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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ADARB2 105 broad.mit.edu 37 10 1284223 1284223 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:1284223G>A ENST00000381312.1 - 5 1657 c.1332C>T c.(1330-1332)ttC>ttT p.F444F NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 444 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGTGTAGAGGAAGTGCAGGA 0.706000 3 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179616292 179616292 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179616292C>T ENST00000360870.5 - 46 11057 c.10835G>A c.(10834-10836)aGa>aAa p.R3612K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9474 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) CCGTTCTGCTCTTTTCAGAAA 0.383000 41 44 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180299 124180299 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:124180299G>A ENST00000357821.2 - 1 434 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) GCAACATAGCGATCATATGCC 0.488000 10 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179529447 179529447 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179529447C>T ENST00000589042.1 - 167 36360 c.36136G>A c.(36136-36138)Gaa>Aaa p.E12046K TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10194 Ig-like 80. 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) GGGACAATTTCTTGGAGAGCT 0.393000 12 14 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278789 47278789 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:47278789G>A ENST00000542575.2 - 8 2232 c.1604C>T c.(1603-1605)tCt>tTt p.S535F SLC1A5_ENST00000434726.2_Missense_Mutation_p.S333F|SLC1A5_ENST00000594991.1_Missense_Mutation_p.S359F|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Missense_Mutation_p.S307F NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 535 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TTCCTTCTCAGAGGCGACCGT 0.587000 91 87 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047337 42047337 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:42047337G>A ENST00000372584.1 - 3 4146 c.3132C>T c.(3130-3132)ttC>ttT p.F1044F HIVEP3_ENST00000247584.5_Silent_p.F1044F|HIVEP3_ENST00000372583.1_Silent_p.F1044F|HIVEP3_ENST00000429157.2_Silent_p.F1044F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1044 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GTCTCACCAAGAAGCATTTTC 0.582000 23 28 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219633 4219633 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:4219633G>A ENST00000600132.1 + 19 3325 c.3049G>A c.(3049-3051)Gag>Aag p.E1017K ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1017K|ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1107K NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1017 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) ACACGCAGCCGAGGCACAGCT 0.642000 59 82 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205628503 205628503 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:205628503G>A ENST00000367145.3 - 5 1816 c.1521C>T c.(1519-1521)tcC>tcT p.S507S SLC45A3_ENST00000460934.1_5'UTR NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 507 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) CCATAAACAGGGATGGGGCCA 0.622000 T """ETV1, ETV5, ELK4, ERG""" prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 43 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 54 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44181842 44181842 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:44181842G>A ENST00000357199.4 - 5 597 c.519C>T c.(517-519)atC>atT p.I173I WFDC8_ENST00000289953.2_Silent_p.I173I NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 173 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) GGGGACAATCGATGTCACTGT 0.463000 43 40 0 0 1 0 0 ANKRD16 54522 broad.mit.edu 37 10 5920177 5920177 + Silent SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:5920177A>T ENST00000380094.5 - 7 1545 c.1002T>A c.(1000-1002)tcT>tcA p.S334S ANKRD16_ENST00000380092.4_Silent_p.S334S|ANKRD16_ENST00000191063.8_3'UTR NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 334 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 TGATGTCTTCAGAATCCTTCA 0.557000 42 74 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 4 12 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99621867 99621867 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:99621867C>T ENST00000324306.6 + 3 751 c.517C>T c.(517-519)Cac>Tac p.H173Y ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.H137Y NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 173 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TGACCTTCATCACGAGGCCAC 0.532000 31 49 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179338084 179338084 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:179338084C>T ENST00000367618.3 + 3 634 c.247C>T c.(247-249)Cct>Tct p.P83S AXDND1_ENST00000457238.2_Missense_Mutation_p.P83S|AXDND1_ENST00000461179.2_Intron NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 83 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CTTACTACCTCCTAAGAAAAT 0.373000 27 28 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154112302 154112302 + Silent SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:154112302A>G ENST00000368559.3 - 5 764 c.693T>C c.(691-693)gtT>gtC p.V231V NUP210L_ENST00000271854.3_Silent_p.V231V NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 231 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATGAATTCGAACTTTTACAA 0.363000 159 156 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372639 175372639 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:175372639G>A ENST00000367674.1 - 4 1321 c.613C>T c.(613-615)Ccg>Tcg p.P205S TNR_ENST00000263525.2_Missense_Mutation_p.P205S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 205 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAACCCAGCGGGCAGTAGGGC 0.592000 136 170 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80042406 80042406 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:80042406G>A ENST00000306749.2 - 27 4969 c.4751C>T c.(4750-4752)tCc>tTc p.S1584F NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1584 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GGCATCAGGGGACAGCTTGCC 0.682000 10 1 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763921 82763921 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:82763921G>A ENST00000423517.2 - 3 3282 c.2945C>T c.(2944-2946)tCc>tTc p.S982F PCLO_ENST00000333891.8_Missense_Mutation_p.S982F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 928 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGACCTGTGGATTTGGGTGG 0.522000 14 11 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52309829 52309829 + Missense_Mutation SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:52309829T>G ENST00000550683.1 + 7 1201 c.1100T>G c.(1099-1101)gTg>gGg p.V367G ACVRL1_ENST00000388922.4_Missense_Mutation_p.V353G|ACVRL1_ENST00000419526.2_Missense_Mutation_p.V179G NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 353 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GGCCTGGCTGTGATGCACTCA 0.632000 68 66 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 823261 823261 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:823261G>A ENST00000293892.3 - 10 2006 c.2007C>T c.(2005-2007)ttC>ttT p.F669F MSLNL_ENST00000442466.1_Silent_p.F318F Q96KJ4 MSLNL_HUMAN mesothelin-like 318 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 AGTGCACCAGGAAGAGGTCGT 0.647000 44 57 0 0 1 0 0 SYF2 25949 broad.mit.edu 37 1 25555608 25555608 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:25555608C>T ENST00000236273.4 - 3 164 c.139G>A c.(139-141)Gct>Act p.A47T SYF2_ENST00000354361.3_Intron NM_015484.4 NP_056299.1 O95926 SYF2_HUMAN SYF2 pre-mRNA-splicing factor 47 catalytic step 2 spliceosome kidney(1)|large_intestine(1)|lung(4) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) AATTTACGAGCTTCATTCTAA 0.383000 29 39 0 0 1 0 0 VPS26A 9559 broad.mit.edu 37 10 70916829 70916829 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:70916829G>A ENST00000373382.1 + 5 949 c.296G>A c.(295-297)gGa>gAa p.G99E VPS26A_ENST00000546041.1_Missense_Mutation_p.G82E|VPS26A_ENST00000395098.1_Missense_Mutation_p.G99E|VPS26A_ENST00000489794.1_Missense_Mutation_p.G74E|VPS26A_ENST00000263559.6_Missense_Mutation_p.G99E|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_5'UTR O75436 VP26A_HUMAN vacuolar protein sorting 26 homolog A (S. pombe) 99 retrograde transport, endosome to Golgi|vacuolar transport cytosol|endosome membrane|retromer complex|vesicle protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2) 8 GCCTTACCTGGAGAACTGACT 0.348000 11 38 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130230109 130230109 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:130230109G>A ENST00000323301.4 + 9 1223 c.619_splice c.e9+1 p.E207_splice LRSAM1_ENST00000373322.1_Splice_Site_p.E207_splice|LRSAM1_ENST00000373324.4_Splice_Site_p.E207_splice|LRSAM1_ENST00000300417.6_Splice_Site_p.E207_splice NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 207 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CCTCTGCAAAGGTAAAGCCAG 0.632000 5 12 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129251489 129251489 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:129251489C>T ENST00000296271.3 + 4 904 c.810C>T c.(808-810)agC>agT p.S270S NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 270 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) CCTACGCCAGCGTGGCATTCT 0.572000 27 28 0 0 1 0 0 ADAD1 132612 broad.mit.edu 37 4 123333824 123333824 + Missense_Mutation SNP T T C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:123333824T>C ENST00000296513.2 + 10 1294 c.1109T>C c.(1108-1110)gTt>gCt p.V370A ADAD1_ENST00000388725.2_Missense_Mutation_p.V352A|ADAD1_ENST00000388724.2_Missense_Mutation_p.V359A NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 370 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding p.V370A(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TATCTGACTGTTTACTGTCCT 0.408000 68 63 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759756 196759756 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:196759756C>T ENST00000312428.6 - 30 4940 c.4840G>A c.(4840-4842)Gga>Aga p.G1614R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1614 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G1614R(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTAGTTTTTCCTCCAAATGGT 0.318000 20 14 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18688694 18688694 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:18688694C>T ENST00000251296.1 + 5 893 c.510C>T c.(508-510)tgC>tgT p.C170C NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 170 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CGCTGGTCTGCATCGTGTCTG 0.612000 14 19 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16753612 16753612 + Silent SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:16753612G>T ENST00000320122.6 - 2 705 c.183C>A c.(181-183)atC>atA p.I61I LMO3_ENST00000541846.1_Silent_p.I61I|LMO3_ENST00000441439.2_Silent_p.I61I|LMO3_ENST00000537304.1_Silent_p.I61I|LMO3_ENST00000541295.1_Silent_p.I79I|LMO3_ENST00000447609.1_Silent_p.I61I|LMO3_ENST00000535535.1_Silent_p.I61I|LMO3_ENST00000354662.1_Silent_p.I61I|LMO3_ENST00000540848.1_Silent_p.I61I|LMO3_ENST00000534946.1_Silent_p.I61I|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000261169.6_Silent_p.I72I|LMO3_ENST00000537568.1_Intron NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 61 LIM zinc-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) TGCGACAAAGGATAAGATTAG 0.448000 24 34 1.55469e-16 1.56641e-16 1 1 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-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) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 132 108 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41176815 41176815 + Silent SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41176815A>G ENST00000263413.3 - 8 1194 c.930T>C c.(928-930)gaT>gaC p.D310D C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.D310D NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 310 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TAAAACTAGAATCCTAAATGG 0.308000 8 8 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146271487 146271487 + Missense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:146271487C>A ENST00000367503.3 - 4 1293 c.895G>T c.(895-897)Gca>Tca p.A299S SHPRH_ENST00000367505.2_Missense_Mutation_p.A299S|SHPRH_ENST00000275233.7_Missense_Mutation_p.A299S|SHPRH_ENST00000438092.2_Missense_Mutation_p.A299S NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 299 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) GGGATCAATGCAGGATGCTGG 0.463000 53 72 1.14385e-22 1.1583e-22 1 1 0 HRC 3270 broad.mit.edu 37 19 49656898 49656898 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:49656898C>T ENST00000252825.4 - 1 1783 c.1597G>A c.(1597-1599)Gag>Aag p.E533K HRC_ENST00000595625.1_Missense_Mutation_p.E533K NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 533 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) tcttcctcctcctGGTTCAGG 0.587000 12 14 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79525461 79525461 + Nonsense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:79525461C>T ENST00000264908.6 + 12 1199 c.820C>T c.(820-822)Cga>Tga p.R274* ANXA3_ENST00000503570.2_Nonsense_Mutation_p.R235*|ANXA3_ENST00000512884.1_Nonsense_Mutation_p.R235* NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 274 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 TACTCTGAACCGAATAATGGT 0.368000 44 31 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886005 57886005 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:57886005G>A ENST00000302610.1 - 1 911 c.912C>T c.(910-912)gtC>gtT p.V304V OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V304V(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GTCTCCTAGCGACCTTTCTGA 0.428000 41 24 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656659 40656659 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:40656659C>T ENST00000406785.1 - 2 951 c.762G>A c.(760-762)agG>agA p.R254R SLC8A1_ENST00000405269.1_Silent_p.R254R|SLC8A1_ENST00000332839.4_Silent_p.R254R|SLC8A1_ENST00000403092.1_Silent_p.R254R|SLC8A1_ENST00000542024.1_Silent_p.R254R|SLC8A1_ENST00000402441.1_Silent_p.R254R|SLC8A1_ENST00000408028.2_Silent_p.R254R|SLC8A1_ENST00000542756.1_Silent_p.R254R|SLC8A1_ENST00000406391.2_Silent_p.R254R|SLC8A1_ENST00000405901.3_Silent_p.R254R P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 254 Calmodulin-binding (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACAGAAGTCTCCTATCCGCTA 0.453000 49 49 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169699572 169699572 + Splice_Site SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:169699572C>T ENST00000333360.7 - 5 855 c.e5+1 SELE_ENST00000367776.1_Splice_Site|SELE_ENST00000367777.1_Splice_Site|SELE_ENST00000367775.1_Intron|SELE_ENST00000367782.4_Splice_Site|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Splice_Site|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Splice_Site|SELE_ENST00000367774.1_Splice_Site NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GAGGGATTTACCATTGCAGGC 0.438000 34 68 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80647328 80647328 + Silent SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:80647328A>C ENST00000458043.2 + 13 1347 c.1341A>C c.(1339-1341)tcA>tcC p.S447S OTOGL_ENST00000547103.1_Silent_p.S447S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CAGTTGGTTCAAAAATTGAAC 0.388000 24 29 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432386 179432386 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179432386C>T ENST00000589042.1 - 326 78697 c.78473G>A c.(78472-78474)aGa>aAa p.R26158K TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17218K|TTN_ENST00000342175.6_Missense_Mutation_p.R17285K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24517K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23590K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17093K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24517 Fibronectin type-III 90. 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) GAATTCATATCTTTGATCTTC 0.408000 21 28 0 0 1 0 0 SIRT6 51548 broad.mit.edu 37 19 4179205 4179205 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:4179205G>A ENST00000337491.2 - 3 337 c.273C>T c.(271-273)ccC>ccT p.P91P SIRT6_ENST00000601488.1_Intron|SIRT6_ENST00000305232.6_Silent_p.P91P|SIRT6_ENST00000381935.3_Silent_p.P19P|SIRT6_ENST00000594279.1_Silent_p.P19P NM_016539.2 NP_057623.2 Q8N6T7 SIRT6_HUMAN sirtuin 6 91 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTCTGCGTGGGCCGCGCGC 0.682000 9 14 0 0 1 0 0 REEP4 80346 broad.mit.edu 37 8 21997708 21997708 + Silent SNP G G A rs146312249 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:21997708G>A ENST00000306306.3 - 3 627 c.159C>T c.(157-159)atC>atT p.I53I REEP4_ENST00000523293.1_Silent_p.I53I|REEP4_ENST00000334530.5_Silent_p.I53I NM_025232.2 NP_079508.2 Q9H6H4 REEP4_HUMAN receptor accessory protein 4 53 integral to membrane kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 7 Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993) TGTCTGTAACGATCTCTGCTG 0.597000 6 90 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768441 57768441 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:57768441C>T ENST00000371030.2 + 1 2367 c.2367C>T c.(2365-2367)gcC>gcT p.A789A NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 789 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGGAGGTGCCCGAGGTGTGG 0.657000 17 19 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11031728 11031728 + Missense_Mutation SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:11031728A>C ENST00000327064.4 + 14 1730 c.1540A>C c.(1540-1542)Atg>Ctg p.M514L CARM1_ENST00000344150.4_Missense_Mutation_p.M514L NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 514 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 GGACACAGGGATGCCGACCGC 0.667000 20 34 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204163 106204163 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106204163G>A ENST00000390548.2 - 0 1135 GTCCACCACCGAGGAGAAGAT 0.667000 73 111 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232100035 232100035 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:232100035C>T ENST00000349938.4 + 8 915 c.721C>T c.(721-723)Ctc>Ttc p.L241F ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 241 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) CTACCACAATCTCATTGGAGT 0.488000 23 30 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58605024 58605024 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:58605024C>T ENST00000267485.7 - 2 1247 c.1053G>A c.(1051-1053)gaG>gaA p.E351E C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 351 integral to membrane binding p.E351_G352>DC(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 CTTCCATACCCTCATGGCTTA 0.552000 66 107 0 0 1 0 0 BATF2 116071 broad.mit.edu 37 11 64757232 64757232 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:64757232G>A ENST00000301887.4 - 3 324 c.194C>T c.(193-195)tCc>tTc p.S65F BATF2_ENST00000435842.2_5'UTR|BATF2_ENST00000527716.1_Missense_Mutation_p.S41F NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 65 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 GGCCTGCAGGGACTGGATCTC 0.652000 11 28 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47119686 47119686 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:47119686G>A ENST00000290341.3 + 9 1358 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E203K NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 342 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.E342K(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCCGAGCAGGAAATAATGAA 0.517000 58 1 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110401307 110401307 + Splice_Site SNP G G C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:110401307G>C ENST00000378402.5 + 8 727 c.e8-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 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) TTTTTAATTAGATATGGTCTA 0.289000 HNSCC(38;0.096) 21 25 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752551 2752551 + Missense_Mutation SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:2752551G>T ENST00000515640.1 + 1 192 c.173G>T c.(172-174)tGg>tTg p.W58L C5orf38_ENST00000397835.4_Missense_Mutation_p.W58L|C5orf38_ENST00000457752.2_Missense_Mutation_p.W58L|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000334000.3_Missense_Mutation_p.W58L|C5orf38_ENST00000505778.1_Missense_Mutation_p.W58L Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 58 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GGGGCGCCTTGGTTGCGAATT 0.677000 6 11 3.59834e-05 3.61637e-05 1 1 0 TESPA1 9840 broad.mit.edu 37 12 55355009 55355009 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55355009G>A ENST00000524622.1 - 8 1757 c.1096C>T c.(1096-1098)Ccc>Tcc p.P366S TESPA1_ENST00000531122.1_Missense_Mutation_p.P366S|TESPA1_ENST00000532804.1_Missense_Mutation_p.P366S|TESPA1_ENST00000449076.1_Missense_Mutation_p.P504S|TESPA1_ENST00000316577.8_Missense_Mutation_p.P504S NM_001261844.1|NM_014796.2 NP_001248773.1|NP_055611.1 A2RU30 K0748_HUMAN thymocyte expressed, positive selection associated 1 504 GGTCTGCTGGGCCAGCGACTC 0.567000 113 122 0 0 1 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41442375 41442375 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:41442375G>A ENST00000599198.1 + 0 467 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TTCGGGATGGGAAAGCGGAGT 0.552000 16 18 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156825262 156825262 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:156825262G>A ENST00000536354.2 + 2 192 c.128G>A c.(127-129)gGg>gAg p.G43E NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 43 Substrate binding (By similarity). tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTTATCTATGGGAACTACCTG 0.413000 20 8 0 0 1 0 0 CCNG2 901 broad.mit.edu 37 4 78082696 78082696 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:78082696C>T ENST00000316355.5 + 5 947 c.591C>T c.(589-591)atC>atT p.I197I CCNG2_ENST00000395640.1_Silent_p.I197I|CCNG2_ENST00000354403.5_Silent_p.I197I|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Silent_p.I197I|CCNG2_ENST00000502280.1_Silent_p.I197I NM_004354.2 NP_004345.1 Q16589 CCNG2_HUMAN cyclin G2 197 cell cycle checkpoint|cell division|mitosis cytoplasm breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 GCCGACTCATCTTTTCAAAAG 0.294000 11 22 0 0 1 0 0 SLC16A11 162515 broad.mit.edu 37 17 6945575 6945575 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:6945575G>A ENST00000308009.1 - 3 1263 c.926C>T c.(925-927)cCg>cTg p.P309L SLC16A11_ENST00000447225.1_Missense_Mutation_p.P285L NM_153357.1 NP_699188.1 Q8NCK7 MOT11_HUMAN solute carrier family 16, member 11 309 integral to membrane|plasma membrane symporter activity endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2) 9 CAGCAGCCGCGGGAGGGGCAC 0.741000 5 0 0 0 1 0 0 EEF1D 1936 broad.mit.edu 37 8 144672257 144672257 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:144672257G>A ENST00000532741.1 - 1 373 c.145C>T c.(145-147)Cgg>Tgg p.R49W EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000442189.2_Intron|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000526838.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) 0 positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CTCATCTTCCGGACACAGCGA 0.657000 35 39 0 0 1 0 0 TNFSF18 8995 broad.mit.edu 37 1 173010511 173010511 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:173010511G>A ENST00000404377.3 - 3 596 c.596C>T c.(595-597)tCc>tTc p.S199F RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.S177F NM_005092.3 NP_005083.2 Q9UNG2 TNF18_HUMAN tumor necrosis factor (ligand) superfamily, member 18 199 anti-apoptosis|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding p.S177F(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 9 AAGTCTCTAGGAGATGAATTG 0.408000 13 19 0 0 1 0 0 FASLG 356 broad.mit.edu 37 1 172628636 172628636 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:172628636C>T ENST00000367721.2 + 1 479 c.295C>T c.(295-297)Ctg>Ttg p.L99L FASLG_ENST00000340030.3_Silent_p.L99L NM_000639.1 NP_000630.1 P48023 TNFL6_HUMAN Fas ligand (TNF superfamily, member 6) 99 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 AGGATTGGGCCTGGGGATGTT 0.567000 11 18 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89809283 89809283 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:89809283C>T ENST00000389301.3 - 37 3720 c.3690G>A c.(3688-3690)ctG>ctA p.L1230L FANCA_ENST00000568369.1_Silent_p.L1230L NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 1230 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) TCGCAAAGTGCAGTGCAGCAG 0.537000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 57 63 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537910 55537910 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:55537910G>A ENST00000220676.1 + 4 1616 c.1468G>A c.(1468-1470)Gaa>Aaa p.E490K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 490 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAAGAAAGGGAAAGTGGGGA 0.358000 30 28 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48683676 48683676 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:48683676G>A ENST00000544264.1 - 23 7605 c.7325C>T c.(7324-7326)cCc>cTc p.P2442L CELSR3_ENST00000164024.4_Missense_Mutation_p.P2437L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2437 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTTCATGACGGGGTTCTGAGG 0.612000 21 35 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151453191 151453191 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:151453191C>T ENST00000370314.4 - 4 517 c.279G>A c.(277-279)gtG>gtA p.V93V GABRA3_ENST00000535043.1_Silent_p.V93V|GABRA3_ENST00000370311.1_Silent_p.V93V NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 93 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTCAGTCTTCACTTCAGTCA 0.438000 32 3 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578530 7578530 + Missense_Mutation SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:7578530A>G ENST00000420246.2 - 5 532 c.400T>C c.(400-402)Ttt>Ctt p.F134L TP53_ENST00000445888.2_Missense_Mutation_p.F134L|TP53_ENST00000413465.2_Missense_Mutation_p.F134L|TP53_ENST00000455263.2_Missense_Mutation_p.F134L|TP53_ENST00000359597.4_Missense_Mutation_p.F134L|TP53_ENST00000269305.4_Missense_Mutation_p.F134L NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 134 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F134L(16)|p.F134V(12)|p.0?(8)|p.C135fs*35(5)|p.M133fs*36(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F2V(1)|p.F41V(1)|p.S127fs*36(1)|p.?(1)|p.Y126fs*11(1)|p.F134fs*39(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F41L(1)|p.F2L(1)|p.M133fs*13(1)|p.M40fs*36(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) AGTTGGCAAAACATCTTGTTG 0.567000 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) 17 1 0 0 1 0 0 KCNN1 3780 broad.mit.edu 37 19 18092614 18092614 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:18092614C>T ENST00000601725.1 + 0 230 GTGCGCCATTCACCCGGTGCC 0.662000 19 19 0 0 1 0 0 ZNF826P 664701 broad.mit.edu 37 19 20607701 20607701 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:20607701G>A ENST00000502675.1 - 0 61 NR_036455.1 large_intestine(4) 4 ACAGAGCAGTGAACAAGAGAT 0.577000 7 7 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202339374 202339374 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:202339374C>T ENST00000194530.3 + 6 685 c.320C>T c.(319-321)gCc>gTc p.A107V STRADB_ENST00000392249.2_Missense_Mutation_p.A107V NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 107 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 TCCTAGAAAGCCGTGATTCTA 0.408000 42 41 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607989 68607989 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:68607989G>A ENST00000234313.7 + 3 512 c.333G>A c.(331-333)agG>agA p.R111R NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 111 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AATTTGCCAGGAAATCTACCA 0.463000 63 84 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599814 29599814 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:29599814G>A ENST00000431530.3 + 1 1067 c.1009G>A c.(1009-1011)Gcc>Acc p.A337T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 327 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGGAAAGGCAGCCCAGGAAGG 0.542000 29 37 0 0 1 0 0 OSGEP 55644 broad.mit.edu 37 14 20915794 20915794 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:20915794C>T ENST00000555656.1 - 5 2269 c.252G>A c.(250-252)cgG>cgA p.R84R OSGEP_ENST00000206542.4_Silent_p.R283R|OSGEP_ENST00000554249.1_Silent_p.R101R Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 283 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) TAGCAAAAAGCCGGGCTCCAC 0.433000 27 17 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49448473 49448473 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:49448473C>T ENST00000374201.3 - 6 932 c.630G>A c.(628-630)agG>agA p.R210R FRMPD2_ENST00000407470.4_Silent_p.R179R|FRMPD2_ENST00000305531.3_Silent_p.R186R NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 210 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCAGCCTCTTCCTGAGCAGGT 0.587000 12 21 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447897 24447897 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:24447897G>A ENST00000270800.1 - 7 1161 c.1123C>T c.(1123-1125)Cca>Tca p.P375S NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 375 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) GCGTAGAATGGGAATTGAGCT 0.617000 92 76 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17056374 17056374 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:17056374C>T ENST00000418129.2 + 3 3076 c.2611C>T c.(2611-2613)Ctg>Ttg p.L871L PLCL2_ENST00000396755.2_Silent_p.L871L|PLCL2_ENST00000432376.1_Silent_p.L871L NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 997 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GCCGGAGGTTCTGAAGAAGAT 0.502000 68 90 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911365 100911365 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:100911365G>A ENST00000328766.5 - 5 1663 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* ARMCX2_ENST00000356824.4_Nonsense_Mutation_p.Q404*|ARMCX2_ENST00000330154.2_Nonsense_Mutation_p.Q404* NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 404 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 GCTACCTGTTGGATGAAAGGA 0.453000 42 3 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32948438 32948438 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:32948438C>T ENST00000395289.2 + 14 4055 c.2454C>T c.(2452-2454)tcC>tcT p.S818S BRD2_ENST00000374831.4_Silent_p.S783S|BRD2_ENST00000443797.2_Silent_p.S663S|BRD2_ENST00000449085.2_Silent_p.S736S|BRD2_ENST00000395287.1_Silent_p.S818S|BRD2_ENST00000374825.4_Silent_p.S783S P25440 BRD2_HUMAN bromodomain containing 2 783 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 GCTCAGATTCCAGCTCCTCCT 0.552000 38 45 0 0 1 0 0 SH2D5 400745 broad.mit.edu 37 1 21049315 21049315 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:21049315C>T ENST00000375031.1 - 8 1374 c.750G>A c.(748-750)gtG>gtA p.V250V SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.V334V NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 250 SH2. lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACTGCGTGCGCACGGACAGAC 0.692000 3 7 0 0 1 0 0 BMP2 650 broad.mit.edu 37 20 6759103 6759103 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:6759103C>T ENST00000378827.4 + 3 1777 c.558C>T c.(556-558)ttC>ttT p.F186F NM_001200.2 NP_001191.1 P12643 BMP2_HUMAN bone morphogenetic protein 2 186 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 13 Simvastatin(DB00641) ACTCGAAATTCCCCGTGACCA 0.458000 30 34 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20774298 20774298 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:20774298C>T ENST00000359062.3 + 5 1533 c.1493C>T c.(1492-1494)gCt>gTt p.A498V PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 498 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TCATCCTATGCTATTTCTGCA 0.398000 18 21 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430789 37430789 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:37430789G>A ENST00000374660.1 + 7 895 c.796G>A c.(796-798)Gaa>Aaa p.E266K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E266K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E266K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACC 0.478000 12 34 0 0 1 0 0 SETD4 54093 broad.mit.edu 37 21 37417938 37417938 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:37417938G>A ENST00000399215.1 - 5 2040 c.668C>T c.(667-669)cCg>cTg p.P223L SETD4_ENST00000399201.1_Missense_Mutation_p.P199L|SETD4_ENST00000399207.1_Missense_Mutation_p.P223L|SETD4_ENST00000399212.1_Missense_Mutation_p.P199L|SETD4_ENST00000399208.2_Missense_Mutation_p.P223L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.P223L|SETD4_ENST00000399205.1_Missense_Mutation_p.P199L Q9NVD3 SETD4_HUMAN SET domain containing 4 223 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 ACAGGTGTCCGGCTCTGCAGA 0.572000 41 44 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110370892 110370892 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:110370892G>A ENST00000360185.4 - 19 2185 c.2021C>T c.(2020-2022)tCa>tTa p.S674L GIT2_ENST00000551209.1_Missense_Mutation_p.S673L|GIT2_ENST00000553118.1_Missense_Mutation_p.S596L|GIT2_ENST00000361006.5_Missense_Mutation_p.S694L|GIT2_ENST00000354574.4_Missense_Mutation_p.S646L|GIT2_ENST00000355312.3_Missense_Mutation_p.S724L|GIT2_ENST00000356259.4_Missense_Mutation_p.S611L|GIT2_ENST00000457474.2_Missense_Mutation_p.S646L|GIT2_ENST00000338373.5_Missense_Mutation_p.S626L|GIT2_ENST00000343646.5_Missense_Mutation_p.S614L|TCHP_ENST00000550780.1_Intron Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 724 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 GTCTGTGGGTGAGCCGGGGTc 0.577000 22 15 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7679270 7679270 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:7679270G>A ENST00000256861.6 - 5 651 c.573C>T c.(571-573)atC>atT p.I191I ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.I191I|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I191I NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 191 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.I191I(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CGCTCTCCAGGATATTCACGT 0.652000 54 39 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53452406 53452406 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:53452406C>T ENST00000314250.6 + 16 1566 c.1276C>T c.(1276-1278)Ccc>Tcc p.P426S TENC1_ENST00000379902.3_Missense_Mutation_p.P302S|TENC1_ENST00000549700.1_Missense_Mutation_p.P426S|TENC1_ENST00000552570.1_Missense_Mutation_p.P426S|TENC1_ENST00000314276.3_Missense_Mutation_p.P436S|TENC1_ENST00000546602.1_Missense_Mutation_p.P426S|TENC1_ENST00000451358.1_Missense_Mutation_p.P426S NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 426 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CTCCTCCAGCCCCGAGAAGAT 0.607000 27 25 0 0 1 0 0 IRGQ 126298 broad.mit.edu 37 19 44097263 44097263 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:44097263G>A ENST00000422989.1 - 3 942 c.787C>T c.(787-789)Ccc>Tcc p.P263S IRGQ_ENST00000602269.1_Missense_Mutation_p.P263S NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 263 protein binding endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) GCTGGGAAGGGAGTGGGTGCT 0.692000 13 13 0 0 1 0 0 TIPIN 54962 broad.mit.edu 37 15 66641432 66641432 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:66641432G>A ENST00000261881.4 - 6 526 c.441C>T c.(439-441)ctC>ctT p.L147L TIPIN_ENST00000367709.4_Silent_p.L46L NM_017858.2 NP_060328.2 Q9BVW5 TIPIN_HUMAN TIMELESS interacting protein 147 cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection cytoplasm|nuclear chromatin protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 7 GTAAAATAGGGAGATCAAGTC 0.303000 5 16 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 206992629 206992629 + Missense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:206992629C>A ENST00000233190.5 - 16 2042 c.1776G>T c.(1774-1776)aaG>aaT p.K592N NDUFS1_ENST00000440274.1_Missense_Mutation_p.K556N|NDUFS1_ENST00000432169.1_Missense_Mutation_p.K481N|NDUFS1_ENST00000423725.1_Missense_Mutation_p.K535N|NDUFS1_ENST00000457011.1_Missense_Mutation_p.K476N|NDUFS1_ENST00000455934.2_Missense_Mutation_p.K606N|NDUFS1_ENST00000449699.1_Missense_Mutation_p.K592N NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) 592 apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) ATGTAGCAGACTTCTCTGTGT 0.458000 3 56 0.115264 0.115552 1 1 0 GUCA1C 9626 broad.mit.edu 37 3 108635019 108635019 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108635019C>T ENST00000261047.3 - 3 529 c.397G>A c.(397-399)Gaa>Aaa p.E133K GUCA1C_ENST00000393963.3_Missense_Mutation_p.E133K|GUCA1C_ENST00000471108.1_Missense_Mutation_p.E133K NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 133 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TTGATGAATTCTTCAGGACTC 0.403000 59 68 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86199302 86199302 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:86199302C>T ENST00000361228.3 - 2 854 c.486G>A c.(484-486)agG>agA p.R162R NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 162 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAAAGTTTTCCTGACTATTC 0.388000 59 72 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148742246 148742246 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:148742246C>T ENST00000274569.4 + 2 197 c.135C>T c.(133-135)ctC>ctT p.L45L PCYOX1L_ENST00000514349.1_5'UTR NM_024028.3 NP_076933.3 Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 45 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCATTTTCTCCAGCAGCACT 0.587000 58 3 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169053734 169053734 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:169053734G>A ENST00000354536.5 + 11 1364 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K SMOC2_ENST00000356284.2_Missense_Mutation_p.E371K NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 371 EF-hand 1. signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CGGCAAAAAGGAAATCAAACC 0.443000 42 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179458554 179458554 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179458554C>T ENST00000589042.1 - 298 58697 c.58473G>A c.(58471-58473)gaG>gaA p.E19491E TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.E10551E|TTN_ENST00000342175.6_Silent_p.E10618E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.E17850E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.E16923E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.E10426E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17850 Fibronectin type-III 41. 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) CTTTGGTCACCTCATCAAAAC 0.388000 7 4 0 0 1 0 0 LSR 51599 broad.mit.edu 37 19 35749931 35749931 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:35749931G>A ENST00000602122.1 + 3 1169 c.682G>A c.(682-684)Ggg>Agg p.G228R LSR_ENST00000361790.3_Missense_Mutation_p.G228R|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000360798.3_Missense_Mutation_p.G228R|LSR_ENST00000354900.3_Missense_Mutation_p.G228R|LSR_ENST00000347609.4_Missense_Mutation_p.G191R Q86X29 LSR_HUMAN lipolysis stimulated lipoprotein receptor 228 Ig-like V-type. embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GGACCTCCAGGGGAACAATGA 0.592000 30 56 0 0 1 0 0 TRBV20-1 28567 broad.mit.edu 37 7 142334808 142334808 + RNA SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:142334808A>C ENST00000390394.3 + 0 308 CAAGGCGTCGAGAAGGACAAG 0.512000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 55 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522093 7522093 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7522093G>A ENST00000313599.3 - 15 3956 c.3899C>T c.(3898-3900)tCg>tTg p.S1300L CD163L1_ENST00000396630.1_Missense_Mutation_p.S1300L|CD163L1_ENST00000416109.2_Missense_Mutation_p.S1310L Q9NR16 C163B_HUMAN CD163 molecule-like 1 1300 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CTGGCCAAACGAAGCGTCCCT 0.587000 65 65 0 0 1 0 0 GADD45B 4616 broad.mit.edu 37 19 2477183 2477183 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:2477183C>T ENST00000215631.4 + 3 535 c.303C>T c.(301-303)ctC>ctT p.L101L GADD45B_ENST00000587345.1_Silent_p.L101L NM_015675.3 NP_056490.2 O75293 GA45B_HUMAN growth arrest and DNA-damage-inducible, beta 101 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress cervix(2)|lung(1)|ovary(1) 4 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) TGGCGCAGCTCCTGGGAGAGC 0.662000 OREG0025141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 46 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13629110 13629110 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:13629110C>T ENST00000378572.3 + 1 184 c.24C>T c.(22-24)atC>atT p.I8I NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 8 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 AATCAGAGATCCTTCGGAAGC 0.612000 76 55 0 0 1 0 0 FTSJ2 29960 broad.mit.edu 37 7 2274938 2274938 + Missense_Mutation SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:2274938G>T ENST00000242257.8 - 3 588 c.560C>A c.(559-561)cCt>cAt p.P187H FTSJ2_ENST00000407040.1_Missense_Mutation_p.P93H|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR NM_013393.1 NP_037525.1 Q9UI43 RRMJ2_HUMAN FtsJ RNA methyltransferase homolog 2 (E. coli) 187 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) TGTCCCCCCAGGTTGCAGGAT 0.547000 29 54 1.88708e-17 1.9061e-17 1 1 0 IL37 27178 broad.mit.edu 37 2 113676334 113676334 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:113676334C>T ENST00000263326.3 + 5 647 c.605C>T c.(604-606)tCa>tTa p.S202L IL37_ENST00000353225.3_Missense_Mutation_p.S162L|IL37_ENST00000311328.2_Missense_Mutation_p.S176L|IL37_ENST00000349806.3_Missense_Mutation_p.S141L|IL37_ENST00000352179.3_Missense_Mutation_p.S181L NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 202 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 ATTGAATTTTCATTTCAACCA 0.458000 19 47 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205549915 205549915 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:205549915C>T ENST00000367147.4 + 3 649 c.556C>T c.(556-558)Cat>Tat p.H186Y MFSD4_ENST00000536357.1_Intron|MFSD4_ENST00000539267.1_Missense_Mutation_p.H186Y NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 186 transmembrane transport integral to membrane p.H186N(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) CCACCTGTTCCATGTCTCCAG 0.617000 35 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585769 179585769 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179585769G>A ENST00000589042.1 - 79 23201 c.22977C>T c.(22975-22977)ttC>ttT p.F7659F TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.F7342F|TTN_ENST00000342992.6_Silent_p.F6415F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7342 Ig-like 58. 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) CAGAATTAATGAATGACATGT 0.423000 29 48 0 0 1 0 0 CCDC171 203238 broad.mit.edu 37 9 15920413 15920413 + Missense_Mutation SNP T T C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:15920413T>C ENST00000380701.3 + 25 4074 c.3746T>C c.(3745-3747)tTa>tCa p.L1249S CCDC171_ENST00000486641.2_3'UTR NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 1249 AATGCAAGTTTACAATCAGTA 0.313000 19 1 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117217093 117217093 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:117217093C>T ENST00000257575.4 + 7 1055 c.822C>T c.(820-822)acC>acT p.T274T RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.T274T|RNFT2_ENST00000392549.2_Silent_p.T274T Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 274 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) AGTACATCACCATCGCCCTCA 0.557000 59 52 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394705 86394705 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:86394705G>A ENST00000361669.2 + 2 1343 c.244G>A c.(244-246)Gat>Aat p.D82N GRM3_ENST00000439827.1_Missense_Mutation_p.D82N|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.D80N|GRM3_ENST00000536043.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 82 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AATCAACAAAGATGATTACTT 0.443000 55 77 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354348 17354348 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:17354348C>T ENST00000511821.1 + 0 207 FTH1P10_ENST00000401830.3_RNA GTTCCCTCTCCTCATGAGATT 0.473000 55 71 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092728 151092728 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:151092728C>T ENST00000370335.1 + 3 859 c.592C>T c.(592-594)Ccc>Tcc p.P198S MAGEA4_ENST00000370340.3_Missense_Mutation_p.P198S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P198S|MAGEA4_ENST00000393920.1_Missense_Mutation_p.P198S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P198S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P198S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P198S P43358 MAGA4_HUMAN melanoma antigen family A, 4 198 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TCAGATCTTTCCCAAGACAGG 0.557000 72 1 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508794 71508794 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:71508794G>A ENST00000396073.3 + 9 1932 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 551 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) ATACCCTGAGGAAATCCCTTC 0.428000 51 132 0 0 1 0 0 CDC25B 994 broad.mit.edu 37 20 3784181 3784181 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:3784181G>A ENST00000245960.5 + 14 2184 c.1487G>A c.(1486-1488)cGc>cAc p.R496H CDC25B_ENST00000340833.4_Missense_Mutation_p.R455H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R432H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R405H|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Missense_Mutation_p.R482H NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 496 Rhodanese. cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 CGTGGGCCCCGCATGTGAGTC 0.612000 3 98 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119263714 119263714 + Splice_Site SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:119263714C>T ENST00000264246.3 - 3 463 c.100_splice c.e3-1 p.G34_splice CD80_ENST00000383668.3_Splice_Site_p.G34_splice|CD80_ENST00000383669.3_Splice_Site_p.G34_splice|CD80_ENST00000478182.1_Splice_Site_p.G34_splice NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 34 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) GTGGATAACACCTATGGAGAG 0.438000 11 9 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382018 41382018 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41382018G>A ENST00000377801.3 - 2 796 c.722C>T c.(721-723)tCg>tTg p.S241L PLCXD3_ENST00000328457.3_Missense_Mutation_p.S241L Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 241 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.S241L(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TATAAAAAACGATCCCTTCTT 0.507000 28 27 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501671 140501671 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140501671C>T ENST00000194152.1 + 1 91 c.91C>T c.(91-93)Cgt>Tgt p.R31C NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 31 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGCCTATTCGTTATTCTGT 0.527000 33 1 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13692188 13692188 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:13692188C>T ENST00000265104.4 - 79 13884 c.13780G>A c.(13780-13782)Gac>Aac p.D4594N NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4594 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TAGTTCAAGTCCGTTCGAACT 0.463000 Kartagener syndrome 27 35 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561085 44561085 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:44561085G>A ENST00000332567.4 - 1 903 c.551C>T c.(550-552)cCt>cTt p.P184L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 184 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGCGGGCTCAGGGCCCTCGGG 0.701000 17 34 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720152 160720152 + Silent SNP C C T rs144271994 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:160720152C>T ENST00000368043.3 + 4 745 c.708C>T c.(706-708)ctC>ctT p.L236L SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L129L|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L236L NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 236 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTGCCCCTCCTGCTCAGTC 0.502000 87 98 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23713998 23713998 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:23713998C>T ENST00000256797.4 - 9 1192 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K ERN2_ENST00000457008.2_Missense_Mutation_p.E294K NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 294 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AAGCCAGTTTCATCCTTCCCC 0.478000 39 42 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451437 55451437 + Silent SNP G G A rs140816006 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:55451437G>A ENST00000446217.1 - 6 1236 c.834C>T c.(832-834)ttC>ttT p.F278F NLRP7_ENST00000590030.1_Silent_p.F250F|NLRP7_ENST00000448121.2_Silent_p.F250F|NLRP7_ENST00000340844.2_Silent_p.F250F|NLRP7_ENST00000328092.5_Silent_p.F250F|NLRP7_ENST00000592784.1_Silent_p.F250F|NLRP7_ENST00000588756.1_Silent_p.F250F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 250 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CATCGACCACGAACAGGATTC 0.577000 65 99 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126739070 126739070 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:126739070C>T ENST00000251772.4 + 20 3921 c.3852C>T c.(3850-3852)atC>atT p.I1284I PLXNA1_ENST00000393409.2_Silent_p.I1307I Q9UIW2 PLXA1_HUMAN plexin A1 1307 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) AGACAGACATCCACGAGCTGA 0.637000 42 50 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919933 48919933 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:48919933C>T ENST00000310194.1 + 1 519 c.519C>T c.(517-519)atC>atT p.I173I OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AAGCCAAAATCATTCACCACT 0.507000 53 58 0 0 1 0 0 AXL 558 broad.mit.edu 37 19 41743950 41743950 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:41743950G>A ENST00000301178.4 + 7 1075 c.885G>A c.(883-885)cgG>cgA p.R295R AXL_ENST00000359092.3_Silent_p.R295R|AXL_ENST00000593513.1_Silent_p.R27R NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713.2 P30530 UFO_HUMAN AXL receptor tyrosine kinase 295 Fibronectin type-III 1. R -> W (in a lung neuroendocrine carcinoma sample; somatic mutation). integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 ATCAGCTTCGGCTAGGCAGCC 0.647000 136 111 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150715110 150715110 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:150715110G>A ENST00000605938.1 - 8 1975 c.1900C>T c.(1900-1902)Ccg>Tcg p.P634S ATG9B_ENST00000444312.1_Missense_Mutation_p.P120S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.P634S NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 634 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGAGGAGCGGGGACAGGAGC 0.617000 OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 0 0 1 0 0 GADD45B 4616 broad.mit.edu 37 19 2477146 2477146 + Missense_Mutation SNP T T A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:2477146T>A ENST00000215631.4 + 3 498 c.266T>A c.(265-267)aTc>aAc p.I89N GADD45B_ENST00000587345.1_Missense_Mutation_p.I89N NM_015675.3 NP_056490.2 O75293 GA45B_HUMAN growth arrest and DNA-damage-inducible, beta 89 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress cervix(2)|lung(1)|ovary(1) 4 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) GACATCAACATCGTGCGGGTG 0.627000 OREG0025141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 57 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111668626 111668626 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:111668626C>T ENST00000374647.5 - 14 1907 c.1600G>A c.(1600-1602)Gct>Act p.A534T IKBKAP_ENST00000537196.1_Missense_Mutation_p.A185T NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 534 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCAGAAGAAGCTGCAGTCAAA 0.468000 56 67 0 0 1 0 0 CAMK1D 57118 broad.mit.edu 37 10 12870827 12870827 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:12870827G>A ENST00000378847.3 + 11 1436 c.1099G>A c.(1099-1101)Gga>Aga p.G367R NM_153498.2 NP_705718.1 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 367 calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CTCAGGAGTTGGAGCCGAGCG 0.622000 38 13 0 0 1 0 0 MON1B 22879 broad.mit.edu 37 16 77225524 77225524 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:77225524G>A ENST00000248248.3 + 2 492 c.142G>A c.(142-144)Gaa>Aaa p.E48K MON1B_ENST00000320859.6_Missense_Mutation_p.E48K|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000439557.2_Missense_Mutation_p.E48K NM_014940.2 NP_055755.1 Q7L1V2 MON1B_HUMAN MON1 secretory trafficking family member B 48 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 GGGCCTGGAGGAAACAGGTAT 0.582000 8 9 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39934218 39934218 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:39934218G>A ENST00000281961.2 + 3 600 c.544G>A c.(544-546)Ggc>Agc p.G182S TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A TGGCTTCCTCGGCATGGCCGT 0.483000 35 28 0 0 1 0 0 TP53I13 90313 broad.mit.edu 37 17 27896362 27896362 + Silent SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:27896362A>G ENST00000301057.7 + 3 283 c.168A>G c.(166-168)cgA>cgG p.R56R RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 56 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) CCTACACACGAGTGAGCCCAG 0.612000 2 12 0 0 1 0 0 C14orf37 145407 broad.mit.edu 37 14 58605023 58605023 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:58605023C>T ENST00000267485.7 - 2 1248 c.1054G>A c.(1054-1056)Ggt>Agt p.G352S C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 352 integral to membrane binding p.E351_G352>DC(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 CCTTCCATACCCTCATGGCTT 0.557000 65 107 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72549780 72549780 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:72549780G>A ENST00000569795.1 - 13 1595 c.906_splice c.e13-1 p.P303_splice PARP6_ENST00000287196.9_Splice_Site_p.P303_splice|PARP6_ENST00000260376.7_Splice_Site_p.P303_splice|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 303 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 ACAGACAGCTGGCTGAAAGGA 0.517000 31 67 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108474710 108474710 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108474710G>A ENST00000295755.6 - 3 449 c.251C>T c.(250-252)tCg>tTg p.S84L RETNLB_ENST00000482939.1_Intron NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 84 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AACATCCCACGAACCACAGCC 0.577000 52 66 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688965 55688965 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55688965C>T ENST00000358433.2 - 1 51 c.52G>A c.(52-54)Gac>Aac p.D18N NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AACTGTGGGTCATCTGTCAAT 0.378000 25 26 0 0 1 0 0 MON1B 22879 broad.mit.edu 37 16 77225523 77225523 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:77225523G>A ENST00000248248.3 + 2 491 c.141G>A c.(139-141)gaG>gaA p.E47E MON1B_ENST00000320859.6_Silent_p.E47E|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000439557.2_Silent_p.E47E NM_014940.2 NP_055755.1 Q7L1V2 MON1B_HUMAN MON1 secretory trafficking family member B 47 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 AGGGCCTGGAGGAAACAGGTA 0.587000 8 9 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62996983 62996983 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:62996983G>A ENST00000306494.6 - 1 141 c.142C>T c.(142-144)Cgc>Tgc p.R48C SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 48 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACCCAGCAGCGATGATCAAGT 0.468000 18 64 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060553 128060553 + Missense_Mutation SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:128060553T>G ENST00000254730.6 + 5 1318 c.1264T>G c.(1264-1266)Tgc>Ggc p.C422G EEFSEC_ENST00000483457.1_Missense_Mutation_p.C367G|EEFSEC_ENST00000483569.1_3'UTR NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 422 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GCCCGTCACCTGCCCTCGGCT 0.622000 33 62 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118362611 118362611 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118362611C>T ENST00000534358.1 + 15 4995 c.4972C>T c.(4972-4974)Cgg>Tgg p.R1658W KMT2A_ENST00000354520.4_Missense_Mutation_p.R1617W|KMT2A_ENST00000389506.5_Missense_Mutation_p.R1655W NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTTGAATTCTCGGACTACCAG 0.468000 14 13 0 0 1 0 0 TBCCD1 55171 broad.mit.edu 37 3 186272727 186272727 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:186272727G>A ENST00000424280.1 - 5 1485 c.1006C>T c.(1006-1008)Cgt>Tgt p.R336C TBCCD1_ENST00000338733.5_Missense_Mutation_p.R336C|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R240C NM_001134415.1 NP_001127887.1 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 336 C-CAP/cofactor C-like. cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1) 17 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) TCGTTGCAACGATGAATCTTT 0.468000 43 56 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495526 161495526 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:161495526G>A ENST00000309758.4 + 1 1491 c.1078G>A c.(1078-1080)Gag>Aag p.E360K NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 360 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAACGGCAAGGAGCTGAACAA 0.577000 16 15 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134379613 134379613 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:134379613G>A ENST00000423007.1 + 2 450 c.8G>A c.(7-9)gGa>gAa p.G3E POMT1_ENST00000372228.3_Missense_Mutation_p.G3E|POMT1_ENST00000354713.4_Missense_Mutation_p.G3E|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.G3E|POMT1_ENST00000419118.2_Intron NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 3 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AAGATGTGGGGATTTTTGAAG 0.582000 OREG0019563 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 3 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139368510 139368510 + Silent SNP G G C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:139368510G>C ENST00000313050.7 - 1 3631 c.3558C>G c.(3556-3558)ctC>ctG p.L1186L SEC16A_ENST00000290037.6_Silent_p.L1008L|SEC16A_ENST00000431893.2_Silent_p.L1008L|SEC16A_ENST00000371706.3_Silent_p.L1008L NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1008 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CCTGGTAATAGAGGGAGGCTG 0.522000 30 2 0 0 1 0 0 PRG3 10394 broad.mit.edu 37 11 57148170 57148170 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:57148170G>A ENST00000287143.2 - 2 121 c.12C>T c.(10-12)ctC>ctT p.L4L NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 4 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 GCAGGAGCAAGAGGCATTGCA 0.493000 8 12 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085504 9085504 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9085504C>T ENST00000397910.4 - 1 6514 c.6311G>A c.(6310-6312)aGa>aAa p.R2104K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2104 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 TTCTGGATTTCTTTGCTTAGC 0.502000 85 94 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44426927 44426927 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:44426927C>T ENST00000372343.3 + 14 2999 c.2337C>T c.(2335-2337)ttC>ttT p.F779F NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 779 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TCACTCTCTTCCAGCAAGGTA 0.582000 185 182 0 0 1 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12832255 12832255 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:12832255G>A ENST00000379672.5 + 7 774 c.474G>A c.(472-474)caG>caA p.Q158Q ARHGAP44_ENST00000262444.9_Silent_p.Q158Q|ARHGAP44_ENST00000340825.3_Silent_p.Q158Q NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 158 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 GGTGGCAGCAGACTTCCAAGT 0.512000 9 0 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126707544 126707544 + Silent SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:126707544T>G ENST00000251772.4 + 1 108 c.39T>G c.(37-39)ggT>ggG p.G13G PLXNA1_ENST00000393409.2_Silent_p.G36G Q9UIW2 PLXA1_HUMAN plexin A1 36 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.G13G(4) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CAGGCGGGGGTTCACAGCCCC 0.682000 5 40 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677132 100677132 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:100677132C>T ENST00000306151.4 + 3 2499 c.2435C>T c.(2434-2436)cCt>cTt p.P812L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 812 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) ACAAGTATACCTGTCAGCATC 0.478000 199 286 0 0 1 0 0 CD80 941 broad.mit.edu 37 3 119263715 119263715 + Splice_Site SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:119263715C>T ENST00000264246.3 - 3 463 c.e3-1 CD80_ENST00000383668.3_Splice_Site|CD80_ENST00000383669.3_Splice_Site|CD80_ENST00000478182.1_Splice_Site NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) TGGATAACACCTATGGAGAGG 0.443000 11 9 0 0 1 0 0 KLHL30 377007 broad.mit.edu 37 2 239059547 239059547 + Missense_Mutation SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:239059547A>T ENST00000409223.1 + 8 1685 c.1578A>T c.(1576-1578)gaA>gaT p.E526D KLHL30_ENST00000305959.4_Missense_Mutation_p.E508D Q0D2K2 KLH30_HUMAN kelch-like family member 30 526 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) AGGGCATGGAAGGTGACTACC 0.677000 12 15 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48677985 48677985 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:48677985C>T ENST00000544264.1 - 35 9328 c.9048G>A c.(9046-9048)ctG>ctA p.L3016L CELSR3_ENST00000164024.4_Silent_p.L3011L Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3011 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCGGTTCTTCAGGATGCCTG 0.627000 7 8 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391579 5391579 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:5391579C>T ENST00000399537.4 - 17 5689 c.5341G>A c.(5341-5343)Ggc>Agc p.G1781S TNRC18_ENST00000430969.1_Missense_Mutation_p.G1781S O15417 TNC18_HUMAN trinucleotide repeat containing 18 1781 DNA binding p.R1780_G1781>SC(2)|p.G1781C(2)|p.G836C(1)|p.R835_G836>SC(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGCCAGGCCCCTCTTGGTC 0.647000 14 16 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354347 17354347 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:17354347C>T ENST00000511821.1 + 0 206 FTH1P10_ENST00000401830.3_RNA TGTTCCCTCTCCTCATGAGAT 0.478000 56 73 0 0 1 0 0 C5orf38 153571 broad.mit.edu 37 5 2752552 2752552 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:2752552G>A ENST00000515640.1 + 1 193 c.174G>A c.(172-174)tgG>tgA p.W58* C5orf38_ENST00000397835.4_Nonsense_Mutation_p.W58*|C5orf38_ENST00000457752.2_Nonsense_Mutation_p.W58*|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000334000.3_Nonsense_Mutation_p.W58*|C5orf38_ENST00000505778.1_Nonsense_Mutation_p.W58* Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 58 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) GGGCGCCTTGGTTGCGAATTG 0.672000 6 11 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55019312 55019312 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:55019312G>A ENST00000301202.2 + 3 399 c.277G>A c.(277-279)Gaa>Aaa p.E93K LAIR2_ENST00000351841.2_Missense_Mutation_p.E93K NM_002288.4 NP_002279.2 Q6ISS4 LAIR2_HUMAN leukocyte-associated immunoglobulin-like receptor 2 93 Ig-like C2-type. extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CTCAGTAAGTGAAGGAAATGC 0.493000 57 64 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875287 247875287 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:247875287G>A ENST00000302084.2 - 1 818 c.771C>T c.(769-771)ttC>ttT p.F257F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GGACGTGAAGGAAAACTGTGG 0.527000 43 52 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54760057 54760057 + Silent SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:54760057T>G ENST00000450632.1 - 4 554 c.477A>C c.(475-477)tcA>tcC p.S159S LILRB5_ENST00000449561.2_Silent_p.S168S|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.S168S O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 168 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGAGCTTCTGTGAGTACAGGG 0.542000 22 26 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653314 55653314 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:55653314G>A ENST00000449290.2 + 2 502 c.411_splice c.e2+1 p.R137_splice NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 137 intracellular zinc ion binding GAGGAACGCCGGGTAAGTGAT 0.488000 12 13 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58831412 58831412 + Missense_Mutation SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:58831412A>T ENST00000355431.3 + 20 2978 c.2605A>T c.(2605-2607)Ata>Tta p.I869L ARID4A_ENST00000431317.2_Missense_Mutation_p.I869L|ARID4A_ENST00000348476.3_Missense_Mutation_p.I869L|ARID4A_ENST00000395168.3_Missense_Mutation_p.I869L NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 869 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity p.I869V(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGAGAAAAAAATAAGAATTGA 0.323000 20 19 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77611842 77611842 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:77611842C>T ENST00000461745.1 + 10 2378 c.1478C>T c.(1477-1479)tCa>tTa p.S493L ROBO2_ENST00000332191.8_Missense_Mutation_p.S493L|ROBO2_ENST00000487694.3_Missense_Mutation_p.S509L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 493 Ig-like C2-type 5. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GCTACAAGTTCAAGTGGAGAG 0.413000 13 26 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36269237 36269237 + Missense_Mutation SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:36269237T>G ENST00000007510.4 + 4 389 c.245T>G c.(244-246)gTg>gGg p.V82G ARHGAP33_ENST00000314737.5_Missense_Mutation_p.V82G|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_5'UTR O14559 RHG33_HUMAN Rho GTPase activating protein 33 82 PX; atypical. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AATGAGCTGGTGTTCGGGGTG 0.607000 51 56 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5391580 5391580 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:5391580C>T ENST00000399537.4 - 17 5688 c.5340G>A c.(5338-5340)agG>agA p.R1780R TNRC18_ENST00000430969.1_Silent_p.R1780R O15417 TNC18_HUMAN trinucleotide repeat containing 18 1780 DNA binding p.R1780_G1781>SC(2)|p.R1780S(2)|p.R835S(1)|p.R835_G836>SC(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCGCCAGGCCCCTCTTGGTCA 0.647000 14 16 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656173 167656173 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:167656173C>T ENST00000357154.3 - 12 1347 c.1210G>A c.(1210-1212)Gat>Aat p.D404N SPOCK3_ENST00000357545.4_Missense_Mutation_p.D401N|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D306N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D306N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D404N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D353N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D404N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D401N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D401N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D284N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D272N|SPOCK3_ENST00000502330.1_Missense_Mutation_p.D404N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D308N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D361N NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 404 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity 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) tcgtcttcatcatcctcatca 0.353000 7 19 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566486 55566486 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:55566486C>T ENST00000373965.2 - 36 5302 c.4908G>A c.(4906-4908)ctG>ctA p.L1636L PCDH15_ENST00000414778.1_Silent_p.L1633L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CTGTGCTTTTCAGCCTGTTCC 0.443000 HNSCC(58;0.16) 94 74 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11031727 11031727 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:11031727G>A ENST00000327064.4 + 14 1729 c.1537_splice c.e14-1 p.G513_splice CARM1_ENST00000344150.4_Splice_Site_p.G513_splice NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 513 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGGACACAGGGATGCCGACCG 0.667000 20 34 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794549 15794549 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:15794549C>T ENST00000550308.1 + 7 1274 c.894C>T c.(892-894)ttC>ttT p.F298F CYP4F12_ENST00000324632.9_Silent_p.F298F NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTTGGATTTCATTGATGTGC 0.438000 71 82 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78959017 78959017 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:78959017G>A ENST00000370756.3 + 2 826 c.589G>A c.(589-591)Gaa>Aaa p.E197K PTGFR_ENST00000370758.1_Missense_Mutation_p.E197K|PTGFR_ENST00000370757.3_Missense_Mutation_p.E197K NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 197 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CAAAGACTGGGAAGATAGATT 0.403000 46 27 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464422 2464422 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:2464422G>A ENST00000278772.4 - 6 1672 c.1185C>T c.(1183-1185)acC>acT p.T395T RP4-734P14.4_ENST00000461548.1_Intron NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GTTTTCTGAGGGTTGACTTAT 0.498000 32 40 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19209609 19209609 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:19209609G>A ENST00000263200.10 - 16 2498 c.2426C>T c.(2425-2427)cCt>cTt p.P809L CLTCL1_ENST00000353891.5_Missense_Mutation_p.P809L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.P809L NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 809 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GGTCCGGCTAGGGTTGACCTA 0.473000 T ? ALCL 92 115 0 0 1 0 0 CHI3L2 1117 broad.mit.edu 37 1 111778306 111778306 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:111778306G>A ENST00000445067.2 + 8 1297 c.526G>A c.(526-528)Gaa>Aaa p.E176K CHI3L2_ENST00000524472.1_Missense_Mutation_p.E97K|CHI3L2_ENST00000369744.2_Missense_Mutation_p.E166K|CHI3L2_ENST00000466741.1_Missense_Mutation_p.E97K|CHI3L2_ENST00000369748.4_Missense_Mutation_p.E176K Q15782 CH3L2_HUMAN chitinase 3-like 2 176 chitin catabolic process extracellular space cation binding|chitinase activity p.E176K(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) ATCCACCAAGGAAAGGCTTCT 0.448000 27 49 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49031358 49031358 + Nonsense_Mutation SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:49031358G>T ENST00000380950.2 - 27 4408 c.4221C>A c.(4219-4221)tgC>tgA p.C1407* CEP152_ENST00000399334.3_Nonsense_Mutation_p.C1351* NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1351 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GAGCTTGTTCGCACAGAGTTC 0.388000 39 51 1.30475e-32 1.32793e-32 1 1 0 BMP5 653 broad.mit.edu 37 6 55739504 55739504 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:55739504C>T ENST00000370830.3 - 1 858 c.160G>A c.(160-162)Gaa>Aaa p.E54K BMP5_ENST00000446683.2_Missense_Mutation_p.E54K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 54 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.E54K(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GAGAGAATTTCCCTTTGTATT 0.438000 39 50 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625237 142625237 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:142625237G>A ENST00000265310.1 - 7 1203 c.855C>T c.(853-855)tcC>tcT p.S285S TRPV5_ENST00000442623.1_Silent_p.S285S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 285 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCTCTCCCCAGGAGTCGATCT 0.542000 36 53 0 0 1 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726745 25726745 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:25726745C>T ENST00000297012.3 - 1 45 c.11G>A c.(10-12)cGa>cAa p.R4Q NM_170745.3 NP_734466.1 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 4 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 CTGCTTCCCTCGTCCAGACAT 0.522000 65 73 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733690 35733690 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:35733690C>T ENST00000400445.3 + 22 3916 c.3382C>T c.(3382-3384)Cca>Tca p.P1128S NBEA_ENST00000379939.2_Missense_Mutation_p.P1128S|NBEA_ENST00000310336.4_Missense_Mutation_p.P1128S|NBEA_ENST00000540320.1_Missense_Mutation_p.P1128S NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 1128 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GGATAATGGTCCATTGATAAC 0.343000 9 11 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117630061 117630061 + Missense_Mutation SNP T T A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:117630061T>A ENST00000368508.3 - 41 6663 c.6465A>T c.(6463-6465)ttA>ttT p.L2155F ROS1_ENST00000368507.3_Missense_Mutation_p.L2149F NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 2155 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GACCAAGAGTTAAAATCTCCC 0.393000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 23 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411173 43411173 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:43411173G>A ENST00000187910.2 - 5 1206 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S PSG6_ENST00000402603.4_Missense_Mutation_p.P288S|PSG6_ENST00000292125.2_Missense_Mutation_p.P381S NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GTAATTTGGGGGATAAAGAGC 0.453000 143 369 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15890693 15890693 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:15890693C>T ENST00000587443.2 - 0 104 NR_033864.1 CTGCCCGAGGCCCAGCCAGGA 0.667000 16 17 0 0 1 0 0 PSMB1 5689 broad.mit.edu 37 6 170862327 170862327 + Silent SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:170862327A>G ENST00000262193.6 - 1 102 c.4T>C c.(4-6)Ttg>Ctg p.L2L NM_002793.3 NP_002784.1 P20618 PSB1_HUMAN proteasome (prosome, macropain) subunit, beta type, 1 2 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cell junction|cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643) Bortezomib(DB00188) GTAGAGGACAACATCGCACGG 0.602000 9 13 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999120 29999120 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:29999120C>T ENST00000308893.4 + 16 4570 c.3527C>T c.(3526-3528)gCc>gTc p.A1176V TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.A1063V|TAOK2_ENST00000416441.2_Missense_Mutation_p.A1003V NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1176 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCCCCGTGGGCCATCCACACA 0.677000 28 27 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71256050 71256050 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:71256050C>T ENST00000434990.1 - 0 61 CCCAAGGTGTCCAAGTCACAC 0.473000 4 2 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 45 40 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135015287 135015287 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:135015287C>T ENST00000304613.3 + 17 3293 c.3272C>T c.(3271-3273)cCc>cTc p.P1091L KNDC1_ENST00000368572.2_Missense_Mutation_p.P1093L|KNDC1_ENST00000368571.2_Missense_Mutation_p.P1026L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1091 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCTGCAGCCCCGGCTGGTGC 0.721000 3 4 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13415253 13415253 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:13415253C>T ENST00000254508.5 - 12 1634 c.1552G>A c.(1552-1554)Gat>Aat p.D518N NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 518 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TTCTGCACATCATGTGCCTGG 0.582000 43 41 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284414 159284414 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:159284414G>A ENST00000332217.5 - 1 35 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CTTCAAAGAGGAACTCAGTCA 0.423000 77 88 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34090782 34090782 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:34090782C>T ENST00000397527.1 + 30 5305 c.4585C>T c.(4585-4587)Cta>Tta p.L1529L CEP250_ENST00000342580.4_Silent_p.L1473L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1529 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCATCAGCTTCTAGAACTTGA 0.522000 27 44 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36940223 36940223 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:36940223G>A ENST00000454319.1 - 5 1050 c.916C>T c.(916-918)Cat>Tat p.H306Y ZNF566_ENST00000424129.2_Missense_Mutation_p.H305Y|ZNF566_ENST00000434377.2_Missense_Mutation_p.H305Y|ZNF566_ENST00000493391.1_Missense_Mutation_p.H201Y|ZNF566_ENST00000392170.2_Missense_Mutation_p.H306Y NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TCCCCAGTATGAATTCTCTGA 0.408000 49 55 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128922363 128922363 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:128922363C>T ENST00000375990.3 + 26 3216 c.2813C>T c.(2812-2814)cCa>cTa p.P938L UGGT1_ENST00000259253.6_Missense_Mutation_p.P962L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 962 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 AAAGGAGATCCAAGAATCGAG 0.368000 22 32 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88652175 88652175 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:88652175C>T ENST00000340700.5 - 7 1772 c.1321G>A c.(1321-1323)Gac>Aac p.D441N KCNK10_ENST00000312350.5_Missense_Mutation_p.D446N|KCNK10_ENST00000319231.5_Missense_Mutation_p.D446N NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 441 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ATGATGTTGTCCTCGGACGCA 0.547000 58 65 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206921284 206921284 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:206921284G>A ENST00000403263.1 - 4 1006 c.602C>T c.(601-603)tCa>tTa p.S201L NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 201 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 CTGCTGCTGTGAAGGTGCAGG 0.527000 7 13 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36306984 36306984 + Missense_Mutation SNP T T C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:36306984T>C ENST00000373210.3 + 14 2188 c.1943T>C c.(1942-1944)gTt>gCt p.V648A NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 ACTAACATGGTTCGAGAGCTG 0.522000 3 91 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105367117 105367117 + Nonsense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:105367117C>T ENST00000297581.2 + 3 1091 c.1042C>T c.(1042-1044)Caa>Taa p.Q348* DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 348 osteoclast differentiation cell surface|integral to membrane|plasma membrane ACAAGGAACTCAAGATATTAT 0.368000 9 11 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2028377 2028377 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:2028377C>T ENST00000568546.1 + 21 2326 c.2198C>T c.(2197-2199)gCc>gTc p.A733V NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 733 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 GAGGCCCAGGCCGTGCTGGGT 0.672000 56 59 0 0 1 0 0 C1orf168 199920 broad.mit.edu 37 1 57216787 57216787 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:57216787G>A ENST00000343433.6 - 9 1397 c.1317C>T c.(1315-1317)gcC>gcT p.A439A C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 439 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TGTCAATCATGGCCTCTTGCT 0.483000 34 33 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43855019 43855019 + Missense_Mutation SNP G G A rs145463901 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:43855019G>A ENST00000319294.6 + 10 1379 c.1348G>A c.(1348-1350)Gat>Aat p.D450N UBASH3A_ENST00000398367.1_Missense_Mutation_p.D412N|UBASH3A_ENST00000291535.6_Missense_Mutation_p.D412N NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 450 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 CTTTGAAAACGATCCCCCATT 0.433000 52 49 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233834931 233834931 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:233834931C>T ENST00000264051.3 - 3 654 c.376G>A c.(376-378)Gaa>Aaa p.E126K NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 126 Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TACCTCATTTCCTGGGCTCCT 0.498000 29 40 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129914209 129914209 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:129914209G>A ENST00000368654.3 - 7 838 c.463C>T c.(463-465)Cct>Tct p.P155S MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 155 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGTACCTGAGGATTTCCTGAA 0.383000 30 45 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28914025 28914025 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:28914025G>A ENST00000257192.4 + 8 1077 c.865G>A c.(865-867)Gag>Aag p.E289K NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 289 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AAATTTGCTCGAGATTAGAGT 0.328000 24 52 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6459558 6459558 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:6459558G>A ENST00000301454.4 - 1 188 c.82C>T c.(82-84)Cgc>Tgc p.R28C SLC25A23_ENST00000334510.5_Missense_Mutation_p.R28C NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 28 EF-hand 1. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 ACGTCCACGCGGCCATCCTTG 0.756000 37 39 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735840 158735840 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:158735840G>A ENST00000335094.2 - 1 652 c.633C>T c.(631-633)ttC>ttT p.F211F NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F211F(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GGATCAGCAGGAAGGTGGCTA 0.493000 43 60 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156915320 156915320 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:156915320G>A ENST00000257527.4 - 21 2581 c.2503C>T c.(2503-2505)Cct>Tct p.P835S ADAM19_ENST00000517905.1_Missense_Mutation_p.P835S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P837S|ADAM19_ENST00000430702.2_Missense_Mutation_p.P568S NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 835 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CGGCTTGGAGGAGGCCTCCTG 0.587000 93 10 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42265197 42265197 + Missense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:42265197C>A ENST00000199764.6 + 3 683 c.465C>A c.(463-465)aaC>aaA p.N155K AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 155 Ig-like C2-type 1. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) ACAACTCCAACCCCGTGGAGG 0.557000 101 165 6.13486e-44 6.27571e-44 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173322660 173322660 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:173322660G>A ENST00000457714.1 + 3 701 c.272G>A c.(271-273)gGg>gAg p.G91E NLGN1_ENST00000545397.1_Missense_Mutation_p.G91E|NLGN1_ENST00000401917.3_Missense_Mutation_p.G91E|NLGN1_ENST00000361589.4_Missense_Mutation_p.G91E NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 91 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CCACCAACAGGGGAACGTCGT 0.448000 44 67 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679626 104679626 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:104679626C>T ENST00000369878.3 + 1 1513 c.1389C>T c.(1387-1389)gcC>gcT p.A463A CNNM2_ENST00000369875.3_Silent_p.A463A|CNNM2_ENST00000457502.2_Silent_p.A221A|CNNM2_ENST00000433628.2_Silent_p.A463A NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 463 CBS 1. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCGGCGAAGCCATCCTGGACT 0.577000 18 21 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330095 125330095 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:125330095C>T ENST00000304865.2 - 1 743 c.662G>A c.(661-663)cGa>cAa p.R221Q NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGTGAGGATTCGTATATAAGA 0.428000 9 22 0 0 1 0 0 GLP1R 2740 broad.mit.edu 37 6 39053786 39053786 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:39053786G>A ENST00000373256.4 + 13 1372 c.1329G>A c.(1327-1329)ctG>ctA p.L443L NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 443 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CCAGCAGCCTGAGCAGTGGAG 0.637000 70 73 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44561409 44561409 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:44561409G>A ENST00000289547.4 - 12 2910 c.2855C>T c.(2854-2856)tCc>tTc p.S952F NPC1L1_ENST00000381160.3_Missense_Mutation_p.S952F|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S906F NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 952 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ATCCACCCAGGAGGAGGCAGG 0.607000 28 34 0 0 1 0 0 USP20 10868 broad.mit.edu 37 9 132618591 132618591 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:132618591C>T ENST00000315480.4 + 4 245 c.87C>T c.(85-87)acC>acT p.T29T USP20_ENST00000372429.3_Silent_p.T29T|USP20_ENST00000358355.1_Silent_p.T29T Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 29 endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) CACAGGGAACCTGTCAGTCGT 0.592000 93 7 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 558970 558970 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:558970G>A ENST00000329451.3 - 2 106 c.44C>T c.(43-45)tCg>tTg p.S15L RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 15 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACCACTGACCGACTCTTGCTC 0.652000 21 0 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490101 128490101 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:128490101C>T ENST00000325888.8 + 31 5532 c.5271C>T c.(5269-5271)ccC>ccT p.P1757P FLNC_ENST00000346177.6_Intron NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1757 Hinge 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACGCTCCTccccggcccggcg 0.687000 2 2 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59852045 59852045 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:59852045G>A ENST00000361421.1 - 3 447 c.227C>T c.(226-228)cCt>cTt p.P76L NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 76 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TGGGAGGGAAGGAGGAGTAAT 0.458000 31 45 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140337 178140337 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:178140337G>A ENST00000335815.2 - 5 739 c.542C>T c.(541-543)cCc>cTc p.P181L NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 181 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) TTTTTCTCTGGGAAGTATCTG 0.358000 84 112 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598616 85598616 + Missense_Mutation SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:85598616A>G ENST00000315658.7 + 8 797 c.538A>G c.(538-540)Aag>Gag p.K180E ELMOD3_ENST00000409344.3_Missense_Mutation_p.K180E|ELMOD3_ENST00000409013.3_Missense_Mutation_p.K180E|ELMOD3_ENST00000393852.4_Missense_Mutation_p.K180E|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.K180E|ELMOD3_ENST00000428955.2_Missense_Mutation_p.K180E NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 180 ELMO. phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 GACCATCTATAAGAAGCTGAC 0.552000 37 45 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011768 34011768 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:34011768C>T ENST00000373381.4 - 57 9145 c.8969G>A c.(8968-8970)cGt>cAt p.R2990H NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2963 Sushi 22. integral to membrane|plasma membrane protein binding p.R2846H(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCCCCAAACGGATGCCATG 0.567000 19 27 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94564545 94564545 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:94564545G>A ENST00000370225.3 - 6 659 c.573C>T c.(571-573)ttC>ttT p.F191F ABCA4_ENST00000535735.1_Silent_p.F191F NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 191 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTCCATGAGCGAACTGCAGGG 0.587000 9 14 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372638 175372638 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:175372638G>A ENST00000367674.1 - 4 1322 c.614C>T c.(613-615)cCg>cTg p.P205L TNR_ENST00000263525.2_Missense_Mutation_p.P205L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 205 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCAACCCAGCGGGCAGTAGGG 0.597000 135 167 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175559 140175559 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140175559C>T ENST00000526136.1 + 1 1010 c.1010C>T c.(1009-1011)tCa>tTa p.S337L PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S337L|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S337L NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTAAAATTTCATTAAAACTT 0.413000 21 3 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57399065 57399065 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:57399065C>T ENST00000543257.1 - 11 1905 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K C8B_ENST00000371237.4_Missense_Mutation_p.E499K|C8B_ENST00000535057.1_Missense_Mutation_p.E437K NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 499 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.E499K(1) 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 GAACTAACTTCCTTCTGGAAC 0.527000 23 33 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234878989 234878989 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:234878989G>A ENST00000324695.4 + 17 2314 c.2274G>A c.(2272-2274)atG>atA p.M758I TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 758 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGCTGCTCATGGATTTCCATT 0.557000 199 267 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50750841 50750841 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:50750841G>A ENST00000413817.2 - 19 1637 c.1566C>T c.(1564-1566)atC>atT p.I522I NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B TCCAGGTCTCGATGTTCTGCA 0.622000 13 12 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26168438 26168438 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:26168438C>T ENST00000335473.7 + 7 2080 c.1830C>T c.(1828-1830)gtC>gtT p.V610V MYO18B_ENST00000536101.1_Silent_p.V610V|MYO18B_ENST00000407587.2_Silent_p.V610V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 610 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATCTGATTGTCCTCCAGCCCC 0.637000 29 32 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10351974 10351974 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:10351974G>A ENST00000255381.2 - 32 4602 c.4492C>T c.(4492-4494)Cat>Tat p.H1498Y CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1498 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.H1498D(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTTTCAAGATGATCCAGGGAT 0.428000 56 4 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97772304 97772304 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:97772304G>A ENST00000344386.3 + 4 300 c.136G>A c.(136-138)Gag>Aag p.E46K ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.E46K|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 46 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) AGATCAAACAGAGGTCTTGCA 0.313000 10 15 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 898519 898519 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:898519G>A ENST00000314167.4 - 5 541 c.431C>T c.(430-432)tCg>tTg p.S144L GAK_ENST00000511163.1_Missense_Mutation_p.S65L NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 144 Protein kinase. S -> L. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity p.S144L(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CGTGTCGCACGAAAGGGGGCC 0.552000 19 0 0 0 1 0 0 OR6C68 403284 broad.mit.edu 37 12 55886782 55886782 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:55886782C>T ENST00000379662.1 + 1 636 c.636C>T c.(634-636)atC>atT p.I212I RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.I207I|RP11-110A12.2_ENST00000554049.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 CCTTTATTATCACTCTTGTAT 0.348000 10 14 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653120 159653120 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:159653120C>T ENST00000297267.9 + 11 1776 c.1576C>T c.(1576-1578)Cgc>Tgc p.R526C FNDC1_ENST00000340366.6_Missense_Mutation_p.R463C NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 526 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACCCCAGCTTCGCGCCAAGAA 0.562000 20 11 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192701266 192701266 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:192701266C>T ENST00000304141.4 - 2 990 c.661G>A c.(661-663)Gaa>Aaa p.E221K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 221 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TCCACCTTTTCCTCGGCACTG 0.483000 63 72 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272156 164272156 + Missense_Mutation SNP A A G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:164272156A>G ENST00000515560.1 + 4 2253 c.731A>G c.(730-732)aAc>aGc p.N244S NPY5R_ENST00000338566.3_Missense_Mutation_p.N244S|NPY5R_ENST00000506953.1_Missense_Mutation_p.N244S Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 244 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) GGATTGTCCAACAAAGAAAAC 0.383000 20 55 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95541354 95541354 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:95541354G>A ENST00000297591.5 - 7 899 c.824C>T c.(823-825)cCt>cTt p.P275L KIAA1429_ENST00000421249.2_Missense_Mutation_p.P275L|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P275L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 275 Glu-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) ttcctcctcAGGAATACTGTC 0.438000 8 6 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57929324 57929324 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:57929324G>A ENST00000548249.1 - 4 474 c.207C>T c.(205-207)ttC>ttT p.F69F DCTN2_ENST00000543672.1_Silent_p.F74F|DCTN2_ENST00000551400.1_5'UTR|DCTN2_ENST00000434715.3_Silent_p.F74F|DCTN2_ENST00000537439.1_Silent_p.F46F NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 69 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 TACGATCTGAGAAATCTGCCA 0.448000 39 66 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662547 662547 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:662547G>A ENST00000266383.5 + 14 1471 c.1458G>A c.(1456-1458)ctG>ctA p.L486L NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 486 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGGAGGGCCTGCTGGCCCCCT 0.627000 41 48 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100847495 100847495 + Nonsense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:100847495C>T ENST00000358544.2 + 53 9871 c.9760C>T c.(9760-9762)Cga>Tga p.R3254* VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R3229*|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3254 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCCTAGTCCTCGAGTAATTAT 0.343000 14 26 0 0 1 0 0 DEF8 54849 broad.mit.edu 37 16 90032355 90032355 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:90032355C>T ENST00000563594.1 + 13 2337 c.1340C>T c.(1339-1341)cCc>cTc p.P447L DEF8_ENST00000567874.1_Missense_Mutation_p.P387L|DEF8_ENST00000268676.7_Missense_Mutation_p.P508L|DEF8_ENST00000570182.1_Missense_Mutation_p.P437L|DEF8_ENST00000569453.1_Missense_Mutation_p.P447L|DEF8_ENST00000563795.1_Missense_Mutation_p.P430L NM_001242818.1|NM_001242819.1 NP_001229747.1|NP_001229748.1 Q6ZN54 DEFI8_HUMAN differentially expressed in FDCP 8 homolog (mouse) 508 intracellular signal transduction zinc ion binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0274) GAGCCAGGTCCCGATGTGGAG 0.637000 14 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070067 9070067 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9070067G>A ENST00000397910.4 - 3 17582 c.17379C>T c.(17377-17379)atC>atT p.I5793I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5795 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 TCACAGTGTTGATCTCCTCAG 0.458000 37 30 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146205 31146205 + Missense_Mutation SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:31146205T>G ENST00000304166.4 + 16 1603 c.1314T>G c.(1312-1314)agT>agG p.S438R ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.S466R|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.S417R|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.S494R NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 438 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGGCCAGCAGTGGGGTGAATG 0.587000 29 39 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670529 134670529 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:134670529C>T ENST00000398015.3 + 3 810 c.440C>T c.(439-441)tCc>tTc p.S147F EPHB1_ENST00000488154.1_3'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 147 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGAGCTTCTCCCAGGTGGAC 0.493000 60 80 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169611778 169611778 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:169611778G>A ENST00000335742.7 + 7 1571 c.214G>A c.(214-216)Gaa>Aaa p.E72K PALLD_ENST00000261509.6_Missense_Mutation_p.E454K|PALLD_ENST00000333488.4_Missense_Mutation_p.E331K|PALLD_ENST00000512127.1_Missense_Mutation_p.E72K|PALLD_ENST00000505667.1_Missense_Mutation_p.E454K Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 454 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AGCCGTGGCGGAAGGCCAGGT 0.502000 Pancreatic Cancer, Familial Clustering of 67 38 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 3 103 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622600 180622600 + Nonsense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:180622600C>A ENST00000393315.1 - 7 1175 c.478G>T c.(478-480)Gag>Tag p.E160* TRIM7_ENST00000274773.7_Nonsense_Mutation_p.E368*|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000422067.2_Nonsense_Mutation_p.E160*|TRIM7_ENST00000393319.3_Nonsense_Mutation_p.E186*|TRIM7_ENST00000361809.3_Nonsense_Mutation_p.E160*|CTC-338M12.6_ENST00000512508.1_RNA NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 368 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) TGGGCCCGCTCGCCGAGGCGC 0.667000 3 98 1 1 1 1 0 IGHV3-7 28452 broad.mit.edu 37 14 106518644 106518644 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106518644G>A ENST00000390598.2 - 0 185 GAGTCTCAGGGACCCCCCAGG 0.597000 96 115 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3653743 3653743 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:3653743G>A ENST00000263087.4 - 16 2025 c.1927C>T c.(1927-1929)Cag>Tag p.Q643* NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 643 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) CCGAAGTACTGGAGTCCTGGG 0.627000 29 2 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190571836 190571836 + Missense_Mutation SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:190571836A>T ENST00000520309.1 + 9 2171 c.2083A>T c.(2083-2085)Aat>Tat p.N695Y ANKAR_ENST00000281412.6_Missense_Mutation_p.N459Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.N695Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.N695Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.N624Y NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 695 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) aataaaattaaatattCCTGA 0.289000 6 4 0 0 1 0 0 LMO3 55885 broad.mit.edu 37 12 16753611 16753611 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:16753611G>A ENST00000320122.6 - 2 706 c.184C>T c.(184-186)Ctt>Ttt p.L62F LMO3_ENST00000541846.1_Missense_Mutation_p.L62F|LMO3_ENST00000441439.2_Missense_Mutation_p.L62F|LMO3_ENST00000537304.1_Missense_Mutation_p.L62F|LMO3_ENST00000541295.1_Missense_Mutation_p.L80F|LMO3_ENST00000447609.1_Missense_Mutation_p.L62F|LMO3_ENST00000535535.1_Missense_Mutation_p.L62F|LMO3_ENST00000354662.1_Missense_Mutation_p.L62F|LMO3_ENST00000540848.1_Missense_Mutation_p.L62F|LMO3_ENST00000534946.1_Missense_Mutation_p.L62F|LMO3_ENST00000540445.1_Intron|LMO3_ENST00000261169.6_Missense_Mutation_p.L73F|LMO3_ENST00000537568.1_Intron NM_001243611.1 NP_001230540.1 Q8TAP4 LMO3_HUMAN LIM domain only 3 (rhombotin-like 2) 62 LIM zinc-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent zinc ion binding endometrium(2)|large_intestine(2)|skin(1) 5 Hepatocellular(102;0.244) CTGCGACAAAGGATAAGATTA 0.448000 24 34 0 0 1 0 0 CNPPD1 27013 broad.mit.edu 37 2 220037718 220037718 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:220037718G>A ENST00000409789.1 - 9 1250 c.823C>T c.(823-825)Cgt>Tgt p.R275C CNPPD1_ENST00000360507.5_Missense_Mutation_p.R275C Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 275 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 AGGAGGCAACGGGAGGTCAGT 0.617000 4 136 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185330413 185330413 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:185330413G>A ENST00000296257.5 + 9 1076 c.836G>A c.(835-837)aGg>aAg p.R279K SENP2_ENST00000545472.1_Missense_Mutation_p.R269K|SENP2_ENST00000427465.2_Missense_Mutation_p.R103K NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 279 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GTTGAAACAAGGGGACCTCTA 0.308000 15 13 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102181165 102181165 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:102181165G>A ENST00000306176.1 + 6 771 c.671G>A c.(670-672)gGa>gAa p.G224E ZPLD1_ENST00000491959.1_Missense_Mutation_p.G208E|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G208E NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 208 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CCCAGTATAGGATTACCTTTG 0.353000 27 46 0 0 1 0 0 TRBV20-1 28567 broad.mit.edu 37 7 142334807 142334807 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:142334807G>A ENST00000390394.3 + 0 307 GCAAGGCGTCGAGAAGGACAA 0.517000 OREG0018395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 53 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97875247 97875247 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:97875247G>A ENST00000447648.2 - 3 511 c.212C>T c.(211-213)gCc>gTc p.A71V TECPR1_ENST00000542604.1_Intron|TECPR1_ENST00000379795.3_Missense_Mutation_p.A71V Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 71 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ATTCTCATAGGCCTCCTCTCG 0.562000 7 10 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122618162 122618162 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:122618162C>T ENST00000319080.6 + 9 1492 c.1360C>T c.(1360-1362)Cct>Tct p.P454S MLXIP_ENST00000538698.1_Missense_Mutation_p.P61S|MLXIP_ENST00000377037.2_Missense_Mutation_p.P44S Q9HAP2 MLXIP_HUMAN MLX interacting protein 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) ACCATTAGTTCCTCCTCCTGC 0.632000 18 17 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539219 56539219 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:56539219G>A ENST00000390649.3 + 7 1620 c.1620G>A c.(1618-1620)tgG>tgA p.W540* NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 540 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AGGGAGTGTGGAATAGGAAGT 0.552000 16 16 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 72994493 72994493 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:72994493G>A ENST00000308744.6 + 2 589 c.491G>A c.(490-492)gGa>gAa p.G164E NPFFR2_ENST00000358749.3_Missense_Mutation_p.G62E|NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.G65E NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 164 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGCATGATGGGAAATACTGTG 0.363000 53 41 0 0 1 0 0 PRPF4B 8899 broad.mit.edu 37 6 4060651 4060651 + Missense_Mutation SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:4060651A>C ENST00000337659.6 + 15 2925 c.2825A>C c.(2824-2826)aAa>aCa p.K942T PRPF4B_ENST00000494674.1_3'UTR|PRPF4B_ENST00000538861.1_Missense_Mutation_p.K928T NM_003913.4 NP_003904.3 Q13523 PRP4B_HUMAN pre-mRNA processing factor 4B 942 Protein kinase. catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 22 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTTTAGGAGAAAGTTACTGTT 0.338000 18 22 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108822756 108822756 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:108822756C>T ENST00000232603.5 - 4 245 c.163G>A c.(163-165)Gaa>Aaa p.E55K MORC1_ENST00000483760.1_Missense_Mutation_p.E55K|MORC1-AS1_ENST00000480826.1_RNA NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 55 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TGCAGTTTTTCATTATCCACT 0.383000 54 61 0 0 1 0 0 FRMD4B 23150 broad.mit.edu 37 3 69237038 69237038 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:69237038C>T ENST00000542259.1 - 20 2091 c.1640G>A c.(1639-1641)cGa>cAa p.R547Q FRMD4B_ENST00000478263.1_Missense_Mutation_p.R253Q|FRMD4B_ENST00000398540.3_Missense_Mutation_p.R601Q Q9Y2L6 FRM4B_HUMAN FERM domain containing 4B 601 cytoplasm|cytoskeleton binding NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2) 19 Lung NSC(201;0.0138)|Prostate(884;0.11) BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182) TGAACTTGATCGCTGCCCAGG 0.383000 4 5 0 0 1 0 0 CD3G 917 broad.mit.edu 37 11 118220644 118220644 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118220644G>A ENST00000532917.1 + 3 334 c.266G>A c.(265-267)gGa>gAa p.G89E CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Missense_Mutation_p.G29E NM_000073.2 NP_000064.1 P09693 CD3G_HUMAN CD3g molecule, gamma (CD3-TCR complex) 89 Ig-like. establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity breast(2)|kidney(1)|large_intestine(2)|skin(1) 6 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.04e-05) CAGTGTAAAGGATCACAGAAC 0.388000 22 48 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73829377 73829377 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:73829377G>A ENST00000334126.7 - 9 1642 c.1416C>T c.(1414-1416)gtC>gtT p.V472V C2CD3_ENST00000313663.7_Silent_p.V472V Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 472 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TTTTAGAAGGGACGATATCAT 0.423000 21 42 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14105173 14105173 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:14105173G>A ENST00000235372.7 + 8 1739 c.883G>A c.(883-885)Gaa>Aaa p.E295K PRDM2_ENST00000311066.5_Missense_Mutation_p.E295K|PRDM2_ENST00000413440.1_Missense_Mutation_p.E94K|PRDM2_ENST00000343137.4_Missense_Mutation_p.E94K|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 295 Asp/Glu-rich (acidic).|Retinoblastoma protein binding. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) cgagggggaagaagaAGCCAG 0.438000 22 25 0 0 1 0 0 NFAT5 10725 broad.mit.edu 37 16 69727950 69727950 + Nonsense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:69727950C>T ENST00000349945.1 + 14 5492 c.3940C>T c.(3940-3942)Caa>Taa p.Q1314* NFAT5_ENST00000354436.2_Nonsense_Mutation_p.Q1390*|NFAT5_ENST00000393742.2_Nonsense_Mutation_p.Q1314*|NFAT5_ENST00000567239.1_Nonsense_Mutation_p.Q1407*|NFAT5_ENST00000566899.1_Nonsense_Mutation_p.Q1314*|NFAT5_ENST00000432919.1_Nonsense_Mutation_p.Q1408* NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1390 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CAGTATAAATCAACAAGATAT 0.443000 34 47 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43547627 43547627 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:43547627C>T ENST00000395891.1 + 23 4368 c.3763C>T c.(3763-3765)Cgc>Tgc p.R1255C HECW1_ENST00000453890.1_Missense_Mutation_p.R1221C NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 1255 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 GCTCATTATTCGCCGGGATCA 0.517000 27 39 0 0 1 0 0 TRAV22 28661 broad.mit.edu 37 14 22539424 22539424 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:22539424C>T ENST00000390450.3 + 0 417 TTGTACATTTCCTCTTCCCAG 0.527000 15 27 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75974676 75974676 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:75974676C>T ENST00000308508.5 - 8 5000 c.4908G>A c.(4906-4908)caG>caA p.Q1636Q NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1636 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CTGTGCTGTCCTGCTGGGCGT 0.672000 61 46 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128870752 128870752 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:128870752G>A ENST00000375990.3 + 6 947 c.544G>A c.(544-546)Gaa>Aaa p.E182K UGGT1_ENST00000259253.6_Missense_Mutation_p.E206K Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 206 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGGCTCTGAGGAATTTTCCAA 0.353000 28 44 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189611994 189611994 + Splice_Site SNP G G A rs113056519 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:189611994G>A ENST00000264731.3 + 14 1835 c.e14-1 TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000440651.2_Splice_Site NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTGTTGCACAGGATCTGGCAA 0.493000 HNSCC(45;0.13) 32 26 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23110990 23110990 + Missense_Mutation SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:23110990A>T ENST00000400191.3 + 3 250 c.232A>T c.(232-234)Atc>Ttc p.I78F EPHB2_ENST00000544305.1_Missense_Mutation_p.I78F|EPHB2_ENST00000374630.3_Missense_Mutation_p.I78F|EPHB2_ENST00000374627.1_Missense_Mutation_p.I72F|EPHB2_ENST00000374632.3_Missense_Mutation_p.I78F NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 78 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GACCAAGTTTATCCGGCGCCG 0.577000 15 26 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113169455 113169455 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:113169455C>T ENST00000401783.2 - 38 8761 c.8425G>A c.(8425-8427)Ggc>Agc p.G2809S SVEP1_ENST00000374469.1_Missense_Mutation_p.G2786S|SVEP1_ENST00000297826.5_Missense_Mutation_p.G735S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2809 Sushi 23. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CTCTCAGTGCCATTCAGCACA 0.488000 90 100 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122131379 122131379 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:122131379G>A ENST00000334010.7 - 10 2059 c.1638C>T c.(1636-1638)acC>acT p.T546T CADPS2_ENST00000412584.2_Silent_p.T546T|CADPS2_ENST00000449022.2_Silent_p.T546T|CADPS2_ENST00000313070.7_Silent_p.T546T NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 546 PH. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GGTGGGGATCGGTATAATCCA 0.368000 6 7 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75707705 75707705 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:75707705C>T ENST00000370855.5 - 9 626 c.513G>A c.(511-513)gcG>gcA p.A171A SLC44A5_ENST00000370859.3_Silent_p.A171A|SLC44A5_ENST00000535611.1_Silent_p.A41A NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 171 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGGAAAAATCGCTGTTGGAC 0.353000 18 54 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634459 156634459 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:156634459G>A ENST00000296518.7 + 7 1505 c.1296G>A c.(1294-1296)ctG>ctA p.L432L GUCY1A3_ENST00000511108.1_Silent_p.L432L|GUCY1A3_ENST00000506455.1_Silent_p.L432L|GUCY1A3_ENST00000393832.3_Silent_p.L174L|GUCY1A3_ENST00000513574.1_Silent_p.L432L|GUCY1A3_ENST00000511507.1_Silent_p.L432L|GUCY1A3_ENST00000455639.2_Silent_p.L432L Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 432 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TGGGGAAGCTGAAGGCTACCC 0.527000 19 15 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19580814 19580814 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:19580814C>T ENST00000438132.3 + 3 501 c.453C>T c.(451-453)tcC>tcT p.S151S C16orf62_ENST00000542263.1_Silent_p.S151S|C16orf62_ENST00000417362.2_Silent_p.S62S|C16orf62_ENST00000251143.5_Silent_p.S62S|C16orf62_ENST00000538853.1_Silent_p.S151S NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 62 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 CCTCCTCCTCCAGCTCCGTGG 0.567000 39 53 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769633 50769633 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:50769633G>A ENST00000216923.4 - 6 1447 c.1098C>T c.(1096-1098)tgC>tgT p.C366C ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371515.4_Silent_p.C364C|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.C312C NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 GGCGGTCGGTGCAGTGGATAC 0.577000 73 78 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189012721 189012721 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:189012721G>A ENST00000512729.1 - 7 1344 c.970C>T c.(970-972)Ctt>Ttt p.L324F TRIML2_ENST00000326754.3_Missense_Mutation_p.L349F NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 324 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TCGCAGTCAAGGAAAACGCCA 0.532000 41 105 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636330 73636330 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:73636330C>T ENST00000377687.4 + 2 1129 c.593C>T c.(592-594)aCc>aTc p.T198I KLF5_ENST00000539231.1_Missense_Mutation_p.T107I|KLF5_ENST00000477333.1_3'UTR NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 198 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TCACACCAGACCGCAGCTCCA 0.537000 50 41 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158272404 158272404 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:158272404C>T ENST00000264192.3 - 8 986 c.865G>A c.(865-867)Gag>Aag p.E289K CYTIP_ENST00000540637.1_Missense_Mutation_p.E183K NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 289 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 TCATCCCCCTCCTTGGGGATA 0.542000 37 48 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125513035 125513035 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:125513035G>A ENST00000373684.1 + 1 1017 c.1017G>A c.(1015-1017)aaG>aaA p.K339K OR1L6_ENST00000304720.2_Silent_p.K303K Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 339 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 GGGGTTTGAAGAAATTACAGG 0.403000 37 28 0 0 1 0 0 WFDC11 259239 broad.mit.edu 37 20 44278037 44278037 + Splice_Site SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:44278037C>T ENST00000356562.2 - 4 323 c.100_splice c.e4-1 p.R34_splice WFDC11_ENST00000324384.3_Splice_Site_p.R34_splice Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 34 extracellular region endometrium(1)|lung(4) 5 Myeloproliferative disorder(115;0.0122) ACAATTCCTTCCCTGAAATTG 0.388000 54 72 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091511 74091511 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr18:74091511G>A ENST00000443185.2 - 4 2876 c.2559C>T c.(2557-2559)ccC>ccT p.P853P ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCACTCCCAGGGGAGAAGAGC 0.627000 47 81 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10165989 10165989 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:10165989G>A ENST00000495140.1 + 0 1617 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GGGAACCCAGGAAGCACTTGG 0.607000 31 58 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125557523 125557523 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:125557523C>T ENST00000241305.3 - 6 1012 c.858G>A c.(856-858)atG>atA p.M286I CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 286 F5/8 type C. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TCTCCATTCTCATGCAGATGC 0.557000 30 22 0 0 1 0 0 RFT1 91869 broad.mit.edu 37 3 53155759 53155759 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:53155759G>A ENST00000296292.3 - 5 575 c.514C>T c.(514-516)Ctg>Ttg p.L172L RFT1_ENST00000394738.3_Silent_p.L133L NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 172 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGCAACCACAGCACGAGAAAA 0.408000 12 20 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091612 143091612 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:143091612G>A ENST00000367603.2 - 5 5006 c.4264C>T c.(4264-4266)Ccc>Tcc p.P1422S HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1422S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1422S NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AAACACAAGGGGATGGAGGAT 0.547000 27 42 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128870751 128870751 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:128870751G>A ENST00000375990.3 + 6 946 c.543G>A c.(541-543)gaG>gaA p.E181E UGGT1_ENST00000259253.6_Silent_p.E205E Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 205 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTGGCTCTGAGGAATTTTCCA 0.353000 30 45 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44770458 44770458 + Nonsense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:44770458C>T ENST00000334152.1 + 4 475 c.475C>T c.(475-477)Cag>Tag p.Q159* ZNF233_ENST00000592581.1_Silent_p.F41F|ZNF233_ENST00000391958.2_Silent_p.F41F|ZNF233_ENST00000589522.1_Silent_p.F41F|ZNF235_ENST00000589799.1_Intron A6NK53 ZN233_HUMAN zinc finger protein 233 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TGGAGAACTTCAGGAACCTGC 0.507000 72 97 0 0 1 0 0 RAPGEF3 10411 broad.mit.edu 37 12 48137388 48137388 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:48137388C>T ENST00000405493.2 - 18 1833 c.1624G>A c.(1624-1626)Gag>Aag p.E542K RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E584K|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.E584K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E542K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E542K|RAPGEF3_ENST00000548919.1_Intron NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 542 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GCCATCACCTCTCTCACGGAG 0.607000 42 64 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652489 1652489 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:1652489G>A ENST00000252804.4 - 17 3113 c.3063C>T c.(3061-3063)atC>atT p.I1021I NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1021 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCGCACCCACGATCTTCCTGG 0.617000 15 8 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71531935 71531935 + Splice_Site SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:71531935C>T ENST00000393330.2 - 8 889 c.e8+1 TSPAN8_ENST00000247829.3_Splice_Site|TSPAN8_ENST00000546561.1_Splice_Site|TSPAN8_ENST00000552128.1_Splice_Site P19075 TSN8_HUMAN tetraspanin 8 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TGTGCACACACCTTAGATTTG 0.358000 72 101 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90611620 90611620 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:90611620C>T ENST00000268154.4 + 2 1502 c.1251C>T c.(1249-1251)tcC>tcT p.S417S NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGGACTTCTCCACCCTGACCC 0.662000 35 33 0 0 1 0 0 ATRAID 51374 broad.mit.edu 37 2 27438360 27438360 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:27438360C>T ENST00000380171.3 + 4 654 c.477C>T c.(475-477)ccC>ccT p.P159P ATRAID_ENST00000405489.3_Silent_p.P46P|ATRAID_ENST00000606999.1_Silent_p.P104P NM_080592.3 NP_542159.3 all-trans retinoic acid-induced differentiation factor AAGCAAACCCCCTCAAAGGTG 0.468000 65 59 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295476 101295476 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:101295476G>A ENST00000538618.1 + 4 411 c.411G>A c.(409-411)cgG>cgA p.R137R ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 TCCATCAACGGCGAAGTGTGG 0.498000 HNSCC(74;0.22) 28 25 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301621 42301621 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:42301621C>T ENST00000357396.3 + 2 406 c.165C>T c.(163-165)gtC>gtT p.V55V CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.V55V|CEACAM3_ENST00000221999.4_Silent_p.V55V NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 55 Ig-like V-type. integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 TTCTACTTGTCCACAATCTGC 0.493000 89 96 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42603282 42603282 + Missense_Mutation SNP G G T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:42603282G>T ENST00000372901.1 + 14 1930 c.1672G>T c.(1672-1674)Gat>Tat p.D558Y UBR2_ENST00000372899.1_Missense_Mutation_p.D558Y|UBR2_ENST00000372883.3_Missense_Mutation_p.D62Y Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 558 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTGTGCTTCAGATGTGAGTTT 0.423000 62 60 4.79706e-38 4.89471e-38 1 1 0 MPC2 25874 broad.mit.edu 37 1 167887567 167887567 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:167887567G>A ENST00000367846.4 - 5 576 c.378C>T c.(376-378)caC>caT p.H126H MPC2_ENST00000271373.4_Silent_p.H126H NM_015415.3 NP_056230.1 mitochondrial pyruvate carrier 2 TCTTTTATTTGTGTGCTTTAG 0.308000 19 18 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457059 110457059 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:110457059G>A ENST00000378402.5 + 38 5065 c.4961G>A c.(4960-4962)cGa>cAa p.R1654Q NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1654 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) TTTGATAGGCGATTTGTACTT 0.433000 HNSCC(38;0.096) 112 125 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216348630 216348630 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:216348630G>A ENST00000366943.2 - 21 4977 c.4591C>T c.(4591-4593)Ccc>Tcc p.P1531S USH2A_ENST00000307340.3_Missense_Mutation_p.P1531S|USH2A_ENST00000366942.3_Missense_Mutation_p.P1531S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1531 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGGAGCTGGGAAATTTACAA 0.403000 HNSCC(13;0.011) 14 18 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885791 88885791 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:88885791G>A ENST00000319675.3 - 1 505 c.409C>T c.(409-411)Cac>Tac p.H137Y NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 137 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GAATCCAAGTGATTCAGTGAG 0.567000 62 58 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914420 10914420 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:10914420G>A ENST00000298232.7 - 20 1612 c.1245C>T c.(1243-1245)atC>atT p.I415I TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I433I|TPTE_ENST00000342420.5_Silent_p.I395I NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 433 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 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) TTTCTATTTGGATTTTTAGAT 0.313000 5 30 0 0 1 0 0 CXCR4 7852 broad.mit.edu 37 2 136873442 136873442 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:136873442C>T ENST00000409817.1 - 1 371 c.68G>A c.(67-69)gGg>gAg p.G23E CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.G19E NM_001008540.1 NP_001008540.1 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 19 activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GTCATAGTCCCCTGAGCCCAT 0.423000 54 50 0 0 1 0 0 PHF6 84295 broad.mit.edu 37 X 133551267 133551267 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chrX:133551267C>T ENST00000332070.3 + 9 1105 c.903C>T c.(901-903)taC>taT p.Y301Y PHF6_ENST00000370803.3_Silent_p.Y301Y|PHF6_ENST00000416404.2_Silent_p.Y267Y|PHF6_ENST00000394292.1_Silent_p.Y302Y|PHF6_ENST00000370799.1_Silent_p.Y302Y NM_032458.2 NP_115834.1 Q8IWS0 PHF6_HUMAN PHD finger protein 6 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus zinc ion binding p.Y301fs*1(1)|p.Y301*(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1) 103 Acute lymphoblastic leukemia(192;0.000127) TTAAGACTTACCATTACCACT 0.358000 """F, N, Splice, Mis""" ETP ALL 32 0 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587872 179587872 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179587872C>T ENST00000589042.1 - 75 22086 c.21862G>A c.(21862-21864)Gaa>Aaa p.E7288K TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6971K|TTN_ENST00000342992.6_Missense_Mutation_p.E6044K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6971 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) TTCAGAATTTCCAGGATACAA 0.393000 6 11 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961464 51961464 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:51961464C>T ENST00000321424.3 - 1 244 c.178G>A c.(178-180)Gac>Aac p.D60N SIGLEC8_ENST00000340550.5_Missense_Mutation_p.D60N|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.D60N NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 60 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGAACTGGGTCAGAGTCAGTC 0.587000 54 68 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123751988 123751988 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:123751988G>A ENST00000223642.1 - 24 3041 c.3012C>T c.(3010-3012)ccC>ccT p.P1004P NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1004 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CACTCCCTTTGGGGAGGTGGG 0.438000 31 76 0 0 1 0 0 OR4N5 390437 broad.mit.edu 37 14 20612737 20612737 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:20612737G>A ENST00000333629.1 + 1 843 c.843G>A c.(841-843)ttG>ttA p.L281L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TCTTTCCTTTGATGAACCCTG 0.408000 52 50 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215844436 215844436 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:215844436C>T ENST00000366943.2 - 64 14397 c.14011G>A c.(14011-14013)Gaa>Aaa p.E4671K USH2A_ENST00000307340.3_Missense_Mutation_p.E4671K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4671 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTATAATTCGTAATACAAA 0.418000 HNSCC(13;0.011) 33 45 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127911958 127911958 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:127911958G>A ENST00000451402.1 - 8 1243 c.1023C>T c.(1021-1023)ttC>ttT p.F341F PPP6C_ENST00000373546.3_Silent_p.F157F|PPP6C_ENST00000373547.4_Silent_p.F304F|PPP6C_ENST00000415905.1_Silent_p.F282F NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 304 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GGCCTCAAAGGAAATATGGCG 0.418000 35 82 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 856086 856086 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:856086C>T ENST00000590230.1 + 6 867 c.726C>T c.(724-726)atC>atT p.I242I ELANE_ENST00000263621.1_Silent_p.I242I P08246 ELNE_HUMAN elastase, neutrophil expressed 242 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) TAAACTGGATCGACTCTATCA 0.652000 138 175 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100336192 100336192 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:100336192G>A ENST00000542585.1 + 0 870 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) 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) GGGTCATCAGGAAAGCCAGGC 0.557000 11 16 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135601998 135601998 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:135601998C>T ENST00000513104.1 - 5 1537 c.1255G>A c.(1255-1257)Gaa>Aaa p.E419K TRPC7_ENST00000355180.3_Missense_Mutation_p.E358K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E303K NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 419 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGAAGGTTTCGTTTGGCAGG 0.398000 49 3 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155506994 155506994 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:155506994G>A ENST00000302053.3 - 5 1665 c.1587C>T c.(1585-1587)ttC>ttT p.F529F FGA_ENST00000403106.3_Silent_p.F529F NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 529 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AGAAACCTGGGAATGTTTTTC 0.473000 29 12 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121219325 121219325 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:121219325C>T ENST00000297848.3 + 10 1453 c.1183C>T c.(1183-1185)Cca>Tca p.P395S COL14A1_ENST00000309791.4_Missense_Mutation_p.P395S|COL14A1_ENST00000247781.3_Missense_Mutation_p.P300S|COL14A1_ENST00000537875.1_Missense_Mutation_p.P395S|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 395 Fibronectin type-III 2. 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) GGGTGGAAAACCAGACGAGGT 0.373000 11 14 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58302906 58302906 + Missense_Mutation SNP T T A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:58302906T>A ENST00000249750.4 - 4 1201 c.434A>T c.(433-435)aAa>aTa p.K145I ALDH1A2_ENST00000559517.1_Missense_Mutation_p.K49I|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.K124I|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.K116I|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.K145I NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 145 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) TCGAAAGGTTTTGATGACGCC 0.423000 13 15 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103338452 103338452 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr7:103338452C>T ENST00000428762.1 - 10 1150 c.991G>A c.(991-993)Gaa>Aaa p.E331K RELN_ENST00000343529.5_Missense_Mutation_p.E331K|RELN_ENST00000424685.2_Missense_Mutation_p.E331K NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 331 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.E331K(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGAAGATTTTCCTGCTTCCAC 0.448000 64 69 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78449574 78449574 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:78449574C>T ENST00000278550.7 - 20 3260 c.2798G>A c.(2797-2799)gGa>gAa p.G933E NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CAGGGGGGTTCCATCTGATGT 0.473000 23 15 0 0 1 0 0 IGHV3-7 28452 broad.mit.edu 37 14 106518643 106518643 + RNA SNP G G A rs113025074 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:106518643G>A ENST00000390598.2 - 0 186 AGAGTCTCAGGGACCCCCCAG 0.597000 96 116 0 0 1 0 0 LBP 3929 broad.mit.edu 37 20 36992676 36992676 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:36992676G>A ENST00000217407.2 + 7 861 c.700G>A c.(700-702)Gaa>Aaa p.E234K NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 234 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) TAGCTTAGTGGAAGCCCCTCG 0.547000 35 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179392412 179392412 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179392412C>T ENST00000589042.1 - 362 107665 c.107441G>A c.(107440-107442)gGa>gAa p.G35814E TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26874E|TTN_ENST00000342175.6_Missense_Mutation_p.G26941E|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G34173E|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G33246E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26749E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34173 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) CGAGAAGCTTCCTTGCAAGCT 0.483000 10 17 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72549781 72549781 + Splice_Site SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:72549781G>A ENST00000569795.1 - 13 1594 c.906_splice c.e13-1 p.P303_splice PARP6_ENST00000287196.9_Splice_Site_p.P303_splice|PARP6_ENST00000260376.7_Splice_Site_p.P303_splice|PARP6_ENST00000413097.2_5'UTR Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 303 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 CAGACAGCTGGCTGAAAGGAT 0.512000 31 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085830 9085830 + Silent SNP A A T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:9085830A>T ENST00000397910.4 - 1 6188 c.5985T>A c.(5983-5985)gtT>gtA p.V1995V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1995 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 TCTGCACAGAAACTTTTTCTG 0.468000 30 37 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179615343 179615343 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179615343C>T ENST00000360870.5 - 46 12006 c.11784G>A c.(11782-11784)atG>atA p.M3928I TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9748 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) CAAAAAATCTCATGTTTTCTT 0.343000 4 9 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31609293 31609293 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:31609293C>T ENST00000379416.3 - 9 828 c.780G>A c.(778-780)ggG>ggA p.G260G XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 260 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCTCCGTGTTCCCCACGACCA 0.627000 34 44 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134384356 134384356 + Missense_Mutation SNP C C A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:134384356C>A ENST00000423007.1 + 6 928 c.486C>A c.(484-486)ttC>ttA p.F162L POMT1_ENST00000372228.3_Missense_Mutation_p.F162L|POMT1_ENST00000354713.4_Missense_Mutation_p.F132L|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Missense_Mutation_p.F108L|POMT1_ENST00000404875.2_Missense_Mutation_p.F45L|POMT1_ENST00000402686.3_Missense_Mutation_p.F162L|POMT1_ENST00000419118.2_Missense_Mutation_p.F10L NM_001136113.1 NP_001129585.1 Q9Y6A1 POMT1_HUMAN protein-O-mannosyltransferase 1 162 multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) TAATATTTTTCAATCTATTGG 0.393000 33 3 2.1956e-27 2.22895e-27 1 1 0 DPAGT1 1798 broad.mit.edu 37 11 118969160 118969160 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:118969160G>A ENST00000409993.2 - 7 2232 c.681C>T c.(679-681)ttC>ttT p.F227F DPAGT1_ENST00000432443.2_Silent_p.F120F|DPAGT1_ENST00000354202.4_Silent_p.F227F Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 227 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity p.F227F(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AGGGTATCATGAAGTAGAGGG 0.443000 30 58 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52732986 52732986 + Silent SNP T T C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:52732986T>C ENST00000360540.5 - 7 1405 c.999A>G c.(997-999)ttA>ttG p.L333L PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.L257L|PCMTD1_ENST00000522514.1_Silent_p.L333L NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 333 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) TTTCTCTCAGTAAATTTTGAG 0.363000 3 46 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100550533 100550533 + RNA SNP G G C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:100550533G>C ENST00000397112.4 - 0 2288 NR_036632.1 large_intestine(1)|lung(3) 4 TGCTCAGTGGGGTTGTCACAG 0.562000 5 8 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561263 9561263 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:9561263C>T ENST00000378429.3 - 5 1065 c.519G>A c.(517-519)atG>atA p.M173I PAK7_ENST00000353224.5_Missense_Mutation_p.M173I|PAK7_ENST00000378423.1_Missense_Mutation_p.M173I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 173 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCTTCATTTTCATTACGTGCC 0.463000 73 78 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140992371 140992371 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:140992371C>T ENST00000389484.3 - 90 14614 c.13643G>A c.(13642-13644)gGa>gAa p.G4548E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4548 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) agttagtggtcctttcaaatc 0.443000 TSP Lung(27;0.18) 9 21 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41052626 41052626 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:41052626C>T ENST00000399564.4 - 12 1621 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGCCATCCTTCCCGAGCTTCA 0.393000 26 32 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725546 41725546 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr21:41725546C>T ENST00000400454.1 - 5 1257 c.780G>A c.(778-780)aaG>aaA p.K260K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 260 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCATGTTGTCCTTCAGCCAGC 0.582000 25 23 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131104255 131104255 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:131104255G>A ENST00000357668.1 - 24 2563 c.2536C>T c.(2536-2538)Cct>Tct p.P846S ASAP1_ENST00000518721.1_Missense_Mutation_p.P846S Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 846 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GGCCCATGAGGTAGTGGGCTG 0.617000 72 105 0 0 1 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146868 52146868 + Missense_Mutation SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr19:52146868A>C ENST00000360844.6 - 6 1111 c.1070T>G c.(1069-1071)gTc>gGc p.V357G SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 357 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CAGGGTGAGGACGAGGGGCCA 0.582000 25 40 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48390024 48390024 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:48390024G>A ENST00000224600.4 - 1 967 c.854C>T c.(853-855)tCc>tTc p.S285F NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 285 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCCCCAGGGACCTGGACAC 0.701000 10 6 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43011351 43011351 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:43011351G>A ENST00000535468.1 - 17 3528 c.3442C>T c.(3442-3444)Ccc>Tcc p.P1148S CUL7_ENST00000265348.3_Missense_Mutation_p.P1064S NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 1064 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CAACCCAGGGGGCTAATGCCA 0.587000 10 9 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307514 140307514 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140307514C>T ENST00000253807.2 + 1 1037 c.1037C>T c.(1036-1038)tCg>tTg p.S346L PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S346L|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACTCTTTCGAACCCAGTA 0.517000 78 7 0 0 1 0 0 TRIM61 391712 broad.mit.edu 37 4 165891000 165891000 + Missense_Mutation SNP G G A rs142627348 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr4:165891000G>A ENST00000329314.5 - 3 767 c.155C>T c.(154-156)cCc>cTc p.P52L NM_001012414.2 NP_001012414.1 Q5EBN2 TRI61_HUMAN tripartite motif containing 61 52 intracellular zinc ion binding p.P52L(1) NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) AAAGGGGCAGGGGAAACTATC 0.453000 12 52 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227915811 227915811 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:227915811C>T ENST00000396625.3 - 33 3239 c.3032G>A c.(3031-3033)gGa>gAa p.G1011E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1011E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1011 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCTGTGAAATCCAGGTGGTCC 0.547000 45 77 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93754581 93754581 + Missense_Mutation SNP T T G TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:93754581T>G ENST00000315765.9 + 1 55 c.47T>G c.(46-48)cTg>cGg p.L16R NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 16 copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CTCACATTCCTGGGTCTGTCT 0.502000 22 46 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7572147 7572147 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:7572147G>A ENST00000379802.3 + 15 2317 c.1976G>A c.(1975-1977)aGa>aAa p.R659K DSP_ENST00000418664.2_Missense_Mutation_p.R659K NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 659 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAACCAACAGAGAAAATGAC 0.433000 41 45 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101652 168101652 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:168101652G>A ENST00000409195.1 + 9 3839 c.3750G>A c.(3748-3750)aaG>aaA p.K1250K XIRP2_ENST00000409273.1_Silent_p.K1028K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.K1250K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1075 actin cytoskeleton organization cell junction actin binding 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 CAATTGATAAGATAAAAGAAA 0.338000 29 28 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19486669 19486669 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr22:19486669C>T ENST00000407835.1 + 10 955 c.699C>T c.(697-699)atC>atT p.I233I CDC45_ENST00000404724.3_Silent_p.I187I|CDC45_ENST00000263201.1_Silent_p.I233I|CDC45_ENST00000437685.2_Silent_p.I265I O75419 CDC45_HUMAN cell division cycle 45 233 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AAGACAAGATCACTCAGTAAG 0.572000 55 74 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7241545 7241545 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7241545C>T ENST00000542285.1 - 6 952 c.803G>A c.(802-804)gGg>gAg p.G268E P00736 C1R_HUMAN complement component 1, r subcomponent 269 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCTTTGCTTCCCACAGAACTC 0.547000 5 7 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55568560 55568560 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:55568560C>T ENST00000395445.1 - 36 5644 c.5250G>A c.(5248-5250)caG>caA p.Q1750Q PCDH15_ENST00000395442.1_Silent_p.Q615Q|PCDH15_ENST00000395440.1_Silent_p.Q684Q|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Silent_p.Q946Q NM_001142769.1 NP_001136241.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GACCTCCAGACTGACTTTCGC 0.498000 HNSCC(58;0.16) 9 4 0 0 1 0 0 RYK 6259 broad.mit.edu 37 3 133901898 133901898 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:133901898G>A ENST00000427044.2 - 11 1163 c.553C>T c.(553-555)Cag>Tag p.Q185* RYK_ENST00000296084.4_Nonsense_Mutation_p.Q375* P34925 RYK_HUMAN receptor-like tyrosine kinase 371 WIF. corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 ATTGTCACCTGAATTTCAGAA 0.343000 8 7 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179621496 179621496 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr2:179621496C>T ENST00000589042.1 - 46 10931 c.10707G>A c.(10705-10707)ggG>ggA p.G3569G TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Silent_p.G3398G|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3253 Ig-like 21. 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) TTACATCTTTCCCAGAACTTT 0.393000 8 13 0 0 1 0 0 ANKRD19P 138649 broad.mit.edu 37 9 95646227 95646227 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:95646227C>T ENST00000473204.1 + 0 2143 CTCCCAGTGTCCAGTAGGGCA 0.567000 40 2 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33465234 33465234 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:33465234G>A ENST00000379471.2 - 20 2739 c.2652C>T c.(2650-2652)ttC>ttT p.F884F NOL6_ENST00000455041.2_Silent_p.F832F|NOL6_ENST00000464829.1_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 884 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGGGTGCAGGAAAAGGGCAG 0.617000 5 0 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103274276 103274276 + Missense_Mutation SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr8:103274276A>C ENST00000520539.1 - 55 8315 c.7709T>G c.(7708-7710)tTt>tGt p.F2570C UBR5_ENST00000521922.1_Missense_Mutation_p.F2563C|UBR5_ENST00000518205.1_Missense_Mutation_p.F298C|UBR5_ENST00000220959.4_Missense_Mutation_p.F2569C NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2570 HECT. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGGATCAAAAAAAGCAAAATC 0.343000 17 30 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25476039 25476039 + RNA SNP A A C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:25476039A>C ENST00000453082.2 + 0 1523 SNORD115-33_ENST00000363723.1_RNA NR_003343.1 ACTTAAAAATAATGCTCAATA 0.512000 6 456 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97869149 97869149 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:97869149G>A ENST00000437310.1 + 1 980 c.920G>A c.(919-921)aGa>aAa p.R307K NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGTTCAAAAGAAATGATGTT 0.303000 11 5 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857387 9857387 + Silent SNP C C T rs61758997 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:9857387C>T ENST00000396573.2 - 14 4323 c.4014G>A c.(4012-4014)ggG>ggA p.G1338G GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.G1338G|GRIN2A_ENST00000396575.2_Silent_p.G1338G NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1338 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AGCTTTTTTTCCCCGAGAGTT 0.552000 30 42 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461443 76461443 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:76461443G>A ENST00000307431.8 + 5 867 c.482G>A c.(481-483)tGg>tAg p.W161* CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.W137*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.W165*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.W161*|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 162 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CCTTTGGAATGGAACCCCAAG 0.408000 27 30 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143348 61143348 + RNA SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr20:61143348C>T ENST00000475015.1 - 0 990 C20orf166-AS1_ENST00000412495.1_RNA AGGGCCCTCCCCTGGACAAGG 0.682000 12 13 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126128626 126128626 + Silent SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:126128626C>T ENST00000373631.3 + 4 736 c.735C>T c.(733-735)ttC>ttT p.F245F CRB2_ENST00000359999.3_Silent_p.F245F NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 245 EGF-like 5. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TCGGGAGCTTCCGCTGCCTCT 0.736000 10 18 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102196336 102196336 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:102196336G>A ENST00000306176.1 + 11 1270 c.1170G>A c.(1168-1170)ctG>ctA p.L390L ZPLD1_ENST00000491959.1_Silent_p.L374L|ZPLD1_ENST00000466937.1_Silent_p.L374L NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 374 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CCAGCGCACTGATATCAGGAA 0.468000 109 101 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25313734 25313734 + Nonsense_Mutation SNP C C T rs139395919 by1000genomes TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr10:25313734C>T ENST00000524413.1 + 3 1929 c.1582C>T c.(1582-1584)Cga>Tga p.R528* THNSL1_ENST00000376356.4_Nonsense_Mutation_p.R528* Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 528 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AATCCCGATTCGAAAATTTAT 0.363000 28 51 0 0 1 0 0 LRFN5 145581 broad.mit.edu 37 14 42368155 42368155 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr14:42368155G>A ENST00000298119.4 + 5 3323 c.2134G>A c.(2134-2136)Gaa>Aaa p.E712K LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_3'UTR NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 712 integral to membrane p.E712*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GATTGTCCAGGAAACACAGGT 0.279000 HNSCC(30;0.082) 38 53 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2894600 2894600 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr17:2894600G>A ENST00000254695.8 + 12 913 c.823G>A c.(823-825)Gag>Aag p.E275K RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E256K|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E275K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E260K NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 275 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GACCCTGGAGGAGGAGCTATT 0.473000 4 0 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577107 158577107 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:158577107G>A ENST00000361284.1 + 1 879 c.879G>A c.(877-879)agG>agA p.R293R NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) ATAGTCTAAGGAATAGGGCTA 0.463000 104 111 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002110 98002110 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:98002110C>T ENST00000355273.2 + 1 379 c.379C>T c.(379-381)Cgc>Tgc p.R127C RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GGCATATGATCGCTATGTAGC 0.378000 41 39 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170724939 170724939 + Nonsense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:170724939G>A ENST00000314251.3 - 5 689 c.610C>T c.(610-612)Cag>Tag p.Q204* SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.Q85* NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 204 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GTTTTTACCTGACTAATAAGA 0.483000 17 12 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509498 28509498 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr16:28509498C>T ENST00000564831.1 + 3 3085 c.3052C>T c.(3052-3054)Cgt>Tgt p.R1018C APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C|APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1009 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GCCCTCTTTTCGTCGGACTCC 0.682000 4 9 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60689555 60689555 + Missense_Mutation SNP G G C TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:60689555G>C ENST00000227525.3 + 4 1053 c.650G>C c.(649-651)cGa>cCa p.R217P TMEM109_ENST00000536171.1_Missense_Mutation_p.R217P|RP11-881M11.4_ENST00000543907.1_RNA NM_024092.2 NP_076997.1 Q9BVC6 TM109_HUMAN transmembrane protein 109 217 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 GCCAAGGTGCGAGGGCTGGAA 0.706000 7 18 0 0 1 0 0 LINC00359 100887754 broad.mit.edu 37 13 97600276 97600276 + RNA SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr13:97600276G>A ENST00000442322.1 - 0 241 AAATCAGTTGGATCAGTGGAG 0.418000 3 12 0 0 1 0 0 C9orf142 286257 broad.mit.edu 37 9 139887846 139887846 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr9:139887846C>T ENST00000371620.3 + 5 499 c.473C>T c.(472-474)cCt>cTt p.P158L C9orf142_ENST00000493968.1_3'UTR NM_183241.1 NP_899064.1 Q9BUH6 CI142_HUMAN chromosome 9 open reading frame 142 158 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTGCAGGGCCTCAGCTCTTC 0.602000 5 1 0 0 1 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67171762 67171762 + Missense_Mutation SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr11:67171762G>A ENST00000312390.5 + 2 118 c.89G>A c.(88-90)gGg>gAg p.G30E TBC1D10C_ENST00000542590.1_Missense_Mutation_p.G30E|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.G30E NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 30 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGCTCAGCGGGCCTGGCCCA 0.687000 19 8 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263656 140263656 + Silent SNP G G A TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:140263656G>A ENST00000289272.2 + 1 1803 c.1803G>A c.(1801-1803)tcG>tcA p.S601S PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S601S|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCGATTCGGGCTACAATG 0.697000 76 5 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45661694 45661694 + Missense_Mutation SNP G G A rs147804855 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr15:45661694G>A ENST00000396659.3 - 3 653 c.314C>T c.(313-315)cCa>cTa p.P105L GATM_ENST00000558336.1_Missense_Mutation_p.P105L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 105 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CTGGTAAAATGGCCAGTACTT 0.363000 12 19 0 0 1 0 0 RANBP17 64901 broad.mit.edu 37 5 170346460 170346460 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr5:170346460C>T ENST00000523189.1 + 11 1281 c.1117C>T c.(1117-1119)Cct>Tct p.P373S NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 373 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGAATTTGCTCCTAACAGTGT 0.323000 T TRD@ ALL 27 31 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12164553 12164553 + Missense_Mutation SNP C C T TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:12164553C>T ENST00000263932.2 + 4 608 c.386C>T c.(385-387)tCt>tTt p.S129F TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S18F NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 129 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane p.S129F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TTCTTCCATTCTGTCTGTCCG 0.577000 26 22 0 0 1 0 0 LOC100129620 100129620 broad.mit.edu 37 1 99474094 99474094 + RNA DEL A A - rs57656522 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr1:99474094delA ENST00000425113.1 + 0 370 NR_033940.1 AACAGCAACTAAAAAAAAAAA 0.353 2 4 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 8 526 --- --- --- --- SRF 6722 broad.mit.edu 37 6 43139485 43139487 + In_Frame_Del DEL GGC GGC - TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr6:43139485_43139487delGGC ENST00000265354.4 + 1 449_451 c.91_93delGGC c.(91-93)del p.G35del NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 35 Gly-rich. angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) ggggcggccgggcggcggcggcg 0.818 2 4 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-EE-A3J8-06A-11D-A20D-08 TCGA-EE-A3J8-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx aec50919-7be5-4848-8a88-5055bff72f86 0c498759-5af7-4f87-b6bc-0443be965aed g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 7 17 --- --- --- ---