) ACTGCAAGAGCTGCTGCAGCG 0.612000 45 6 0 0 3.59834e-05 0 0 TCRBV21S1 0 broad.mit.edu 37 7 142223960 142223960 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:142223960C>T uc003vyi.2 - 1 224 c.207G>A c.(205-207)caG>caA p.Q69Q TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron SubName: Full=V_segment translation product; Flags: Fragment; CACTCTCATCCTGAAATTGAA 0.507000 35 7 0 0 8.12818e-05 0 0 GPR98 84059 broad.mit.edu 37 5 90072347 90072347 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:90072347C>T uc003kju.3 + 60 12577 c.12481C>T c.(12481-12483)Ctc>Ttc p.L4161F GPR98_uc003kjt.3_Missense_Mutation_p.L1867F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 4161 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGGCACATCCTCATTGGGGA 0.403000 49 8 0 0 0.000274275 0 0 OR51M1 390059 broad.mit.edu 37 11 5410752 5410752 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:5410752C>T uc010qzc.2 + 0 146 c.124C>T c.(124-126)Ccc>Tcc p.P42S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 42 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTTTCATCCCCTTTTTCTT 0.413000 99 6 0 0 3.59834e-05 0 0 APLF 200558 broad.mit.edu 37 2 68772353 68772353 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:68772353C>T uc002sep.3 + 7 1368 c.1195C>T c.(1195-1197)Cct>Tct p.P399S APLF_uc002seq.1_Non-coding_Transcript|APLF_uc010fdf.2_Missense_Mutation_p.P375S|APLF_uc002ser.1_Missense_Mutation_p.P130S NM_173545 NP_775816 Q8IW19 APLF_HUMAN Homo sapiens aprataxin and PNKP like factor (APLF), mRNA. 399 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 TTTTAGCCATCCTGGTGATAG 0.388000 54 13 0 0 0.000422831 0 0 TTN 7273 broad.mit.edu 37 2 179427423 179427423 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:179427423G>A uc021vsy.1 - 274 75957 c.75732C>T c.(75730-75732)gcC>gcT p.A25244A MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A18939A|TTN_uc021vta.1_Silent_p.A18872A|TTN_uc021vtb.1_Silent_p.A18747A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 26171 Ig-like 124. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGTAGCATAGGCTTTTCTTG 0.373000 66 9 0 0 0.000673444 0 0 TRPC3 7222 broad.mit.edu 37 4 122846297 122846297 + Missense_Mutation SNP C T T rs148910203 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:122846297C>T uc003ieg.2 - 2 1126 c.1052G>A c.(1051-1053)cGa>cAa p.R351Q TRPC3_uc010inr.2_Missense_Mutation_p.R278Q|TRPC3_uc003ief.2_Missense_Mutation_p.R278Q|TRPC3_uc011cgl.1_Missense_Mutation_p.R15Q NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 266 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCTGAGTCTCGGCAGAGATC 0.438000 73 15 0 0 0.000422831 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67320969 67320969 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:67320969C>T uc010cef.3 + 17 3291 c.2992C>T c.(2992-2994)Cgc>Tgc p.R998C PLEKHG4_uc002eso.4_Missense_Mutation_p.R998C|PLEKHG4_uc002esp.4_Missense_Mutation_p.R805C|PLEKHG4_uc002esq.4_Missense_Mutation_p.R998C|PLEKHG4_uc002ess.4_Missense_Mutation_p.R998C|PLEKHG4_uc010ceg.3_Missense_Mutation_p.R917C NM_001129728 NP_056247 Q58EX7 PKHG4_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA. 998 PH. R -> G (in Ref. 3; AAH54486). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) CTGGTTCCGCCGCCGCAAGGC 0.627000 24 6 0 0 3.59834e-05 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480627 140480627 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:140480627G>A uc003lio.3 + 0 394 c.394G>A c.(394-396)Gta>Ata p.V132I BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 132 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATTCTCCGGTATTCTTTGA 0.393000 73 18 0 0 0.000958276 0 0 CACHD1 57685 broad.mit.edu 37 1 65131799 65131799 + Missense_Mutation SNP T C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:65131799T>C uc001dbo.1 + 15 2288 c.2183T>C c.(2182-2184)gTt>gCt p.V728A CACHD1_uc001dbp.1_Missense_Mutation_p.V483A|CACHD1_uc001dbq.1_Missense_Mutation_p.V483A|CACHD1_uc010opa.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 779 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TACTTAGATGTTGGAGGAGCT 0.328000 61 9 0 0 0.000442599 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977268 12977268 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:12977268G>A uc003bxt.2 - 2 1299 c.1290C>T c.(1288-1290)ctC>ctT p.L430L IQSEC1_uc003bxu.3_Silent_p.L308L|IQSEC1_uc011auw.1_Silent_p.L416L NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA. 430 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCTCCCGGGGGAGGCTCTTGG 0.692000 22 6 0 0 3.59834e-05 0 0 OR13C8 138802 broad.mit.edu 37 9 107331655 107331655 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:107331655C>T uc011lvo.2 + 0 207 c.207C>T c.(205-207)ctC>ctT p.L69L NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TTTCCTTCCTCGACGTTTGCT 0.428000 169 14 0 0 0.000308642 0 0 DDX60 55601 broad.mit.edu 37 4 169204704 169204704 + Nonsense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:169204704G>A uc003irp.3 - 12 1907 c.1615C>T c.(1615-1617)Caa>Taa p.Q539* NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 539 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TAAAACCGTTGGAAAACATGA 0.328000 48 15 0 0 0.000958276 0 0 IGSF10 285313 broad.mit.edu 37 3 151156350 151156350 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:151156350G>A uc011bod.2 - 5 5999 c.5999C>T c.(5998-6000)tCc>tTc p.S2000F IGSF10_uc011bob.2_Missense_Mutation_p.S27F|IGSF10_uc011boc.2_5'UTR NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 2000 Ig-like C2-type 6. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AATAAACAGGGATCCATTAGG 0.433000 53 12 0 0 0.000308642 0 0 ATP11B 23200 broad.mit.edu 37 3 182631767 182631767 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:182631767C>T uc003flb.3 + 28 3694 c.3437C>T c.(3436-3438)cCa>cTa p.P1146L ATP11B_uc003flc.3_Missense_Mutation_p.P730L|ATP11B_uc010hxg.3_Non-coding_Transcript|ATP11B_uc010hxh.1_3'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 1146 ATP biosynthetic process|aminophospholipid transport integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGATGTAGTCCAACCCACATC 0.473000 102 22 0 0 0.000229342 0 0 TTN 7273 broad.mit.edu 37 2 179470419 179470419 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:179470419C>T uc021vsy.1 - 227 46124 c.45899G>A c.(45898-45900)aGg>aAg p.R15300K MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R8995K|TTN_uc021vta.1_Missense_Mutation_p.R8928K|TTN_uc021vtb.1_Missense_Mutation_p.R8803K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16227 Fibronectin type-III 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTATGTGAGCCTCTCTGGAGA 0.393000 38 6 0 0 8.12818e-05 0 0 TKTL1 8277 broad.mit.edu 37 X 153524338 153524338 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:153524338G>A uc004fkg.3 + 0 312 c.126G>A c.(124-126)acG>acA p.T42T TEX28_uc004fke.3_5'Flank|TEX28_uc004fkf.3_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.2_Silent_p.T42T|TKTL1_uc011mzm.2_Silent_p.T42T NM_012253 NP_001139406 P51854 TKTL1_HUMAN Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA. 42 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity p.S41F(1) NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATGCTCCACGAGCTCCGGGT 0.617000 47 19 0 0 0.000375601 0 0 ABCD3 5825 broad.mit.edu 37 1 94953463 94953464 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:94953463_94953464GG>AA uc010oto.2 + 13 1255_1256 c.1153_1154GG>AA c.(1153-1155)gga>AAa p.G385K ABCD3_uc001dqn.4_Missense_Mutation_p.G361K|ABCD3_uc010otp.2_Missense_Mutation_p.G288K|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.G49K NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 361 peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) CTACCAAAGTGGAAGAATGCTT 0.327000 47 9 0 0 6.4e-05 0 0 GCNT3 9245 broad.mit.edu 37 15 59911588 59911588 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:59911588G>A uc002age.3 + 2 1600 c.1151G>A c.(1150-1152)gGa>gAa p.G384E GCNT3_uc002agd.3_Missense_Mutation_p.G384E|GCNT3_uc021smz.1_Missense_Mutation_p.G384E NM_004751 NP_004742 O95395 GCNT3_HUMAN Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA. 384 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCTGCTCTGGAATCCACCAG 0.507000 111 23 0 0 0.000295444 0 0 SHC2 25759 broad.mit.edu 37 19 425215 425215 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:425215G>A uc002loq.4 - 9 1191 c.1191C>T c.(1189-1191)ggC>ggT p.G397G NM_012435 NP_036567 P98077 SHC2_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA. 397 CH1. Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCTGCACGTAGCCGTCCCCCG 0.716000 22 11 0 0 0.000673444 0 0 IGFL2 147920 broad.mit.edu 37 19 46663934 46663934 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:46663934A>G uc002peb.3 + 3 461 c.170A>G c.(169-171)aAc>aGc p.N57S IGFL2_uc010xxv.2_Missense_Mutation_p.N46S NM_001002915 NP_001002915 Q6UWQ7 IGFL2_HUMAN Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA. 46 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) AAGATCTACAACCCCTTGGAG 0.592000 164 18 0 0 0.000958276 0 0 SLIT1 6585 broad.mit.edu 37 10 98762108 98762108 + Silent SNP G A A rs146064836 byFrequency TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:98762108G>A uc001kmw.2 - 35 4425 c.4173C>T c.(4171-4173)tgC>tgT p.C1391C NM_003061 NP_003052 O75093 SLIT1_HUMAN Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA. 1391 EGF-like 8. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space Roundabout binding|calcium ion binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGAGGGGCACGCATTGCCCAT 0.657000 10 4 0 0 0.00024832 0 0 ZNF211 10520 broad.mit.edu 37 19 58152517 58152517 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:58152517C>T uc002qpr.2 + 5 1158 c.855C>T c.(853-855)gcC>gcT p.A285A ZNF211_uc010yhb.1_Silent_p.A225A|ZNF211_uc002qpp.2_Silent_p.A234A|ZNF211_uc002qpq.2_Silent_p.A221A|ZNF211_uc002qpt.2_Silent_p.A233A|ZNF211_uc010yhc.1_Silent_p.A233A|ZNF211_uc010yhe.1_Silent_p.A212A|ZNF211_uc010yhd.1_Silent_p.A160A NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 221 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGCGGTGGCCTTTTACAGTG 0.468000 61 5 0 0 0.000602214 0 0 SLC36A2 153201 broad.mit.edu 37 5 150726974 150726974 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:150726974G>A uc003lty.3 - 0 178 c.48C>T c.(46-48)atC>atT p.I16I SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Silent_p.I16I|SLC36A2_uc011dct.1_Silent_p.I16I NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 16 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTCCAATTTGATGGCAACGG 0.493000 150 27 0 0 0.000227799 0 0 SPOCK3 50859 broad.mit.edu 37 4 167658662 167658662 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:167658662C>T uc011cjq.1 - 8 1181 c.1124G>A c.(1123-1125)gGa>gAa p.G375E SPOCK3_uc021xuf.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjr.1_Missense_Mutation_p.G246E|SPOCK3_uc003iri.1_Missense_Mutation_p.G366E|SPOCK3_uc011cjs.1_Missense_Mutation_p.G315E|SPOCK3_uc003irj.1_Missense_Mutation_p.G363E|SPOCK3_uc011cjt.1_Missense_Mutation_p.G274E|SPOCK3_uc011cjp.2_Missense_Mutation_p.G323E|SPOCK3_uc011cju.1_Missense_Mutation_p.G270E|SPOCK3_uc011cjv.1_Missense_Mutation_p.G268E NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 366 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity p.G363E(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GACTTCATTTCCATATCTGTC 0.403000 126 25 0 0 0.000878237 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338884 151338884 + Missense_Mutation SNP T C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:151338884T>C uc010pcy.2 - 6 966 c.836A>G c.(835-837)gAg>gGg p.E279G SELENBP1_uc001exx.3_Missense_Mutation_p.E237G|SELENBP1_uc010pcz.2_Missense_Mutation_p.E175G|SELENBP1_uc001eya.3_Missense_Mutation_p.E173G NM_003944 NP_003935 Q13228 SBP1_HUMAN Homo sapiens selenium binding protein 1 (SELENBP1), mRNA. 237 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTGCACAATCTCATGGCGCTG 0.577000 94 15 0 0 0.000422831 0 0 CCDC42 146849 broad.mit.edu 37 17 8638800 8638800 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:8638800C>T uc002gln.3 - 4 849 c.622G>A c.(622-624)Gag>Aag p.E208K CCDC42_uc002glo.3_Intron NM_144681 NP_653282 Q96M95 CCD42_HUMAN Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA. 208 Missing (in Ref. 2; AAH29224). kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 TCCTTTTCCTCCATGTAGCGC 0.592000 34 7 0 0 0.000157383 0 0 WDR47 22911 broad.mit.edu 37 1 109554138 109554139 + Missense_Mutation DNP GG TT TT TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:109554138_109554139GG>TT uc001dwl.3 - 4 926_927 c.550_551CC>AA c.(550-552)cct>AAt p.P184N WDR47_uc001dwi.3_Missense_Mutation_p.P177N|WDR47_uc001dwj.3_Missense_Mutation_p.P177N|WDR47_uc001dwk.2_Missense_Mutation_p.P149N|WDR47_uc010ovf.2_Missense_Mutation_p.P104N NM_001142550 NP_001136022 O94967 WDR47_HUMAN Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA. 177 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CCTATCAGCAGGGATGAATTCT 0.441000 504 12 0 0 6.4e-05 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45486444 45486444 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:45486444G>A uc001cnd.2 - 11 2694 c.2466C>T c.(2464-2466)ctC>ctT p.L822L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA. 822 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) GAATTGTTCGGAGTCTCAAAG 0.423000 156 30 0 0 0.000814825 0 0 THADA 63892 broad.mit.edu 37 2 43802077 43802078 + Missense_Mutation DNP GG TT TT TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:43802077_43802078GG>TT uc002rsw.4 - 10 1478_1479 c.1126_1127CC>AA c.(1126-1128)ccg>AAg p.P376K THADA_uc002rsx.4_Missense_Mutation_p.P376K|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.P86K|THADA_uc002rta.2_Missense_Mutation_p.P86K|THADA_uc002rtb.1_Missense_Mutation_p.P376K|THADA_uc002rtc.4_Missense_Mutation_p.P376K|THADA_uc002rtd.3_Missense_Mutation_p.P376K NM_001083953 NP_071348 Q6YHU6 THADA_HUMAN Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA. 376 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CGTTAGGCTCGGGGAACTTGAT 0.426000 499 16 0 0 6.4e-05 0 0 CCDC146 57639 broad.mit.edu 37 7 76889513 76889513 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:76889513G>A uc003uga.3 + 7 1073 c.946G>A c.(946-948)Gaa>Aaa p.E316K CCDC146_uc010ldp.3_Missense_Mutation_p.E62K NM_020879 NP_065930 Q8IYE0 CC146_HUMAN Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA. 316 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CAAGCTATTGGAATTAGCCAG 0.313000 46 10 0 0 6.40141e-05 0 0 CYP2A7 1549 broad.mit.edu 37 19 41387548 41387548 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:41387548C>T uc002opm.3 - 1 831 c.289G>A c.(289-291)Gag>Aag p.E97K CYP2A7_uc002opo.3_Missense_Mutation_p.E97K|CYP2A7_uc002opn.3_Intron NM_000764 NP_000755 P20853 CP2A7_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA. 97 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCGCTGAACTCCTCAGCCTGG 0.642000 51 5 0 0 0.000442599 0 0 CCDC57 284001 broad.mit.edu 37 17 80059628 80059628 + Missense_Mutation SNP C A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:80059628C>A uc002kdx.1 - 16 2715 c.2678G>T c.(2677-2679)cGg>cTg p.R893L NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA. 894 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) AGGATGAGACCGGGAGGCTCC 0.612000 78 5 0.000602214 0.0083971 0.000602214 1 0 POM121L12 285877 broad.mit.edu 37 7 53103832 53103832 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:53103832G>A uc003tpz.3 + 0 484 c.468G>A c.(466-468)caG>caA p.Q156Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 156 p.Q156K(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCCCTGGACAGAGAgcccgcc 0.731000 16 5 0 0 0.000602214 0 0 MXRA5 25878 broad.mit.edu 37 X 3229204 3229204 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:3229204G>A uc004crg.4 - 6 7197 c.7040C>T c.(7039-7041)aCc>aTc p.T2347I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2347 Ig-like C2-type 8. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTTCCGGATGGTGGCGGGCGC 0.567000 32 21 0 0 0.00047179 0 0 BAHD1 22893 broad.mit.edu 37 15 40758203 40758203 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:40758203C>T uc001zlu.2 + 6 2288 c.2217C>T c.(2215-2217)ccC>ccT p.P739P BAHD1_uc001zlt.2_Silent_p.P738P|BAHD1_uc010bbp.1_Silent_p.P735P|BAHD1_uc001zlv.2_Silent_p.P736P NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA. 739 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome DNA binding|chromatin binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CACTGGTTCCCCCCTCTGCAG 0.597000 80 19 0 0 0.000295444 0 0 SRSF11 9295 broad.mit.edu 37 1 70700397 70700397 + Missense_Mutation SNP G C C rs140006011 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:70700397G>C uc001des.3 + 4 590 c.466G>C c.(466-468)Gct>Cct p.A156P SRSF11_uc001det.3_Missense_Mutation_p.A156P|SRSF11_uc001deu.2_Missense_Mutation_p.A156P|SRSF11_uc001dev.3_5'UTR|SRSF11_uc001dew.3_Missense_Mutation_p.A96P NM_004768 NP_004759 Q05519 SRS11_HUMAN Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA. 156 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding large_intestine(3)|ovary(2)|skin(1) 6 TGTTCCACTGGCTGCTTTGGG 0.403000 101 15 0 0 0.00074312 0 0 C7orf33 202865 broad.mit.edu 37 7 148288069 148288069 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:148288069C>T uc003wew.3 + 0 413 c.52C>T c.(52-54)Cca>Tca p.P18S NM_145304 NP_660347 Q8WU49 CG033_HUMAN Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA. 18 central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2) 14 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) CTGGAGACTTCCAGGCCCCCA 0.572000 45 12 0 0 0.000151284 0 0 ACTC1 70 broad.mit.edu 37 15 35085458 35085458 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:35085458C>T uc001ziu.1 - 2 685 c.442G>A c.(442-444)Ggc>Agc p.G148S AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. 148 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GTGGTACGGCCAGAAGCATAC 0.522000 51 10 0 0 0.000673444 0 0 ANPEP 290 broad.mit.edu 37 15 90349755 90349755 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:90349755C>T uc002bop.4 - 1 352 c.60G>A c.(58-60)gtG>gtA p.V20V NM_001150 NP_001141 P15144 AMPN_HUMAN Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA. 20 V -> M (in dbSNP:rs10152474). angiogenesis|cell differentiation|interspecies interaction between organisms ER-Golgi intermediate compartment|cytosol|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ACACGGCTGCCACGCCCAGGA 0.632000 39 6 0 0 3.59834e-05 0 0 NELL1 4745 broad.mit.edu 37 11 21581772 21581772 + Nonsense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:21581772G>A uc009yid.3 + 17 2061 c.1908G>A c.(1906-1908)tgG>tgA p.W636* NELL1_uc010rdp.2_Nonsense_Mutation_p.W321*|NELL1_uc001mqe.3_Nonsense_Mutation_p.W608*|NELL1_uc001mqf.3_Nonsense_Mutation_p.W561*|NELL1_uc010rdo.2_Nonsense_Mutation_p.W551*|NELL1_uc001mqh.3_Intron NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 608 VWFC 3. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 ACACCTGTTGGAACGATTCTG 0.512000 96 10 0 0 6.40141e-05 0 0 ZNF521 25925 broad.mit.edu 37 18 22805795 22805795 + Missense_Mutation SNP C A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr18:22805795C>A uc002kvk.2 - 3 2334 c.2087G>T c.(2086-2088)tGt>tTt p.C696F ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.C696F|ZNF521_uc002kvl.2_Missense_Mutation_p.C476F NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 696 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ACAACTCTCACAGATGTAATA 0.448000 T PAX5 ALL 72 20 1.87028e-06 2.66975e-05 0.000229342 1 0 SDR16C5 195814 broad.mit.edu 37 8 57228854 57228854 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:57228854G>A uc010lyk.1 - 1 691 c.53C>T c.(52-54)tCa>tTa p.S18L SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L NM_138969 NP_620419 Q8N3Y7 RDHE2_HUMAN Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA. 18 detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction binding|retinol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 ACTAAACAGTGATTTTCCTAA 0.418000 44 7 0 0 0.000274275 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841819 8841819 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:8841819G>A uc010xkg.2 + 0 429 c.429G>A c.(427-429)ctG>ctA p.L143L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TATGTCTGCTGATGATGGGCT 0.547000 51 7 0 0 0.000157383 0 0 COL14A1 7373 broad.mit.edu 37 8 121381647 121381647 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:121381647G>A uc003yox.3 + 46 5499 c.5234G>A c.(5233-5235)gGg>gAg p.G1745E COL14A1_uc003yoz.3_Missense_Mutation_p.G710E NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1745 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 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) GGTCATCTGGGGGTTCCTGGA 0.592000 43 15 0 0 0.000566183 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55107818 55107818 + Missense_Mutation SNP A C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:55107818A>C uc003dhf.3 + 36 3163 c.3115A>C c.(3115-3117)Aag>Cag p.K1039Q NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 1039 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.S1038F(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGAATCCCTTAAGTGTGAACG 0.423000 25 8 0 0 0.000442599 0 0 FOXL1 2300 broad.mit.edu 37 16 86612345 86612345 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:86612345G>A uc002fjr.3 + 0 231 c.16G>A c.(16-18)Gat>Aat p.D6N NM_005250 NP_005241 Q12952 FOXL1_HUMAN Homo sapiens forkhead box L1 (FOXL1), mRNA. 6 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of Wnt receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 TCACCTCTTCGATCCCCGGCT 0.726000 45 5 0 0 0.000157383 0 0 DBNDD2 55861 broad.mit.edu 37 20 44037233 44037233 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr20:44037233C>T uc002xof.3 + 0 605 c.432C>T c.(430-432)ctC>ctT p.L144L DBNDD2_uc002xnx.3_Silent_p.L42L|DBNDD2_uc021wei.1_Silent_p.L42L|DBNDD2_uc002xnz.3_Silent_p.L42L|DBNDD2_uc002xoa.3_Silent_p.L42L|DBNDD2_uc021wej.1_Silent_p.L42L|DBNDD2_uc002xob.3_Silent_p.L140L|DBNDD2_uc002xoc.3_Silent_p.L42L|DBNDD2_uc002xod.3_Silent_p.L42L|DBNDD2_uc002xog.3_Silent_p.L144L NM_001048225 NP_001041690 Q9BQY9 DBND2_HUMAN Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA. 140 negative regulation of protein kinase activity cytoplasm protein binding breast(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) ATCTGCATCTCGAGTCGCAGA 0.557000 49 16 0 0 0.000958276 0 0 UBE2K 3093 broad.mit.edu 37 4 39757304 39757304 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:39757304C>T uc003guu.4 + 3 528 c.244C>T c.(244-246)Cct>Tct p.P82S UBE2K_uc003gus.4_Missense_Mutation_p.P82S|UBE2K_uc003gut.4_Missense_Mutation_p.P31S|UBE2K_uc010ifn.3_Non-coding_Transcript|UBE2K_uc011byq.2_Intron|UBE2K_uc003guq.4_5'UTR NM_005339 NP_005330 P61086 UBE2K_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2K (UBE2K), transcript variant 1, mRNA. 82 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity large_intestine(1)|lung(1)|ovary(2) 4 AATATGGCATCCTAATATTAG 0.338000 94 8 0 0 0.000274275 0 0 MT4 84560 broad.mit.edu 37 16 56602771 56602771 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:56602771C>T uc002eje.1 + 2 196 c.116C>T c.(115-117)cCc>cTc p.P39L NM_032935 NP_116324 P47944 MT4_HUMAN Homo sapiens metallothionein 4 (MT4), mRNA. 39 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 CCCTGCTGCCCCCCGGGCTGT 0.607000 109 12 0 0 0.000219431 0 0 OR51A4 401666 broad.mit.edu 37 11 4967467 4967467 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:4967467C>T uc010qys.2 - 0 864 c.864G>A c.(862-864)acG>acA p.T288T NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 288 T -> M (in dbSNP:rs2442426). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAATTGGGTTCGTCAGTGGAG 0.428000 140 9 0 0 0.000442599 0 0 SNTG1 54212 broad.mit.edu 37 8 51442742 51442742 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:51442742C>T uc010lxy.1 + 10 843 c.472C>T c.(472-474)Cca>Tca p.P158S SNTG1_uc003xqs.1_Missense_Mutation_p.P158S|SNTG1_uc010lxz.1_Missense_Mutation_p.P158S|SNTG1_uc011ldl.1_Non-coding_Transcript NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA. 158 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGCAGGTGCTCCAAGTGACCA 0.453000 51 13 0 0 0.000308642 0 0 PTP4A3 11156 broad.mit.edu 37 8 142437169 142437170 + Splice_Site DNP GG TA TA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:142437169_142437170GG>TA uc003ywg.1 + 3 663 c.329_splice c.e3+1 p.R110_splice PTP4A3_uc003ywh.1_Splice_Site_p.R110_splice|PTP4A3_uc010met.1_Intron NM_032611 NP_116000 O75365 TP4A3_HUMAN Homo sapiens protein tyrosine phosphatase type IVA, member 3 (PTP4A3), transcript variant 1, mRNA. 110 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) GGCCTGGGCCGGTGAGTGTCGG 0.653000 78 9 0 0 6.4e-05 0 0 DENND2A 27147 broad.mit.edu 37 7 140301949 140301949 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:140301949C>T uc010lnk.3 - 2 769 c.249G>A c.(247-249)agG>agA p.R83R DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.R83R|DENND2A_uc003vvw.3_Silent_p.R83R|DENND2A_uc003vvx.3_Silent_p.R83R NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 83 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CATCACTACTCCTCCTCTCCA 0.537000 71 12 0 0 0.00010058 0 0 LRP2 4036 broad.mit.edu 37 2 170031841 170031841 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:170031841C>T uc002ues.3 - 54 10843 c.10630G>A c.(10630-10632)Gaa>Aaa p.E3544K NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 3544 LDL-receptor class A 26. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity p.E3544Q(2) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGGGCCAGTTCATCAGAGCCA 0.527000 46 13 0 0 0.000422831 0 0 RTEL1 51750 broad.mit.edu 37 20 62326851 62326851 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr20:62326851G>A uc021wge.1 + 32 3840 c.3670G>A c.(3670-3672)Gac>Aac p.D1224N RTEL1_uc002yfu.2_Intron|RTEL1_uc011abd.2_Intron|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Intron|RTEL1_uc002yfx.1_Missense_Mutation_p.D469N|TNFRSF6B_uc002yfy.3_Intron|TNFRSF6B_uc002yfz.3_5'Flank NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA. 0 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TCATGGGAGAGACATCGCTGG 0.697000 49 21 0 0 0.000229342 0 0 STXBP4 252983 broad.mit.edu 37 17 53155458 53155458 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:53155458A>G uc002iuf.1 + 13 1415 c.1208A>G c.(1207-1209)aAa>aGa p.K403R STXBP4_uc010dcd.1_Missense_Mutation_p.K381R NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA. 403 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 CAGGATTTAAAAAAGAGAATC 0.353000 47 17 0 0 0.00074312 0 0 ITGB2 3689 broad.mit.edu 37 21 46310042 46310042 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr21:46310042G>A uc002zgd.2 - 10 1552 c.1508C>T c.(1507-1509)tCc>tTc p.S503F ITGB2_uc002zgf.3_Missense_Mutation_p.S503F|ITGB2_uc011afl.1_Missense_Mutation_p.S425F|ITGB2_uc010gpw.2_Missense_Mutation_p.S446F|ITGB2_uc002zgg.2_Missense_Mutation_p.S503F NM_001127491 NP_001120963 P05107 ITB2_HUMAN Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA. 503 Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCAGATGATGGAGTTGTTGTC 0.607000 22 4 0 0 0.00024832 0 0 ZNF266 10781 broad.mit.edu 37 19 9524605 9524605 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:9524605G>A uc010dwq.3 - 8 2204 c.996C>T c.(994-996)tcC>tcT p.S332S ZNF266_uc002mll.3_Silent_p.S332S|ZNF266_uc002mlm.3_Silent_p.S332S|ZNF266_uc002mln.3_Silent_p.S332S|ZNF266_uc002mlo.3_Silent_p.S332S NM_198058 NP_932175 Q14584 ZN266_HUMAN Homo sapiens zinc finger protein 266 (ZNF266), mRNA. 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 AATTTCTAAAGGATTTTCCAC 0.383000 63 15 0 0 0.000422831 0 0 CDC37 11140 broad.mit.edu 37 19 10506832 10506832 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:10506832C>T uc002mof.1 - 1 266 c.150G>A c.(148-150)ctG>ctA p.L50L NM_007065 NP_008996 Q16543 CDC37_HUMAN Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA. 50 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AGCCCCTGTCCAGTTCCTCCT 0.662000 55 10 0 0 6.40141e-05 0 0 MYH7 4625 broad.mit.edu 37 14 23886453 23886453 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:23886453G>A uc001wjx.3 - 31 4534 c.4428C>T c.(4426-4428)tcC>tcT p.S1476S NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1476 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTGTGCTGAGGGAGCGAGCCT 0.577000 52 13 0 0 0.000308642 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T C C rs59802947 by1000genomes TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:12887686T>C uc001auk.2 - 2 367 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 57 p.R57R(2) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 215 6 0 0 0.000151284 0 0 MUC17 140453 broad.mit.edu 37 7 100678178 100678178 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:100678178C>T uc003uxp.1 + 2 3534 c.3481C>T c.(3481-3483)Ccg>Tcg p.P1161S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 1161 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAACCACTCCGTTAGCAAG 0.522000 194 42 0 0 0.000319135 0 0 EPB41L1 2036 broad.mit.edu 37 20 34800280 34800280 + Silent SNP C T T rs138806418 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr20:34800280C>T uc010gfq.3 + 5 2826 c.2463C>T c.(2461-2463)tcC>tcT p.S821S EPB41L1_uc002xeu.3_Silent_p.S648S|EPB41L1_uc010zvo.1_Silent_p.S722S|EPB41L1_uc002xev.3_Silent_p.S722S|EPB41L1_uc002xew.3_Silent_p.S613S|EPB41L1_uc002xex.3_Silent_p.S542S|EPB41L1_uc002xey.3_Silent_p.S500S|EPB41L1_uc002xez.3_Silent_p.S648S|EPB41L1_uc002xfb.3_Silent_p.S722S NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA. 722 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CCAGAGTCTCCGCTATGGATA 0.522000 37 11 0 0 6.40141e-05 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559719 20559719 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:20559719G>A uc002dhj.4 - 7 1181 c.971C>T c.(970-972)tCc>tTc p.S324F ACSM2B_uc002dhk.4_Missense_Mutation_p.S324F|ACSM2B_uc010bwf.1_Missense_Mutation_p.S324F NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 324 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding p.L323F(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CCATCACCTGGAAAGATCCTG 0.498000 45 14 0 0 0.000566183 0 0 OR8D1 283159 broad.mit.edu 37 11 124180450 124180450 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:124180450G>A uc010sag.2 - 0 213 c.213C>T c.(211-213)ttC>ttT p.F71F NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D70N(1) kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGGAATAGCAGAAATCGACGA 0.463000 37 11 0 0 6.40141e-05 0 0 PSD4 23550 broad.mit.edu 37 2 113942615 113942615 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:113942615G>A uc002tjc.3 + 2 1321 c.1138G>A c.(1138-1140)Gat>Aat p.D380N PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.D379N|PSD4_uc002tjf.3_5'UTR NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 380 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 tgtcggatctgatcttggccc 0.537000 96 18 0 0 0.000566183 0 0 OR10H2 26538 broad.mit.edu 37 19 15839540 15839540 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:15839540C>T uc002nbm.2 + 0 707 c.687C>T c.(685-687)atC>atT p.I229I NM_013939 NP_039227 O60403 O10H2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TCTTGAAGATCCCTTCTGCTG 0.537000 53 16 0 0 0.000422831 0 0 H3F3C 440093 broad.mit.edu 37 12 31944912 31944912 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr12:31944912C>T uc001rkr.3 - 0 264 c.189G>A c.(187-189)cgG>cgA p.R63R NM_001013699 NP_001013721 Q6NXT2 H3C_HUMAN Homo sapiens H3 histone, family 3C (H3F3C), mRNA. 63 nucleosome assembly nucleosome|nucleus DNA binding p.R63R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 18 AGGGCAGCTTCCGGATGAGCA 0.617000 HNSCC(67;0.2) 34 5 0 0 3.59834e-05 0 0 MAP1B 4131 broad.mit.edu 37 5 71494538 71494538 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:71494538C>T uc003kbw.4 + 4 5597 c.5356C>T c.(5356-5358)Cca>Tca p.P1786S MAP1B_uc010iyw.1_Missense_Mutation_p.P1803S|MAP1B_uc010iyx.1_Missense_Mutation_p.P1660S|MAP1B_uc010iyy.1_Missense_Mutation_p.P1660S NM_005909 NP_005900 P46821 MAP1B_HUMAN Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA. 1786 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TGATATCTCTCCACTCACCCC 0.448000 50 9 0 0 0.000274275 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C T T rs55863639 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:7579312C>T uc002gim.2 - 4 569 c.375_splice c.e4+1 p.T125_splice TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAACTGACCGTGCAAGTCA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 63 15 0 0 0.00074312 0 0 CGNL1 84952 broad.mit.edu 37 15 57745952 57745952 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:57745952A>G uc010bfw.3 + 7 2319 c.2126A>G c.(2125-2127)gAa>gGa p.E709G CGNL1_uc002aeg.3_Missense_Mutation_p.E709G NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 709 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CAGCTCTCAGAAATGCACGAT 0.552000 42 8 0 0 6.40141e-05 0 0 STK19 8859 broad.mit.edu 37 6 31940123 31940123 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:31940123G>A uc003nyv.3 + 1 393 c.265G>A c.(265-267)Gac>Aac p.D89N DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript NM_032454 NP_115830 P49842 STK19_HUMAN Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA. 89 D -> N (in a metastatic melanoma sample; somatic mutation). nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.D89N(6)|p.E88K(1) skin(5)|upper_aerodigestive_tract(2) 7 TGCGCCGGAAGACCCTATTTT 0.582000 55 10 0 0 0.000151284 0 0 MGAT5B 146664 broad.mit.edu 37 17 74868989 74868989 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:74868989G>A uc002jti.3 + 0 261 c.158G>A c.(157-159)gGa>gAa p.G53E MGAT5B_uc002jtg.4_Missense_Mutation_p.G42E|MGAT5B_uc002jth.3_Missense_Mutation_p.G42E NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 42 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACGTCTCTGGGAGGCCAGTTC 0.622000 51 10 0 0 6.40141e-05 0 0 XIRP2 129446 broad.mit.edu 37 2 168105217 168105217 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:168105217G>A uc002udx.3 + 8 7404 c.7315G>A c.(7315-7317)Gat>Aat p.D2439N XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2264N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2217N|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2264 actin cytoskeleton organization cell junction actin binding p.D2439N(2) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAATAAGAACGATTTTTCCCC 0.408000 121 29 0 0 0.000814825 0 0 CHD3 1107 broad.mit.edu 37 17 7811803 7811803 + Missense_Mutation SNP T G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:7811803T>G uc002gjd.2 + 34 5415 c.5413T>G c.(5413-5415)Tat>Gat p.Y1805D CHD3_uc002gje.2_Missense_Mutation_p.Y1746D|CHD3_uc002gjf.2_Missense_Mutation_p.Y1712D|CHD3_uc002gjh.2_Missense_Mutation_p.Y323D|CHD3_uc002gjj.2_5'Flank NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 1746 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) AAGACATGACTATTGGCTTCT 0.458000 27 7 0 0 0.000157383 0 0 FAM120A 23196 broad.mit.edu 37 9 96278434 96278434 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:96278434C>T uc004atw.3 + 6 1326 c.1301C>T c.(1300-1302)tCc>tTc p.S434F FAM120A_uc004atv.3_Missense_Mutation_p.S434F|FAM120A_uc004atx.3_Missense_Mutation_p.S216F|FAM120A_uc004aty.3_Missense_Mutation_p.S215F|FAM120A_uc004atz.3_Missense_Mutation_p.S83F|FAM120A_uc010mrf.1_Non-coding_Transcript NM_014612 NP_055427 Q9NZB2 F120A_HUMAN Homo sapiens family with sequence similarity 120A (FAM120A), mRNA. 434 cytoplasm|plasma membrane RNA binding endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TATGAGCGGTCCTCGCCCATC 0.597000 37 6 0 0 0.000157383 0 0 CCDC144A 9720 broad.mit.edu 37 17 16635973 16635973 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:16635973A>G uc002gqk.1 + 10 2487 c.2411A>G c.(2410-2412)aAt>aGt p.N804S CCDC144A_uc002gql.1_Missense_Mutation_p.N274S|CCDC144A_uc010cpj.1_Non-coding_Transcript NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 804 AAGAAAATGAATTCTGAGGTA 0.313000 16 9 0 0 0.000274275 0 0 LOC100101266 100101266 broad.mit.edu 37 19 24345488 24345488 + RNA SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:24345488C>T uc010edb.1 - 0 c.762G>A Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA. ATTCCAAAGGCCATCTGAAGA 0.453000 184 28 0 0 0.000878237 0 0 TXNDC8 255220 broad.mit.edu 37 9 113096559 113096559 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:113096559G>A uc004bes.3 - 1 115 c.66C>T c.(64-66)ctC>ctT p.L22L TXNDC8_uc011lwl.2_Silent_p.L22L NM_001003936 NP_001003936 Q6A555 TXND8_HUMAN Homo sapiens thioredoxin domain containing 8 (spermatozoa) (TXNDC8), mRNA. 22 Thioredoxin. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis Golgi apparatus electron carrier activity|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 GAACCACTGCGAGTTTGTGTC 0.368000 33 6 0 0 0.000157383 0 0 ADPRH 141 broad.mit.edu 37 3 119301094 119301094 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:119301094C>T uc003ecs.3 + 2 376 c.78C>T c.(76-78)ttC>ttT p.F26F ADPRH_uc010hqv.3_Silent_p.F26F|ADPRH_uc011bjb.2_Intron|ADPRH_uc003ect.3_Silent_p.F26F NM_001125 NP_001116 P54922 ADPRH_HUMAN Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA. 26 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding p.F26F(2) breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AGTGGGAGTTCCTCCAGGATG 0.572000 41 10 0 0 0.000442599 0 0 FER1L6 654463 broad.mit.edu 37 8 125025757 125025757 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:125025757C>T uc003yqw.3 + 14 2114 c.1908C>T c.(1906-1908)ttC>ttT p.F636F FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 636 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCAGTGACTTCATCAGTCGGA 0.453000 52 11 0 0 6.40141e-05 0 0 C1orf116 79098 broad.mit.edu 37 1 207196511 207196511 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:207196511G>A uc001hfd.2 - 3 857 c.598C>T c.(598-600)Ccg>Tcg p.P200S C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank NM_023938 NP_001077393 Q9BW04 SARG_HUMAN Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA. 200 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GCTTCTGGCGGAGGGATGAGC 0.657000 95 14 0 0 0.000151284 0 0 ACR 49 broad.mit.edu 37 22 51182622 51182622 + Silent SNP C T T rs145267492 byFrequency TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr22:51182622C>T uc003bnh.4 + 3 711 c.699C>T c.(697-699)atC>atT p.I233I NM_001097 NP_001088 P10323 ACRO_HUMAN Homo sapiens acrosin (ACR), mRNA. 233 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) TAGGCAAGATCGACACCTGCC 0.587000 39 5 0 0 3.59834e-05 0 0 TRBV19 28568 broad.mit.edu 37 7 142326843 142326843 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:142326843C>T uc003vzo.2 + 1 336 c.141C>T c.(139-141)aaC>aaT p.N47N TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGAATTTGAACCACGATGCCA 0.468000 114 36 0 0 0.000953801 0 0 OR4C3 256144 broad.mit.edu 37 11 48346606 48346606 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:48346606C>T uc010rhv.2 + 0 114 c.114C>T c.(112-114)ttC>ttT p.F38F NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 CAGAATTTTTCATGCTGGGGC 0.418000 84 8 0 0 0.000157383 0 0 RPRD2 23248 broad.mit.edu 37 1 150444095 150444095 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:150444095C>T uc009wlr.3 + 10 2872 c.2671C>T c.(2671-2673)Cca>Tca p.P891S RPRD2_uc010pcc.1_Missense_Mutation_p.P865S|RPRD2_uc001eup.4_Missense_Mutation_p.P865S NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA. 891 Ser-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGCCTTCCCTCCATCTGTAAG 0.517000 67 12 0 0 6.40141e-05 0 0 GLYCTK 132158 broad.mit.edu 37 3 52326291 52326291 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:52326291C>T uc003ddo.3 + 4 817 c.721C>T c.(721-723)Ctg>Ttg p.L241L GLYCTK_uc003ddq.2_Missense_Mutation_p.P182L|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Intron|GLYCTK_uc003ddp.1_Silent_p.L241L|GLYCTK_uc003ddr.3_5'Flank NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA. 241 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GAGCCTCATCCTGTCAGATGT 0.592000 41 6 0 0 8.12818e-05 0 0 AGAP9 642517 broad.mit.edu 37 10 47193377 47193377 + Missense_Mutation SNP T C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:47193377T>C uc009xnf.2 - 7 854 c.742A>G c.(742-744)Atg>Gtg p.M248V AGAP9_uc001jei.3_Non-coding_Transcript NM_001190810 NP_001177739 D3YTF3 D3YTF3_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA. 248 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GACCAGCGCATGGACAGCTTG 0.582000 12 4 0 0 8.12818e-05 0 0 RGS21 431704 broad.mit.edu 37 1 192335244 192335244 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:192335244C>T uc001gsh.3 + 4 623 c.449C>T c.(448-450)cCt>cTt p.P150L NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 150 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 AAATGGCTCCCTTTTTTGTGA 0.333000 33 11 0 0 6.40141e-05 0 0 CAD 790 broad.mit.edu 37 2 27456998 27456998 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:27456998C>T uc002rji.3 + 21 3684 c.3522C>T c.(3520-3522)atC>atT p.I1174I CAD_uc010eyw.3_Silent_p.I1111I NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 1174 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CACAAGATATCACTGCCAAAA 0.557000 49 7 0 0 8.12818e-05 0 0 FGD5 152273 broad.mit.edu 37 3 14862002 14862002 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:14862002G>A uc003bzc.3 + 0 1534 c.1424G>A c.(1423-1425)aGg>aAg p.R475K FGD5_uc011avk.2_Missense_Mutation_p.R475K NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 475 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCCGCGGACAGGAAGAACACC 0.627000 52 11 0 0 0.000673444 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222821 140222821 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:140222821G>A uc003lhs.2 + 0 1915 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E639K NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 650 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGGACGAAGCGGACTC 0.647000 77 24 0 0 0.000720815 0 0 ITGA9 3680 broad.mit.edu 37 3 37785434 37785434 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:37785434C>T uc003chd.3 + 21 2395 c.2342C>T c.(2341-2343)tCc>tTc p.S781F NM_002207 NP_002198 Q13797 ITA9_HUMAN Homo sapiens integrin, alpha 9 (ITGA9), mRNA. 781 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) TCTCCAACCTCCTTTGTATAT 0.488000 72 7 0 0 0.000274275 0 0 OPLAH 26873 broad.mit.edu 37 8 145106331 145106331 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:145106331C>T uc003zar.3 - 27 3845 c.3763G>A c.(3763-3765)Gac>Aac p.D1255N NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 1255 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) TCCTCCGGGTCCCCATAGCCA 0.741000 17 7 0 0 0.000274275 0 0 RELB 5971 broad.mit.edu 37 19 45540674 45540674 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:45540674C>T uc021uvq.1 + 11 1497 c.1366C>T c.(1366-1368)Ccg>Tcg p.P456S RELB_uc021uvp.1_Missense_Mutation_p.P453S|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank NM_006509 NP_006500 Q01201 RELB_HUMAN Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA. 456 nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) CCCGTTCCTCCCGCCGTCAGC 0.592000 183 26 0 0 0.000147802 0 0 TRPM6 140803 broad.mit.edu 37 9 77417015 77417015 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:77417015C>T uc004ajl.1 - 15 2046 c.1808G>A c.(1807-1809)gGc>gAc p.G603D TRPM6_uc004ajk.1_Missense_Mutation_p.G598D|TRPM6_uc022bib.1_Missense_Mutation_p.G598D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 603 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GTAAAGAAAGCCAGTAGACTC 0.423000 37 10 0 0 0.000673444 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802785 185802785 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:185802785C>T uc002uph.3 + 3 3256 c.2662C>T c.(2662-2664)Cct>Tct p.P888S NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 888 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CAATCTCCTTCCTTCTGAAAC 0.393000 55 10 0 0 0.000442599 0 0 TLL1 7092 broad.mit.edu 37 4 166916254 166916254 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:166916254G>A uc003irh.2 + 4 1203 c.556G>A c.(556-558)Gaa>Aaa p.E186K TLL1_uc021xud.1_Missense_Mutation_p.E186K|TLL1_uc011cjn.2_Missense_Mutation_p.E186K|TLL1_uc011cjo.2_Missense_Mutation_p.E10K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 186 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) GAGGCACTGGGAAAAGCACAC 0.448000 145 33 0 0 0.000409698 0 0 AGXT2 64902 broad.mit.edu 37 5 34998865 34998865 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:34998865G>A uc003jjf.3 - 13 1747 c.1504C>T c.(1504-1506)Cgt>Tgt p.R502C AGXT2_uc003jje.1_Missense_Mutation_p.R155C|AGXT2_uc011com.2_Missense_Mutation_p.R427C NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA. 502 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding p.R502H(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) AAGGCAGAACGAAATACTTCT 0.378000 65 10 0 0 0.000673444 0 0 ABCC8 6833 broad.mit.edu 37 11 17450174 17450174 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:17450174C>T uc001mnc.3 - 12 1987 c.1861G>A c.(1861-1863)Gag>Aag p.E621K NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 621 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CACTGCTCCTCACGGATCTCT 0.652000 93 14 0 0 0.000566183 0 0 CCR6 1235 broad.mit.edu 37 6 167550187 167550187 + Nonsense_Mutation SNP C T T rs139697820 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:167550187C>T uc003qvl.3 + 12 2945 c.469C>T c.(469-471)Cga>Tga p.R157* CCR6_uc010kkm.3_Nonsense_Mutation_p.R157*|CCR6_uc003qvn.4_Nonsense_Mutation_p.R157*|CCR6_uc003qvm.4_Nonsense_Mutation_p.R157* NM_031409 NP_113597 P51684 CCR6_HUMAN Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA. 157 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) ATTCCGGCTCCGATCCAGAAC 0.488000 55 12 0 0 0.00010058 0 0 CHGB 1114 broad.mit.edu 37 20 5897564 5897564 + Splice_Site SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr20:5897564G>A uc002wmg.3 + 3 496 c.190_splice c.e3+1 p.S64_splice CHGB_uc010zqz.2_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 64 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TCCTGAAGACGAGTAAGTGTC 0.552000 30 4 0 0 3.59834e-05 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457481 110457481 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:110457481G>A uc003yne.3 + 37 5487 c.5383G>A c.(5383-5385)Gaa>Aaa p.E1795K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1795 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGAGGTTAATGAAAACAACAT 0.423000 HNSCC(38;0.096) 81 13 0 0 0.000308642 0 0 KIF14 9928 broad.mit.edu 37 1 200522523 200522523 + Nonsense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:200522523C>T uc010ppk.1 - 29 5379 c.4940G>A c.(4939-4941)tGg>tAg p.W1647* KIF14_uc010ppj.1_Nonsense_Mutation_p.W1156* NM_014875 NP_055690 Q15058 KIF14_HUMAN Homo sapiens kinesin family member 14 (KIF14), mRNA. 1647 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TATTCACACCCACTGAATCCT 0.448000 110 16 0 0 0.000958276 0 0 COL6A3 1293 broad.mit.edu 37 2 238285737 238285737 + Silent SNP C A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:238285737C>A uc002vwl.2 - 6 3033 c.2748G>T c.(2746-2748)ctG>ctT p.L916L COL6A3_uc002vwo.2_Silent_p.L710L|COL6A3_uc010znj.1_Silent_p.L309L|COL6A3_uc002vwq.3_Silent_p.L710L|COL6A3_uc002vwr.3_Silent_p.L509L|COL6A3_uc010znk.1_Silent_p.L716L NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 916 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCGCGTAGCCCAGGTTGAGGG 0.527000 59 12 6.40141e-05 0.000907621 6.40141e-05 1 0 ATP13A5 344905 broad.mit.edu 37 3 193039562 193039562 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:193039562G>A uc011bsq.2 - 15 1823 c.1823C>T c.(1822-1824)tCc>tTc p.S608F NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 608 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGCGATCACGGACATCCTCTG 0.507000 49 9 0 0 0.000274275 0 0 PDZD4 57595 broad.mit.edu 37 X 153069219 153069219 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:153069219G>A uc004fja.1 - 7 2167 c.1917C>T c.(1915-1917)acC>acT p.T639T PDZD4_uc004fiy.1_Silent_p.T558T|PDZD4_uc004fiz.1_Silent_p.T633T|PDZD4_uc004fix.2_Silent_p.T537T|PDZD4_uc011mze.1_Silent_p.T524T|PDZD4_uc022chy.1_Silent_p.T12T NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 633 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACGTAGCGGGTTCCGTCGC 0.706000 26 12 0 0 0.000151284 0 0 IPO4 79711 broad.mit.edu 37 14 24652822 24652823 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:24652822_24652823GG>AA uc001wmv.1 - 19 3057_3058 c.2036_2037CC>TT c.(2035-2037)gcc>gTT p.A679V IPO4_uc001wmt.1_Missense_Mutation_p.A157V|IPO4_uc001wmu.2_Missense_Mutation_p.A341V|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.A543V|IPO4_uc001wmy.1_Missense_Mutation_p.A543V|IPO4_uc001wmz.2_Missense_Mutation_p.A679V NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN Homo sapiens importin 4 (IPO4), mRNA. 679 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TCTCCCCCACGGCAGCACAGGT 0.574000 18 7 0 0 6.4e-05 0 0 ITIH1 3697 broad.mit.edu 37 3 52823754 52823754 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:52823754C>T uc003dfs.3 + 18 2235 c.2205C>T c.(2203-2205)atC>atT p.I735I ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.I593I|ITIH1_uc021wzg.1_Silent_p.I447I|ITIH1_uc021wzh.1_Silent_p.I447I|ITIH1_uc003dft.3_Silent_p.I336I NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 735 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GGCTGGGAATCGCAAACCCTG 0.577000 73 12 0 0 6.40141e-05 0 0 IFIT1B 439996 broad.mit.edu 37 10 91144016 91144016 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr10:91144016G>A uc001kgh.3 + 1 1026 c.946G>A c.(946-948)Gaa>Aaa p.E316K LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron NM_001010987 NP_001010987 Q5T764 IFT1B_HUMAN Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA. 316 binding endometrium(2)|large_intestine(3)|lung(8) 13 GCAAGATAGGGAAACTGTGGA 0.438000 54 8 0 0 0.000157383 0 0 CHD5 26038 broad.mit.edu 37 1 6206302 6206302 + Nonsense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:6206302C>T uc001amb.2 - 10 1883 c.1772G>A c.(1771-1773)tGg>tAg p.W591* CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 591 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AATCATCATCCACTCTGGCTT 0.577000 58 13 0 0 0.000566183 0 0 CTAGE11P 647288 broad.mit.edu 37 13 75814354 75814354 + Missense_Mutation SNP C G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr13:75814354C>G uc010ths.2 - 0 164 c.123G>C c.(121-123)tgG>tgC p.W41C Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA. CCACCAGTTCCCATGGAAAAC 0.488000 39 4 0 0 0.00024832 0 0 PHRF1 57661 broad.mit.edu 37 11 587263 587263 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:587263C>T uc001lqe.3 + 3 350 c.219C>T c.(217-219)tcC>tcT p.S73S PHRF1_uc010qwc.2_Silent_p.S73S|PHRF1_uc010qwd.2_Silent_p.S72S|PHRF1_uc010qwe.2_Silent_p.S69S NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA. 73 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CTCCAGGTTCCGAGGATTCTG 0.597000 13 4 0 0 0.000602214 0 0 DBC1 1620 broad.mit.edu 37 9 121929846 121929846 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:121929846G>A uc004bkc.2 - 7 2258 c.1802C>T c.(1801-1803)aCt>aTt p.T601I NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 601 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CAGCAAAAGAGTCCAGTTGTA 0.547000 87 22 0 0 0.00047179 0 0 INPP5D 3635 broad.mit.edu 37 2 234072391 234072391 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:234072391C>T uc010zmo.2 + 10 1345 c.1192C>T c.(1192-1194)Ctc>Ttc p.L398F INPP5D_uc010zmp.2_Missense_Mutation_p.L397F NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 427 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GTCCTGGTTTCTCTCCAAGGG 0.547000 101 9 0 0 0.000442599 0 0 PDE8B 8622 broad.mit.edu 37 5 76707543 76707543 + Missense_Mutation SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:76707543A>G uc003kfa.3 + 14 1618 c.1573A>G c.(1573-1575)Aag>Gag p.K525E PDE8B_uc003kfd.3_Missense_Mutation_p.K478E|PDE8B_uc003kfe.3_Missense_Mutation_p.K428E|PDE8B_uc003kfb.3_Missense_Mutation_p.K505E|PDE8B_uc003kfc.3_Missense_Mutation_p.K470E NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 525 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TGTGTTTACTAAGAGTAAGTT 0.413000 320 69 0 0 0.000781405 0 0 C8B 732 broad.mit.edu 37 1 57397493 57397493 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:57397493G>A uc001cyp.3 - 10 1678 c.1611C>T c.(1609-1611)tcC>tcT p.S537S C8B_uc010oon.2_Silent_p.S475S|C8B_uc010ooo.2_Silent_p.S485S NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 537 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TCTTCCGATAGGAGACCTCAC 0.512000 29 8 0 0 0.000673444 0 0 ZNF76 7629 broad.mit.edu 37 6 35258133 35258133 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:35258133C>T uc003oki.1 + 5 728 c.523C>T c.(523-525)Ctc>Ttc p.L175F ZNF76_uc011dsy.1_Missense_Mutation_p.L175F|ZNF76_uc011dsz.1_Missense_Mutation_p.L175F|ZNF76_uc003okj.1_Missense_Mutation_p.L175F NM_003427 NP_003418 P36508 ZNF76_HUMAN Homo sapiens zinc finger protein 76 (ZNF76), mRNA. 175 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 CTGTGGGCGTCTCTACACCAC 0.532000 186 24 0 0 0.000878237 0 0 SARS 6301 broad.mit.edu 37 1 109777939 109777939 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:109777939C>T uc001dwu.2 + 6 955 c.855C>T c.(853-855)ctC>ctT p.L285L NM_006513 NP_006504 P49591 SYSC_HUMAN Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA. 285 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|RNA binding|protein binding|serine-tRNA ligase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) ATGAGTGGCTCCGGCCGGAGG 0.592000 412 64 0 0 0.000781405 0 0 OSBP 5007 broad.mit.edu 37 11 59368790 59368790 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:59368790C>T uc001noc.1 - 4 1570 c.1090G>A c.(1090-1092)Gag>Aag p.E364K OSBP_uc009ymr.1_5'Flank NM_002556 NP_002547 P22059 OSBP1_HUMAN Homo sapiens oxysterol binding protein (OSBP), mRNA. 364 lipid transport Golgi membrane oxysterol binding p.E364E(1) NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTGATGATCTCAGGTGCATCA 0.398000 39 7 0 0 0.000442599 0 0 YSK4 80122 broad.mit.edu 37 2 135744054 135744054 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:135744054C>T uc002tue.1 - 6 2419 c.2388G>A c.(2386-2388)atG>atA p.M796I YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.M683I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.M524I|YSK4_uc002tui.4_Missense_Mutation_p.M813I NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 796 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) CATTCTGTTTCATGGACTGCT 0.393000 79 17 0 0 0.000566183 0 0 ALB 213 broad.mit.edu 37 4 74274451 74274451 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:74274451C>T uc003hgs.4 + 3 484 c.411C>T c.(409-411)ccC>ccT p.P137P ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.P27P NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 137 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CAAACCTCCCCCGATTGGTGA 0.398000 32 4 0 0 0.000602214 0 0 FRK 2444 broad.mit.edu 37 6 116289877 116289877 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:116289877G>A uc003pwi.1 - 2 939 c.492C>T c.(490-492)caC>caT p.H164H NM_002031 NP_002022 P42685 FRK_HUMAN Homo sapiens fyn-related kinase (FRK), mRNA. 164 SH2. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TAATTCTGTAGTGTTTTACAA 0.363000 72 13 0 0 0.000219431 0 0 ZNF578 147660 broad.mit.edu 37 19 53015138 53015138 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:53015138C>T uc002pzp.4 + 5 1748 c.1504C>T c.(1504-1506)Cgt>Tgt p.R502C NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TCCATGCCATCGTAGACTTCA 0.403000 49 6 0 0 3.59834e-05 0 0 RFX7 64864 broad.mit.edu 37 15 56386014 56386014 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:56386014G>A uc010bfn.3 - 8 3912 c.3912C>T c.(3910-3912)tcC>tcT p.S1304S RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.S1118S NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN Homo sapiens regulatory factor X, 7 (RFX7), mRNA. 1207 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CAGAAGTGCTGGAATCGATCA 0.418000 57 18 0 0 0.00074312 0 0 VWA3B 200403 broad.mit.edu 37 2 98810890 98810890 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:98810890G>A uc002syo.3 + 11 1936 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K VWA3B_uc010yvh.2_Missense_Mutation_p.E408K|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E77K|VWA3B_uc002sym.3_Missense_Mutation_p.E558K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E215K|VWA3B_uc002syp.1_5'UTR NM_144992 NP_659429 Q502W6 VWA3B_HUMAN Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA. 558 VWFA. p.R557L(2) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTTGGCGGGAACAACTTGC 0.383000 204 36 0 0 0.000191422 0 0 ENAM 10117 broad.mit.edu 37 4 71507955 71507955 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:71507955G>A uc011caw.1 + 8 1093 c.812G>A c.(811-813)gGa>gAa p.G271E NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 271 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGCCCCACAGGAAACAGTACC 0.542000 39 6 0 0 3.59834e-05 0 0 TPTE 7179 broad.mit.edu 37 21 10906928 10906928 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr21:10906928C>T uc002yip.1 - 23 2001 c.1633G>A c.(1633-1635)Gat>Aat p.D545N TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D527N|TPTE_uc002yir.1_Missense_Mutation_p.D507N|TPTE_uc010gkv.1_Missense_Mutation_p.D407N NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 545 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.D527N(2)|p.D545N(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTACAACATCACTGGAAGTC 0.383000 45 5 0 0 0.000602214 0 0 EPHA7 2045 broad.mit.edu 37 6 93967240 93967240 + Splice_Site SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:93967240C>T uc003poe.3 - 12 2352 c.2111_splice c.e12-1 p.G704_splice EPHA7_uc003pof.3_Splice_Site_p.G699_splice|EPHA7_uc011eac.2_Splice_Site_p.G700_splice NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 704 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGACTGGTTTCCCTAAAATTA 0.368000 53 8 0 0 0.000157383 0 0 SLIT2 9353 broad.mit.edu 37 4 20598237 20598237 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr4:20598237C>T uc003gpr.1 + 31 3724 c.3520C>T c.(3520-3522)Cct>Tct p.P1174S SLIT2_uc003gps.1_Missense_Mutation_p.P1166S NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1174 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TCTTCAGATTCCTTCAGCCAA 0.388000 42 5 0 0 3.59834e-05 0 0 SLC10A1 6554 broad.mit.edu 37 14 70245170 70245170 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:70245170G>A uc001xlr.2 - 3 957 c.823C>T c.(823-825)Cca>Tca p.P275S NM_003049 NP_003040 Q14973 NTCP_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA. 275 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1) 14 all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226) ACTTCAGGTGGAAAGGCCACA 0.493000 59 15 0 0 0.000219431 0 0 CERS2 29956 broad.mit.edu 37 1 150941453 150941453 + Silent SNP A G G TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:150941453A>G uc001evy.3 - 1 540 c.114T>C c.(112-114)gaT>gaC p.D38D CERS2_uc001evz.3_Silent_p.D38D|CERS2_uc009wmh.3_Intron NM_181746 NP_859530 Q96G23 CERS2_HUMAN Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA. 38 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity TGATATAGAGATCTGAGGCTT 0.532000 82 8 0 0 0.000274275 0 0 SACS 26278 broad.mit.edu 37 13 23911699 23911699 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr13:23911699G>A uc001uon.2 - 9 6905 c.6316C>T c.(6316-6318)Cct>Tct p.P2106S SACS_uc001uoo.2_Missense_Mutation_p.P1959S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 2106 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AAAACCAAAGGATGCCCCTCC 0.398000 27 5 0 0 0.000602214 0 0 PRUNE2 158471 broad.mit.edu 37 9 79244197 79244197 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:79244197G>A uc010mpk.3 - 15 9184 c.9060C>T c.(9058-9060)ttC>ttT p.F3020F PRUNE2_uc011lsk.2_Silent_p.F269F|PRUNE2_uc011lsl.2_Silent_p.F284F|PRUNE2_uc011lsm.2_Silent_p.F285F|PRUNE2_uc004akj.4_Silent_p.F474F|PRUNE2_uc022big.1_Non-coding_Transcript NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 3020 CRAL-TRIO. G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TTTTACTGCTGAATTTTGAAC 0.328000 19 5 0 0 3.59834e-05 0 0 C1QTNF3 114899 broad.mit.edu 37 5 34028868 34028868 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:34028868G>A uc003jio.3 - 3 832 c.691C>T c.(691-693)Cca>Tca p.P231S C1QTNF3_uc003jim.3_Missense_Mutation_p.P38S|C1QTNF3_uc003jin.3_Missense_Mutation_p.P158S NM_181435 NP_852100 Q9BXJ4 C1QT3_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA. 158 C1q. collagen breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1) 17 all_lung(31;0.0207) CCTGATACTGGGGCCCCAAAT 0.423000 42 7 0 0 0.000442599 0 0 ADORA3 140 broad.mit.edu 37 1 112043095 112043095 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:112043095G>A uc001ebh.4 - 1 1201 c.434C>T c.(433-435)cCc>cTc p.P145L ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA. 145 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GCCAAACATGGGGGTCAATCC 0.483000 88 18 0 0 0.000958276 0 0 ERRFI1 54206 broad.mit.edu 37 1 8073678 8073678 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:8073678C>T uc001aoz.3 - 3 1230 c.981G>A c.(979-981)ccG>ccA p.P327P ERRFI1_uc001apa.1_Silent_p.P252P NM_018948 NP_061821 Q9UJM3 ERRFI_HUMAN Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA. 327 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus Rho GTPase activator activity|protein kinase binding breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) GCGAGTTACTCGGTGACAAAG 0.512000 126 22 0 0 0.000586117 0 0 SH3GL2 6456 broad.mit.edu 37 9 17786438 17786438 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr9:17786438G>A uc003zna.3 + 3 535 c.247G>A c.(247-249)Ggg>Agg p.G83R SH3GL2_uc011lmx.1_Missense_Mutation_p.G48R|SH3GL2_uc011lmy.2_Missense_Mutation_p.G36R NM_003026 NP_003017 Q99962 SH3G2_HUMAN Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA. 83 BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity). axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport Golgi membrane|cytosol|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) CCAGGAGAAGGGGCCAGGCTA 0.502000 67 13 0 0 0.000308642 0 0 EPPK1 83481 broad.mit.edu 37 8 144946534 144946534 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:144946534G>A uc003zaa.1 - 0 901 c.888C>T c.(886-888)ggC>ggT p.G296G NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 296 cytoplasm|cytoskeleton protein binding|structural molecule activity p.E295K(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCTTCTTGTGGCCTTCGGGCA 0.687000 62 13 0 0 0.000422831 0 0 ASB15 142685 broad.mit.edu 37 7 123277012 123277012 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:123277012G>A uc003vku.1 + 11 2036 c.1744G>A c.(1744-1746)Gga>Aga p.G582R ASB15_uc003vkw.1_Missense_Mutation_p.G582R NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 582 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGATCTCTATGGACAAGAGCT 0.333000 53 10 0 0 0.000673444 0 0 CDK4 1019 broad.mit.edu 37 12 58145436 58145436 + Missense_Mutation SNP T A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr12:58145436T>A uc001spv.3 - 1 357 c.65A>T c.(64-66)aAg>aTg p.K22M CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript NM_000075 NP_000066 P11802 CDK4_HUMAN Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA. 22 Protein kinase. G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding p.K22R(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) ATCACGGGCCTTGTACACTGT 0.557000 Mis melanoma Hereditary Melanoma 33 12 0 0 0.00010058 0 0 CA8 767 broad.mit.edu 37 8 61178492 61178492 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:61178492G>A uc003xtz.1 - 2 657 c.409C>T c.(409-411)Ccc>Tcc p.P137S CA8_uc003xua.1_Missense_Mutation_p.P137S|CA8_uc003xub.3_Missense_Mutation_p.P137S NM_004056 NP_004047 P35219 CAH8_HUMAN Homo sapiens carbonic anhydrase VIII (CA8), mRNA. 137 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) ACCTCCATGGGAAAAGCTTTG 0.358000 36 4 0 0 0.00024832 0 0 OR8K5 219453 broad.mit.edu 37 11 55927529 55927529 + Nonsense_Mutation SNP G A A rs147577134 TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:55927529G>A uc010rja.2 - 0 265 c.265C>T c.(265-267)Cga>Tga p.R89* NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R89R(2)|p.D88E(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATAGTATTTCGATCCACAACA 0.393000 68 16 0 0 0.000422831 0 0 SEMA5A 9037 broad.mit.edu 37 5 9154652 9154652 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:9154652C>T uc003jek.2 - 11 2141 c.1429G>A c.(1429-1431)Gag>Aag p.E477K NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 477 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ACCACGTGCTCCCGCAGGCCC 0.612000 48 6 0 0 8.12818e-05 0 0 CNTN4 152330 broad.mit.edu 37 3 3081846 3081846 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:3081846G>A uc003bpc.3 + 19 2628 c.2289G>A c.(2287-2289)agG>agA p.R763R CNTN4_uc003bpb.1_Silent_p.R434R|CNTN4_uc021wsg.1_Silent_p.R763R|CNTN4_uc003bpe.3_Silent_p.R435R|CNTN4_uc003bpf.3_Silent_p.R434R|CNTN4_uc003bpg.3_Silent_p.R19R NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 763 Fibronectin type-III 2. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ACGTGTTCAGGAATGAGAGCG 0.522000 82 16 0 0 0.000566183 0 0 GRM8 2918 broad.mit.edu 37 7 126249460 126249460 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr7:126249460C>T uc003vlr.2 - 6 1761 c.1450G>A c.(1450-1452)Gag>Aag p.E484K GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E484K|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 484 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACTTTGTACTCTGTGCTTTTG 0.403000 HNSCC(24;0.065) 112 24 0 0 0.000720815 0 0 STYK1 55359 broad.mit.edu 37 12 10774478 10774478 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr12:10774478G>A uc001qys.2 - 9 1582 c.1061C>T c.(1060-1062)aCc>aTc p.T354I NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 354 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity p.H353R(1) breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CACTTACATGGTATGTGTGCA 0.468000 HNSCC(73;0.22) 82 15 0 0 0.000422831 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153312982 153312982 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:153312982C>T uc001fbo.3 - 6 764 c.699G>A c.(697-699)gcG>gcA p.A233A PGLYRP4_uc001fbp.3_Silent_p.A229A NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 233 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCATACTTCGCTGGGAGAG 0.597000 28 6 0 0 8.12818e-05 0 0 GRHL2 79977 broad.mit.edu 37 8 102555576 102555576 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr8:102555576C>T uc010mbu.3 + 1 458 c.128C>T c.(127-129)cCc>cTc p.P43L GRHL2_uc010mbt.1_Missense_Mutation_p.P43L|GRHL2_uc011lhi.1_Missense_Mutation_p.P43L NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 43 Transcription activation. cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TTGGAGAATCCCCTGACAGCA 0.542000 85 8 0 0 0.000274275 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64511225 64511225 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:64511225G>A uc003jtp.3 - 18 3176 c.2362C>T c.(2362-2364)Cat>Tat p.H788Y ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.H409Y NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 788 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CTCTTGTAATGAAAAGCTGTC 0.393000 55 9 0 0 0.000442599 0 0 LCLAT1 253558 broad.mit.edu 37 2 30748459 30748459 + Missense_Mutation SNP G T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:30748459G>T uc002rnj.3 + 2 326 c.117G>T c.(115-117)atG>atT p.M39I LCLAT1_uc010ymp.2_Intron|LCLAT1_uc002rnk.1_Missense_Mutation_p.M39I|LCLAT1_uc002rnl.3_Missense_Mutation_p.M1I|LCLAT1_uc010ymq.2_Missense_Mutation_p.M1I NM_182551 NP_001002257 Q6UWP7 LCLT1_HUMAN Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA. 39 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 TCAGAATCATGGTGTCATGGA 0.328000 93 8 5.18039e-06 7.36981e-05 0.000157383 1 0 ZBTB40 9923 broad.mit.edu 37 1 22817048 22817048 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:22817048C>T uc001bft.2 + 2 1118 c.607C>T c.(607-609)Cca>Tca p.P203S ZBTB40_uc001bfu.2_Missense_Mutation_p.P203S|ZBTB40_uc009vqi.1_Missense_Mutation_p.P203S NM_001083621 NP_055685 Q9NUA8 ZBT40_HUMAN Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA. 203 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGCAGAAACCCCAGCGGAGAC 0.522000 88 17 0 0 0.000422831 0 0 CCR3 1232 broad.mit.edu 37 3 46307036 46307036 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr3:46307036C>T uc003cpl.2 + 2 1517 c.486C>T c.(484-486)atC>atT p.I162I CCR3_uc003cpg.2_Silent_p.I129I|CCR3_uc003cpk.2_Silent_p.I150I|CCR3_uc003cpi.2_Silent_p.I129I|CCR3_uc010hjb.2_Silent_p.I147I|CCR3_uc003cpj.2_Silent_p.I129I|CCR3_uc021wwz.1_Silent_p.I129I NM_178329 NP_847899 P51677 CCR3_HUMAN Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA. 129 G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TGCTGACAATCGACAGGTACC 0.522000 55 19 0 0 0.000958276 0 0 OASL 8638 broad.mit.edu 37 12 121471302 121471302 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr12:121471302G>A uc001tzj.1 - 1 449 c.443C>T c.(442-444)cCc>cTc p.P148L OASL_uc001tzk.1_Missense_Mutation_p.P148L NM_003733 NP_003724 Q15646 OASL_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA. 148 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GACCGTGATGGGCTCCGCAGT 0.632000 127 26 0 0 0.000147802 0 0 SLC12A3 6559 broad.mit.edu 37 16 56899360 56899360 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr16:56899360C>T uc002ekd.4 + 0 242 c.213C>T c.(211-213)gcC>gcT p.A71A SLC12A3_uc010ccm.3_Silent_p.A71A|SLC12A3_uc010ccn.3_Silent_p.A71A NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 71 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) AGCACTATGCCAACAGCACCC 0.597000 83 10 0 0 0.000442599 0 0 ZNF638 27332 broad.mit.edu 37 2 71577070 71577070 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr2:71577070C>T uc002shx.3 + 1 1309 c.986C>T c.(985-987)cCt>cTt p.P329L ZNF638_uc010fec.2_Missense_Mutation_p.P435L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.P329L|ZNF638_uc002shz.3_Missense_Mutation_p.P329L|ZNF638_uc002shy.3_Missense_Mutation_p.P329L|ZNF638_uc002sia.3_Missense_Mutation_p.P329L|ZNF638_uc002sib.1_Missense_Mutation_p.P329L NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 329 RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCTCTGATTCCTCCATCTATG 0.413000 147 17 0 0 0.000132079 0 0 OR2M3 127062 broad.mit.edu 37 1 248366886 248366886 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:248366886G>A uc010pzg.2 + 0 517 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R172L(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGGGTCTCGGGAAATAGCCCA 0.418000 108 25 0 0 0.00047179 0 0 MGA 23269 broad.mit.edu 37 15 42057258 42057258 + Missense_Mutation SNP C A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:42057258C>A uc010ucy.2 + 22 8100 c.7919C>A c.(7918-7920)cCa>cAa p.P2640Q MGA_uc010ucz.2_Missense_Mutation_p.P2431Q NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2601 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTGGCTCTACCAGGTATGTTG 0.443000 160 9 0.000274275 0.00386278 0.000274275 1 0 GFRAL 389400 broad.mit.edu 37 6 55264062 55264062 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:55264062C>T uc003pcm.1 + 6 1123 c.1037C>T c.(1036-1038)tCc>tTc p.S346F NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 346 integral to membrane receptor activity p.H345Y(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGATTTCATTCCCCCTTCAAT 0.284000 28 7 0 0 0.000274275 0 0 SNX15 29907 broad.mit.edu 37 11 64802341 64802341 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr11:64802341C>T uc001oci.4 + 6 933 c.279C>T c.(277-279)atC>atT p.I93I SNX15_uc001ock.3_Silent_p.I93I NM_013306 NP_037438 Q9NRS6 SNX15_HUMAN Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA. 93 PX. cell communication|intracellular protein transport cytoplasmic vesicle membrane|cytosol phosphatidylinositol binding|protein transporter activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 CCTCAGTGATCGAGGAGCGGC 0.617000 40 7 0 0 0.000673444 0 0 MAGI3 260425 broad.mit.edu 37 1 114189223 114189223 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:114189223C>T uc001edk.3 + 11 2295 c.2114C>T c.(2113-2115)tCt>tTt p.S705F MAGI3_uc001edh.3_Missense_Mutation_p.S730F|MAGI3_uc001edi.4_Missense_Mutation_p.S705F|MAGI3_uc010owm.2_Missense_Mutation_p.S730F|MAGI3_uc001edj.3_Missense_Mutation_p.S426F NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 730 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGGATCCTTCTGAGGTCTAC 0.378000 60 14 0 0 0.000422831 0 0 TCHH 7062 broad.mit.edu 37 1 152082565 152082565 + Missense_Mutation SNP A C C TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr1:152082565A>C uc009wne.1 - 2 3400 c.3128T>G c.(3127-3129)cTc>cGc p.L1043R TCHH_uc001ezp.2_Missense_Mutation_p.L1043R NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 1043 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.L1043R(2) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGCTCCTGGAGTCTTCTTTT 0.592000 62 4 0 0 0.00024832 0 0 KIF25 3834 broad.mit.edu 37 6 168443323 168443323 + Silent SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr6:168443323G>A uc003qwk.1 + 7 1174 c.912G>A c.(910-912)ggG>ggA p.G304G KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA. 304 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCGTCCTGGGGGCTTTGTTGG 0.657000 86 11 0 0 6.40141e-05 0 0 COL5A3 50509 broad.mit.edu 37 19 10097052 10097052 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr19:10097052C>T uc002mmq.1 - 29 2377 c.2291G>A c.(2290-2292)gGg>gAg p.G764E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 764 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CCCCTTCGGCCCCTCAGGACC 0.607000 15 4 0 0 0.00024832 0 0 ACSBG1 23205 broad.mit.edu 37 15 78466040 78466040 + Missense_Mutation SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr15:78466040C>T uc002bdh.3 - 12 2190 c.1984G>A c.(1984-1986)Gaa>Aaa p.E662K ACSBG1_uc010umx.2_Missense_Mutation_p.E420K|ACSBG1_uc010umw.2_Missense_Mutation_p.E658K NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 662 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 ATCCCCTCTTCGATGGCCTGG 0.582000 36 9 0 0 0.000274275 0 0 OSMR 9180 broad.mit.edu 37 5 38886238 38886238 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr5:38886238G>A uc003jln.2 + 6 1339 c.937G>A c.(937-939)Gaa>Aaa p.E313K OSMR_uc003jlm.2_Missense_Mutation_p.E313K NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 313 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) ACTCATAGCTGAAAATTACTT 0.393000 70 13 0 0 0.000308642 0 0 CNKSR2 22866 broad.mit.edu 37 X 21624974 21624974 + Missense_Mutation SNP G A A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chrX:21624974G>A uc004czx.2 + 18 2602 c.2122G>A c.(2122-2124)Gat>Aat p.D708N CNKSR2_uc004czw.3_Missense_Mutation_p.D708N|CNKSR2_uc011mjn.2_Missense_Mutation_p.D659N|CNKSR2_uc011mjo.2_Missense_Mutation_p.D678N|CNKSR2_uc004czy.3_Missense_Mutation_p.D300N NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA. 708 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ACCCCCATATGATACATACCC 0.403000 25 18 0 0 0.000958276 0 0 C14orf159 80017 broad.mit.edu 37 14 91642291 91642291 + Silent SNP C T T TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr14:91642291C>T uc001xyw.2 + 6 973 c.621C>T c.(619-621)atC>atT p.I207I C14orf159_uc010atv.1_Non-coding_Transcript|C14orf159_uc001xyy.2_Silent_p.I207I|C14orf159_uc001xyz.2_Silent_p.I78I|C14orf159_uc001xzb.2_Silent_p.I202I|C14orf159_uc001xyx.2_Silent_p.I190I|C14orf159_uc001xzc.2_Silent_p.I202I|C14orf159_uc001xza.2_Silent_p.I207I|C14orf159_uc001xyv.2_Silent_p.I207I|C14orf159_uc001xze.2_Silent_p.I202I NM_001102368 NP_001095838 Q7Z3D6 CN159_HUMAN Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA. 202 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGTTGGGAATCAAAGAGCTTT 0.488000 66 11 0 0 0.000219431 0 0 GJC1 10052 broad.mit.edu 37 17 42882796 42882796 + Silent SNP C T T rs45478503 byFrequency TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 625ea078-f2fa-4061-9b16-5eff81558723 18363141-4118-43b1-b80b-165b1b0456c2 g.chr17:42882796C>T uc002ihj.3 - 1 901 c.390G>A c.(388-390)acG>acA p.T130T GJC1_uc002ihk.3_Silent_p.T130T|GJC1_uc002ihl.3_Silent_p.T130T|GJC1_uc021tyf.1_Silent_p.T130T NM_005497 NP_005488 P36383 CXG1_HUMAN Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA. 130 cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane p.E129*(1) NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1) 19 Prostate(33;0.0959) TGTCCTCCTCCGTTTCTTCCA 0.483000 73 19 0 0 0.000175454 0 0