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 ERCC8 1161 broad.mit.edu 37 5 60186872 60186872 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:60186872C>T ENST00000426742.2 - 11 1145 c.711G>A c.(709-711)ttG>ttA p.L237L ERCC8_ENST00000543101.1_Silent_p.L142L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Silent_p.L295L Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 295 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) CAGTGAATTTCAATCCTTTTT 0.328000 8 100 0 0 1 0 0 MRPS12 6183 broad.mit.edu 37 19 39422995 39422995 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:39422995C>G ENST00000407800.2 + 2 413 c.72C>G c.(70-72)ctC>ctG p.L24L SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_Silent_p.L24L|MRPS12_ENST00000402029.3_Silent_p.L24L|CTC-360G5.8_ENST00000599996.1_Intron NM_021107.1 NP_066930.1 O15235 RT12_HUMAN mitochondrial ribosomal protein S12 24 translation mitochondrial ribosome|small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TTCCCCGGCTCTGGGCTACCT 0.622000 10 88 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46314558 46314558 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:46314558T>G ENST00000510861.1 - 5 604 c.431A>C c.(430-432)aAg>aCg p.K144T GABRA2_ENST00000540012.1_Missense_Mutation_p.K89T|GABRA2_ENST00000381620.4_Missense_Mutation_p.K144T|GABRA2_ENST00000515082.1_Missense_Mutation_p.K144T|GABRA2_ENST00000514090.1_Missense_Mutation_p.K144T|GABRA2_ENST00000507069.1_Missense_Mutation_p.K144T|GABRA2_ENST00000356504.1_Missense_Mutation_p.K144T P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 144 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGAAGCAACTTATTTGGCAT 0.338000 6 139 0 0 1 0 0 CAPZB 832 broad.mit.edu 37 1 19683147 19683147 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:19683147T>G ENST00000264203.3 - 7 1141 c.648A>C c.(646-648)ggA>ggC p.G216G CAPZB_ENST00000401084.2_Silent_p.G190G|CAPZB_ENST00000264202.6_Silent_p.G190G|CAPZB_ENST00000375144.1_Silent_p.G178G|CAPZB_ENST00000433834.1_Silent_p.G219G|CAPZB_ENST00000375142.1_Silent_p.G190G NM_001206541.2 NP_001193470.1 P47756 CAPZB_HUMAN capping protein (actin filament) muscle Z-line, beta 190 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TAAGGCTGCCTCCGAGGTTCA 0.577000 5 158 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235618938 235618938 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:235618938C>A ENST00000366600.3 - 9 1312 c.1084G>T c.(1084-1086)Gac>Tac p.D362Y NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 362 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GCTTCGAGGTCTATGTAACAG 0.413000 13 69 1.61879e-10 1.73896e-10 1 1 0 PER1 5187 broad.mit.edu 37 17 8044597 8044597 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:8044597G>C ENST00000317276.4 - 23 3899 c.3662C>G c.(3661-3663)tCa>tGa p.S1221* PER1_ENST00000581082.1_Nonsense_Mutation_p.S1198* NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1221 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATCCAGCTCTGAGAAGAGTGG 0.627000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 94 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677536 100677536 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:100677536A>C ENST00000306151.4 + 3 2903 c.2839A>C c.(2839-2841)Act>Cct p.T947P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 947 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) ACTTTCAGCAACTCCTGTTGA 0.512000 9 687 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230301 56230301 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:56230301T>C ENST00000279791.1 - 1 576 c.577A>G c.(577-579)Aaa>Gaa p.K193E NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GTGATTTCTTTGATGTGCACT 0.423000 4 59 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638175 56638175 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:56638175C>T ENST00000267116.7 - 25 2888 c.2767G>A c.(2767-2769)Gag>Aag p.E923K ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 923 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TTCTTGTTCTCATCCAACACA 0.507000 5 45 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4725372 4725372 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:4725372G>C ENST00000354582.6 + 28 3738 c.3388G>C c.(3388-3390)Gat>Cat p.D1130H ITPR1_ENST00000423119.2_Missense_Mutation_p.D1121H|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1121H|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1106H|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1115H|ITPR1_ENST00000302640.8_Missense_Mutation_p.D1115H|ITPR1_ENST00000544951.1_Intron Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1130 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACAAGACTTGGATCAACTGAG 0.463000 4 104 0 0 1 0 0 MRPS9 64965 broad.mit.edu 37 2 105665731 105665731 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:105665731G>C ENST00000258455.3 + 2 348 c.238G>C c.(238-240)Gag>Cag p.E80Q NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 80 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GCAGATTGAAGAGTTCAACAT 0.348000 4 110 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 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 30 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725251 106725251 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:106725251G>C ENST00000390609.2 - 0 379 CTGTTCATTTGCAGATACAGC 0.522000 7 645 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47856509 47856509 + Silent SNP G G A rs139215111 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:47856509G>A ENST00000328771.4 + 2 571 c.222G>A c.(220-222)aaG>aaA p.K74K NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 74 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGAATCTCAAGACCTCCAGGA 0.537000 4 125 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201193807 201193807 + Splice_Site SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:201193807G>T ENST00000335211.4 + 21 10421 c.10291G>T c.(10291-10293)Gcc>Tcc p.A3431S IGFN1_ENST00000295591.8_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCTTTCTCAGGCCATGCCCAT 0.532000 6 37 5.9392e-07 6.35236e-07 1 1 0 JUN 3725 broad.mit.edu 37 1 59247951 59247951 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:59247951G>C ENST00000371222.2 - 1 1834 c.792C>G c.(790-792)atC>atG p.I264M NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 264 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding p.I264M(1) breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) TGGAGGCAGCGATGCGGTTCC 0.612000 A sarcoma 6 77 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367546 58367546 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:58367546G>T ENST00000339656.5 + 2 290 c.108G>T c.(106-108)caG>caT p.Q36H ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q36H(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTGAGGCTCAGAGGTGCTTGT 0.498000 12 107 0.000219431 0.000227764 1 1 0 SMAD3 4088 broad.mit.edu 37 15 67477081 67477081 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:67477081C>T ENST00000327367.4 + 7 1198 c.888C>T c.(886-888)ctC>ctT p.L296L SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000537194.2_Silent_p.L101L|SMAD3_ENST00000439724.3_Silent_p.L252L NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 296 MH2.|Sufficient for interaction with XPO4. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GCGTGCGGCTCTACTACATCG 0.587000 4 62 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169437400 169437400 + Silent SNP G G A rs149313767 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:169437400G>A ENST00000236137.5 - 5 1550 c.1314C>T c.(1312-1314)ctC>ctT p.L438L SLC19A2_ENST00000367804.4_Silent_p.L237L NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 438 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CAATTAGAGTGAGCAGCGTCT 0.438000 13 82 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11898675 11898675 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:11898675G>A ENST00000346436.6 + 22 2539 c.2487G>A c.(2485-2487)acG>acA p.T829T CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T807T|CLCN6_ENST00000376496.3_Silent_p.T829T NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 829 CBS 2. cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGTTCAGAACGATGGGCCTGC 0.617000 OREG0013104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 70 0 0 1 0 0 IGLV2-8 28817 broad.mit.edu 37 22 23165585 23165585 + RNA SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:23165585C>A ENST00000390317.2 + 0 318 GTGGTTATAACTATGTCTCCT 0.577000 41 370 4.16155e-14 4.48026e-14 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168096396 168096396 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:168096396C>G ENST00000409195.1 + 6 979 c.890C>G c.(889-891)tCa>tGa p.S297* XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S297*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000409728.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S75* NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 122 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 GTTGGCACTTCAAGAAGCAGC 0.378000 5 78 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367498 58367498 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:58367498G>T ENST00000339656.5 + 2 242 c.60G>T c.(58-60)gtG>gtT p.V20V ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V20V|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Silent_p.V19V|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TTGAAGATGTGGCTGTGAACT 0.527000 7 157 0.00829132 0.00844581 1 1 0 PDIA4 9601 broad.mit.edu 37 7 148702312 148702312 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:148702312C>G ENST00000286091.4 - 9 1675 c.1443G>C c.(1441-1443)gaG>gaC p.E481D NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 481 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TCTTCCCACTCTCGTCCAGGA 0.582000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 192 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155508040 155508040 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:155508040G>A ENST00000302053.3 - 5 619 c.541C>T c.(541-543)Cga>Tga p.R181* FGA_ENST00000403106.3_Nonsense_Mutation_p.R181* NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 181 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) CATGACCCTCGACAAGATCGG 0.403000 4 83 0 0 1 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39413828 39413828 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:39413828G>A ENST00000361441.4 + 3 512 c.232G>A c.(232-234)Gac>Aac p.D78N APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) GTTCTGCGACGACATACTGTC 0.572000 7 213 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507068 26507068 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:26507068C>T ENST00000361530.6 + 2 322 c.177C>T c.(175-177)ctC>ctT p.L59L CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Silent_p.L59L Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 59 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGGAGCTCATCCTGGGCG 0.642000 9 60 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160819070 160819070 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:160819070C>G ENST00000392145.1 + 2 516 c.489C>G c.(487-489)ctC>ctG p.L163L SLC22A3_ENST00000275300.2_Silent_p.L163L O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 163 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TCCTGAACCTCGGCTTCCTGA 0.463000 4 124 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195953840 195953840 + Silent SNP G G T rs145068718 byFrequency TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:195953840G>T ENST00000296327.5 + 3 347 c.138G>T c.(136-138)ctG>ctT p.L46L NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit CTCTAGCCCTGGGCCCTGTGG 0.592000 7 88 0.00198382 0.00203341 1 1 0 ANO6 196527 broad.mit.edu 37 12 45803231 45803231 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:45803231A>G ENST00000320560.8 + 16 2174 c.1972A>G c.(1972-1974)Atg>Gtg p.M658V ANO6_ENST00000435642.1_Missense_Mutation_p.M658V|ANO6_ENST00000425752.2_Missense_Mutation_p.M658V|ANO6_ENST00000423947.3_Missense_Mutation_p.M679V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.M640V NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 658 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.M658V(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCTGCAGCCTATGGGCAAACT 0.378000 10 155 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521941 49521941 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:49521941C>G ENST00000336023.5 - 4 1250 c.1156G>C c.(1156-1158)Gag>Cag p.E386Q RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 386 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GCCCAGGCCTCAGCAATGGCT 0.577000 4 81 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970461 115970461 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:115970461C>T ENST00000251864.2 + 12 1659 c.1506C>T c.(1504-1506)caC>caT p.H502H TDRD1_ENST00000369281.2_Silent_p.H502H|TDRD1_ENST00000422662.1_Silent_p.H163H|TDRD1_ENST00000369280.1_Silent_p.H502H|TDRD1_ENST00000369282.1_Silent_p.H502H NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 502 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGGTTGCCCACATTCAAACAC 0.383000 11 85 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112496 44112496 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:44112496C>G ENST00000361807.3 + 5 1199 c.1005C>G c.(1003-1005)ttC>ttG p.F335L ZNF485_ENST00000374435.3_Missense_Mutation_p.F335L|ZNF485_ENST00000374437.2_Missense_Mutation_p.F244L NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GAAAATCTTTCAGGTATAGCT 0.428000 11 83 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109854613 109854613 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:109854613T>C ENST00000424296.2 - 28 3487 c.3411A>G c.(3409-3411)ggA>ggG p.G1137G AK9_ENST00000355283.1_Silent_p.G216G|AK9_ENST00000341338.6_Silent_p.G216G NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATCCACGATCTCCCAAAAACT 0.358000 6 110 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588547 247588547 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:247588547C>G ENST00000366497.2 + 4 2582 c.1802C>G c.(1801-1803)tCt>tGt p.S601C NLRP3_ENST00000366496.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391827.2_Missense_Mutation_p.S601C|NLRP3_ENST00000348069.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S601C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S601C|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 601 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCAAGATCTCTCAGCAAATC 0.443000 10 70 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560153 210560153 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:210560153G>A ENST00000360351.4 + 7 3765 c.3259G>A c.(3259-3261)Gag>Aag p.E1087K MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1083K|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1087 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCACCGCAGGAGGCAGATGC 0.488000 4 84 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79255389 79255389 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:79255389A>T ENST00000272324.5 + 6 699 c.515A>T c.(514-516)aAg>aTg p.K172M REG3G_ENST00000409471.1_Missense_Mutation_p.K126M|REG3G_ENST00000393897.2_Missense_Mutation_p.K172M NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 172 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TATGTCTGCAAGTTCAAGGAC 0.483000 4 93 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185704088 185704088 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:185704088G>A ENST00000271588.4 + 1 406 c.177G>A c.(175-177)gtG>gtA p.V59V HMCN1_ENST00000367492.2_Silent_p.V59V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 59 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAGTTCAGGTGATTGAAGGGG 0.453000 5 101 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3757700 3757700 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:3757700C>T ENST00000252322.1 - 11 1594 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron NM_032680.3 NP_116069.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 376 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) CAGTGCCCACCGACGCACCTT 0.597000 7 39 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475338 50475338 + RNA SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:50475338C>G ENST00000602139.1 + 0 1284 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGCGCGTCTCTCTCAGCTTC 0.667000 6 41 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620611 8620611 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:8620611G>A ENST00000338257.8 - 2 340 c.73C>T c.(73-75)Ctt>Ttt p.L25F NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 25 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 ATCTGGGGAAGAAGCACCATG 0.647000 4 64 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94197621 94197621 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:94197621A>G ENST00000377047.4 + 2 881 c.266A>G c.(265-267)gAg>gGg p.E89G NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 89 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CTTGTGGAAGAGACAAGCCAT 0.403000 7 181 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9021200 9021200 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:9021200C>G ENST00000299698.7 + 32 4309 c.4129C>G c.(4129-4131)Ccc>Gcc p.P1377A A2ML1_ENST00000539547.1_Missense_Mutation_p.P886A NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1221 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGGTTCAGTCCCATGGAGGG 0.423000 10 141 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294698 77294698 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:77294698C>T ENST00000393774.3 + 2 277 c.153C>T c.(151-153)tcC>tcT p.S51S C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Silent_p.S34S NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 51 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGGCCGAATCCCCGCCGACTG 0.502000 15 55 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160097407 160097407 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:160097407G>A ENST00000361216.3 + 8 903 c.814G>A c.(814-816)Gcc>Acc p.A272T ATP1A2_ENST00000392233.3_Missense_Mutation_p.A272T NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 272 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCTACTCTCGCCTCAGGCCT 0.587000 14 77 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186644473 186644473 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:186644473A>G ENST00000367468.5 - 9 1449 c.1313T>C c.(1312-1314)aTt>aCt p.I438T PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 438 I -> T (in Ref. 1; AAA35803). cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GCTCTGGTCAATGGAAGCCTG 0.398000 6 88 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205799455 205799455 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:205799455G>A ENST00000367136.4 - 12 1382 c.1338C>T c.(1336-1338)ggC>ggT p.G446G PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 446 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACCTGTAGATGCCAGTGGTGA 0.448000 7 80 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131502 35131502 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:35131502G>A ENST00000436258.1 - 0 1867 ACAATGGGATGAAGTGTAGAC 0.408000 12 85 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183707229 183707229 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:183707229T>C ENST00000295113.4 - 3 1178 c.569A>G c.(568-570)tAt>tGt p.Y190C NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 190 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GTTCCGGAAATAGGTCTTCTG 0.363000 7 108 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741280 207741280 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:207741280A>G ENST00000367049.4 + 25 4064 c.4064A>G c.(4063-4065)gAc>gGc p.D1355G RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.D905G|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.D905G|CR1_ENST00000400960.2_Missense_Mutation_p.D905G NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 905 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCCCACCCAGACAGAGGGACG 0.542000 7 209 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94034041 94034041 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:94034041G>A ENST00000297268.6 + 8 832 c.361G>A c.(361-363)Ggt>Agt p.G121S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 121 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGAGCCTGGTGAACCTGG 0.383000 HNSCC(75;0.22) 8 161 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201060815 201060815 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:201060815T>C ENST00000362061.3 - 5 873 c.647A>G c.(646-648)gAg>gGg p.E216G CACNA1S_ENST00000367338.3_Missense_Mutation_p.E216G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 216 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGAAGAGCTCCAGCCCGAT 0.557000 8 111 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 4 142 1.23904e-05 1.30537e-05 1 1 0 ZNF202 7753 broad.mit.edu 37 11 123601209 123601209 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:123601209T>C ENST00000336139.4 - 3 750 c.388A>G c.(388-390)Aga>Gga p.R130G ZNF202_ENST00000530393.1_Missense_Mutation_p.R130G|ZNF202_ENST00000529691.1_Missense_Mutation_p.R130G O95125 ZN202_HUMAN zinc finger protein 202 130 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CGCCTTGGTCTCCTGGGTTGT 0.607000 6 135 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166406 151166406 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:151166406C>T ENST00000282466.3 - 4 1362 c.1363G>A c.(1363-1365)Gat>Aat p.D455N NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 455 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTTGAGCATCACTGGAGTAC 0.423000 11 111 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723368 21723368 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:21723368C>G ENST00000399496.3 + 3 355 c.190C>G c.(190-192)Cag>Gag p.Q64E CABYR_ENST00000327201.6_Intron|CABYR_ENST00000415309.2_Missense_Mutation_p.Q64E|CABYR_ENST00000399499.1_Missense_Mutation_p.Q64E|CABYR_ENST00000581397.1_Missense_Mutation_p.Q64E|CABYR_ENST00000399481.2_Intron NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 64 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) ACAATTTCATCAGATTAAAGG 0.284000 3 31 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84804399 84804399 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:84804399A>T ENST00000389394.3 + 13 2080 c.1943A>T c.(1942-1944)gAa>gTa p.E648V DNAH6_ENST00000398278.2_Missense_Mutation_p.E648V|DNAH6_ENST00000237449.6_Missense_Mutation_p.E648V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 648 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TTTTTTAGTGAACAACTGGAA 0.303000 6 87 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10404756 10404756 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:10404756G>C ENST00000221980.4 + 8 1815 c.1752G>C c.(1750-1752)tgG>tgC p.W584C NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 584 Ig-like C2-type 7. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCAGCAATTGGACATGGGTGG 0.652000 8 102 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6853999 6853999 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:6853999G>A ENST00000304076.2 + 25 2402 c.2308G>A c.(2308-2310)Gac>Aac p.D770N VAV1_ENST00000602142.1_Missense_Mutation_p.D792N|VAV1_ENST00000539284.1_Missense_Mutation_p.D695N|VAV1_ENST00000596764.1_Missense_Mutation_p.D760N|VAV1_ENST00000599806.1_Missense_Mutation_p.D737N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 792 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AGCCCGCTATGACTTCTGCGC 0.537000 5 129 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26136235 26136235 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:26136235C>G ENST00000361547.2 + 7 989 c.934C>G c.(934-936)Cag>Gag p.Q312E SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278E|SEPN1_ENST00000374315.1_Missense_Mutation_p.Q278E NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 312 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCCTGCTCAGTTCACCGG 0.637000 5 80 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63185416 63185416 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:63185416G>C ENST00000449996.3 + 10 730 c.658G>C c.(658-660)Gtt>Ctt p.V220L RGS9_ENST00000443584.3_Missense_Mutation_p.V220L|RGS9_ENST00000262406.9_Missense_Mutation_p.V223L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 223 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ACAAACAGTCGTTGCTGTCAA 0.353000 13 173 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30518129 30518129 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:30518129C>A ENST00000356798.6 + 21 2640 c.2460C>A c.(2458-2460)gaC>gaA p.D820E ITGAL_ENST00000358164.5_Missense_Mutation_p.D736E|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 820 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCCAGCTGGACCTGCACTTCC 0.602000 35 237 1.06647e-15 1.15067e-15 1 1 0 FAM63B 54629 broad.mit.edu 37 15 59144044 59144044 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:59144044A>G ENST00000559228.1 + 8 1699 c.1617A>G c.(1615-1617)ggA>ggG p.G539G FAM63B_ENST00000450403.2_Silent_p.G539G Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 539 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TCCCGGAAGGAATCAGTGATT 0.413000 4 71 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202322 248202322 + Nonsense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:248202322T>A ENST00000366479.2 + 1 849 c.753T>A c.(751-753)taT>taA p.Y251* OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTTCTACTATGCACCCTTTG 0.512000 17 145 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149901793 149901793 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:149901793G>T ENST00000439741.2 - 16 1913 c.1663C>A c.(1663-1665)Cct>Act p.P555T MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P483T|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 555 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGGGGTCCAGGAACCATGAAG 0.532000 7 82 2.0095e-06 2.13536e-06 1 1 0 MYD88 4615 broad.mit.edu 37 3 38182641 38182641 + Nonstop_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:38182641T>C ENST00000495303.1 + 3 483 c.478T>C c.(478-480)Tga>Cga p.*160R MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.L273P|MYD88_ENST00000443433.2_Nonstop_Mutation_p.*205R|MYD88_ENST00000396334.3_Missense_Mutation_p.L265P|MYD88_ENST00000424893.1_Missense_Mutation_p.L220P NM_001172566.1 NP_001166037.1 Q99836 MYD88_HUMAN myeloid differentiation primary response 88 0 TIR. 3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|intrinsic to membrane|plasma membrane death receptor binding|TIR domain binding|transmembrane receptor activity p.L265P(188) breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 237 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CAGAAGCGACTGATCCCCATC 0.552000 Mis ABC-DLBCL 8 65 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123104941 123104941 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:123104941A>G ENST00000466202.1 - 10 2280 c.1704T>C c.(1702-1704)ttT>ttC p.F568F IQUB_ENST00000324698.6_Silent_p.F568F|IQUB_ENST00000434450.1_Silent_p.F568F NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 568 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATAATGAAAAAAGAGTGTCG 0.333000 5 124 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748205 43748205 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:43748205T>C ENST00000263801.3 - 12 2838 c.2586A>G c.(2584-2586)tcA>tcG p.S862S TP53BP1_ENST00000450115.2_Silent_p.S867S|TP53BP1_ENST00000382039.3_Silent_p.S867S|TP53BP1_ENST00000382044.4_Silent_p.S867S|TP53BP1_ENST00000605155.1_5'UTR NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 862 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTTCTGTTAATGAATTACTTG 0.468000 Other conserved DNA damage response genes 8 182 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173322581 173322581 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:173322581A>T ENST00000457714.1 + 3 622 c.193A>T c.(193-195)Att>Ttt p.I65F NLGN1_ENST00000361589.4_Missense_Mutation_p.I65F|NLGN1_ENST00000545397.1_Missense_Mutation_p.I65F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I65F NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 65 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) GATAAGAGGGATTAAGAAGGA 0.458000 6 112 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149068 73149068 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:73149068G>A ENST00000286657.4 - 22 3439 c.3403C>T c.(3403-3405)Cag>Tag p.Q1135* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1135 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCTGCTTGCTGAGCACTCCTC 0.512000 4 98 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147343 154147343 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:154147343T>C ENST00000389740.2 - 1 161 c.62A>G c.(61-63)aAt>aGt p.N21S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 21 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTCCGTAGAATTATGATTCTC 0.373000 11 129 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055835 167055835 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:167055835C>G ENST00000303354.6 - 27 5657 c.5317G>C c.(5317-5319)Gaa>Caa p.E1773Q AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1772Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.E1773Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1761Q Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1772 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCAGAGGTTCAGTACTTTCT 0.398000 9 165 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123687413 123687413 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:123687413C>T ENST00000369043.3 - 1 138 c.52G>A c.(52-54)Gag>Aag p.E18K ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000224652.6_Missense_Mutation_p.E18K|ATE1_ENST00000543447.1_5'UTR NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 18 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TAGAAGTCCTCGCTAGGGAAA 0.726000 3 15 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223513457 223513457 + Splice_Site SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:223513457A>G ENST00000281828.6 - 2 378 c.e2+1 FARSB_ENST00000536361.1_Splice_Site NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TCCAATACATACAATTTCATC 0.308000 9 120 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50326368 50326368 + Splice_Site SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:50326368C>A ENST00000436390.1 - 12 1383 c.886G>T c.(886-888)Gag>Tag p.E296* IFRD2_ENST00000417626.2_Splice_Site_p.E296*|IFRD2_ENST00000429673.2_Splice_Site_p.E360*|IFRD2_ENST00000336089.4_Splice_Site_p.E462* Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 360 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ACAAACTCCTCCTGCAATGGG 0.577000 3 28 0.115264 0.115971 1 1 0 CLIP1 6249 broad.mit.edu 37 12 122862450 122862450 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:122862450G>A ENST00000358808.2 - 3 297 c.143C>T c.(142-144)tCt>tTt p.S48F CLIP1_ENST00000302528.7_Missense_Mutation_p.S48F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S48F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S48F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S48F NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 48 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGAGTCTCAGATGATGGAGT 0.403000 13 279 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206617 70206617 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:70206617C>G ENST00000550536.1 + 9 1695 c.1238C>G c.(1237-1239)tCa>tGa p.S413* RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.S191*|AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.S38*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000362025.5_Intron|RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.S104*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.S397* NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 413 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TTAGGGGACTCAAGCAACTAT 0.323000 4 91 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10235527 10235527 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:10235527G>C ENST00000418404.3 - 19 2350 c.2187C>G c.(2185-2187)ctC>ctG p.L729L RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L729L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 729 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CACTGGCATTGAGGATCCGGT 0.507000 7 87 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133946 119133946 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:119133946T>G ENST00000264245.4 + 12 3702 c.3170T>G c.(3169-3171)aTt>aGt p.I1057S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1057 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGTCCACAGATTAGGCAAGGT 0.592000 12 200 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101271436 101271436 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:101271436G>C ENST00000519449.1 - 11 2181 c.1865C>G c.(1864-1866)tCa>tGa p.S622* RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S622*|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 622 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GGATGGCTTTGACTCAATATC 0.443000 OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 140 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35913902 35913902 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:35913902G>C ENST00000325722.3 - 16 2619 c.2385C>G c.(2383-2385)atC>atG p.I795M KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I232M NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 795 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGATATCCAAGATGATCTCCA 0.502000 6 99 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59175901 59175901 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:59175901G>C ENST00000380516.2 - 20 3007 c.2920C>G c.(2920-2922)Caa>Gaa p.Q974E SLTM_ENST00000536328.1_Missense_Mutation_p.Q543E NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 974 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTAGGCCCTTGAGAGGGTGGA 0.507000 13 128 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211412 249211412 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:249211412A>G ENST00000539153.1 + 4 875 c.620A>G c.(619-621)cAt>cGt p.H207R PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.H210R|PGBD2_ENST00000462488.1_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 210 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACATCATCATCTTGTGGCT 0.398000 15 145 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8862693 8862693 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:8862693A>G ENST00000396600.2 + 11 1617 c.679A>G c.(679-681)Acc>Gcc p.T227A ABAT_ENST00000268251.8_Missense_Mutation_p.T227A|ABAT_ENST00000567812.1_Missense_Mutation_p.T242A|ABAT_ENST00000425191.2_Missense_Mutation_p.T227A|ABAT_ENST00000569156.1_Missense_Mutation_p.T227A NM_000663.4 NP_000654.2 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase 227 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TTGCTTAGCGACCACGCACTC 0.502000 9 317 0 0 1 0 0 LRMP 4033 broad.mit.edu 37 12 25232375 25232375 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:25232375G>A ENST00000354454.3 + 7 944 c.115G>A c.(115-117)Gac>Aac p.D39N LRMP_ENST00000547044.1_Missense_Mutation_p.D39N|LRMP_ENST00000548766.1_Missense_Mutation_p.D39N NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 95 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) TTCATCGACAGACGGTACTAT 0.383000 18 129 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294852 5294852 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:5294852A>G ENST00000546004.1 - 2 410 c.164T>C c.(163-165)gTc>gCc p.V55A PROKR2_ENST00000217270.3_Missense_Mutation_p.V55A Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 55 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AATGCCAATGACGATCTTGGC 0.517000 HNSCC(71;0.22) 7 75 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009123 5009123 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:5009123T>A ENST00000250076.3 - 5 1985 c.1331A>T c.(1330-1332)cAt>cTt p.H444L ZNF232_ENST00000575898.1_Missense_Mutation_p.H435L NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 417 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TTCAATTCAATGGGAAGGCTC 0.403000 5 137 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13251182 13251182 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:13251182C>T ENST00000262487.4 + 2 176 c.170C>T c.(169-171)tCa>tTa p.S57L TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GACACCACATCAGAAACCAGC 0.473000 5 20 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466257 56466257 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:56466257C>A ENST00000291971.3 + 3 904 c.833C>A c.(832-834)cCc>cAc p.P278H NLRP8_ENST00000590542.1_Missense_Mutation_p.P278H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 278 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ATGTCCAAACCCGACCAACTT 0.517000 9 217 0.0135373 0.0137044 1 1 0 GJA1 2697 broad.mit.edu 37 6 121769060 121769060 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:121769060T>G ENST00000282561.3 + 2 1224 c.1067T>G c.(1066-1068)cTa>cGa p.L356R NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 356 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TTACAGCCACTAGCCATTGTG 0.507000 6 74 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620604 8620604 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:8620604T>G ENST00000338257.8 - 2 347 c.80A>C c.(79-81)cAg>cCg p.Q27P NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 27 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TTCGGTGATCTGGGGAAGAAG 0.642000 4 69 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43576076 43576076 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:43576076G>C ENST00000406487.1 - 4 838 c.740C>G c.(739-741)tCa>tGa p.S247* NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 247 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATTGGTGTATGAAGGGTGAAT 0.483000 4 228 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11984690 11984690 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:11984690C>T ENST00000356352.2 - 17 3825 c.3352G>A c.(3352-3354)Gat>Aat p.D1118N UPF2_ENST00000397053.2_Missense_Mutation_p.D1118N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1118N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1118 Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATCATTTTATCCAGAGCTTGA 0.348000 4 82 0 0 1 0 0 ANAPC16 119504 broad.mit.edu 37 10 73992847 73992847 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:73992847G>T ENST00000299381.4 + 4 424 c.306G>T c.(304-306)ctG>ctT p.L102L ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 102 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 TCGAGCAGCTGCTGGGATTCA 0.537000 4 51 0.00909568 0.00922696 1 1 0 SLC35A4 113829 broad.mit.edu 37 5 139947713 139947713 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:139947713A>G ENST00000514199.1 + 2 2645 c.959A>G c.(958-960)tAc>tGc p.Y320C APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y320C Q96G79 S35A4_HUMAN solute carrier family 35, member A4 320 Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGCCTGTACTATGGCAGC 0.627000 4 46 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59857824 59857824 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:59857824A>G ENST00000278888.3 + 3 304 c.202A>G c.(202-204)Act>Gct p.T68A NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 68 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) ACAAATTCTGACTGCTATGAT 0.313000 12 185 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254054 61254054 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:61254054G>A ENST00000338608.2 + 9 931 c.806G>A c.(805-807)cGa>cAa p.R269Q PPP1R32_ENST00000432063.2_Missense_Mutation_p.R249Q NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 269 GCCTTCAGCCGAGGGAATGAA 0.577000 4 41 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123220471 123220471 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:123220471C>T ENST00000371160.1 + 30 3418 c.3128C>T c.(3127-3129)tCt>tTt p.S1043F STAG2_ENST00000354548.5_Missense_Mutation_p.S974F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371145.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371144.3_Missense_Mutation_p.S1043F|STAG2_ENST00000218089.9_Missense_Mutation_p.S1043F NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 1043 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CCACTGATGTCTTACCGAAAT 0.428000 6 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061280 9061280 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:9061280T>G ENST00000397910.4 - 3 26369 c.26166A>C c.(26164-26166)gcA>gcC p.A8722A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8724 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 TTCTCTCTGTTGCTGAGCTGG 0.507000 6 73 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39812837 39812837 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:39812837C>T ENST00000216160.6 + 4 428 c.366C>T c.(364-366)gaC>gaT p.D122D TAB1_ENST00000331454.3_Silent_p.D122D NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 122 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 AGTCCATTGACGACGCCTTGG 0.582000 8 75 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51824752 51824752 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:51824752C>T ENST00000371117.3 - 36 6099 c.5824G>A c.(5824-5826)Gat>Aat p.D1942N PKHD1_ENST00000340994.4_Missense_Mutation_p.D1942N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1942 G8 1. D -> G (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTGTCGCCATCTTGTGGCAGC 0.493000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 159 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053438 17053438 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:17053438A>G ENST00000418129.2 + 2 2687 c.2222A>G c.(2221-2223)gAg>gGg p.E741G PLCL2_ENST00000432376.1_Missense_Mutation_p.E741G|PLCL2_ENST00000396755.2_Missense_Mutation_p.E741G NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 867 C2. 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 TTAACTGGAGAGGTCCTTGCA 0.483000 14 130 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11977056 11977056 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:11977056A>G ENST00000304030.2 + 1 285 c.85A>G c.(85-87)Acc>Gcc p.T29A ZNF439_ENST00000455282.1_Intron|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 TGTGAACTTCACCCAGGAGGA 0.493000 9 232 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918138 26918138 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:26918138C>T ENST00000539517.2 - 5 868 c.551G>A c.(550-552)gGt>gAt p.G184D NOVA1_ENST00000465357.2_Missense_Mutation_p.G160D|NOVA1_ENST00000267422.7_Missense_Mutation_p.G62D NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 187 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TATTATCAGACCTGCTGTGCT 0.393000 8 144 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171829 104171829 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:104171829G>A ENST00000374861.3 + 3 2021 c.1737G>A c.(1735-1737)gtG>gtA p.V579V ZNF189_ENST00000339664.2_Silent_p.V593V|ZNF189_ENST00000259395.4_Silent_p.V551V NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 593 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) ATGCAGAGGTGAAAACCCAAG 0.428000 5 76 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74231402 74231402 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:74231402G>A ENST00000240285.5 + 3 1275 c.597G>A c.(595-597)ttG>ttA p.L199L RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Silent_p.L34L NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 199 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CAAGTTCCTTGGGATTGTTCA 0.398000 8 189 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74580640 74580640 + Splice_Site SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:74580640G>C ENST00000253159.8 + 4 555 c.e4-1 ZNF236_ENST00000583095.1_Splice_Site|ZNF236_ENST00000320610.9_Splice_Site NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TTCTCTTCCAGAATCTCATCT 0.488000 17 161 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454713 6454713 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:6454713C>T ENST00000301454.4 - 5 605 c.499G>A c.(499-501)Gag>Aag p.E167K SLC25A23_ENST00000334510.5_Missense_Mutation_p.E167K NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 167 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 GTCAGGCACTCGCCAATGTCC 0.577000 5 118 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44512948 44512948 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:44512948G>C ENST00000429154.2 + 3 250 c.22G>C c.(22-24)Gtg>Ctg p.V8L ZNF230_ENST00000585632.1_Missense_Mutation_p.V8L NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 8 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) ATAGGAGGCAGTGACCTTCAA 0.522000 6 212 0 0 1 0 0 MRPL39 54148 broad.mit.edu 37 21 26965191 26965191 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr21:26965191T>G ENST00000307301.7 - 8 895 c.854A>C c.(853-855)aAt>aCt p.N285T MRPL39_ENST00000352957.4_Missense_Mutation_p.N285T NM_080794.3 NP_542984 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 285 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 GGGTTGAAGATTGTGAACTGC 0.398000 4 119 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39903608 39903608 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:39903608G>C ENST00000564288.1 + 71 18925 c.18148G>C c.(18148-18150)Gag>Cag p.E6050Q MACF1_ENST00000317713.7_Missense_Mutation_p.E3991Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3861Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3991Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5949Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4493Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3991Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6087Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6062 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCATCCTTTGAGGCCTTGAA 0.478000 4 106 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815034 95815034 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:95815034G>T ENST00000295208.2 - 5 1658 c.1196C>A c.(1195-1197)aCc>aAc p.T399N MRPS5_ENST00000475040.1_5'UTR|ZNF514_ENST00000411425.1_Missense_Mutation_p.T399N NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AATTTATAGGGTTTTTTTTCC 0.398000 13 138 9.31168e-06 9.87359e-06 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38130999 38130999 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:38130999G>C ENST00000406386.3 + 9 4911 c.4656G>C c.(4654-4656)gaG>gaC p.E1552D NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1552 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GTGGCTCTGAGAGGCGACCCG 0.687000 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 81 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43708311 43708311 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:43708311G>A ENST00000405312.3 - 2 394 c.157C>T c.(157-159)Cta>Tta p.L53L PSG4_ENST00000433626.2_Silent_p.L53L|PSG4_ENST00000244295.9_Silent_p.L53L NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 53 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TGGACAAGTAGAAGAACATCC 0.458000 14 169 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36570055 36570055 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:36570055A>T ENST00000431169.1 - 19 1791 c.1491T>A c.(1489-1491)aaT>aaA p.N497K AOAH_ENST00000535891.1_Missense_Mutation_p.N465K|AOAH_ENST00000258749.5_Missense_Mutation_p.N497K|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000538464.1_Missense_Mutation_p.N219K NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 497 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGTAGAAAAGATTGAAGTTTG 0.408000 8 64 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90004276 90004276 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:90004276C>G ENST00000428670.3 - 14 2713 c.2257G>C c.(2257-2259)Gag>Cag p.E753Q ATP2B1_ENST00000393164.2_Missense_Mutation_p.E496Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E753Q|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E753Q P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 753 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TCTATCCTCTCTTGCTCAATC 0.338000 24 154 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70267647 70267647 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:70267647G>A ENST00000301843.8 + 11 1068 c.862G>A c.(862-864)Gat>Aat p.D288N CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000376561.3_Intron NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 288 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGTGGGGTTTGATTACAAGGA 0.562000 18 257 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37037819 37037819 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:37037819C>T ENST00000334116.7 - 6 1936 c.1326G>A c.(1324-1326)ggG>ggA p.G442G ZNF529_ENST00000591340.1_Silent_p.G547G NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AAGTAAGATGCCCAACAACAC 0.348000 5 69 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145060236 145060236 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:145060236G>A ENST00000313028.7 - 2 262 c.168C>T c.(166-168)ttC>ttT p.F56F PARP10_ENST00000525773.1_Silent_p.F68F|PARP10_ENST00000524918.1_Silent_p.F56F|PARP10_ENST00000533665.1_Intron NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 56 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGCTCTCTGAAGGTGAGGA 0.632000 8 53 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51705249 51705249 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:51705249T>A ENST00000522124.1 + 19 2075 c.1414T>A c.(1414-1416)Tta>Ata p.L472I SNTG1_ENST00000276467.5_Missense_Mutation_p.L435I|SNTG1_ENST00000517473.1_Missense_Mutation_p.L435I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L472I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 472 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTTTCTAATTTATTTGCTGT 0.333000 11 170 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422033 64422033 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:64422033G>C ENST00000262043.3 + 16 4889 c.4549G>C c.(4549-4551)Gat>Cat p.D1517H PHF3_ENST00000393387.1_Missense_Mutation_p.D1517H Q92576 PHF3_HUMAN PHD finger protein 3 1517 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GGAAGTAACTGATGGTGAAAA 0.343000 5 71 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086083 128086083 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:128086083C>T ENST00000470056.1 + 9 1899 c.1739C>T c.(1738-1740)tCa>tTa p.S580L GAPVD1_ENST00000394105.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S559L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S580L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S580L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.S580L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S559L Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 580 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTAGGTCCTTCAAATCGCTCC 0.418000 5 65 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48824972 48824972 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:48824972G>C ENST00000314191.2 - 25 2988 c.2932C>G c.(2932-2934)Cag>Gag p.Q978E PRKDC_ENST00000338368.3_Missense_Mutation_p.Q978E|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 978 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCCCTTACCTGATCAACATCA 0.473000 Non-homologous end-joining 5 163 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725254 106725254 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:106725254G>A ENST00000390609.2 - 0 376 TTCATTTGCAGATACAGCGTG 0.522000 7 658 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88577665 88577665 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:88577665C>T ENST00000339673.6 + 2 120 c.21C>T c.(19-21)ctC>ctT p.L7L DMP1_ENST00000282479.7_Silent_p.L7L|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 7 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GCATCCTGCTCATGTTCCTTT 0.388000 6 122 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196118708 196118708 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:196118708C>G ENST00000296328.4 - 5 518 c.444G>C c.(442-444)ttG>ttC p.L148F UBXN7_ENST00000428095.1_Intron|UBXN7_ENST00000535858.1_5'UTR NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 148 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CTTTATGCATCAAATCAATGG 0.358000 7 93 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111413387 111413387 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:111413387G>C ENST00000535254.1 - 15 1812 c.1745C>G c.(1744-1746)tCt>tGt p.S582C BUB1_ENST00000409311.1_Missense_Mutation_p.S602C|BUB1_ENST00000302759.6_Missense_Mutation_p.S602C NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 602 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TTGTGCAGCAGATGTGAAGTC 0.473000 17 214 0 0 1 0 0 TAS2R50 259296 broad.mit.edu 37 12 11139049 11139049 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:11139049C>T ENST00000506868.1 - 1 462 c.411G>A c.(409-411)ttG>ttA p.L137L PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 137 sensory perception of taste integral to membrane G-protein coupled receptor activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 CCAAAAATATCAAAGTCCCCA 0.368000 27 251 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459667 9459667 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:9459667C>G ENST00000379719.3 + 22 2672 c.2530C>G c.(2530-2532)Ctt>Gtt p.L844V NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 844 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACTCTGTGCTCTTATTGATAT 0.313000 9 192 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104170832 104170832 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:104170832A>G ENST00000374861.3 + 3 1024 c.740A>G c.(739-741)aAa>aGa p.K247R ZNF189_ENST00000339664.2_Missense_Mutation_p.K261R|ZNF189_ENST00000259395.4_Missense_Mutation_p.K219R NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 261 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AAACCCCATAAATGTAGTGAC 0.418000 18 254 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052078 9052078 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:9052078G>A ENST00000382496.5 - 20 3417 c.2752C>T c.(2752-2754)Cgc>Tgc p.R918C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 918 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATGCACTGGCGGGCGCGGACT 0.612000 3 41 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177605138 177605138 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:177605138T>C ENST00000280193.2 - 7 1617 c.1202A>G c.(1201-1203)tAt>tGt p.Y401C RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 401 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTCTTCACTATATGAAAATCC 0.413000 4 124 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441726 179441726 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:179441726G>A ENST00000589042.1 - 324 69560 c.69336C>T c.(69334-69336)ttC>ttT p.F23112F TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.F20544F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.F14239F|TTN_ENST00000591111.1_Silent_p.F21471F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.F14172F|TTN_ENST00000460472.2_Silent_p.F14047F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21471 Ig-like 118. 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) CTGAGACCCGGAAGATGTACT 0.443000 15 272 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39084853 39084853 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:39084853C>G ENST00000209718.3 - 5 1067 c.643G>C c.(643-645)Gag>Cag p.E215Q AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E78Q NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 215 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TGATGCTTCTCCATTTCCTAT 0.408000 6 145 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811698 7811698 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:7811698G>A ENST00000381059.3 + 3 481 c.262G>A c.(262-264)Gag>Aag p.E88K VCX_ENST00000341408.4_Missense_Mutation_p.E88K NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 88 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) CCCTCAGCACGAGCTGCCGCC 0.711000 7 45 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16559112 16559112 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:16559112G>C ENST00000375599.3 - 4 839 c.420C>G c.(418-420)ctC>ctG p.L140L NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 140 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 AGAAGAGGAAGAGGAAGGCAT 0.562000 3 47 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170007446 170007446 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:170007446C>T ENST00000367765.1 - 5 1883 c.382G>A c.(382-384)Gaa>Aaa p.E128K KIFAP3_ENST00000361580.2_Missense_Mutation_p.E168K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E90K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E124K|KIFAP3_ENST00000490550.1_5'UTR NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 168 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AATAGTAGTTCTTCCAAGTTA 0.303000 12 107 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60581493 60581493 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:60581493G>A ENST00000406854.1 + 3 1319 c.765G>A c.(763-765)ctG>ctA p.L255L PCNXL4_ENST00000404681.2_Silent_p.L255L|PCNXL4_ENST00000406949.1_Silent_p.L21L|PCNXL4_ENST00000317623.4_Silent_p.L21L pecanex-like 4 (Drosophila) TACCCTTTCTGTGGGCACTTG 0.418000 20 98 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645223 100645223 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:100645223A>G ENST00000471714.1 - 2 312 c.203T>C c.(202-204)cTg>cCg p.L68P ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.L68P|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L68P Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 68 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GCCATATCCCAGGAGAAGACC 0.458000 4 67 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39972525 39972525 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:39972525C>T ENST00000314349.4 + 2 553 c.420C>T c.(418-420)gcC>gcT p.A140A TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000607714.1_Silent_p.A37A NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 37 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AACCGCAGGCCGCAGAGATCG 0.607000 5 78 0 0 1 0 0 POMK 84197 broad.mit.edu 37 8 42977441 42977441 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:42977441T>C ENST00000331373.5 + 5 729 c.474T>C c.(472-474)agT>agC p.S158S NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 protein-O-mannose kinase 158 GTTCCTTGAGTAACCTGGAAG 0.453000 4 65 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31711653 31711653 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:31711653G>A ENST00000320027.5 - 18 2723 c.2379C>T c.(2377-2379)aaC>aaT p.N793N HSPH1_ENST00000445273.2_Silent_p.N795N|HSPH1_ENST00000429785.2_Silent_p.N612N|HSPH1_ENST00000380405.4_Silent_p.N749N|HSPH1_ENST00000380406.5_Silent_p.N752N NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 793 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CACATGTGTTGTTCAATTCCT 0.358000 4 77 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918094 26918094 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:26918094C>G ENST00000539517.2 - 5 912 c.595G>C c.(595-597)Gag>Cag p.E199Q NOVA1_ENST00000465357.2_Missense_Mutation_p.E175Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.E77Q NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 202 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CCTGACTGCTCCATTACAGCC 0.448000 5 128 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111955378 111955378 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:111955378G>C ENST00000218789.5 + 21 2533 c.2036G>C c.(2035-2037)aGa>aCa p.R679T ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R705T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R620T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R695T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R620T Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 452 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GAAGAACAGAGAGCCCGCAAA 0.458000 3 53 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723958 7723958 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:7723958G>C ENST00000303635.7 + 9 1558 c.1351G>C c.(1351-1353)Gag>Cag p.E451Q CAMTA1_ENST00000439411.2_Missense_Mutation_p.E451Q NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGGCAGCTCGGAGAGCCTGTC 0.622000 T WWTR1 epitheliod hemangioendothelioma 4 77 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163130334 163130334 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:163130334G>A ENST00000263642.2 - 12 2820 c.2425C>T c.(2425-2427)Ctc>Ttc p.L809F NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 809 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TTGGTGACGAGACCATAACGG 0.338000 5 101 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14364830 14364830 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:14364830G>A ENST00000344204.4 + 15 2683 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K TRIO_ENST00000537187.1_Missense_Mutation_p.E887K|TRIO_ENST00000509967.2_Missense_Mutation_p.E838K NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 887 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTTTCTTCATGAAAAACAGCA 0.527000 OREG0016458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 106 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19701569 19701569 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr21:19701569A>T ENST00000284885.3 - 15 1730 c.1697T>A c.(1696-1698)cTt>cAt p.L566H NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 566 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTGAAAATGAAGTTGTATATT 0.308000 5 53 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627570 43627570 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:43627570C>T ENST00000332857.6 - 4 1145 c.1117G>A c.(1117-1119)Gag>Aag p.E373K NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GTGTCCTGCTCAGCATCCAAT 0.443000 18 297 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203383646 203383646 + Silent SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:203383646C>A ENST00000374580.4 + 6 1262 c.723C>A c.(721-723)atC>atA p.I241I BMPR2_ENST00000374574.2_Silent_p.I241I NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 241 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 AGAATTTTATCAACGAAAAGA 0.433000 4 139 0.014758 0.0149095 1 1 0 ING3 54556 broad.mit.edu 37 7 120607594 120607594 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:120607594A>T ENST00000315870.5 + 7 596 c.448A>T c.(448-450)Aat>Tat p.N150Y ING3_ENST00000431467.1_Missense_Mutation_p.N135Y NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 150 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) AAGGAAATATAATCCAACTTC 0.303000 9 106 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323771 41323771 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:41323771A>T ENST00000551295.2 + 7 787 c.670A>T c.(670-672)Agc>Tgc p.S224C CNTN1_ENST00000547849.1_Missense_Mutation_p.S224C|CNTN1_ENST00000360099.3_Missense_Mutation_p.S224C|CNTN1_ENST00000348761.2_Missense_Mutation_p.S213C|CNTN1_ENST00000547702.1_Missense_Mutation_p.S224C|CNTN1_ENST00000347616.1_Missense_Mutation_p.S224C NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 224 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGCGTGTTCAGCAAATTCAT 0.378000 6 245 0 0 1 0 0 SNRNP70 6625 broad.mit.edu 37 19 49604707 49604707 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:49604707G>T ENST00000221448.5 + 7 650 c.454G>T c.(454-456)Gaa>Taa p.E152* SNRNP70_ENST00000598441.1_Nonsense_Mutation_p.E152* NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 152 RRM. nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 CATCGAGTACGAACACGAGCG 0.612000 4 56 0.150653 0.15096 1 1 0 OR2H1 26716 broad.mit.edu 37 6 29430094 29430094 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:29430094T>A ENST00000377136.1 + 4 1013 c.548T>A c.(547-549)aTt>aAt p.I183N OR2H1_ENST00000442615.1_Missense_Mutation_p.I183N|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Missense_Mutation_p.I183N|OR2H1_ENST00000396792.2_Missense_Mutation_p.I183N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I183N Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CCATCTCTGATTCGACTCTCC 0.498000 8 198 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83851730 83851730 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:83851730G>A ENST00000349129.2 + 24 5766 c.5506G>A c.(5506-5508)Gaa>Aaa p.E1836K DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1817K|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1827K NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1836 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGTGTGGAATGAAAGAAGACA 0.368000 12 220 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860886 59860886 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:59860886T>C ENST00000278888.3 + 5 494 c.392T>C c.(391-393)cTg>cCg p.L131P NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 131 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AGAGGAAGCCTGGGAGCAAAC 0.493000 5 105 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416076 5416076 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:5416076T>C ENST00000341928.2 - 13 2148 c.1808A>G c.(1807-1809)gAt>gGt p.D603G EPB41L3_ENST00000342933.3_Missense_Mutation_p.D603G|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 603 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GAGGTATCCATCATCATCTAG 0.547000 5 79 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140255359 140255359 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:140255359G>A ENST00000296543.5 + 2 409 c.86G>A c.(85-87)gGa>gAa p.G29E NAA15_ENST00000398947.1_Missense_Mutation_p.G29E NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 29 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TATAGAAATGGATTGAAATTC 0.318000 7 111 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62338505 62338505 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:62338505G>C ENST00000378019.3 - 5 694 c.604C>G c.(604-606)Ctg>Gtg p.L202V EEF1G_ENST00000329251.4_Missense_Mutation_p.L152V|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 152 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCGCCCACCAGAAAAGTCCTC 0.478000 5 137 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124141359 124141359 + Nonsense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:124141359A>T ENST00000378080.2 + 14 2055 c.1852A>T c.(1852-1854)Aag>Tag p.K618* TBC1D31_ENST00000522420.1_Missense_Mutation_p.E619V|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E724V|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E724V|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E601V|TBC1D31_ENST00000287380.1_Missense_Mutation_p.E724V|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E278V TBC1 domain family, member 31 GTTGAAGATGAAGCTTGGTAC 0.383000 6 93 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978247 58978247 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:58978247G>A ENST00000361050.3 - 1 2177 c.2092C>T c.(2092-2094)Cca>Tca p.P698S NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 698 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GCAGTGCCTGGAACCAAACTC 0.507000 8 108 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310962 178310962 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:178310962C>G ENST00000322434.3 + 5 1735 c.1509C>G c.(1507-1509)ttC>ttG p.F503L ZNF354B_ENST00000522714.1_3'UTR NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAAAACATTCAGGTGTAACT 0.413000 5 119 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1513857 1513857 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:1513857C>T ENST00000389470.4 - 42 6387 c.6388G>A c.(6388-6390)Gag>Aag p.E2130K INTS1_ENST00000404767.3_Missense_Mutation_p.E1926K Q8N201 INT1_HUMAN integrator complex subunit 1 1926 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCCTGGTGCTCGCTGCGGAAC 0.677000 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 28 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161600164 161600164 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:161600164G>A ENST00000294800.3 - 2 328 c.55C>T c.(55-57)Cgg>Tgg p.R19W FCGR3B_ENST00000367964.2_Missense_Mutation_p.R19W|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R19W|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R55W NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 19 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) TCACCAGTCCGCATGCCAGCT 0.438000 4 45 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407523 1407523 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:1407523T>C ENST00000381524.3 + 5 517 c.331T>C c.(331-333)Tat>Cat p.Y111H CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y111H P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 111 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GAAACTGCTTTATCCAAATTC 0.463000 24 318 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094309 77094309 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:77094309G>A ENST00000328299.3 + 5 884 c.736G>A c.(736-738)Gaa>Aaa p.E246K NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 246 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 ttctAGGACAGAAGGGTATAG 0.358000 3 28 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8633504 8633504 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:8633504G>A ENST00000293845.3 - 7 1121 c.895C>T c.(895-897)Cgg>Tgg p.R299W CCDC42_ENST00000539522.2_Missense_Mutation_p.R225W NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 299 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 ATGTCCGACCGGTCTTGGATA 0.537000 3 55 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13639909 13639909 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:13639909G>C ENST00000011619.3 - 9 1469 c.1411C>G c.(1411-1413)Caa>Gaa p.Q471E RANBP9_ENST00000539980.1_Missense_Mutation_p.Q242E NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 471 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TAACTGTCTTGAGACTTTGGA 0.418000 21 73 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43535728 43535728 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:43535728G>A ENST00000430334.3 - 6 1519 c.1386C>T c.(1384-1386)caC>caT p.H462H AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.H373H NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 462 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) AAGCTATTGGGTGGTCTGAAG 0.527000 4 69 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160914931 160914931 + Nonstop_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:160914931C>G ENST00000368029.3 - 8 1034 c.977G>C c.(976-978)tGa>tCa p.*326S ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 0 signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCTCTGTCTCATCTATAGAA 0.517000 8 72 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794836 237794836 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:237794836T>A ENST00000366574.2 + 42 6867 c.6550T>A c.(6550-6552)Tcc>Acc p.S2184T RYR2_ENST00000360064.6_Missense_Mutation_p.S2182T|RYR2_ENST00000542537.1_Missense_Mutation_p.S2168T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2184 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGTGGAGAGTCCAAGGTAAC 0.393000 3 24 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20079084 20079084 + Missense_Mutation SNP C C A rs149336675 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:20079084C>A ENST00000351989.3 + 6 1862 c.1433C>A c.(1432-1434)tCc>tAc p.S478Y DGCR8_ENST00000407755.1_Missense_Mutation_p.S478Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.S478Y NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 478 Necessary for heme-binding and pri-miRNA processing. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CAGGCGGAGTCCGAGAGGCCC 0.473000 15 277 5.35267e-07 5.7375e-07 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324049 31324049 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:31324049G>A ENST00000269197.5 + 12 4237 c.4237G>A c.(4237-4239)Gtc>Atc p.V1413I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACACCCGACCGTCGCAATGTT 0.488000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 190 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89462396 89462396 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:89462396T>C ENST00000336596.2 + 10 2093 c.1868T>C c.(1867-1869)aTt>aCt p.I623T EPHA3_ENST00000494014.1_Missense_Mutation_p.I623T NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 623 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AACATATCCATTGATAAAGTT 0.433000 TSP Lung(6;0.00050) 10 180 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57865120 57865120 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:57865120G>A ENST00000391705.3 + 3 345 c.61G>A c.(61-63)Gtg>Atg p.V21M ZNF304_ENST00000443917.2_Missense_Mutation_p.V21M|ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000282286.5_Missense_Mutation_p.V21M NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GGATGTGTTCGTGTACTTCTC 0.532000 4 74 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687083 37687083 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:37687083C>T ENST00000447079.4 + 14 4020 c.3987C>T c.(3985-3987)tcC>tcT p.S1329S CDK12_ENST00000430627.2_Silent_p.S1320S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1329 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGGAGTACTCCACCCGACCCC 0.557000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 92 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31133898 31133898 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:31133898C>G ENST00000452305.1 - 9 3012 c.2449G>C c.(2449-2451)Gag>Cag p.E817Q ZNF438_ENST00000442986.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817Q|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E827Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391Q|ZNF438_ENST00000436087.2_Missense_Mutation_p.E827Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817Q NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E827K(1)|p.E827Q(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCTCATTTCTCAGCTTCACTG 0.512000 9 190 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552080 100552080 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:100552080C>G ENST00000319509.7 + 1 831 c.831C>G c.(829-831)tcC>tcG p.S277S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ATGTGGGCTCCGCTTCTATCA 0.473000 10 440 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193117044 193117044 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:193117044A>G ENST00000367435.3 + 8 961 c.777A>G c.(775-777)agA>agG p.R259R NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 259 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TAAAAGCCAGAGAAGAAGGGC 0.353000 3 37 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458386 155458386 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:155458386T>A ENST00000461783.3 + 7 2543 c.1270T>A c.(1270-1272)Tcc>Acc p.S424T TIAM2_ENST00000456144.1_Missense_Mutation_p.S424T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.S424T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S424T|TIAM2_ENST00000360366.4_Missense_Mutation_p.S424T Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 424 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCAGGGATCCTCCCAGGCATC 0.542000 6 91 0 0 1 0 0 HEY1 23462 broad.mit.edu 37 8 80679518 80679518 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:80679518G>A ENST00000337919.5 - 2 294 c.101C>T c.(100-102)tCg>tTg p.S34L HEY1_ENST00000354724.3_Missense_Mutation_p.S34L NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 34 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) ACCTAGAGCCGAACTCAAGTT 0.453000 T NCOA2 mesenchymal chondrosarcoma 14 211 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20200324 20200324 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:20200324C>T ENST00000395530.2 + 11 2956 c.2748C>T c.(2746-2748)ttC>ttT p.F916F AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Silent_p.F997F|SPECC1_ENST00000261503.5_Silent_p.F997F|SPECC1_ENST00000536879.1_Silent_p.F337F NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 997 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GCCTGGCCTTCTGTGCTCTGC 0.498000 5 39 0 0 1 0 0 RNF167 26001 broad.mit.edu 37 17 4848226 4848226 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:4848226C>A ENST00000262482.6 + 10 1624 c.968C>A c.(967-969)tCc>tAc p.S323Y RNF167_ENST00000575111.1_Missense_Mutation_p.S323Y|RNF167_ENST00000571816.1_Missense_Mutation_p.S323Y|RNF167_ENST00000572430.1_Missense_Mutation_p.S323Y|RNF167_ENST00000576229.1_Missense_Mutation_p.S288Y NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 323 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 TCCTTTGGTTCCTTAGCCCCA 0.577000 9 174 1.58986e-06 1.6931e-06 1 1 0 ZNF638 27332 broad.mit.edu 37 2 71592810 71592810 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:71592810G>A ENST00000409544.1 + 6 2599 c.1969G>A c.(1969-1971)Gat>Aat p.D657N ZNF638_ENST00000264447.4_Missense_Mutation_p.D657N|ZNF638_ENST00000355812.3_Missense_Mutation_p.D657N|ZNF638_ENST00000377802.2_Missense_Mutation_p.D657N|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 657 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACAGGTGTCTGATAAAGCTGT 0.368000 6 56 0 0 1 0 0 LOC283683 283683 broad.mit.edu 37 15 23108867 23108867 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:23108867A>G ENST00000557922.1 - 0 262 NR_040057.1 TCTTTGTTCCACTTGGTTCGA 0.403000 4 69 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136396651 136396651 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:136396651G>T ENST00000264160.4 + 14 1548 c.1178G>T c.(1177-1179)aGt>aTt p.S393I R3HDM1_ENST00000409478.1_Missense_Mutation_p.S349I|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S337I|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S393I|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S349I|R3HDM1_ENST00000443537.2_3'UTR NM_001282798.1|NM_015361.2 NP_001269727.1|NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 393 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) AGAGGTGATAGTTCTGGAAGC 0.433000 5 121 0.00116845 0.00120016 1 1 0 SATB1 6304 broad.mit.edu 37 3 18390764 18390764 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:18390764C>T ENST00000338745.6 - 11 3924 c.2190G>A c.(2188-2190)gaG>gaA p.E730E TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.E730E|SATB1_ENST00000417717.2_Silent_p.E762E NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 730 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTTGGACACTCTCTTCCAAAT 0.408000 28 237 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140584 56140584 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:56140584A>G ENST00000319441.4 + 10 1757 c.1593A>G c.(1591-1593)ggA>ggG p.G531G PCK1_ENST00000543666.1_Silent_p.G214G NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 531 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CAGGCTTTGGAGAGAACTCCA 0.557000 9 51 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24916415 24916415 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:24916415C>T ENST00000413389.2 + 7 2241 c.648C>T c.(646-648)tgC>tgT p.C216C UPB1_ENST00000326010.5_Silent_p.C284C|UPB1_ENST00000498140.1_3'UTR Q9UBR1 BUP1_HUMAN ureidopropionase, beta 284 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCTTCACCTGCGCCATCAATC 0.612000 6 45 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27056181 27056181 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:27056181C>T ENST00000324856.7 + 2 1548 c.1177C>T c.(1177-1179)Cag>Tag p.Q393* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 393 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q393*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGAGACCTCAGCCATATGG 0.527000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 117 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79650642 79650642 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:79650642T>A ENST00000275034.4 - 40 5401 c.5234A>T c.(5233-5235)aAg>aTg p.K1745M PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1745 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ATCATCTATCTTTTTTCGGTT 0.413000 13 270 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158534303 158534303 + Silent SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:158534303T>A ENST00000251527.5 - 17 2225 c.2160A>T c.(2158-2160)tcA>tcT p.S720S ESYT2_ENST00000435514.2_Silent_p.S155S NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 748 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GCTCCTTGACTGAGATGTGGC 0.647000 6 59 0 0 1 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697544 17697544 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:17697544A>G ENST00000399080.2 - 1 2162 c.2139T>C c.(2137-2139)tgT>tgC p.C713C NM_001099218.2 NP_001092688.1 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 713 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTTGTTGAGGACAACTCATAT 0.323000 7 96 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367545 58367545 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:58367545A>T ENST00000339656.5 + 2 289 c.107A>T c.(106-108)cAg>cTg p.Q36L ZNF814_ENST00000597832.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36L|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35L|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) AGTGAGGCTCAGAGGTGCTTG 0.493000 12 109 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113775272 113775272 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:113775272C>G ENST00000295878.3 - 1 188 c.42G>C c.(40-42)agG>agC p.R14S KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 14 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TCAGCCCCATCCTTTTCTTTG 0.607000 18 182 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53615408 53615408 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:53615408C>T ENST00000342160.3 - 36 5005 c.4548G>A c.(4546-4548)caG>caA p.Q1516Q HUWE1_ENST00000218328.8_Silent_p.Q1516Q|HUWE1_ENST00000262854.6_Silent_p.Q1516Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1516 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTGTGGCCATCTGACTTATCC 0.438000 4 20 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65197273 65197273 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:65197273C>G ENST00000358691.5 - 7 567 c.401G>C c.(400-402)aGa>aCa p.R134T HELZ_ENST00000580168.1_Missense_Mutation_p.R134T|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGTTTTTAGTCTTGTCAAATC 0.338000 OREG0024677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 130 0 0 1 0 0 HINT2 84681 broad.mit.edu 37 9 35813690 35813690 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:35813690C>T ENST00000259667.5 - 2 214 c.173G>A c.(172-174)cGg>cAg p.R58Q HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 58 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GTCCAGGATCCGGGAGAAGAT 0.572000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 28 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127254980 127254980 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:127254980C>T ENST00000341640.2 - 2 495 c.290G>A c.(289-291)cGc>cAc p.R97H PAX4_ENST00000463946.1_Missense_Mutation_p.R95H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000378740.2_Missense_Mutation_p.R97H NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 105 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 ACAAAGCTGGCGTTGGATTTC 0.592000 7 71 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209385 53209385 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:53209385A>C ENST00000543227.1 - 6 1197 c.923T>G c.(922-924)cTt>cGt p.L308R ZNF611_ENST00000319783.1_Missense_Mutation_p.L308R|ZNF611_ENST00000602162.1_Missense_Mutation_p.L239R|ZNF611_ENST00000540744.1_Missense_Mutation_p.L308R|ZNF611_ENST00000595798.1_Missense_Mutation_p.L239R|ZNF611_ENST00000453741.2_Missense_Mutation_p.L239R NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCCAGTATGAAGTCTACGATG 0.408000 7 230 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667250 100667250 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:100667250T>C ENST00000375119.3 - 5 1167 c.1091A>G c.(1090-1092)tAt>tGt p.Y364C NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 364 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) TGACTGAAAATATTTAAATGA 0.443000 12 75 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121658028 121658028 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:121658028C>G ENST00000369075.3 + 2 325 c.253C>G c.(253-255)Cag>Gag p.Q85E SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 85 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTACTTCTCTCAGGTATCAAG 0.468000 16 148 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25349873 25349873 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:25349873G>A ENST00000546682.1 + 0 2343 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 TCTGTGAACTGAGGTCAAGCA 0.453000 6 63 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24108426 24108426 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:24108426G>A ENST00000250383.6 + 3 655 c.179G>A c.(178-180)gGg>gAg p.G60E DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.G60E NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 38 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GCCCGGGACGGGGCCCACGTG 0.647000 32 147 0 0 1 0 0 SNHG7 84973 broad.mit.edu 37 9 139620605 139620605 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:139620605G>A ENST00000414282.1 - 0 451 SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000416970.1_RNA CCCGAGCACTGAGTGTAGAAA 0.542000 12 85 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109617198 109617198 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:109617198T>C ENST00000356711.2 + 20 2377 c.2251T>C c.(2251-2253)Ttt>Ctt p.F751L MYO16_ENST00000457511.2_Missense_Mutation_p.F263L|MYO16_ENST00000357550.2_Missense_Mutation_p.F751L|MYO16_ENST00000251041.5_Missense_Mutation_p.F751L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 751 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTTGTTTAGCTTTTTGGTGAA 0.398000 15 134 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532951 42532951 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:42532951G>A ENST00000282030.5 + 4 3942 c.3646G>A c.(3646-3648)Gaa>Aaa p.E1216K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1216 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCAGCACAGCGAAGCCGGCCA 0.542000 Schinzel-Giedion syndrome 7 68 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27059368 27059368 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:27059368G>T ENST00000261191.7 - 16 2484 c.1948C>A c.(1948-1950)Cca>Aca p.P650T ASUN_ENST00000539625.1_Missense_Mutation_p.P549T NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 650 cell division|mitosis|regulation of mitotic cell cycle protein binding AACGACACTGGCCCTAGTGTT 0.318000 5 137 3.59834e-05 3.7748e-05 1 1 0 YWHAQ 10971 broad.mit.edu 37 2 9731542 9731542 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:9731542C>T ENST00000381844.4 - 2 560 c.397G>A c.(397-399)Gcg>Acg p.A133T YWHAQ_ENST00000238081.3_Missense_Mutation_p.A133T|YWHAQ_ENST00000474715.1_5'UTR P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 133 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) TCACCACACGCAACTTCAGCA 0.348000 8 94 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65860683 65860683 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:65860683A>G ENST00000395325.3 + 13 1992 c.1835A>G c.(1834-1836)cAg>cGg p.Q612R DNAJC6_ENST00000371069.4_Missense_Mutation_p.Q669R|DNAJC6_ENST00000263441.7_Missense_Mutation_p.Q599R NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 612 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CCCTTTCTCCAGCCAACAAGA 0.438000 13 213 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968034 4968034 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrY:4968034T>A ENST00000333703.4 + 5 2895 c.2382T>A c.(2380-2382)aaT>aaA p.N794K PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805K NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 805 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TGTTCGTGAATGAGTCAGTGA 0.423000 11 68 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47931385 47931385 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr21:47931385G>A ENST00000318711.7 + 8 1146 c.963G>A c.(961-963)ctG>ctA p.L321L DIP2A_ENST00000466639.1_Silent_p.L277L|DIP2A_ENST00000417564.2_Silent_p.L320L|DIP2A_ENST00000457905.3_Silent_p.L320L|DIP2A_ENST00000427143.2_Silent_p.L256L|DIP2A_ENST00000400274.1_Silent_p.L316L|DIP2A_ENST00000435722.3_Silent_p.L320L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 320 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CGAGTGTGCTGAGAGGGGAGC 0.552000 4 32 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146561 48146561 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:48146561G>A ENST00000418331.2 + 6 1268 c.916G>A c.(916-918)Gcc>Acc p.A306T PTPRJ_ENST00000440289.2_Missense_Mutation_p.A306T NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 306 Fibronectin type-III 3. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GAGCCCCACCGCCCCTGTGCA 0.587000 20 233 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:44664045C>T ENST00000222673.5 + 2 145 c.103C>T c.(103-105)Caa>Taa p.Q35* OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35* NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.Q35K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468000 8 220 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302638 161302638 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:161302638A>C ENST00000428797.2 + 7 904 c.549A>C c.(547-549)aaA>aaC p.K183N GABRA1_ENST00000437025.2_Missense_Mutation_p.K183N|GABRA1_ENST00000444819.1_Missense_Mutation_p.K183N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K183N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K183N|GABRA1_ENST00000393943.4_Missense_Mutation_p.K183N NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 183 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCCCACTAAAATTTGGAAGTT 0.398000 7 107 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75387378 75387378 + Missense_Mutation SNP G G A rs147147941 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:75387378G>A ENST00000297784.5 + 13 1331 c.791G>A c.(790-792)cGa>cAa p.R264Q TMC1_ENST00000396237.3_Missense_Mutation_p.R264Q|TMC1_ENST00000340019.3_Missense_Mutation_p.R264Q NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 264 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GACAATAAACGAACAATTGGA 0.408000 32 216 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54338863 54338863 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:54338863G>A ENST00000243056.3 + 2 972 c.816G>A c.(814-816)ctG>ctA p.L272L NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 272 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 AGGTGCAGCTGAAGGAGCTAG 0.612000 T NUP98 AML 12 137 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73462856 73462856 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:73462856G>A ENST00000252034.7 + 15 1168 c.769G>A c.(769-771)Gca>Aca p.A257T ELN_ENST00000380584.4_Missense_Mutation_p.A243T|ELN_ENST00000380575.4_Missense_Mutation_p.A247T|ELN_ENST00000358929.4_Missense_Mutation_p.A257T|ELN_ENST00000320399.6_Missense_Mutation_p.A257T|ELN_ENST00000445912.1_Missense_Mutation_p.A257T|ELN_ENST00000380562.4_Missense_Mutation_p.A257T|ELN_ENST00000320492.7_Missense_Mutation_p.A221T|ELN_ENST00000380576.5_Missense_Mutation_p.A257T|ELN_ENST00000414324.1_Missense_Mutation_p.A252T|ELN_ENST00000429192.1_Missense_Mutation_p.A262T|ELN_ENST00000458204.1_Missense_Mutation_p.A247T|ELN_ENST00000357036.5_Missense_Mutation_p.A262T|ELN_ENST00000380553.4_Missense_Mutation_p.A140T NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 257 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) Ggcagcagcagcagcggcagc 0.612000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 8 115 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155188254 155188254 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:155188254G>A ENST00000486869.1 - 0 112 NR_002188.2 TACCCTACCCGAAGGCTTGGG 0.552000 9 125 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133378500 133378500 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:133378500C>T ENST00000204726.3 - 8 2211 c.1653G>A c.(1651-1653)caG>caA p.Q551Q GOLGA3_ENST00000545875.1_Silent_p.Q551Q|GOLGA3_ENST00000456883.2_Silent_p.Q551Q|GOLGA3_ENST00000450791.2_Silent_p.Q551Q|GOLGA3_ENST00000537452.1_Silent_p.Q551Q NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 551 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TCCGCTCCAGCTGCACCTGCT 0.652000 6 63 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967685 21967685 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:21967685C>T ENST00000298717.4 - 8 1554 c.1403G>A c.(1402-1404)cGg>cAg p.R468Q NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 468 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ACGGCCTGTCCGAATGATGCG 0.448000 17 163 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103176 168103176 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:168103176G>A ENST00000409195.1 + 9 5363 c.5274G>A c.(5272-5274)ctG>ctA p.L1758L XIRP2_ENST00000295237.9_Silent_p.L1758L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1536L NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1583 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 TGGATTATCTGAAACAACTCC 0.378000 4 65 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153296 5153296 + Missense_Mutation SNP C C T rs142969856 byFrequency TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:5153296C>T ENST00000307388.1 - 1 576 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E193K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CGGATATCTTCAGTAGCCAGC 0.403000 7 126 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122301 39122301 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:39122301C>T ENST00000216044.5 + 8 1490 c.1257C>T c.(1255-1257)ggC>ggT p.G419G GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 419 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CACTGAGAGGCCTGATCAAGC 0.582000 4 42 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35656390 35656390 + Silent SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:35656390T>A ENST00000357214.5 - 3 1322 c.1224A>T c.(1222-1224)ggA>ggT p.G408G NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 408 RRM 2. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CTGTAGATCTTCCACGATCAT 0.413000 T TFE3 papillary renal cell 5 113 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115815870 115815870 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:115815870C>T ENST00000343348.6 - 12 1985 c.1198G>A c.(1198-1200)Gag>Aag p.E400K CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.E400K|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA NM_020796.3 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 400 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGCACTGCCTCATCCATGAGC 0.498000 5 103 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34770228 34770228 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:34770228C>G ENST00000338074.2 + 6 686 c.525C>G c.(523-525)ttC>ttG p.F175L EPB41L1_ENST00000441639.1_Missense_Mutation_p.F113L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.F78L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F113L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F175L|EPB41L1_ENST00000373946.3_Missense_Mutation_p.F144L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 175 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CAGTCAAGTTCTACCCGCCTG 0.572000 7 105 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457692 45457692 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:45457692G>C ENST00000548424.1 + 0 448 TATGGACTCTGAGCCACTCTC 0.483000 6 79 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174794 63174794 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:63174794G>T ENST00000322893.7 - 11 2667 c.2399C>A c.(2398-2400)cCa>cAa p.P800Q KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 800 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATTCTTATTGGGCTGTTGAC 0.438000 8 187 0.000157383 0.000163705 1 1 0 VGLL2 245806 broad.mit.edu 37 6 117589356 117589356 + Nonsense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:117589356T>A ENST00000326274.5 + 2 283 c.93T>A c.(91-93)taT>taA p.Y31* VGLL2_ENST00000352536.3_Nonsense_Mutation_p.Y31* NM_182645.3 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 31 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) AACTAGCCTATTATTCCAAAA 0.473000 12 293 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43173108 43173108 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:43173108C>T ENST00000252050.4 + 24 4824 c.4740C>T c.(4738-4740)ccC>ccT p.P1580P CUL9_ENST00000354495.3_Silent_p.P1470P|CUL9_ENST00000372647.2_Silent_p.P1580P NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1580 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACCTGGAACCCATTATGGTCC 0.547000 13 250 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37037818 37037818 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:37037818G>T ENST00000334116.7 - 6 1937 c.1327C>A c.(1327-1329)Cat>Aat p.H443N ZNF529_ENST00000591340.1_Missense_Mutation_p.H548N NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) CAAGTAAGATGCCCAACAACA 0.343000 5 70 1.23904e-05 1.30537e-05 1 1 0 CDH3 1001 broad.mit.edu 37 16 68712041 68712041 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:68712041G>C ENST00000264012.4 + 4 795 c.251G>C c.(250-252)aGa>aCa p.R84T CDH3_ENST00000581171.1_Missense_Mutation_p.R29T|CDH3_ENST00000429102.2_Missense_Mutation_p.R84T NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 84 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTGCAGGAAAGAAGGTCACTG 0.458000 4 46 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117201 47117201 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:47117201C>G ENST00000562435.1 - 9 1893 c.1509G>C c.(1507-1509)gaG>gaC p.E503D NETO2_ENST00000303155.5_Missense_Mutation_p.E496D NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 503 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CACAGGGAATCTCCTCCATTA 0.428000 HNSCC(25;0.065) 5 130 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141532 29141532 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:29141532G>A ENST00000377167.2 + 1 222 c.120G>A c.(118-120)ctG>ctA p.L40L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGATGACACTGACAGGAAACC 0.423000 23 185 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37474713 37474713 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:37474713C>G ENST00000002125.4 + 9 1091 c.1051C>G c.(1051-1053)Ctg>Gtg p.L351V NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L253V NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 AGTAGCCTCTCTGGGCCCAAT 0.383000 5 80 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405061 89405061 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:89405061A>G ENST00000532352.1 + 0 1001 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CTAGACAGATATGTCATTCTG 0.413000 4 158 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164758786 164758786 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:164758786T>A ENST00000264382.3 - 18 2163 c.2101A>T c.(2101-2103)Act>Tct p.T701S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 701 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAAACAGAGTGTAGAGGAAG 0.358000 HNSCC(35;0.089) 8 176 0 0 1 0 0 RBM4B 83759 broad.mit.edu 37 11 66436698 66436698 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:66436698C>G ENST00000525754.1 - 2 1145 c.477G>C c.(475-477)caG>caC p.Q159H RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q159H Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 159 circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 AGCAGCCACTCTGGTCTCCCA 0.498000 3 85 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117878849 117878849 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:117878849G>A ENST00000297338.2 - 2 407 c.120C>T c.(118-120)agC>agT p.S40S RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 40 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TACTCTCCACGCTGCTCTCTA 0.388000 4 102 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538057 27538057 + RNA SNP G G A rs148958496 by1000genomes TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:27538057G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TGCAGAGTCTGAACCTGGTCT 0.507000 7 208 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130341208 130341208 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:130341208C>T ENST00000373314.3 - 1 60 c.9G>A c.(7-9)tgG>tgA p.W3* NM_001035534.1 NP_001030611.1 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 0 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TACCTCCCATCCACCCCATCC 0.537000 5 201 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256547 140256547 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:140256547G>A ENST00000398631.2 + 1 1490 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGGTGGGC 0.672000 11 119 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122130285 122130285 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:122130285C>A ENST00000334010.7 - 11 2123 c.1702G>T c.(1702-1704)Gta>Tta p.V568L CADPS2_ENST00000412584.2_Missense_Mutation_p.V568L|CADPS2_ENST00000449022.2_Missense_Mutation_p.V568L|CADPS2_ENST00000313070.7_Missense_Mutation_p.V568L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 568 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 GCAAAGATTACAGTATCTCCT 0.383000 8 121 0.00307968 0.00314357 1 1 0 KCNK3 3777 broad.mit.edu 37 2 26916025 26916025 + Splice_Site SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:26916025C>T ENST00000302909.3 + 1 407 c.282C>T c.(280-282)atC>atT p.I94I NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 94 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACCACCATCGGTAACGGCT 0.751000 5 52 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99850548 99850548 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:99850548C>T ENST00000369239.5 - 11 1399 c.1195G>A c.(1195-1197)Gag>Aag p.E399K PNISR_ENST00000438806.1_Missense_Mutation_p.E399K NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 399 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TCACTCCTCTCATCTTCACTG 0.398000 5 167 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858342 9858342 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:9858342G>T ENST00000396573.2 - 14 3368 c.3059C>A c.(3058-3060)tCc>tAc p.S1020Y GRIN2A_ENST00000535259.1_Missense_Mutation_p.S863Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1020Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1020 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) CTGGCGTATGGAATCCACGGA 0.532000 10 142 0.000673444 0.000696081 1 1 0 SLC22A3 6581 broad.mit.edu 37 6 160819069 160819069 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:160819069T>C ENST00000392145.1 + 2 515 c.488T>C c.(487-489)cTc>cCc p.L163P SLC22A3_ENST00000275300.2_Missense_Mutation_p.L163P O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 163 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ATCCTGAACCTCGGCTTCCTG 0.463000 4 123 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4875528 4875528 + Splice_Site SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:4875528G>A ENST00000361571.5 - 15 3215 c.2804C>T c.(2803-2805)cCg>cTg p.P935L CAMTA2_ENST00000381311.5_Splice_Site_p.P938L|CAMTA2_ENST00000572543.1_Splice_Site_p.P941L|CAMTA2_ENST00000358183.4_Splice_Site_p.P936L|CAMTA2_ENST00000414043.3_Splice_Site_p.P959L|CAMTA2_ENST00000348066.3_Splice_Site_p.P936L NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 936 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AAGCAGTACCGGGATCACATC 0.562000 4 77 0 0 1 0 0 ZNF321P 399669 broad.mit.edu 37 19 53432648 53432648 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:53432648C>T ENST00000391777.3 - 4 331 c.210G>A c.(208-210)atG>atA p.M70I ZNF816_ENST00000549216.1_Start_Codon_SNP_p.M1I|ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000434371.2_Missense_Mutation_p.M70I endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 ACTCCTTCATCATGCATTTGG 0.348000 16 208 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107216267 107216267 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:107216267C>T ENST00000273980.5 - 4 697 c.250G>A c.(250-252)Gaa>Aaa p.E84K TBCK_ENST00000432496.2_Missense_Mutation_p.E84K|TBCK_ENST00000394706.3_Missense_Mutation_p.E84K|TBCK_ENST00000361687.4_Missense_Mutation_p.E84K|TBCK_ENST00000394708.2_Missense_Mutation_p.E84K Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GGTTTCCTTTCTCGAAGCAAG 0.378000 6 173 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55994180 55994180 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:55994180C>T ENST00000598519.1 + 3 2173 c.1620C>T c.(1618-1620)tgC>tgT p.C540C ZNF628_ENST00000391718.2_Silent_p.C536C Q5EBL2 ZN628_HUMAN zinc finger protein 628 536 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CCTACGCCTGCGGGGAGTGTG 0.687000 12 50 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49227663 49227663 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:49227663T>G ENST00000340334.7 - 3 503 c.135A>C c.(133-135)gcA>gcC p.A45A FOLH1_ENST00000256999.2_Silent_p.A60A|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.A60A|FOLH1_ENST00000533034.1_Silent_p.A45A NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 60 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CATCCAAAAATGCTTTCATAT 0.323000 5 122 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31963874 31963874 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:31963874G>C ENST00000428956.2 + 26 3457 c.3373G>C c.(3373-3375)Gac>Cac p.D1125H C4A_ENST00000498271.1_Missense_Mutation_p.D1125H NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) TCCAGTGTTAGACAGGAGCAT 0.607000 13 141 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16641726 16641726 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:16641726G>A ENST00000375592.3 - 2 404 c.188C>T c.(187-189)tCa>tTa p.S63L FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 63 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CTGATACGGTGAGAGAAAGGA 0.463000 16 85 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29095920 29095920 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:29095920T>A ENST00000544772.1 - 10 1687 c.251A>T c.(250-252)gAa>gTa p.E84V CHEK2_ENST00000402731.1_Missense_Mutation_p.E305V|CHEK2_ENST00000403642.1_Missense_Mutation_p.E214V|CHEK2_ENST00000405598.1_Missense_Mutation_p.E305V|CHEK2_ENST00000348295.3_Missense_Mutation_p.E305V|CHEK2_ENST00000382566.1_Silent_p.G284G|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.E348V|CHEK2_ENST00000404276.1_Missense_Mutation_p.E305V|CHEK2_ENST00000328354.6_Missense_Mutation_p.E305V|CHEK2_ENST00000382578.1_Missense_Mutation_p.E214V NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 305 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CTCTCCCCCTTCCATCCTGAA 0.443000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 288 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156746102 156746102 + Nonsense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:156746102A>T ENST00000470811.1 + 13 2002 c.667A>T c.(667-669)Aag>Tag p.K223* LEKR1_ENST00000356539.4_Nonsense_Mutation_p.K527* D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 108 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAACTTGAGGAAGGAAATGGA 0.373000 4 38 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56525269 56525269 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:56525269C>T ENST00000394048.5 + 6 987 c.723C>T c.(721-723)ggC>ggT p.G241G ESYT1_ENST00000541590.1_Silent_p.G241G|ESYT1_ENST00000267113.4_Silent_p.G241G NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 241 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGCTACATGGCGTTTTGCGGG 0.517000 11 291 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27002138 27002138 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:27002138A>G ENST00000314616.6 + 5 779 c.496A>G c.(496-498)Atg>Gtg p.M166V SUPT6H_ENST00000347486.4_Missense_Mutation_p.M166V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 166 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGAGGCCCCCATGGCTCCTCC 0.527000 9 79 0 0 1 0 0 APMAP 57136 broad.mit.edu 37 20 24950942 24950942 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:24950942C>G ENST00000217456.2 - 6 894 c.604G>C c.(604-606)Gat>Cat p.D202H APMAP_ENST00000447138.1_Missense_Mutation_p.D202H NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein ACTGTAAGATCATTCACAAAG 0.443000 7 174 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819769 43819769 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:43819769T>C ENST00000382031.1 + 5 6843 c.6812T>C c.(6811-6813)tTc>tCc p.F2271S MAP1A_ENST00000399453.1_Missense_Mutation_p.F2033S|MAP1A_ENST00000300231.5_Missense_Mutation_p.F2033S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2033 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACTCCAACCTTCAGCTATGCA 0.607000 9 107 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8989600 8989600 + Splice_Site SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:8989600T>A ENST00000344836.4 - 27 3018 c.e27-2 USP7_ENST00000381886.4_Splice_Site|USP7_ENST00000535863.1_Splice_Site NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCTAGCAGCCTGAACAGAGAG 0.318000 3 51 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975467 118975467 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:118975467G>A ENST00000296499.5 + 2 805 c.402G>A c.(400-402)gaG>gaA p.E134E NDST3_ENST00000433996.2_Silent_p.E134E NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 134 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TTATTTATGAGAATATTTTAA 0.348000 4 50 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823529 97823529 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:97823529C>T ENST00000297293.5 + 11 4045 c.3752C>T c.(3751-3753)tCc>tTc p.S1251F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1251 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCCAGCCACTCCGAGGGCCCG 0.612000 7 32 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866339 39866339 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:39866339C>G ENST00000314471.6 + 7 1752 c.717C>G c.(715-717)ctC>ctG p.L239L SAMD4B_ENST00000598913.1_Silent_p.L239L|SAMD4B_ENST00000596368.1_Silent_p.L239L NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 239 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCATGTCACTCATCCCTACAA 0.612000 8 301 0 0 1 0 0 CLINT1 9685 broad.mit.edu 37 5 157240233 157240233 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:157240233C>G ENST00000523094.1 - 5 506 c.301G>C c.(301-303)Gag>Cag p.E101Q CLINT1_ENST00000530742.1_Missense_Mutation_p.E101Q|CLINT1_ENST00000523908.1_Missense_Mutation_p.E119Q|CLINT1_ENST00000411809.2_Missense_Mutation_p.E119Q|CLINT1_ENST00000296951.5_Missense_Mutation_p.E101Q NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 119 ENTH. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTACCATGCTCATCTATGAGG 0.363000 9 54 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2695596 2695596 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:2695596C>T ENST00000324666.5 + 14 2565 c.2214C>T c.(2212-2214)gtC>gtT p.V738V FAM193A_ENST00000545951.1_Silent_p.V738V|FAM193A_ENST00000382839.3_Silent_p.V738V|FAM193A_ENST00000505311.1_Silent_p.V738V|FAM193A_ENST00000502458.1_Silent_p.V760V NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 738 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CTCCAAGTGTCTGCAGGTGAG 0.567000 4 74 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161444 29161444 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:29161444G>C ENST00000321990.4 + 2 723 c.345G>C c.(343-345)aaG>aaC p.K115N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 115 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAAAGAAAGAGGGTTAATT 0.323000 6 180 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30450395 30450395 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:30450395A>G ENST00000278979.3 - 6 481 c.405T>C c.(403-405)ttT>ttC p.F135F DUSP15_ENST00000398084.2_Silent_p.F35F|DUSP15_ENST00000339738.5_Silent_p.F138F|DUSP15_ENST00000486996.1_Silent_p.F35F|DUSP15_ENST00000375966.4_Silent_p.F135F|DUSP15_ENST00000398083.1_Silent_p.F35F Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 135 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGGCCCAGCCAAACTCTTCAA 0.607000 5 95 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858759 9858759 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:9858759T>G ENST00000396573.2 - 14 2951 c.2642A>C c.(2641-2643)aAg>aCg p.K881T GRIN2A_ENST00000535259.1_Missense_Mutation_p.K724T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K881T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K881T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 881 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) GTCTGGAGACTTCTTCTTTTC 0.468000 5 117 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18390769 18390769 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:18390769C>T ENST00000338745.6 - 11 3919 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E729K|SATB1_ENST00000417717.2_Missense_Mutation_p.E761K NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 729 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 ACACTCTCTTCCAAATCCTTC 0.418000 30 235 0 0 1 0 0 TMEM205 374882 broad.mit.edu 37 19 11456266 11456266 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:11456266C>G ENST00000354882.5 - 1 456 c.30G>C c.(28-30)ctG>ctC p.L10L TMEM205_ENST00000447337.1_Silent_p.L10L|TMEM205_ENST00000586956.1_Silent_p.L10L|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000587948.1_Silent_p.L10L|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000588560.1_Silent_p.L10L|TMEM205_ENST00000593256.2_Silent_p.L10L|TMEM205_ENST00000586590.1_Silent_p.L10L|CCDC159_ENST00000588790.1_Intron|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.L10L Q6UW68 TM205_HUMAN transmembrane protein 205 10 integral to membrane endometrium(1)|lung(1) 2 CCATCTTAATCAGGCCTCCTA 0.567000 4 46 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149901560 149901560 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:149901560G>C ENST00000439741.2 - 16 2146 c.1896C>G c.(1894-1896)atC>atG p.I632M MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I560M|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 632 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCCAGAGCCTGATCTGGGGTC 0.587000 4 172 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043187 71043187 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:71043187C>T ENST00000272367.2 - 4 1402 c.1326G>A c.(1324-1326)caG>caA p.Q442Q CLEC4F_ENST00000426626.1_Silent_p.Q442Q NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 442 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TCAGGCGACTCTGCTCCTGCT 0.522000 5 70 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101624450 101624450 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:101624450C>G ENST00000409318.1 - 20 3431 c.3301G>C c.(3301-3303)Gaa>Caa p.E1101Q RPL31_ENST00000409650.1_Intron|RPL31_ENST00000409028.4_Intron|RPL31_ENST00000409038.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1086Q NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1086 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 AAAATATGTTCAAGGGAGACA 0.463000 4 73 0 0 1 0 0 RPL30 6156 broad.mit.edu 37 8 99057291 99057291 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:99057291G>C ENST00000521291.1 - 2 193 c.47C>G c.(46-48)tCt>tGt p.S16C RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000523172.1_Intron|RPL30_ENST00000287038.3_Missense_Mutation_p.S16C|RPL30_ENST00000396070.2_Missense_Mutation_p.S16C P62888 RL30_HUMAN ribosomal protein L30 16 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(2)|lung(4)|skin(1) 7 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.192) TTGGAGCCTAGAGTTGATCGA 0.478000 7 321 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40843809 40843809 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:40843809A>G ENST00000254691.5 + 2 1038 c.839A>G c.(838-840)gAa>gGa p.E280G CARD6_ENST00000381677.3_Missense_Mutation_p.E280G NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 280 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAAAGTATAGAAGGTATGGAA 0.398000 4 28 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112357176 112357176 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:112357176A>T ENST00000206423.3 - 2 2530 c.1577T>A c.(1576-1578)gTg>gAg p.V526E CCDC80_ENST00000439685.2_Missense_Mutation_p.V526E NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 526 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AACATTCCCCACCTGCAGCTC 0.448000 4 65 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695907 196695907 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:196695907T>C ENST00000367429.4 + 14 2313 c.2073T>C c.(2071-2073)tgT>tgC p.C691C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 691 Sushi 12. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AGAGTACCTGTGGAGATATAC 0.343000 5 72 0 0 1 0 0 PTS 5805 broad.mit.edu 37 11 112104239 112104239 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:112104239C>T ENST00000280362.3 + 6 478 c.399C>T c.(397-399)taC>taT p.Y133Y PTS_ENST00000524931.1_Silent_p.Y65Y|PTS_ENST00000525803.1_3'UTR NM_000317.2 NP_000308.1 Q03393 PTPS_HUMAN 6-pyruvoyltetrahydropterin synthase 133 cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process mitochondrion 6-pyruvoyltetrahydropterin synthase activity|metal ion binding breast(1)|large_intestine(1) 2 all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519) TAAAAGTATACGAAACTGACA 0.333000 4 77 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21721898 21721898 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:21721898A>G ENST00000261195.2 - 5 978 c.724T>C c.(724-726)Tac>Cac p.Y242H NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 242 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.Y242N(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCATGCAGTACCGGTGGTAA 0.438000 8 109 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101717853 101717853 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:101717853C>T ENST00000318607.5 - 12 2779 c.1651G>A c.(1651-1653)Gca>Aca p.A551T PABPC1_ENST00000519004.1_Missense_Mutation_p.A506T|PABPC1_ENST00000522387.1_Missense_Mutation_p.A519T NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 551 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GGGGCAGATGCCAACATGGAA 0.423000 22 44 0 0 1 0 0 IGLV2-8 28817 broad.mit.edu 37 22 23165695 23165695 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:23165695G>A ENST00000390317.2 + 0 428 TCCAAGTCTGGCAACACGGCC 0.542000 39 299 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25144925 25144925 + Silent SNP G G A rs146639297 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr22:25144925G>A ENST00000332271.5 - 12 1814 c.1398C>T c.(1396-1398)tcC>tcT p.S466S PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.S357S|PIWIL3_ENST00000533313.1_Silent_p.S357S NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 466 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCCCGGGACGGACAAAAAAT 0.358000 8 127 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563378 156563378 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:156563378G>A ENST00000368233.3 + 5 722 c.695G>A c.(694-696)aGa>aAa p.R232K APOA1BP_ENST00000368235.3_Intron|APOA1BP_ENST00000368234.3_Intron Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 229 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGTGGGGGAGATTGGGGCCC 0.572000 8 34 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21454134 21454134 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:21454134A>T ENST00000307378.6 - 8 1379 c.659T>A c.(658-660)gTt>gAt p.V220D SLCO1A2_ENST00000458504.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V218D|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V220D NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 220 V -> I (in a colorectal cancer sample; somatic mutation). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GTCAACATAAACATTTGCACA 0.313000 15 105 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744750 54744750 + Silent SNP G G A rs140883375 by1000genomes TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:54744750G>A ENST00000440558.2 - 5 960 c.912C>T c.(910-912)tcC>tcT p.S304S LILRA6_ENST00000419410.2_Silent_p.S304S|LILRA6_ENST00000245621.5_Silent_p.S304S|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000396365.2_Silent_p.S304S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCGACCACTCGGAGGAGAGGT 0.687000 12 108 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46890667 46890667 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:46890667T>C ENST00000378623.1 - 32 4951 c.4709A>G c.(4708-4710)tAc>tGc p.Y1570C LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1570 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTCTGTCCAGTAGATCCACCT 0.483000 5 32 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:178928079G>A ENST00000263967.3 + 8 1514 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 138 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56485124 56485124 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:56485124G>C ENST00000291971.3 + 7 2712 c.2641G>C c.(2641-2643)Gat>Cat p.D881H NLRP8_ENST00000590542.1_Missense_Mutation_p.D862H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 881 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGCCTTGAAAGATGAAGGGGC 0.502000 9 165 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715925 101715925 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:101715925T>A ENST00000342239.3 - 4 1397 c.1306A>T c.(1306-1308)Agc>Tgc p.S436C DNMBP_ENST00000324109.4_Missense_Mutation_p.S436C|DNMBP-AS1_ENST00000434409.1_RNA Q6XZF7 DNMBP_HUMAN dynamin binding protein 436 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGCGGGTGGCTCCCTCCCACT 0.488000 6 136 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956521 143956521 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:143956521A>G ENST00000292427.4 - 8 1282 c.1250T>C c.(1249-1251)tTc>tCc p.F417S CYP11B1_ENST00000377675.3_Missense_Mutation_p.F488S|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 417 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGGCCTCGGGAACAAGGCGGG 0.627000 Familial Hyperaldosteronism type I 5 101 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509750 71509750 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:71509750C>G ENST00000396073.3 + 9 2888 c.2607C>G c.(2605-2607)agC>agG p.S869R ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 869 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) TTCACCTAAGCCAGAGAGGCT 0.478000 8 91 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128620040 128620040 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:128620040C>T ENST00000393245.1 - 15 2380 c.2007G>A c.(2005-2007)caG>caA p.Q669Q TNPO3_ENST00000471166.1_Silent_p.Q669Q|TNPO3_ENST00000471234.1_Silent_p.Q571Q|TNPO3_ENST00000265388.5_Silent_p.Q635Q|TNPO3_ENST00000482320.1_Silent_p.Q569Q NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 635 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 GTATGACTTTCTGACACGGAT 0.438000 6 70 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645939 70645939 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:70645939G>C ENST00000298596.6 + 3 2470 c.2387G>C c.(2386-2388)aGa>aCa p.R796T STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R796T NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 796 cytoplasm|nucleolus DNA binding p.R796I(1) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTGCTTAAAAGAAATGAATGC 0.473000 7 81 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967059 81967059 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:81967059C>G ENST00000282701.2 + 2 804 c.484C>G c.(484-486)Cag>Gag p.Q162E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 162 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GAAACACATTCAGATTGATCT 0.453000 6 121 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693510 55693510 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:55693510C>T ENST00000376350.3 - 19 3094 c.3072G>A c.(3070-3072)gtG>gtA p.V1024V PTPRH_ENST00000263434.5_Silent_p.V846V NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1024 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGTGCGACCCACGCCAGCAC 0.587000 5 90 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300307 161300307 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:161300307G>T ENST00000428797.2 + 6 795 c.440G>T c.(439-441)cGg>cTg p.R147L GABRA1_ENST00000437025.2_Missense_Mutation_p.R147L|GABRA1_ENST00000444819.1_Missense_Mutation_p.R147L|GABRA1_ENST00000023897.6_Missense_Mutation_p.R147L|GABRA1_ENST00000420560.1_Missense_Mutation_p.R147L|GABRA1_ENST00000393943.4_Missense_Mutation_p.R147L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 147 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AAACTCCTGCGGATCACAGAG 0.468000 5 40 0.000602214 0.000623767 1 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140772493 140772493 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:140772493A>T ENST00000398604.2 + 1 113 c.113A>T c.(112-114)gAg>gTg p.E38V PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCAGAAGAGACGGACAAA 0.622000 5 58 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55051509 55051509 + Splice_Site SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:55051509G>A ENST00000371316.3 + 3 325 c.243G>A c.(241-243)gcG>gcA p.A81A ACOT11_ENST00000343744.2_Splice_Site_p.A81A|ACOT11_ENST00000481208.1_Intron NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 81 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TGACACCAGCGGAGAGGCACG 0.587000 4 52 0 0 1 0 0 ITLN1 55600 broad.mit.edu 37 1 160850408 160850408 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:160850408T>C ENST00000326245.3 - 6 770 c.655A>G c.(655-657)Aca>Gca p.T219A ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 219 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TAAGATGCTGTTTTCTGGGCG 0.443000 17 275 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66460432 66460432 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:66460432C>G ENST00000404260.3 + 29 5742 c.5434C>G c.(5434-5436)Ctc>Gtc p.L1812V MAST4_ENST00000403625.2_Missense_Mutation_p.L1809V|MAST4_ENST00000261569.7_Missense_Mutation_p.L1615V|MAST4_ENST00000405643.1_Missense_Mutation_p.L1630V|MAST4_ENST00000403666.1_Missense_Mutation_p.L1620V O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1812 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGACATTGCTCTCCTGTCCGG 0.597000 10 104 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180805846 180805846 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:180805846C>G ENST00000367590.4 + 11 1693 c.1495C>G c.(1495-1497)Cac>Gac p.H499D XPR1_ENST00000367589.3_Intron NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 499 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TTACAGCACTCACAAAGGTAT 0.393000 7 135 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170884925 170884925 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:170884925T>A ENST00000436636.2 - 10 1252 c.908A>T c.(907-909)aAg>aTg p.K303M TNIK_ENST00000369326.5_Missense_Mutation_p.K303M|TNIK_ENST00000341852.6_Missense_Mutation_p.K303M|TNIK_ENST00000538048.1_Missense_Mutation_p.K303M|TNIK_ENST00000470834.1_Missense_Mutation_p.K303M|TNIK_ENST00000460047.1_Missense_Mutation_p.K303M|TNIK_ENST00000488470.1_Missense_Mutation_p.K303M|TNIK_ENST00000357327.5_Missense_Mutation_p.K303M|TNIK_ENST00000475336.1_Missense_Mutation_p.K303M|TNIK_ENST00000284483.8_Missense_Mutation_p.K303M NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 303 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AATATGGTCCTTGAGTTGAAT 0.433000 4 44 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886177 57886177 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:57886177G>A ENST00000302610.1 - 1 739 c.740C>T c.(739-741)gCt>gTt p.A247V OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) AAGGGCCACAGCAGTGATGTG 0.463000 5 72 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10102505 10102505 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:10102505C>T ENST00000380861.4 + 19 3023 c.2632C>T c.(2632-2634)Ctg>Ttg p.L878L WWC3_ENST00000454666.1_Silent_p.L878L NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 878 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGATCTCTTTCTGGAAGAAGC 0.522000 15 127 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677422 149677422 + Silent SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:149677422C>A ENST00000328668.7 - 2 1644 c.1065G>T c.(1063-1065)gtG>gtT p.V355V NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 355 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCCAGACCCACCAGGGTCG 0.652000 10 61 7.48243e-07 7.98559e-07 1 1 0 RECK 8434 broad.mit.edu 37 9 36083430 36083430 + Missense_Mutation SNP C C G rs1046658 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:36083430C>G ENST00000377966.3 + 8 1074 c.508C>G c.(508-510)Cga>Gga p.R170G RECK_ENST00000479053.1_3'UTR NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 170 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCCATTTTTCGAACAGACTC 0.408000 6 163 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39764056 39764056 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:39764056G>A ENST00000395670.3 - 2 471 c.52C>T c.(52-54)Cca>Tca p.P18S KIF21A_ENST00000544797.2_Missense_Mutation_p.P18S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P18S|KIF21A_ENST00000361418.5_Missense_Mutation_p.P18S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P18S Q7Z4S6 KI21A_HUMAN kinesin family member 21A 18 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GCAAGCTGTGGTCTTATTCTG 0.348000 5 126 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138706964 138706964 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:138706964G>C ENST00000389532.4 - 16 4549 c.4485C>G c.(4483-4485)ccC>ccG p.P1495P CAMSAP1_ENST00000409386.3_Silent_p.P1506P|CAMSAP1_ENST00000312405.6_Silent_p.P1217P|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1495 CKK. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) AATTCTTGTGGGGTTCGTTCA 0.378000 6 16 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19337520 19337520 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:19337520C>T ENST00000252575.6 + 7 1397 c.1298C>T c.(1297-1299)cCt>cTt p.P433L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AGCCCTACCCCTGGGGACCCC 0.617000 6 38 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176694604 176694604 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:176694604C>A ENST00000439151.2 + 15 5233 c.5188C>A c.(5188-5190)Cat>Aat p.H1730N NSD1_ENST00000354179.4_Missense_Mutation_p.H1461N|NSD1_ENST00000361032.4_Missense_Mutation_p.H1627N|NSD1_ENST00000347982.4_Missense_Mutation_p.H1461N NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1730 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TGCTGCTTTTCATCGTGAATG 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 178 3.59834e-05 3.7748e-05 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7667517 7667517 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:7667517G>A ENST00000572933.1 + 20 4722 c.3262G>A c.(3262-3264)Gtg>Atg p.V1088M DNAH2_ENST00000389173.2_Missense_Mutation_p.V1088M Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1088 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTTGGCCAACGTGGAGACTCA 0.557000 16 101 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394686 154394686 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:154394686A>G ENST00000435029.4 + 1 1427 c.1267A>G c.(1267-1269)Aca>Gca p.T423A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 423 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GATCATTTTGACAGAGCAAGT 0.473000 5 118 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215345383 215345383 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:215345383T>C ENST00000444842.2 + 5 830 c.680T>C c.(679-681)aTc>aCc p.I227T KCNK2_ENST00000391894.2_Missense_Mutation_p.I212T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I223T NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 227 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCAACAATCATATTTATA 0.403000 5 96 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118812031 118812031 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:118812031G>A ENST00000378204.2 - 11 2967 c.2161C>T c.(2161-2163)Cag>Tag p.Q721* NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 721 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGCCTCATCTGAGAGTGGATC 0.547000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 4 127 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047483 11047483 + RNA SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr21:11047483T>C ENST00000470054.1 - 0 771 B melanoma antigen family, member 2 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) CAACTTACTTTGCATTTCCAG 0.333000 11 282 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1635658 1635658 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:1635658G>A ENST00000409644.1 + 5 4197 c.4197G>A c.(4195-4197)gtG>gtA p.V1399V RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Silent_p.V196V|WDR81_ENST00000309182.5_Silent_p.V348V|WDR81_ENST00000545662.1_Silent_p.V30V|WDR81_ENST00000446363.1_Silent_p.V38V|WDR81_ENST00000419248.1_Silent_p.V172V NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 172 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCCTGTGTGTGAAAACCATCA 0.587000 6 93 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121434223 121434223 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:121434223T>A ENST00000275159.6 - 29 3276 c.3277A>T c.(3277-3279)Ata>Tta p.I1093L TBC1D32_ENST00000398212.2_Missense_Mutation_p.I1052L|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 GAAGATTTTATGGAAGTTTGC 0.318000 5 119 0 0 1 0 0 TMEM209 84928 broad.mit.edu 37 7 129825051 129825051 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:129825051G>C ENST00000397622.2 - 7 1054 c.932C>G c.(931-933)tCt>tGt p.S311C TMEM209_ENST00000462753.1_Missense_Mutation_p.S310C|TMEM209_ENST00000336804.8_Missense_Mutation_p.S310C|TMEM209_ENST00000473456.1_Missense_Mutation_p.S311C|RP11-775D22.3_ENST00000483283.1_RNA NM_032842.3 NP_116231.2 Q96SK2 TM209_HUMAN transmembrane protein 209 311 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 12 Melanoma(18;0.0435) GGCTTGTTTAGAGCTGAGATC 0.383000 4 63 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151139 145151139 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:145151139G>A ENST00000318911.4 + 3 512 c.439G>A c.(439-441)Gag>Aag p.E147K NM_001916.3 NP_001907 P08574 CY1_HUMAN cytochrome c-1 147 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGAAGCTAAGGAGCTGGCTGC 0.622000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 176 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325137 57325137 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:57325137T>G ENST00000326441.9 - 10 5036 c.4673A>C c.(4672-4674)cAa>cCa p.Q1558P ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1432P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1434P|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q1558P NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1558 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCATCAGCTTGATTGGCACC 0.527000 13 90 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877544 2877544 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:2877544T>G ENST00000586426.1 + 4 672 c.585T>G c.(583-585)acT>acG p.T195T ZNF556_ENST00000307635.2_Silent_p.T196T Q9HAH1 ZN556_HUMAN zinc finger protein 556 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) ATGAGAAAACTCACAGTGGAG 0.448000 6 88 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699032 49699032 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:49699032T>G ENST00000303221.5 - 6 1072 c.857A>C c.(856-858)cAa>cCa p.Q286P EMB_ENST00000508934.1_Missense_Mutation_p.Q232P|EMB_ENST00000514111.1_Missense_Mutation_p.Q236P NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 286 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CTTTTTCTTTTGTGTGTACTT 0.338000 5 97 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114751217 114751217 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:114751217C>T ENST00000334062.7 - 23 2419 c.2298G>A c.(2296-2298)tcG>tcA p.S766S RASA3_ENST00000389544.4_Silent_p.S734S NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 766 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TGACGAACGTCGAATACTCCT 0.622000 4 98 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725738 140725738 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:140725738C>T ENST00000253812.6 + 1 2138 c.2138C>T c.(2137-2139)gCg>gTg p.A713V PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTGCTGGCGCTCAGGCTG 0.682000 11 188 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141328311 141328311 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:141328311G>A ENST00000286364.3 + 22 2310 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E760K Q15283 RASA2_HUMAN RAS p21 protein activator 2 759 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.E759K(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 CAGAGAAACAGAAAGAATTTA 0.279000 9 89 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71002416 71002416 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:71002416C>T ENST00000396396.1 + 4 838 c.609C>T c.(607-609)ctC>ctT p.L203L PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Silent_p.L203L NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 203 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATCTTAACCTCCTTCGGACCA 0.438000 7 168 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371710 55371710 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:55371710A>T ENST00000302231.4 - 1 164 c.140T>A c.(139-141)aTc>aAc p.I47N NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GCTGGACTTGATGGTCACAAT 0.398000 4 48 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58275806 58275806 + Splice_Site SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:58275806C>T ENST00000300896.4 - 27 3444 c.e27-1 USP32_ENST00000592339.1_Splice_Site NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTGTCCTCATCTGTATGTACA 0.443000 9 93 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152555860 152555860 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:152555860T>C ENST00000367255.5 - 111 21073 c.20472A>G c.(20470-20472)caA>caG p.Q6824Q SYNE1_ENST00000356820.4_Silent_p.Q1348Q|SYNE1_ENST00000341594.5_Silent_p.Q6436Q|SYNE1_ENST00000423061.1_Silent_p.Q6753Q|SYNE1_ENST00000265368.4_Silent_p.Q6824Q|SYNE1_ENST00000448038.1_Silent_p.Q6753Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6824 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGTCACAGATTGCTGAGTCC 0.388000 HNSCC(10;0.0054) 11 187 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36863230 36863230 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:36863230C>G ENST00000325718.7 + 2 228 c.137C>G c.(136-138)aCg>aGg p.T46R MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.T46R NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 46 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CAGGTGCCAACGGGACCCTGG 0.612000 T MLL AL 3 54 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782178 134782178 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:134782178C>A ENST00000503143.2 - 1 860 c.621G>T c.(619-621)ttG>ttT p.L207F TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 207 Ser-rich. nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATAGTGATATCAAGTGCGAAG 0.557000 8 51 0.00307968 0.00314357 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48593987 48593987 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:48593987G>T ENST00000323776.5 + 2 424 c.262G>T c.(262-264)Gaa>Taa p.E88* MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.E51* NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 51 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGAAGAGCCTGAACCTGTTAG 0.468000 5 52 0.00116845 0.00120016 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31241670 31241670 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:31241670T>A ENST00000269197.5 + 5 446 c.446T>A c.(445-447)tTc>tAc p.F149Y NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTGTCTTCCTTCCAGCAGCAC 0.413000 4 25 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661707 153661707 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:153661707G>A ENST00000368680.3 + 17 3080 c.2608G>A c.(2608-2610)Gaa>Aaa p.E870K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 870 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGTGCAGGCCGAAGCCTTTGA 0.602000 4 120 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 35 250 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029299 37029299 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:37029299G>C ENST00000358047.3 + 1 2868 c.2816G>C c.(2815-2817)gGa>gCa p.G939A NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 939 p.G939A(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATGGGGTATGGAGCATGGTAC 0.443000 10 84 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196659332 196659332 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:196659332G>A ENST00000367429.4 + 9 1539 c.1299G>A c.(1297-1299)gaG>gaA p.E433E CFH_ENST00000359637.2_Silent_p.E369E|CFH_ENST00000439155.2_Silent_p.E433E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 433 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CATGTATGGAGAATGGCTGGT 0.433000 7 60 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93220240 93220240 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:93220240G>C ENST00000446394.1 + 3 425 c.325G>C c.(325-327)Gat>Cat p.D109H HECTD2_ENST00000371681.4_Missense_Mutation_p.D109H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D109H NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 109 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TACATCTATGGATGCATCATC 0.378000 6 172 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110125115 110125115 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:110125115A>C ENST00000369851.4 + 5 628 c.518A>C c.(517-519)gAt>gCt p.D173A NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 173 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) ACTCAGCAAGATGTTCTTCGG 0.378000 4 120 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345491 28345491 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:28345491G>A ENST00000337532.5 - 17 1745 c.1469C>T c.(1468-1470)tCa>tTa p.S490L MPP7_ENST00000540098.1_Missense_Mutation_p.S490L|MPP7_ENST00000375732.1_Missense_Mutation_p.S490L|MPP7_ENST00000375719.3_Missense_Mutation_p.S490L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 490 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ACGCTCTATTGATGGAGGCTT 0.353000 14 149 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065702 9065702 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:9065702C>T ENST00000397910.4 - 3 21947 c.21744G>A c.(21742-21744)ttG>ttA p.L7248L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7250 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 CTGTCTCCCTCAATTTAGGGC 0.493000 8 202 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429057 179429057 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:179429057C>G ENST00000589042.1 - 326 82026 c.81802G>C c.(81802-81804)Gat>Cat p.D27268H TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24700H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18395H|TTN_ENST00000591111.1_Missense_Mutation_p.D25627H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18328H|TTN_ENST00000460472.2_Missense_Mutation_p.D18203H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25627 Fibronectin type-III 98. 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) TCAATTTCATCTCTTGCAGTA 0.398000 11 95 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21541245 21541245 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:21541245C>T ENST00000298694.4 + 2 172 c.45C>T c.(43-45)gcC>gcT p.A15A ARHGEF40_ENST00000298693.3_Silent_p.A15A Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 15 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCACTCTCGCCGCCCTGTATC 0.597000 5 77 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95512827 95512827 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:95512827C>G ENST00000358780.5 - 7 948 c.636G>C c.(634-636)caG>caC p.Q212H FAM76B_ENST00000536839.1_Missense_Mutation_p.Q212H NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 212 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGTTTCATTCTGAATTGTTG 0.318000 5 115 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71211775 71211775 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:71211775G>C ENST00000457410.1 + 6 975 c.836G>C c.(835-837)aGa>aCa p.R279T ANKRD53_ENST00000360589.3_Missense_Mutation_p.R313T|ANKRD53_ENST00000441349.1_3'UTR|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_3'UTR Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 313 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 GCTGCTATCAGAAAGTGGCTC 0.572000 OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 92 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552069 178552069 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:178552069G>T ENST00000251582.7 - 19 2964 c.2863C>A c.(2863-2865)Cac>Aac p.H955N NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 955 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.H955N(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGCTTGGCGTGCACGGAGCGG 0.697000 7 183 8.12818e-05 8.4726e-05 1 1 0 DPAGT1 1798 broad.mit.edu 37 11 118968638 118968638 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:118968638G>A ENST00000409993.2 - 8 2395 c.844C>T c.(844-846)Cag>Tag p.Q282* DPAGT1_ENST00000354202.4_Nonsense_Mutation_p.Q282*|DPAGT1_ENST00000432443.2_Nonsense_Mutation_p.Q175* Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 282 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 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) TTGAACACCTGGGGCATGAAG 0.527000 7 96 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457166 110457166 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:110457166G>T ENST00000378402.5 + 38 5172 c.5068G>T c.(5068-5070)Ggt>Tgt p.G1690C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1690 IPT/TIG 9. 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) TTCTTCTGCAGGTGTAAAAGT 0.443000 HNSCC(38;0.096) 7 162 8.12818e-05 8.4726e-05 1 1 0 RAPGEF1 2889 broad.mit.edu 37 9 134501394 134501394 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:134501394G>C ENST00000372195.1 - 10 1860 c.1617C>G c.(1615-1617)gtC>gtG p.V539V RAPGEF1_ENST00000372189.3_Silent_p.V522V|RAPGEF1_ENST00000372190.3_Silent_p.V540V Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 522 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CCACAAATTCGACAGGGGCTG 0.542000 8 40 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93285476 93285476 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:93285476G>C ENST00000322349.8 - 2 310 c.46C>G c.(46-48)Caa>Gaa p.Q16E EEA1_ENST00000547833.1_5'UTR NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 16 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TCAGAACCTTGAGAGCCAACT 0.353000 5 133 0 0 1 0 0 PSMB10 5699 broad.mit.edu 37 16 67970132 67970132 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:67970132G>A ENST00000358514.4 - 3 565 c.228C>T c.(226-228)atC>atT p.I76I NM_002801.3 NP_002792.1 P40306 PSB10_HUMAN proteasome (prosome, macropain) subunit, beta type, 10 76 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|humoral immune response|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 cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) TTTTGGGGGCGATGAAGTGGA 0.627000 14 146 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90642171 90642171 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:90642171C>T ENST00000257749.4 - 9 3189 c.2482G>A c.(2482-2484)Gat>Aat p.D828N BACH2_ENST00000343122.3_Missense_Mutation_p.D828N|BACH2_ENST00000537989.1_Missense_Mutation_p.D828N NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 828 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) GTACACTTATCAGTCATTTCC 0.542000 31 304 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50911764 50911764 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:50911764G>C ENST00000013125.4 - 18 1652 c.1334C>G c.(1333-1335)tCt>tGt p.S445C NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 445 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) CATACCAATAGAAGAAGTCTC 0.418000 9 48 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215901489 215901489 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:215901489C>T ENST00000366943.2 - 61 12335 c.11949G>A c.(11947-11949)ttG>ttA p.L3983L USH2A_ENST00000307340.3_Silent_p.L3983L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3983 Fibronectin type-III 25. 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) TTGTCCAATTCAACAGAACTG 0.498000 HNSCC(13;0.011) 4 139 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144759951 144759951 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:144759951G>A ENST00000367545.3 + 11 1312 c.1312G>A c.(1312-1314)Gag>Aag p.E438K NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 438 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACACTCACAGAGGAGCGCAT 0.463000 6 56 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170047 90170047 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:90170047T>C ENST00000609438.1 - 2 1733 c.1215A>G c.(1213-1215)caA>caG p.Q405Q GPRIN3_ENST00000333209.4_Silent_p.Q405Q NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TATTTTCCCGTTGGAAAGCTG 0.527000 8 137 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17902480 17902480 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:17902480G>C ENST00000448223.2 - 10 1044 c.775C>G c.(775-777)Caa>Gaa p.Q259E SMC6_ENST00000381272.4_Missense_Mutation_p.Q285E|SMC6_ENST00000351948.4_Missense_Mutation_p.Q259E|SMC6_ENST00000402989.1_Missense_Mutation_p.Q259E NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 259 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCAATACTTTGAAAACGTTCC 0.343000 5 92 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46977694 46977694 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:46977694C>T ENST00000371253.2 - 11 1692 c.1477G>A c.(1477-1479)Gtt>Att p.V493I GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V296I NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 493 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTTTTGGAAACGGGTAGAATG 0.413000 12 123 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596035 161596035 + Silent SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:161596035A>T ENST00000294800.3 - 4 750 c.477T>A c.(475-477)atT>atA p.I159I FCGR3B_ENST00000367964.2_Silent_p.I159I|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR3B_ENST00000531221.1_Silent_p.I195I NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 159 Ig-like C2-type 2. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) TGGCTTTTGGAATGTGGAAGT 0.438000 6 54 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16641730 16641730 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:16641730G>A ENST00000375592.3 - 2 400 c.184C>T c.(184-186)Ctc>Ttc p.L62F FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 62 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TACGGTGAGAGAAAGGACAGG 0.463000 16 87 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75807384 75807384 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:75807384T>C ENST00000550916.1 + 3 534 c.487T>C c.(487-489)Tgg>Cgg p.W163R GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.W163R|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.W98R|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.W56R NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 163 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 TTAGCTTGTTTGGGACCACTC 0.294000 10 203 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846430 58846430 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:58846430A>T ENST00000329665.4 + 2 409 c.262A>T c.(262-264)Ata>Tta p.I88L NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CAAGGAGCAGATACTGGAGCT 0.662000 5 61 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71802308 71802308 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:71802308T>C ENST00000373545.3 - 31 3750 c.3312A>G c.(3310-3312)ggA>ggG p.G1104G PHKA1_ENST00000541944.1_Silent_p.G1074G|PHKA1_ENST00000373539.3_Silent_p.G1163G|PHKA1_ENST00000373542.4_Silent_p.G1146G|PHKA1_ENST00000339490.3_Silent_p.G1133G P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1146 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CAATGATGCTTCCGATGCTAT 0.433000 4 42 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21201467 21201467 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:21201467A>C ENST00000274695.4 + 15 1677 c.1510A>C c.(1510-1512)Aaa>Caa p.K504Q CDKAL1_ENST00000378624.4_Missense_Mutation_p.K413Q|CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K504Q NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 504 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CTCCATCAGCAAACCGCTAGC 0.473000 4 135 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 34 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169159 32169159 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:32169159C>T ENST00000375023.3 - 22 4012 c.3874G>A c.(3874-3876)Gag>Aag p.E1292K NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1292 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGCCCCCACTCTGGGTCCCCA 0.637000 4 34 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24494686 24494686 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:24494686C>T ENST00000355123.4 - 19 2649 c.2206G>A c.(2206-2208)Gag>Aag p.E736K ITSN2_ENST00000361999.3_Missense_Mutation_p.E709K|ITSN2_ENST00000406921.3_Missense_Mutation_p.E736K NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 736 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) tgtttctcctcagctttccgt 0.353000 9 112 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27892155 27892155 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:27892155G>A ENST00000326019.6 + 5 1528 c.1246G>A c.(1246-1248)Gag>Aag p.E416K NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 416 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) ACTGGTGGCTGAGGCCATTCA 0.438000 25 258 0 0 1 0 0 MRPL22 29093 broad.mit.edu 37 5 154346277 154346277 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:154346277G>A ENST00000523037.1 + 7 482 c.441G>A c.(439-441)ctG>ctA p.L147L MRPL22_ENST00000439747.3_Silent_p.L173L|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000265229.8_Silent_p.L67L|MRPL22_ENST00000522038.1_Silent_p.L153L NM_014180.3 NP_054899.2 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 147 translation large ribosomal subunit|mitochondrion structural constituent of ribosome central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCAGTGCCTGAAACGCATCC 0.493000 6 101 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348136 10348136 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:10348136T>A ENST00000255381.2 - 38 5657 c.5547A>T c.(5545-5547)agA>agT p.R1849S RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1849 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 CCTTCACTCTTCTCTCATGTT 0.423000 8 108 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95571561 95571561 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:95571561G>C ENST00000526495.1 - 22 3407 c.3116C>G c.(3115-3117)gCt>gGt p.A1039G DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000393063.1_Missense_Mutation_p.A1039G|DICER1_ENST00000343455.3_Missense_Mutation_p.A1039G|DICER1_ENST00000541352.1_Missense_Mutation_p.A1039G|DICER1_ENST00000527414.1_Missense_Mutation_p.A1039G Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1039 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGGATGTATAGCACAGAGTTC 0.413000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 10 152 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13230890 13230890 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:13230890G>C ENST00000378694.1 + 9 1300 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q MCM10_ENST00000378714.3_Missense_Mutation_p.E409Q|MCM10_ENST00000484800.2_Missense_Mutation_p.E410Q Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 410 Zinc finger-like. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GCGTGACTGTGAGTACTGTCA 0.542000 15 303 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93722607 93722607 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:93722607C>T ENST00000394222.3 + 3 510 c.235C>T c.(235-237)Cgg>Tgg p.R79W ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R79W|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron NM_001174150.1 NP_001167621.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 79 R -> Q (in JBTS8; reduces binding to GTP). GTP binding p.R79R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 AATAAGAATTCGGGGAATCTG 0.398000 19 105 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725327 106725327 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:106725327A>G ENST00000390609.2 - 0 303 AGTATGTGCTACCACCACTAC 0.557000 22 621 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49634093 49634093 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:49634093C>G ENST00000374189.1 + 8 1032 c.851C>G c.(850-852)tCa>tGa p.S284* MAPK8_ENST00000374182.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.S208* P45983 MK08_HUMAN mitogen-activated protein kinase 8 284 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCAGCTGACTCAGAACACAAC 0.368000 7 132 0 0 1 0 0 IL33 90865 broad.mit.edu 37 9 6256016 6256016 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:6256016C>T ENST00000381434.3 + 7 674 c.661C>T c.(661-663)Cat>Tat p.H221Y IL33_ENST00000456383.2_Missense_Mutation_p.H179Y|IL33_ENST00000417746.2_Missense_Mutation_p.H95Y NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 221 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) CTTTGTCCTTCATAATATGCA 0.408000 6 86 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110466036 110466036 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:110466036G>C ENST00000329608.6 + 6 1184 c.793G>C c.(793-795)Gag>Cag p.E265Q CSF1_ENST00000344188.5_Missense_Mutation_p.E265Q|CSF1_ENST00000369802.3_Missense_Mutation_p.E265Q|CSF1_ENST00000369801.1_Missense_Mutation_p.E265Q|CSF1_ENST00000420111.2_Intron NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 265 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TGAGCCGCCAGAGACCCCAGT 0.637000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 78 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55841140 55841140 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:55841140G>A ENST00000302000.6 - 2 197 c.103C>T c.(103-105)Cca>Tca p.P35S PYGO1_ENST00000563719.1_Missense_Mutation_p.P35S NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 35 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTCTTATCTGGGCTTCCTAGT 0.373000 5 75 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146046248 146046248 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:146046248A>G ENST00000296577.4 + 17 2262 c.1747A>G c.(1747-1749)Att>Gtt p.I583V OTUD4_ENST00000455611.2_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 583 interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) ACTTAATTCAATTAAGGTATG 0.328000 3 53 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12061880 12061880 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:12061880A>T ENST00000235329.5 + 10 1347 c.1025A>T c.(1024-1026)gAg>gTg p.E342V MFN2_ENST00000444836.1_Missense_Mutation_p.E342V NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 342 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGAATTTTGAGAGGAGATTT 0.507000 OREG0013107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 241 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43480030 43480030 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:43480030G>A ENST00000372422.2 - 9 1110 c.928C>T c.(928-930)Ccc>Tcc p.P310S YIPF3_ENST00000506469.1_Missense_Mutation_p.P316S NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 310 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GGGATGTTGGGGCCCTCCAGT 0.607000 5 101 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151884372 151884372 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:151884372G>A ENST00000355193.2 - 33 5201 c.4983C>T c.(4981-4983)ttC>ttT p.F1661F KMT2C_ENST00000262189.6_Silent_p.F1661F lysine (K)-specific methyltransferase 2C TTAAGTTGGGGAAATTAATAT 0.393000 6 104 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939549 12939549 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:12939549G>C ENST00000218032.6 + 2 2477 c.2390G>C c.(2389-2391)aGa>aCa p.R797T TLR8_ENST00000311912.5_Missense_Mutation_p.R815T NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 797 LRRCT. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAAATTCCCAGACTGGTAGAT 0.433000 4 89 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45221772 45221772 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:45221772G>A ENST00000372217.1 + 9 1029 c.678G>A c.(676-678)gtG>gtA p.V226V KIF2C_ENST00000372218.4_Silent_p.V239V|KIF2C_ENST00000372224.4_Silent_p.V280V|KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372222.3_Silent_p.V167V Q99661 KIF2C_HUMAN kinesin family member 2C 280 Globular (Potential).|Negative regulator of microtubule-binding (By similarity). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) AAATTGATGTGATTTCCATTC 0.448000 6 135 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53776633 53776633 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:53776633C>G ENST00000426431.2 + 3 941 c.881C>G c.(880-882)tCa>tGa p.S294* SP1_ENST00000327443.4_Nonsense_Mutation_p.S301* NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 301 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CCTGTCACCTCAGGGACTACC 0.537000 6 112 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88144674 88144674 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:88144674A>G ENST00000507897.1 + 11 1480 c.1397A>G c.(1396-1398)tAt>tGt p.Y466C C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y466C Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 466 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CCTGAACATTATATTGACATA 0.279000 8 105 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250647 140250647 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr5:140250647C>T ENST00000398640.2 + 1 1959 c.1959C>T c.(1957-1959)caC>caT p.H653H PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGGATCACGGTGAGCCGG 0.677000 6 100 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62062712 62062712 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:62062712G>C ENST00000359689.1 - 9 1305 c.1129C>G c.(1129-1131)Caa>Gaa p.Q377E KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q377E|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000360480.3_Intron O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 377 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.Q377E(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCGTAGGTTTGAGTTTGCGAA 0.448000 6 102 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76781642 76781642 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:76781642G>A ENST00000287239.4 + 16 3514 c.3025G>A c.(3025-3027)Gag>Aag p.E1009K KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E826K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E717K|RP11-77G23.2_ENST00000413431.1_RNA NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1009 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CACTTAGGCTGAGCGGCTAAT 0.493000 OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 33 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151403213 151403213 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:151403213G>A ENST00000271715.2 - 4 702 c.388C>T c.(388-390)Cag>Tag p.Q130* POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q77*|POGZ_ENST00000368863.2_Intron|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q130*|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q77* NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 130 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCATGACCTGAACAGGCCTC 0.507000 6 196 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44047099 44047099 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:44047099C>T ENST00000258704.3 + 5 1002 c.865C>T c.(865-867)Cag>Tag p.Q289* POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 289 Arg-rich. endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 GAACCGCTCTCAGATAGTCCT 0.587000 22 191 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731218 185731218 + Silent SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:185731218A>T ENST00000302277.6 + 2 828 c.234A>T c.(232-234)tcA>tcT p.S78S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 78 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACATTAATTCATATGACCATG 0.363000 3 61 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274891 29274891 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:29274891C>T ENST00000377160.2 + 1 489 c.425C>T c.(424-426)gCa>gTa p.A142V NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TGTAGGCATGCAGTGATAGCT 0.493000 4 137 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2285351 2285351 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:2285351C>T ENST00000301727.4 + 14 2181 c.2133C>T c.(2131-2133)atC>atT p.I711I E4F1_ENST00000565090.1_Silent_p.I534I|E4F1_ENST00000564139.1_3'UTR NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 711 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCGACACCATCACCATCGCCA 0.687000 6 45 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4634707 4634707 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:4634707T>A ENST00000261250.3 - 5 636 c.549A>T c.(547-549)aaA>aaT p.K183N C12orf4_ENST00000545746.1_Missense_Mutation_p.K183N NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 183 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CTGTCAGTGATTTTCCCAATT 0.353000 10 101 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10122810 10122810 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:10122810C>G ENST00000287647.3 + 31 3096 c.3003C>G c.(3001-3003)ttC>ttG p.F1001L FANCD2_ENST00000383806.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000419585.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383807.1_Missense_Mutation_p.F1001L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1001 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) ATATTGGATTCTCACATCTCC 0.408000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 133 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49932628 49932628 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:49932628G>A ENST00000296474.3 - 14 3270 c.3243C>T c.(3241-3243)gtC>gtT p.V1081V MST1R_ENST00000344206.4_Silent_p.V1032V NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1081 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACTGTGGGTGACCACCCGCT 0.607000 18 384 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129601240 129601240 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:129601240G>T ENST00000421865.2 + 18 2534 c.2485G>T c.(2485-2487)Gga>Tga p.G829* NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 829 Laminin EGF-like 7. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCGGAGTCTTGGATTGATCTG 0.453000 5 56 0.00116845 0.00120016 1 1 0 RBM17 84991 broad.mit.edu 37 10 6156039 6156039 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:6156039G>C ENST00000446108.1 + 10 1602 c.958G>C c.(958-960)Gaa>Caa p.E320Q RBM17_ENST00000379888.4_Missense_Mutation_p.E320Q|RBM17_ENST00000476706.1_3'UTR NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 320 RRM. mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AGAGGTGGATGAAGACTTGGA 0.323000 3 44 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225379487 225379487 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:225379487G>T ENST00000264414.4 - 4 719 c.381C>A c.(379-381)gaC>gaA p.D127E CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409777.1_Missense_Mutation_p.D103E|CUL3_ENST00000344951.4_Missense_Mutation_p.D61E|CUL3_ENST00000409096.1_Missense_Mutation_p.D103E NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 127 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CATACACACGGTCCTACAGTT 0.313000 4 71 0.150653 0.15096 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2807793 2807793 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr8:2807793A>T ENST00000602557.1 - 68 10832 c.10277T>A c.(10276-10278)gTa>gAa p.V3426E CSMD1_ENST00000542608.1_Missense_Mutation_p.V3248E|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3426E|CSMD1_ENST00000602723.1_Missense_Mutation_p.V3249E|CSMD1_ENST00000400186.3_Missense_Mutation_p.V3249E|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3425E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3426 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAACTTGCTTACAAAAATATC 0.413000 7 137 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50006080 50006080 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:50006080G>C ENST00000443081.1 + 3 1745 c.826G>C c.(826-828)Gat>Cat p.D276H RBM6_ENST00000266022.4_Missense_Mutation_p.D408H|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 408 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAGTACCGTGATGTGGATCA 0.522000 8 59 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343481 130343481 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:130343481G>A ENST00000299164.2 + 8 2618 c.2618G>A c.(2617-2619)cGc>cAc p.R873H NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 873 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCGGGCAGCGCACGGTCCCT 0.746000 5 39 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956138 42956138 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:42956138C>G ENST00000541208.1 + 5 942 c.573C>G c.(571-573)ttC>ttG p.F191L KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.F191L|ZNF662_ENST00000328199.6_Missense_Mutation_p.F217L Q6ZS27 ZN662_HUMAN zinc finger protein 662 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) AGCAAATATTCTATATATGTG 0.363000 7 71 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55598902 55598902 + Missense_Mutation SNP G G A rs147330720 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:55598902G>A ENST00000201647.6 + 20 2148 c.2092G>A c.(2092-2094)Gag>Aag p.E698K EPS8L1_ENST00000588359.1_Missense_Mutation_p.E384K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E523K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E634K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E571K NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 698 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCAGGACAAAGAGAAAGTGTC 0.597000 7 103 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254056 30254056 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:30254056G>A ENST00000361644.2 + 5 752 c.15G>A c.(13-15)caG>caA p.Q5Q NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 5 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CTCGGGGTCAGAAGAGTACGC 0.552000 3 26 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21946028 21946028 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:21946028C>T ENST00000406877.3 - 6 1079 c.800G>A c.(799-801)cGg>cAg p.R267Q CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R233Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R221Q NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 267 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GTTCATACGCCGCGTGATCTG 0.532000 8 267 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166237240 166237240 + Splice_Site SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:166237240A>T ENST00000357398.3 + 24 4736 c.e24+1 SCN2A_ENST00000375437.2_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site|SCN2A_ENST00000283256.6_Splice_Site Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAAAAAGAAGATAAGTATATT 0.274000 4 92 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565497 56565497 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:56565497C>T ENST00000323777.3 - 1 248 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 47 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCTCGGCCTCGAAGAGCGGC 0.726000 6 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113380 209113380 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr2:209113380C>G ENST00000415913.1 - 4 508 c.127G>C c.(127-129)Gat>Cat p.D43H IDH1_ENST00000446179.1_Missense_Mutation_p.D43H|IDH1_ENST00000345146.2_Missense_Mutation_p.D43H NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 43 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 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) ATGCCTAAATCATAGCTTGAA 0.388000 Mis gliobastoma 5 95 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286119 48286119 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:48286119C>T ENST00000320048.1 + 1 707 c.707C>T c.(706-708)tCc>tTc p.S236F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AAGGCCCTCTCCACCTGTGCC 0.522000 4 84 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457967 45457967 + RNA SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr12:45457967T>A ENST00000548424.1 + 0 448 CAGCTTTTACTGTGCTGTCAC 0.438000 4 69 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11308601 11308601 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:11308601G>C ENST00000379261.4 + 6 650 c.558G>C c.(556-558)caG>caC p.Q186H CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H|CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 186 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CAATGGCACAGAATGCAATCA 0.448000 4 64 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731087 23731087 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:23731087T>C ENST00000397312.2 - 3 540 c.266A>G c.(265-267)gAc>gGc p.D89G ELAVL2_ENST00000380117.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D89G|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D118G NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 89 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) ATCCTTGGGGTCAATGTAGTT 0.373000 4 61 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15234050 15234050 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:15234050C>T ENST00000263383.3 - 4 481 c.342G>A c.(340-342)acG>acA p.T114T ILVBL_ENST00000534378.1_Silent_p.T7T|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 114 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CCACGCCCACCGTCCCTGGAA 0.597000 7 74 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968032 4968032 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrY:4968032A>T ENST00000333703.4 + 5 2893 c.2380A>T c.(2380-2382)Aat>Tat p.N794Y PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805Y NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 805 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCTGTTCGTGAATGAGTCAGT 0.428000 11 67 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112723668 112723668 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:112723668A>G ENST00000297146.3 - 3 1712 c.1109T>C c.(1108-1110)aTa>aCa p.I370T GPR85_ENST00000424100.1_Missense_Mutation_p.I370T|GPR85_ENST00000501255.2_Missense_Mutation_p.I370T|GPR85_ENST00000449591.1_Missense_Mutation_p.I370T NM_001146266.1 NP_001139738.1 P60893 GPR85_HUMAN G protein-coupled receptor 85 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCTCCCTCATATAACACAGTA 0.423000 10 139 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74631777 74631777 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr18:74631777C>T ENST00000253159.8 + 20 3512 c.3314C>T c.(3313-3315)tCa>tTa p.S1105L ZNF236_ENST00000320610.9_Missense_Mutation_p.S1107L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1105 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGAAATGCATCACGGAAGTCT 0.478000 7 158 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19556878 19556878 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:19556878G>A ENST00000328405.2 + 14 2766 c.2500G>A c.(2500-2502)Gaa>Aaa p.E834K NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 834 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TTTTGGCTCTGAACGAATCAG 0.358000 13 39 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866662 37866662 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr17:37866662G>T ENST00000406381.2 + 9 1249 c.739G>T c.(739-741)Gac>Tac p.D247Y ERBB2_ENST00000584450.1_Missense_Mutation_p.D277Y|ERBB2_ENST00000540042.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.D277Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D262Y|ERBB2_ENST00000445658.2_Intron NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 277 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTACAACACAGACACGTTTGA 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 64 8.12818e-05 8.4726e-05 1 1 0 PALB2 79728 broad.mit.edu 37 16 23647423 23647423 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:23647423C>T ENST00000261584.4 - 4 596 c.444G>A c.(442-444)aaG>aaA p.K148K NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 148 Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCTGCTGCTTCTTTCTTCTGC 0.443000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 4 86 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34068019 34068019 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:34068019G>A ENST00000373381.4 - 43 6836 c.6660C>T c.(6658-6660)ctC>ctT p.L2220L CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.L319L|CSMD2_ENST00000373388.2_Silent_p.L319L|CSMD2_ENST00000373380.1_Silent_p.L1093L NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2222 CUB 13. integral to membrane|plasma membrane protein binding 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) GGCTGAGGTTGAGGCGGACGC 0.592000 5 68 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130743646 130743646 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:130743646T>G ENST00000264992.3 - 3 946 c.505A>C c.(505-507)Aaa>Caa p.K169Q ASTE1_ENST00000514044.1_Missense_Mutation_p.K169Q NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 169 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 AACCCAGTTTTCAGGTCAAAA 0.408000 3 75 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456194 5456194 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:5456194C>T ENST00000222033.4 + 1 769 c.692C>T c.(691-693)tCg>tTg p.S231L NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 231 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TGCAACAAGTCGGCCCACGCG 0.687000 10 93 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201694 248201694 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:248201694T>A ENST00000366479.2 + 1 221 c.125T>A c.(124-126)cTa>cAa p.L42Q OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTGGAAATCTATCCATGATT 0.393000 18 282 0 0 1 0 0 CALU 813 broad.mit.edu 37 7 128399894 128399894 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:128399894G>C ENST00000542996.2 + 6 1598 c.655G>C c.(655-657)Gaa>Caa p.E219Q CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.E211Q|CALU_ENST00000479257.1_Missense_Mutation_p.E219Q|CALU_ENST00000538546.1_Missense_Mutation_p.E60Q|CALU_ENST00000449187.2_Missense_Mutation_p.E211Q|CALU_ENST00000535011.2_Missense_Mutation_p.E211Q NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 211 EF-hand 4. platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 CATTGATCTAGAAGAGTATAT 0.378000 5 163 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92797117 92797117 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:92797117G>T ENST00000377067.3 + 7 1808 c.1436G>T c.(1435-1437)tGg>tTg p.W479L NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 479 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CCTGACAAGTGGGAACTTCTT 0.433000 5 100 1.23904e-05 1.30537e-05 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26463232 26463232 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr10:26463232G>C ENST00000265944.5 + 30 4205 c.4039G>C c.(4039-4041)Gat>Cat p.D1347H MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1347 IQ 3. D -> H (in a renal clear cell carcinoma sample; somatic mutation). protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.D1347H(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGAGGAAGAAGATAAAGCAGC 0.498000 7 70 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294083 79294083 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr15:79294083C>G ENST00000419573.3 - 17 2818 c.2544G>C c.(2542-2544)caG>caC p.Q848H RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q832H|RASGRF1_ENST00000394745.3_Missense_Mutation_p.Q64H NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 850 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CATCATCACTCTGGTTTTGAT 0.318000 5 144 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384279 12384279 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr19:12384279T>C ENST00000356109.5 - 5 1053 c.935A>G c.(934-936)gAt>gGt p.D312G ZNF44_ENST00000355684.5_Missense_Mutation_p.D264G NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TGAACTGTAATCAGGGAAGGC 0.408000 8 237 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101378760 101378760 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr3:101378760G>A ENST00000312938.4 - 6 2493 c.1913C>T c.(1912-1914)tCg>tTg p.S638L NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGATGTTCCCGATGCTTCATT 0.413000 13 114 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248708 36248708 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:36248708C>T ENST00000315571.5 + 5 549 c.528C>T c.(526-528)atC>atT p.I176I LDLRAD3_ENST00000528989.1_Silent_p.I127I|LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000524419.1_Silent_p.I166I NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 176 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCTATGCCATCATCGGCAGCT 0.557000 6 143 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569923 150569923 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr6:150569923G>C ENST00000361131.4 + 4 582 c.465G>C c.(463-465)agG>agC p.R155S NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 155 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) GAGGCATGAGGAAACTGAGCC 0.403000 4 55 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123857286 123857286 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr4:123857286C>G ENST00000274008.4 + 7 1378 c.1309C>G c.(1309-1311)Cag>Gag p.Q437E SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AAAGTTACGTCAGATATTTGC 0.303000 6 188 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35871662 35871662 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:35871662C>T ENST00000216797.5 - 5 945 c.844G>A c.(844-846)Gag>Aag p.E282K NFKBIA_ENST00000557389.1_Missense_Mutation_p.E192K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E239K|NFKBIA_ENST00000557100.1_5'UTR NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 282 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) TCCTCACTCTCTGGCAGCATC 0.562000 7 105 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380325 147380325 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:147380325G>C ENST00000240986.4 + 2 296 c.243G>C c.(241-243)caG>caC p.Q81H GJA8_ENST00000369235.1_Missense_Mutation_p.Q81H NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 81 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GGGTGCTGCAGATCATCTTCG 0.622000 10 113 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801586 67801586 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:67801586T>C ENST00000544246.1 - 2 1678 c.987A>G c.(985-987)acA>acG p.T329T PCDH9_ENST00000377861.3_Silent_p.T329T|PCDH9_ENST00000377865.2_Silent_p.T329T|PCDH9_ENST00000456367.1_Silent_p.T329T|PCDH9_ENST00000328454.5_Silent_p.T329T NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 329 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGCCAGCACTGTCACTTTGT 0.463000 7 125 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552078 100552078 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr7:100552078T>C ENST00000319509.7 + 1 829 c.829T>C c.(829-831)Tcc>Ccc p.S277P mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAATGTGGGCTCCGCTTCTAT 0.473000 11 442 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12336509 12336509 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:12336509T>C ENST00000358136.3 + 19 2994 c.2864T>C c.(2863-2865)cTc>cCc p.L955P VPS13D_ENST00000356315.4_Missense_Mutation_p.L955P NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 955 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCGCAGCTCCTCCTGGCGGAA 0.502000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 76 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67340468 67340468 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:67340468C>G ENST00000371026.3 - 5 851 c.796G>C c.(796-798)Gta>Cta p.V266L WDR78_ENST00000371023.3_Missense_Mutation_p.V266L|WDR78_ENST00000371022.3_Missense_Mutation_p.V266L|WDR78_ENST00000431318.1_Missense_Mutation_p.V12L NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 266 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 ACATACGTTACTTTCTCAGCT 0.403000 4 125 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238053228 238053228 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:238053228G>T ENST00000366570.4 - 3 497 c.339C>A c.(337-339)ggC>ggA p.G113G RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 113 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTTCAGCCGCGCCTGCTCCTT 0.562000 5 222 0.184627 0.184627 1 1 0 ERCC8 1161 broad.mit.edu 37 5 60186872 60186872 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:60186872C>T ENST00000426742.2 - 11 1145 c.711G>A c.(709-711)ttG>ttA p.L237L ERCC8_ENST00000265038.5_Silent_p.L295L|ERCC8_ENST00000543101.1_Silent_p.L142L|ERCC8_ENST00000462279.1_5'UTR Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 295 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) CAGTGAATTTCAATCCTTTTT 0.328000 8 100 0 0 1 0 0 MRPS12 6183 broad.mit.edu 37 19 39422995 39422995 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:39422995C>G ENST00000407800.2 + 2 413 c.72C>G c.(70-72)ctC>ctG p.L24L MRPS12_ENST00000402029.3_Silent_p.L24L|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Silent_p.L24L|SARS2_ENST00000448145.2_Intron NM_021107.1 NP_066930.1 O15235 RT12_HUMAN mitochondrial ribosomal protein S12 24 translation mitochondrial ribosome|small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TTCCCCGGCTCTGGGCTACCT 0.622000 10 88 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46314558 46314558 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:46314558T>G ENST00000510861.1 - 5 604 c.431A>C c.(430-432)aAg>aCg p.K144T GABRA2_ENST00000507069.1_Missense_Mutation_p.K144T|GABRA2_ENST00000356504.1_Missense_Mutation_p.K144T|GABRA2_ENST00000540012.1_Missense_Mutation_p.K89T|GABRA2_ENST00000514090.1_Missense_Mutation_p.K144T|GABRA2_ENST00000515082.1_Missense_Mutation_p.K144T|GABRA2_ENST00000381620.4_Missense_Mutation_p.K144T P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 144 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGAAGCAACTTATTTGGCAT 0.338000 6 139 0 0 1 0 0 ANO6 196527 broad.mit.edu 37 12 45803231 45803231 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:45803231A>G ENST00000320560.8 + 16 2174 c.1972A>G c.(1972-1974)Atg>Gtg p.M658V ANO6_ENST00000435642.1_Missense_Mutation_p.M658V|ANO6_ENST00000425752.2_Missense_Mutation_p.M658V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Missense_Mutation_p.M679V|ANO6_ENST00000441606.2_Missense_Mutation_p.M640V NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 658 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.M658V(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TCTGCAGCCTATGGGCAAACT 0.378000 10 155 0 0 1 0 0 B3GALNT2 148789 broad.mit.edu 37 1 235618938 235618938 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:235618938C>A ENST00000366600.3 - 9 1312 c.1084G>T c.(1084-1086)Gac>Tac p.D362Y NM_152490.2 NP_689703.1 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 362 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GCTTCGAGGTCTATGTAACAG 0.413000 13 69 1.61879e-10 1.7459e-10 1 1 0 PER1 5187 broad.mit.edu 37 17 8044597 8044597 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:8044597G>C ENST00000317276.4 - 23 3899 c.3662C>G c.(3661-3663)tCa>tGa p.S1221* PER1_ENST00000581082.1_Nonsense_Mutation_p.S1198* NM_002616.2 NP_002607.2 O15534 PER1_HUMAN period circadian clock 1 1221 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 ATCCAGCTCTGAGAAGAGTGG 0.627000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 7 94 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230301 56230301 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:56230301T>C ENST00000279791.1 - 1 576 c.577A>G c.(577-579)Aaa>Gaa p.K193E NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) GTGATTTCTTTGATGTGCACT 0.423000 4 59 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638175 56638175 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:56638175C>T ENST00000267116.7 - 25 2888 c.2767G>A c.(2767-2769)Gag>Aag p.E923K ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 923 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TTCTTGTTCTCATCCAACACA 0.507000 5 45 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4725372 4725372 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:4725372G>C ENST00000302640.8 + 27 3693 c.3343G>C c.(3343-3345)Gat>Cat p.D1115H ITPR1_ENST00000423119.2_Missense_Mutation_p.D1121H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.D1115H|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1121H|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1106H|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1130H NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1130 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACAAGACTTGGATCAACTGAG 0.463000 4 104 0 0 1 0 0 MRPS9 64965 broad.mit.edu 37 2 105665731 105665731 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:105665731G>C ENST00000258455.3 + 2 348 c.238G>C c.(238-240)Gag>Cag p.E80Q NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 80 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GCAGATTGAAGAGTTCAACAT 0.348000 4 110 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725251 106725251 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:106725251G>C ENST00000390609.2 - 0 379 CTGTTCATTTGCAGATACAGC 0.522000 7 645 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47856509 47856509 + Silent SNP G G A rs139215111 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:47856509G>A ENST00000328771.4 + 2 571 c.222G>A c.(220-222)aaG>aaA p.K74K NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 74 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGAATCTCAAGACCTCCAGGA 0.537000 4 125 0 0 1 0 0 IGFN1 91156 broad.mit.edu 37 1 201193807 201193807 + Splice_Site SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:201193807G>T ENST00000335211.4 + 21 10421 c.10291G>T c.(10291-10293)Gcc>Tcc p.A3431S IGFN1_ENST00000295591.8_Intron NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCTTTCTCAGGCCATGCCCAT 0.532000 6 37 5.9392e-07 6.37611e-07 1 1 0 JUN 3725 broad.mit.edu 37 1 59247951 59247951 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:59247951G>C ENST00000371222.2 - 1 1834 c.792C>G c.(790-792)atC>atG p.I264M NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 264 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding p.I264M(1) breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) TGGAGGCAGCGATGCGGTTCC 0.612000 A sarcoma 6 77 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367546 58367546 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:58367546G>T ENST00000339656.5 + 2 290 c.108G>T c.(106-108)caG>caT p.Q36H ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q36H(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) GTGAGGCTCAGAGGTGCTTGT 0.498000 12 107 0.000219431 0.000228738 1 1 0 SMAD3 4088 broad.mit.edu 37 15 67477081 67477081 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:67477081C>T ENST00000327367.4 + 7 1198 c.888C>T c.(886-888)ctC>ctT p.L296L SMAD3_ENST00000439724.3_Silent_p.L252L|SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000537194.2_Silent_p.L101L NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 296 MH2.|Sufficient for interaction with XPO4. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GCGTGCGGCTCTACTACATCG 0.587000 4 62 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59175901 59175901 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:59175901G>C ENST00000380516.2 - 20 3007 c.2920C>G c.(2920-2922)Caa>Gaa p.Q974E SLTM_ENST00000536328.1_Missense_Mutation_p.Q543E NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 974 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTAGGCCCTTGAGAGGGTGGA 0.507000 13 128 0 0 1 0 0 SLC19A2 10560 broad.mit.edu 37 1 169437400 169437400 + Silent SNP G G A rs149313767 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:169437400G>A ENST00000236137.5 - 5 1550 c.1314C>T c.(1312-1314)ctC>ctT p.L438L SLC19A2_ENST00000367804.4_Silent_p.L237L NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 438 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CAATTAGAGTGAGCAGCGTCT 0.438000 13 82 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11898675 11898675 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:11898675G>A ENST00000346436.6 + 22 2539 c.2487G>A c.(2485-2487)acG>acA p.T829T CLCN6_ENST00000376496.3_Silent_p.T829T|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T807T NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 829 CBS 2. cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGTTCAGAACGATGGGCCTGC 0.617000 OREG0013104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 70 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168096396 168096396 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:168096396C>G ENST00000409195.1 + 6 979 c.890C>G c.(889-891)tCa>tGa p.S297* XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409728.1_Nonsense_Mutation_p.S330*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S297*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.S75*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.S297*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.S330* NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 122 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 GTTGGCACTTCAAGAAGCAGC 0.378000 5 78 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367498 58367498 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:58367498G>T ENST00000339656.5 + 2 242 c.60G>T c.(58-60)gtG>gtT p.V20V ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.V19V|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Silent_p.V20V|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TTGAAGATGTGGCTGTGAACT 0.527000 7 157 0.00829132 0.00849133 1 1 0 PDIA4 9601 broad.mit.edu 37 7 148702312 148702312 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:148702312C>G ENST00000286091.4 - 9 1675 c.1443G>C c.(1441-1443)gaG>gaC p.E481D NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 481 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) TCTTCCCACTCTCGTCCAGGA 0.582000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 192 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155508040 155508040 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:155508040G>A ENST00000302053.3 - 5 619 c.541C>T c.(541-543)Cga>Tga p.R181* FGA_ENST00000403106.3_Nonsense_Mutation_p.R181* NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 181 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) CATGACCCTCGACAAGATCGG 0.403000 4 83 0 0 1 0 0 APOBEC3C 27350 broad.mit.edu 37 22 39413828 39413828 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:39413828G>A ENST00000361441.4 + 3 512 c.232G>A c.(232-234)Gac>Aac p.D78N APOBEC3D_ENST00000381568.4_Intron NM_014508.2 NP_055323.2 Q9NRW3 ABC3C_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C DNA demethylation|interspecies interaction between organisms|negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|skin(1) 6 Melanoma(58;0.04) GTTCTGCGACGACATACTGTC 0.572000 7 213 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507068 26507068 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:26507068C>T ENST00000361530.6 + 2 322 c.177C>T c.(175-177)ctC>ctT p.L59L CNKSR1_ENST00000374253.5_Silent_p.L59L|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 59 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) ACCAGGAGCTCATCCTGGGCG 0.642000 9 60 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160819070 160819070 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:160819070C>G ENST00000392145.1 + 2 516 c.489C>G c.(487-489)ctC>ctG p.L163L SLC22A3_ENST00000275300.2_Silent_p.L163L O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 163 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TCCTGAACCTCGGCTTCCTGA 0.463000 4 124 0 0 1 0 0 SLC51A 200931 broad.mit.edu 37 3 195953840 195953840 + Silent SNP G G T rs145068718 byFrequency TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:195953840G>T ENST00000296327.5 + 3 347 c.138G>T c.(136-138)ctG>ctT p.L46L NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit CTCTAGCCCTGGGCCCTGTGG 0.592000 7 88 0.00198382 0.00204513 1 1 0 TUBA1B 10376 broad.mit.edu 37 12 49521941 49521941 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:49521941C>G ENST00000336023.5 - 4 1250 c.1156G>C c.(1156-1158)Gag>Cag p.E386Q RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 386 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GCCCAGGCCTCAGCAATGGCT 0.577000 4 81 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970461 115970461 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:115970461C>T ENST00000251864.2 + 12 1659 c.1506C>T c.(1504-1506)caC>caT p.H502H TDRD1_ENST00000369280.1_Silent_p.H502H|TDRD1_ENST00000369282.1_Silent_p.H502H|TDRD1_ENST00000422662.1_Silent_p.H163H|TDRD1_ENST00000369281.2_Silent_p.H502H NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 502 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TGGTTGCCCACATTCAAACAC 0.383000 11 85 0 0 1 0 0 ZNF485 220992 broad.mit.edu 37 10 44112496 44112496 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:44112496C>G ENST00000361807.3 + 5 1199 c.1005C>G c.(1003-1005)ttC>ttG p.F335L ZNF485_ENST00000374435.3_Missense_Mutation_p.F335L|ZNF485_ENST00000374437.2_Missense_Mutation_p.F244L NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 GAAAATCTTTCAGGTATAGCT 0.428000 11 83 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109854613 109854613 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:109854613T>C ENST00000424296.2 - 28 3487 c.3411A>G c.(3409-3411)ggA>ggG p.G1137G AK9_ENST00000355283.1_Silent_p.G216G|AK9_ENST00000341338.6_Silent_p.G216G NM_001145128.2 NP_001138600.2 adenylate kinase 9 ATCCACGATCTCCCAAAAACT 0.358000 6 110 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588547 247588547 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:247588547C>G ENST00000366497.2 + 4 2582 c.1802C>G c.(1801-1803)tCt>tGt p.S601C NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S601C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S601C|NLRP3_ENST00000391827.2_Missense_Mutation_p.S601C|NLRP3_ENST00000366496.2_Missense_Mutation_p.S601C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S601C NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 601 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCAAGATCTCTCAGCAAATC 0.443000 10 70 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210560153 210560153 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:210560153G>A ENST00000360351.4 + 7 3765 c.3259G>A c.(3259-3261)Gag>Aag p.E1087K MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1083K|MAP2_ENST00000361559.4_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1087 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCACCGCAGGAGGCAGATGC 0.488000 4 84 0 0 1 0 0 REG3G 130120 broad.mit.edu 37 2 79255389 79255389 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:79255389A>T ENST00000272324.5 + 6 699 c.515A>T c.(514-516)aAg>aTg p.K172M REG3G_ENST00000409471.1_Missense_Mutation_p.K126M|REG3G_ENST00000393897.2_Missense_Mutation_p.K172M NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 172 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TATGTCTGCAAGTTCAAGGAC 0.483000 4 93 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185704088 185704088 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:185704088G>A ENST00000271588.4 + 1 406 c.177G>A c.(175-177)gtG>gtA p.V59V HMCN1_ENST00000367492.2_Silent_p.V59V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 59 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAGTTCAGGTGATTGAAGGGG 0.453000 5 101 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3757700 3757700 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:3757700C>T ENST00000252322.1 - 11 1594 c.1126G>A c.(1126-1128)Ggt>Agt p.G376S EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron NM_032680.3 NP_116069.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 376 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) CAGTGCCCACCGACGCACCTT 0.597000 7 39 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475338 50475338 + RNA SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:50475338C>G ENST00000602139.1 + 0 1284 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGCGCGTCTCTCTCAGCTTC 0.667000 6 41 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620611 8620611 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:8620611G>A ENST00000338257.8 - 2 340 c.73C>T c.(73-75)Ctt>Ttt p.L25F NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 25 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 ATCTGGGGAAGAAGCACCATG 0.647000 4 64 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94197621 94197621 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:94197621A>G ENST00000377047.4 + 2 881 c.266A>G c.(265-267)gAg>gGg p.E89G NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 89 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) CTTGTGGAAGAGACAAGCCAT 0.403000 7 181 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9021200 9021200 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:9021200C>G ENST00000299698.7 + 32 4309 c.4129C>G c.(4129-4131)Ccc>Gcc p.P1377A A2ML1_ENST00000539547.1_Missense_Mutation_p.P886A NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1221 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TGGGTTCAGTCCCATGGAGGG 0.423000 10 141 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77294698 77294698 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:77294698C>T ENST00000393774.3 + 2 277 c.153C>T c.(151-153)tcC>tcT p.S51S C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Silent_p.S8S|C14orf166B_ENST00000450042.2_Silent_p.S34S NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 51 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) AGGCCGAATCCCCGCCGACTG 0.502000 15 55 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160097407 160097407 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:160097407G>A ENST00000361216.3 + 8 903 c.814G>A c.(814-816)Gcc>Acc p.A272T ATP1A2_ENST00000392233.3_Missense_Mutation_p.A272T NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 272 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCTACTCTCGCCTCAGGCCT 0.587000 14 77 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186644473 186644473 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:186644473A>G ENST00000367468.5 - 9 1449 c.1313T>C c.(1312-1314)aTt>aCt p.I438T PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 438 I -> T (in Ref. 1; AAA35803). cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GCTCTGGTCAATGGAAGCCTG 0.398000 6 88 0 0 1 0 0 PM20D1 148811 broad.mit.edu 37 1 205799455 205799455 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:205799455G>A ENST00000367136.4 - 12 1382 c.1338C>T c.(1336-1338)ggC>ggT p.G446G PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 446 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) ACCTGTAGATGCCAGTGGTGA 0.448000 7 80 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131502 35131502 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:35131502G>A ENST00000436258.1 - 0 1867 ACAATGGGATGAAGTGTAGAC 0.408000 12 85 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183707229 183707229 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:183707229T>C ENST00000295113.4 - 3 1178 c.569A>G c.(568-570)tAt>tGt p.Y190C NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 190 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) GTTCCGGAAATAGGTCTTCTG 0.363000 7 108 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207741280 207741280 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:207741280A>G ENST00000367049.4 + 25 4064 c.4064A>G c.(4063-4065)gAc>gGc p.D1355G CR1_ENST00000400960.2_Missense_Mutation_p.D905G|CR1_ENST00000367051.1_Missense_Mutation_p.D905G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.D905G|CR1_ENST00000367052.1_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 905 Sushi 21. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCCCACCCAGACAGAGGGACG 0.542000 7 209 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94034041 94034041 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:94034041G>A ENST00000297268.6 + 8 832 c.361G>A c.(361-363)Ggt>Agt p.G121S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 121 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTGAGCCTGGTGAACCTGG 0.383000 HNSCC(75;0.22) 8 161 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201060815 201060815 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:201060815T>C ENST00000362061.3 - 5 873 c.647A>G c.(646-648)gAg>gGg p.E216G CACNA1S_ENST00000367338.3_Missense_Mutation_p.E216G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 216 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGAAGAGCTCCAGCCCGAT 0.557000 8 111 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 4 142 1.23904e-05 1.30912e-05 1 1 0 ZNF202 7753 broad.mit.edu 37 11 123601209 123601209 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:123601209T>C ENST00000336139.4 - 3 750 c.388A>G c.(388-390)Aga>Gga p.R130G ZNF202_ENST00000530393.1_Missense_Mutation_p.R130G|ZNF202_ENST00000529691.1_Missense_Mutation_p.R130G O95125 ZN202_HUMAN zinc finger protein 202 130 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CGCCTTGGTCTCCTGGGTTGT 0.607000 6 135 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151166406 151166406 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:151166406C>T ENST00000282466.3 - 4 1362 c.1363G>A c.(1363-1365)Gat>Aat p.D455N NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 455 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTTGAGCATCACTGGAGTAC 0.423000 11 111 0 0 1 0 0 CABYR 26256 broad.mit.edu 37 18 21723368 21723368 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:21723368C>G ENST00000399496.3 + 3 355 c.190C>G c.(190-192)Cag>Gag p.Q64E CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Q64E|CABYR_ENST00000581397.1_Missense_Mutation_p.Q64E|CABYR_ENST00000415309.2_Missense_Mutation_p.Q64E|CABYR_ENST00000399481.2_Intron NM_012189.2|NM_153769.1 NP_036321.2|NP_722453.1 O75952 CABYR_HUMAN calcium binding tyrosine-(Y)-phosphorylation regulated 64 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding breast(1)|endometrium(2)|large_intestine(4)|lung(4) 11 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) ACAATTTCATCAGATTAAAGG 0.284000 3 31 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84804399 84804399 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:84804399A>T ENST00000389394.3 + 13 2080 c.1943A>T c.(1942-1944)gAa>gTa p.E648V DNAH6_ENST00000237449.6_Missense_Mutation_p.E648V|DNAH6_ENST00000398278.2_Missense_Mutation_p.E648V NM_001370.1 NP_001361.1 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy chain 6 648 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 TTTTTTAGTGAACAACTGGAA 0.303000 6 87 0 0 1 0 0 ICAM5 7087 broad.mit.edu 37 19 10404756 10404756 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:10404756G>C ENST00000221980.4 + 8 1815 c.1752G>C c.(1750-1752)tgG>tgC p.W584C NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 584 Ig-like C2-type 7. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CCAGCAATTGGACATGGGTGG 0.652000 8 102 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6853999 6853999 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:6853999G>A ENST00000304076.2 + 25 2402 c.2308G>A c.(2308-2310)Gac>Aac p.D770N VAV1_ENST00000596764.1_Missense_Mutation_p.D760N|VAV1_ENST00000539284.1_Missense_Mutation_p.D695N|VAV1_ENST00000599806.1_Missense_Mutation_p.D737N|VAV1_ENST00000602142.1_Missense_Mutation_p.D792N NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 792 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 AGCCCGCTATGACTTCTGCGC 0.537000 5 129 0 0 1 0 0 SEPN1 57190 broad.mit.edu 37 1 26136235 26136235 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:26136235C>G ENST00000361547.2 + 7 989 c.934C>G c.(934-936)Cag>Gag p.Q312E SEPN1_ENST00000374315.1_Missense_Mutation_p.Q278E|SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278E NM_020451.2 NP_065184.2 Q9NZV5 SELN_HUMAN selenoprotein N, 1 312 endoplasmic reticulum membrane|extracellular region protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCCTGCTCAGTTCACCGG 0.637000 5 80 0 0 1 0 0 FAM63B 54629 broad.mit.edu 37 15 59144044 59144044 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:59144044A>G ENST00000559228.1 + 8 1699 c.1617A>G c.(1615-1617)ggA>ggG p.G539G FAM63B_ENST00000450403.2_Silent_p.G539G Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 539 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TCCCGGAAGGAATCAGTGATT 0.413000 4 71 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202322 248202322 + Nonsense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:248202322T>A ENST00000366479.2 + 1 849 c.753T>A c.(751-753)taT>taA p.Y251* OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CCTTCTACTATGCACCCTTTG 0.512000 17 145 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149901793 149901793 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:149901793G>T ENST00000439741.2 - 16 1913 c.1663C>A c.(1663-1665)Cct>Act p.P555T MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.P483T|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 555 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGGGGTCCAGGAACCATGAAG 0.532000 7 82 2.0095e-06 2.14255e-06 1 1 0 IQUB 154865 broad.mit.edu 37 7 123104941 123104941 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:123104941A>G ENST00000466202.1 - 10 2280 c.1704T>C c.(1702-1704)ttT>ttC p.F568F IQUB_ENST00000434450.1_Silent_p.F568F|IQUB_ENST00000324698.6_Silent_p.F568F NM_001282855.1 NP_001269784.1 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 568 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TATAATGAAAAAAGAGTGTCG 0.333000 5 124 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748205 43748205 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:43748205T>C ENST00000263801.3 - 12 2838 c.2586A>G c.(2584-2586)tcA>tcG p.S862S TP53BP1_ENST00000450115.2_Silent_p.S867S|TP53BP1_ENST00000382039.3_Silent_p.S867S|TP53BP1_ENST00000605155.1_5'UTR|TP53BP1_ENST00000382044.4_Silent_p.S867S NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 862 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTTCTGTTAATGAATTACTTG 0.468000 Other conserved DNA damage response genes 8 182 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173322581 173322581 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:173322581A>T ENST00000457714.1 + 3 622 c.193A>T c.(193-195)Att>Ttt p.I65F NLGN1_ENST00000545397.1_Missense_Mutation_p.I65F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I65F|NLGN1_ENST00000401917.3_Missense_Mutation_p.I65F NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 65 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) GATAAGAGGGATTAAGAAGGA 0.458000 6 112 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149068 73149068 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:73149068G>A ENST00000286657.4 - 22 3439 c.3403C>T c.(3403-3405)Cag>Tag p.Q1135* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1135 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCTGCTTGCTGAGCACTCCTC 0.512000 4 98 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147343 154147343 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:154147343T>C ENST00000389740.2 - 1 161 c.62A>G c.(61-63)aAt>aGt p.N21S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 21 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTCCGTAGAATTATGATTCTC 0.373000 11 129 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167055835 167055835 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:167055835C>G ENST00000375387.4 - 27 5657 c.5317G>C c.(5317-5319)Gaa>Caa p.E1773Q AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1761Q|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1772Q|SCN9A_ENST00000303354.6_Missense_Mutation_p.E1773Q Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1772 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CTCAGAGGTTCAGTACTTTCT 0.398000 9 165 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123687413 123687413 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:123687413C>T ENST00000369043.3 - 1 138 c.52G>A c.(52-54)Gag>Aag p.E18K ATE1_ENST00000224652.6_Missense_Mutation_p.E18K|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000369040.3_5'UTR NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 18 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) TAGAAGTCCTCGCTAGGGAAA 0.726000 3 15 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50326368 50326368 + Splice_Site SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:50326368C>A ENST00000436390.1 - 12 1383 c.886G>T c.(886-888)Gag>Tag p.E296* IFRD2_ENST00000336089.4_Splice_Site_p.E462*|IFRD2_ENST00000417626.2_Splice_Site_p.E296*|IFRD2_ENST00000429673.2_Splice_Site_p.E360* Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 360 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) ACAAACTCCTCCTGCAATGGG 0.577000 3 28 0.115264 0.11626 1 1 0 CLIP1 6249 broad.mit.edu 37 12 122862450 122862450 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:122862450G>A ENST00000358808.2 - 3 297 c.143C>T c.(142-144)tCt>tTt p.S48F CLIP1_ENST00000302528.7_Missense_Mutation_p.S48F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S48F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S48F|CLIP1_ENST00000540338.1_Missense_Mutation_p.S48F NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 48 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGAGTCTCAGATGATGGAGT 0.403000 13 279 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70206617 70206617 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:70206617C>G ENST00000550536.1 + 9 1695 c.1238C>G c.(1237-1239)tCa>tGa p.S413* AC025263.3_ENST00000550437.1_Nonsense_Mutation_p.S38*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000550847.1_Nonsense_Mutation_p.S104*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.S191*|RAB3IP_ENST00000483530.2_Intron|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.S397*|RAB3IP_ENST00000362025.5_Intron NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 413 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TTAGGGGACTCAAGCAACTAT 0.323000 4 91 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10235527 10235527 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:10235527G>C ENST00000418404.3 - 19 2350 c.2187C>G c.(2185-2187)ctC>ctG p.L729L RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L729L Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 729 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CACTGGCATTGAGGATCCGGT 0.507000 7 87 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119133946 119133946 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:119133946T>G ENST00000264245.4 + 12 3702 c.3170T>G c.(3169-3171)aTt>aGt p.I1057S NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1057 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 AGTCCACAGATTAGGCAAGGT 0.592000 12 200 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101271436 101271436 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:101271436G>C ENST00000519449.1 - 11 2181 c.1865C>G c.(1864-1866)tCa>tGa p.S622* RNF19A_ENST00000341084.2_Nonsense_Mutation_p.S622*|RNF19A_ENST00000523255.1_5'UTR NM_001280539.1|NM_015435.3 NP_001267468.1|NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 622 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GGATGGCTTTGACTCAATATC 0.443000 OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 140 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35913902 35913902 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:35913902G>C ENST00000325722.3 - 16 2619 c.2385C>G c.(2383-2385)atC>atG p.I795M KIAA0319L_ENST00000373266.4_Missense_Mutation_p.I232M|KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 795 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGATATCCAAGATGATCTCCA 0.502000 6 99 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211412 249211412 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:249211412A>G ENST00000539153.1 + 4 875 c.620A>G c.(619-621)cAt>cGt p.H207R PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.H210R|PGBD2_ENST00000355360.4_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 210 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCACATCATCATCTTGTGGCT 0.398000 15 145 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5009123 5009123 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:5009123T>A ENST00000250076.3 - 5 1985 c.1331A>T c.(1330-1332)cAt>cTt p.H444L ZNF232_ENST00000575898.1_Missense_Mutation_p.H435L NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 417 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TTCAATTCAATGGGAAGGCTC 0.403000 5 137 0 0 1 0 0 ISM1 140862 broad.mit.edu 37 20 13251182 13251182 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:13251182C>T ENST00000262487.4 + 2 176 c.170C>T c.(169-171)tCa>tTa p.S57L TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GACACCACATCAGAAACCAGC 0.473000 5 20 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466257 56466257 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:56466257C>A ENST00000291971.3 + 3 904 c.833C>A c.(832-834)cCc>cAc p.P278H NLRP8_ENST00000590542.1_Missense_Mutation_p.P278H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 278 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ATGTCCAAACCCGACCAACTT 0.517000 9 217 0.0135373 0.0137732 1 1 0 GJA1 2697 broad.mit.edu 37 6 121769060 121769060 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:121769060T>G ENST00000282561.3 + 2 1224 c.1067T>G c.(1066-1068)cTa>cGa p.L356R NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 356 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TTACAGCCACTAGCCATTGTG 0.507000 6 74 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8620604 8620604 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:8620604T>G ENST00000338257.8 - 2 347 c.80A>C c.(79-81)cAg>cCg p.Q27P NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 27 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 TTCGGTGATCTGGGGAAGAAG 0.642000 4 69 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43576076 43576076 + Nonsense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:43576076G>C ENST00000406487.1 - 4 838 c.740C>G c.(739-741)tCa>tGa p.S247* NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 247 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) ATTGGTGTATGAAGGGTGAAT 0.483000 4 228 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11984690 11984690 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:11984690C>T ENST00000356352.2 - 17 3825 c.3352G>A c.(3352-3354)Gat>Aat p.D1118N UPF2_ENST00000397053.2_Missense_Mutation_p.D1118N|UPF2_ENST00000357604.5_Missense_Mutation_p.D1118N Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1118 Interaction with UPF1.|Necessary for interaction with UPF1.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ATCATTTTATCCAGAGCTTGA 0.348000 4 82 0 0 1 0 0 ANAPC16 119504 broad.mit.edu 37 10 73992847 73992847 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:73992847G>T ENST00000299381.4 + 4 424 c.306G>T c.(304-306)ctG>ctT p.L102L ANAPC16_ENST00000470481.2_3'UTR NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3 NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1 Q96DE5 APC16_HUMAN anaphase promoting complex subunit 16 102 cell division|mitosis|protein ubiquitination anaphase-promoting complex|cytoplasm large_intestine(1)|ovary(1) 2 TCGAGCAGCTGCTGGGATTCA 0.537000 4 51 0.00909568 0.00927442 1 1 0 SLC35A4 113829 broad.mit.edu 37 5 139947713 139947713 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:139947713A>G ENST00000514199.1 + 2 2645 c.959A>G c.(958-960)tAc>tGc p.Y320C APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.Y320C Q96G79 S35A4_HUMAN solute carrier family 35, member A4 320 Golgi membrane|integral to membrane sugar:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGCCTGTACTATGGCAGC 0.627000 4 46 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59857824 59857824 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:59857824A>G ENST00000278888.3 + 3 304 c.202A>G c.(202-204)Act>Gct p.T68A NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 68 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) ACAAATTCTGACTGCTATGAT 0.313000 12 185 0 0 1 0 0 PPP1R32 220004 broad.mit.edu 37 11 61254054 61254054 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:61254054G>A ENST00000338608.2 + 9 931 c.806G>A c.(805-807)cGa>cAa p.R269Q PPP1R32_ENST00000432063.2_Missense_Mutation_p.R249Q NM_145017.2 NP_659454.2 Q7Z5V6 CK066_HUMAN protein phosphatase 1, regulatory subunit 32 269 GCCTTCAGCCGAGGGAATGAA 0.577000 4 41 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123220471 123220471 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:123220471C>T ENST00000371160.1 + 30 3418 c.3128C>T c.(3127-3129)tCt>tTt p.S1043F STAG2_ENST00000354548.5_Missense_Mutation_p.S974F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S1043F|STAG2_ENST00000371157.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371144.3_Missense_Mutation_p.S1043F|STAG2_ENST00000371145.3_Missense_Mutation_p.S1043F NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 1043 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CCACTGATGTCTTACCGAAAT 0.428000 6 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061280 9061280 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:9061280T>G ENST00000397910.4 - 3 26369 c.26166A>C c.(26164-26166)gcA>gcC p.A8722A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8724 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 TTCTCTCTGTTGCTGAGCTGG 0.507000 6 73 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39812837 39812837 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:39812837C>T ENST00000216160.6 + 4 428 c.366C>T c.(364-366)gaC>gaT p.D122D TAB1_ENST00000331454.3_Silent_p.D122D NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 122 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 AGTCCATTGACGACGCCTTGG 0.582000 8 75 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51824752 51824752 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:51824752C>T ENST00000371117.3 - 36 6099 c.5824G>A c.(5824-5826)Gat>Aat p.D1942N PKHD1_ENST00000340994.4_Missense_Mutation_p.D1942N NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1942 G8 1. D -> G (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTGTCGCCATCTTGTGGCAGC 0.493000 OREG0017492 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 159 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17053438 17053438 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:17053438A>G ENST00000418129.2 + 2 2687 c.2222A>G c.(2221-2223)gAg>gGg p.E741G PLCL2_ENST00000432376.1_Missense_Mutation_p.E741G|PLCL2_ENST00000396755.2_Missense_Mutation_p.E741G NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 867 C2. 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 TTAACTGGAGAGGTCCTTGCA 0.483000 14 130 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918138 26918138 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:26918138C>T ENST00000539517.2 - 5 868 c.551G>A c.(550-552)gGt>gAt p.G184D NOVA1_ENST00000267422.7_Missense_Mutation_p.G62D|NOVA1_ENST00000465357.2_Missense_Mutation_p.G160D NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 187 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TATTATCAGACCTGCTGTGCT 0.393000 8 144 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171829 104171829 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:104171829G>A ENST00000374861.3 + 3 2021 c.1737G>A c.(1735-1737)gtG>gtA p.V579V ZNF189_ENST00000259395.4_Silent_p.V551V|ZNF189_ENST00000339664.2_Silent_p.V593V NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 593 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) ATGCAGAGGTGAAAACCCAAG 0.428000 5 76 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74231402 74231402 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:74231402G>A ENST00000240285.5 + 3 1275 c.597G>A c.(595-597)ttG>ttA p.L199L RDH10_ENST00000519380.1_Silent_p.L34L|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 199 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) CAAGTTCCTTGGGATTGTTCA 0.398000 8 189 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74580640 74580640 + Splice_Site SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:74580640G>C ENST00000253159.8 + 4 555 c.e4-1 ZNF236_ENST00000583095.1_Splice_Site|ZNF236_ENST00000320610.9_Splice_Site NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TTCTCTTCCAGAATCTCATCT 0.488000 17 161 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454713 6454713 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:6454713C>T ENST00000301454.4 - 5 605 c.499G>A c.(499-501)Gag>Aag p.E167K SLC25A23_ENST00000334510.5_Missense_Mutation_p.E167K NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 167 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 GTCAGGCACTCGCCAATGTCC 0.577000 5 118 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44512948 44512948 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:44512948G>C ENST00000429154.2 + 3 250 c.22G>C c.(22-24)Gtg>Ctg p.V8L ZNF230_ENST00000585632.1_Missense_Mutation_p.V8L NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 8 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) ATAGGAGGCAGTGACCTTCAA 0.522000 6 212 0 0 1 0 0 MRPL39 54148 broad.mit.edu 37 21 26965191 26965191 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr21:26965191T>G ENST00000307301.7 - 8 895 c.854A>C c.(853-855)aAt>aCt p.N285T MRPL39_ENST00000352957.4_Missense_Mutation_p.N285T NM_080794.3 NP_542984 Q9NYK5 RM39_HUMAN mitochondrial ribosomal protein L39 285 mitochondrial ribosome nucleotide binding endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 10 GGGTTGAAGATTGTGAACTGC 0.398000 4 119 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39903608 39903608 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:39903608G>C ENST00000564288.1 + 71 18925 c.18148G>C c.(18148-18150)Gag>Cag p.E6050Q MACF1_ENST00000317713.7_Missense_Mutation_p.E3991Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5949Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3861Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E4493Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3991Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3991Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6087Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6062 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCCATCCTTTGAGGCCTTGAA 0.478000 4 106 0 0 1 0 0 ZNF514 84874 broad.mit.edu 37 2 95815034 95815034 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:95815034G>T ENST00000295208.2 - 5 1658 c.1196C>A c.(1195-1197)aCc>aAc p.T399N ZNF514_ENST00000411425.1_Missense_Mutation_p.T399N|MRPS5_ENST00000475040.1_5'UTR NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 AATTTATAGGGTTTTTTTTCC 0.398000 13 138 9.31168e-06 9.90559e-06 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38130999 38130999 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:38130999G>C ENST00000406386.3 + 9 4911 c.4656G>C c.(4654-4656)gaG>gaC p.E1552D NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1552 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GTGGCTCTGAGAGGCGACCCG 0.687000 OREG0026548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 81 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43708311 43708311 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:43708311G>A ENST00000405312.3 - 2 394 c.157C>T c.(157-159)Cta>Tta p.L53L PSG4_ENST00000433626.2_Silent_p.L53L|PSG4_ENST00000244295.9_Silent_p.L53L NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 53 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TGGACAAGTAGAAGAACATCC 0.458000 14 169 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36570055 36570055 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:36570055A>T ENST00000431169.1 - 19 1791 c.1491T>A c.(1489-1491)aaT>aaA p.N497K AOAH_ENST00000538464.1_Missense_Mutation_p.N219K|AOAH_ENST00000258749.5_Missense_Mutation_p.N497K|AOAH_ENST00000535891.1_Missense_Mutation_p.N465K|AOAH_ENST00000491444.1_5'UTR NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 497 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TGTAGAAAAGATTGAAGTTTG 0.408000 8 64 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90004276 90004276 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:90004276C>G ENST00000428670.3 - 14 2713 c.2257G>C c.(2257-2259)Gag>Cag p.E753Q ATP2B1_ENST00000359142.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E496Q|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E753Q|ATP2B1_ENST00000261173.2_Missense_Mutation_p.E753Q P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 753 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TCTATCCTCTCTTGCTCAATC 0.338000 24 154 0 0 1 0 0 CTTN 2017 broad.mit.edu 37 11 70267647 70267647 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:70267647G>A ENST00000301843.8 + 11 1068 c.862G>A c.(862-864)Gat>Aat p.D288N CTTN_ENST00000376561.3_Intron|CTTN_ENST00000346329.3_Intron|CTTN_ENST00000538675.1_Intron NM_005231.3 NP_005222.2 Q14247 SRC8_HUMAN cortactin 288 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TGTGGGGTTTGATTACAAGGA 0.562000 18 257 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37037819 37037819 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:37037819C>T ENST00000334116.7 - 6 1936 c.1326G>A c.(1324-1326)ggG>ggA p.G442G ZNF529_ENST00000591340.1_Silent_p.G547G NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AAGTAAGATGCCCAACAACAC 0.348000 5 69 0 0 1 0 0 PARP10 84875 broad.mit.edu 37 8 145060236 145060236 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:145060236G>A ENST00000313028.7 - 2 262 c.168C>T c.(166-168)ttC>ttT p.F56F PARP10_ENST00000524918.1_Silent_p.F56F|PARP10_ENST00000533665.1_Intron|PARP10_ENST00000525773.1_Silent_p.F68F NM_032789.3 NP_116178.2 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 56 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2) 27 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CAGGCTCTCTGAAGGTGAGGA 0.632000 8 53 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51705249 51705249 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:51705249T>A ENST00000522124.1 + 19 2075 c.1414T>A c.(1414-1416)Tta>Ata p.L472I SNTG1_ENST00000517473.1_Missense_Mutation_p.L435I|SNTG1_ENST00000518864.1_Missense_Mutation_p.L472I|SNTG1_ENST00000276467.5_Missense_Mutation_p.L435I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 472 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATTTTCTAATTTATTTGCTGT 0.333000 11 170 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422033 64422033 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:64422033G>C ENST00000262043.3 + 16 4889 c.4549G>C c.(4549-4551)Gat>Cat p.D1517H PHF3_ENST00000393387.1_Missense_Mutation_p.D1517H Q92576 PHF3_HUMAN PHD finger protein 3 1517 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GGAAGTAACTGATGGTGAAAA 0.343000 5 71 0 0 1 0 0 GAPVD1 26130 broad.mit.edu 37 9 128086083 128086083 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:128086083C>T ENST00000470056.1 + 9 1899 c.1739C>T c.(1738-1740)tCa>tTa p.S580L GAPVD1_ENST00000297933.6_Missense_Mutation_p.S580L|GAPVD1_ENST00000495955.1_Missense_Mutation_p.S580L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.S559L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.S559L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.S580L|GAPVD1_ENST00000265956.4_Missense_Mutation_p.S580L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.S580L Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 580 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CTAGGTCCTTCAAATCGCTCC 0.418000 5 65 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48824972 48824972 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:48824972G>C ENST00000314191.2 - 25 2988 c.2932C>G c.(2932-2934)Cag>Gag p.Q978E PRKDC_ENST00000338368.3_Missense_Mutation_p.Q978E|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 978 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GCCCTTACCTGATCAACATCA 0.473000 Non-homologous end-joining 5 163 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725254 106725254 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:106725254G>A ENST00000390609.2 - 0 376 TTCATTTGCAGATACAGCGTG 0.522000 7 658 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88577665 88577665 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:88577665C>T ENST00000339673.6 + 2 120 c.21C>T c.(19-21)ctC>ctT p.L7L DMP1_ENST00000282479.7_Silent_p.L7L|RP11-742B18.1_ENST00000506480.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 7 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GCATCCTGCTCATGTTCCTTT 0.388000 6 122 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196118708 196118708 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:196118708C>G ENST00000296328.4 - 5 518 c.444G>C c.(442-444)ttG>ttC p.L148F UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 148 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CTTTATGCATCAAATCAATGG 0.358000 7 93 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111413387 111413387 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:111413387G>C ENST00000535254.1 - 15 1812 c.1745C>G c.(1744-1746)tCt>tGt p.S582C BUB1_ENST00000409311.1_Missense_Mutation_p.S602C|BUB1_ENST00000302759.6_Missense_Mutation_p.S602C NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 602 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TTGTGCAGCAGATGTGAAGTC 0.473000 17 214 0 0 1 0 0 IPO7 10527 broad.mit.edu 37 11 9459667 9459667 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:9459667C>G ENST00000379719.3 + 22 2672 c.2530C>G c.(2530-2532)Ctt>Gtt p.L844V NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 844 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) ACTCTGTGCTCTTATTGATAT 0.313000 9 192 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104170832 104170832 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:104170832A>G ENST00000374861.3 + 3 1024 c.740A>G c.(739-741)aAa>aGa p.K247R ZNF189_ENST00000259395.4_Missense_Mutation_p.K219R|ZNF189_ENST00000339664.2_Missense_Mutation_p.K261R NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 261 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AAACCCCATAAATGTAGTGAC 0.418000 18 254 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9052078 9052078 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:9052078G>A ENST00000382496.5 - 20 3417 c.2752C>T c.(2752-2754)Cgc>Tgc p.R918C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 918 TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 ATGCACTGGCGGGCGCGGACT 0.612000 3 41 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177605138 177605138 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:177605138T>C ENST00000280193.2 - 7 1617 c.1202A>G c.(1201-1203)tAt>tGt p.Y401C RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 401 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TTCTTCACTATATGAAAATCC 0.413000 4 124 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179441726 179441726 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:179441726G>A ENST00000589042.1 - 324 69560 c.69336C>T c.(69334-69336)ttC>ttT p.F23112F TTN_ENST00000591111.1_Silent_p.F21471F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.F14239F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.F14172F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F20544F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.F14047F|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21471 Ig-like 118. 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) CTGAGACCCGGAAGATGTACT 0.443000 15 272 0 0 1 0 0 KRT23 25984 broad.mit.edu 37 17 39084853 39084853 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:39084853C>G ENST00000209718.3 - 5 1067 c.643G>C c.(643-645)Gag>Cag p.E215Q AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.E78Q NM_015515.3 NP_056330.3 Q9C075 K1C23_HUMAN keratin 23 (histone deacetylase inducible) 215 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000301)|Ovarian(249;0.15) TGATGCTTCTCCATTTCCTAT 0.408000 6 145 0 0 1 0 0 VCX 26609 broad.mit.edu 37 X 7811698 7811698 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:7811698G>A ENST00000381059.3 + 3 481 c.262G>A c.(262-264)Gag>Aag p.E88K VCX_ENST00000341408.4_Missense_Mutation_p.E88K NM_013452.2 NP_038480.2 Q9H320 VCX1_HUMAN variable charge, X-linked 88 Glu-rich. chromatin organization|ribosome assembly|spermatogenesis nucleolus chromatin binding NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) CCCTCAGCACGAGCTGCCGCC 0.711000 7 45 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16559112 16559112 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:16559112G>C ENST00000375599.3 - 4 839 c.420C>G c.(418-420)ctC>ctG p.L140L NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 140 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 AGAAGAGGAAGAGGAAGGCAT 0.562000 3 47 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170007446 170007446 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:170007446C>T ENST00000367765.1 - 5 1883 c.382G>A c.(382-384)Gaa>Aaa p.E128K KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E168K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E90K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E124K NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 168 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AATAGTAGTTCTTCCAAGTTA 0.303000 12 107 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60581493 60581493 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:60581493G>A ENST00000406854.1 + 3 1319 c.765G>A c.(763-765)ctG>ctA p.L255L PCNXL4_ENST00000317623.4_Silent_p.L21L|PCNXL4_ENST00000404681.2_Silent_p.L255L|PCNXL4_ENST00000406949.1_Silent_p.L21L pecanex-like 4 (Drosophila) TACCCTTTCTGTGGGCACTTG 0.418000 20 98 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100645223 100645223 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:100645223A>G ENST00000471714.1 - 2 312 c.203T>C c.(202-204)cTg>cCg p.L68P ABI3BP_ENST00000284322.5_Missense_Mutation_p.L68P|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000495063.1_Missense_Mutation_p.L68P Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 68 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GCCATATCCCAGGAGAAGACC 0.458000 4 67 0 0 1 0 0 TIMM50 92609 broad.mit.edu 37 19 39972525 39972525 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:39972525C>T ENST00000314349.4 + 2 553 c.420C>T c.(418-420)gcC>gcT p.A140A TIMM50_ENST00000544017.1_5'UTR|TIMM50_ENST00000607714.1_Silent_p.A37A|TIMM50_ENST00000599794.1_Intron NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 37 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AACCGCAGGCCGCAGAGATCG 0.607000 5 78 0 0 1 0 0 POMK 84197 broad.mit.edu 37 8 42977441 42977441 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:42977441T>C ENST00000331373.5 + 5 729 c.474T>C c.(472-474)agT>agC p.S158S NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 protein-O-mannose kinase 158 GTTCCTTGAGTAACCTGGAAG 0.453000 4 65 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31711653 31711653 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:31711653G>A ENST00000320027.5 - 18 2723 c.2379C>T c.(2377-2379)aaC>aaT p.N793N HSPH1_ENST00000380406.5_Silent_p.N752N|HSPH1_ENST00000380405.4_Silent_p.N749N|HSPH1_ENST00000429785.2_Silent_p.N612N|HSPH1_ENST00000445273.2_Silent_p.N795N NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 793 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CACATGTGTTGTTCAATTCCT 0.358000 4 77 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26918094 26918094 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:26918094C>G ENST00000539517.2 - 5 912 c.595G>C c.(595-597)Gag>Cag p.E199Q NOVA1_ENST00000267422.7_Missense_Mutation_p.E77Q|NOVA1_ENST00000465357.2_Missense_Mutation_p.E175Q NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 202 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) CCTGACTGCTCCATTACAGCC 0.448000 5 128 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111955378 111955378 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:111955378G>C ENST00000218789.5 + 21 2533 c.2036G>C c.(2035-2037)aGa>aCa p.R679T ARHGEF7_ENST00000370623.3_Missense_Mutation_p.R705T|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.R620T|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R695T|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.R620T Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 452 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GAAGAACAGAGAGCCCGCAAA 0.458000 3 53 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723958 7723958 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:7723958G>C ENST00000303635.7 + 9 1558 c.1351G>C c.(1351-1353)Gag>Cag p.E451Q CAMTA1_ENST00000439411.2_Missense_Mutation_p.E451Q NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGGCAGCTCGGAGAGCCTGTC 0.622000 T WWTR1 epitheliod hemangioendothelioma 4 77 0 0 1 0 0 IFIH1 64135 broad.mit.edu 37 2 163130334 163130334 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:163130334G>A ENST00000263642.2 - 12 2820 c.2425C>T c.(2425-2427)Ctc>Ttc p.L809F NM_022168.3 NP_071451.2 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 809 Helicase C-terminal. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 39 TTGGTGACGAGACCATAACGG 0.338000 5 101 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14364830 14364830 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:14364830G>A ENST00000344204.4 + 15 2683 c.2659G>A c.(2659-2661)Gaa>Aaa p.E887K TRIO_ENST00000537187.1_Missense_Mutation_p.E887K|TRIO_ENST00000509967.2_Missense_Mutation_p.E838K NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 887 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GTTTCTTCATGAAAAACAGCA 0.527000 OREG0016458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 106 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19701569 19701569 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr21:19701569A>T ENST00000284885.3 - 15 1730 c.1697T>A c.(1696-1698)cTt>cAt p.L566H NM_002772.2 NP_002763 P98073 ENTK_HUMAN transmembrane protease, serine 15 566 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTGAAAATGAAGTTGTATATT 0.308000 5 53 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627570 43627570 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:43627570C>T ENST00000332857.6 - 4 1145 c.1117G>A c.(1117-1119)Gag>Aag p.E373K NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 GTGTCCTGCTCAGCATCCAAT 0.443000 18 297 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203383646 203383646 + Silent SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:203383646C>A ENST00000374580.4 + 6 1262 c.723C>A c.(721-723)atC>atA p.I241I BMPR2_ENST00000374574.2_Silent_p.I241I NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 241 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 AGAATTTTATCAACGAAAAGA 0.433000 4 139 0.014758 0.0149826 1 1 0 ING3 54556 broad.mit.edu 37 7 120607594 120607594 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:120607594A>T ENST00000315870.5 + 7 596 c.448A>T c.(448-450)Aat>Tat p.N150Y ING3_ENST00000431467.1_Missense_Mutation_p.N135Y NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 150 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) AAGGAAATATAATCCAACTTC 0.303000 9 106 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41323771 41323771 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:41323771A>T ENST00000551295.2 + 7 787 c.670A>T c.(670-672)Agc>Tgc p.S224C CNTN1_ENST00000547849.1_Missense_Mutation_p.S224C|CNTN1_ENST00000547702.1_Missense_Mutation_p.S224C|CNTN1_ENST00000360099.3_Missense_Mutation_p.S224C|CNTN1_ENST00000348761.2_Missense_Mutation_p.S213C|CNTN1_ENST00000347616.1_Missense_Mutation_p.S224C NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 224 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GAGCGTGTTCAGCAAATTCAT 0.378000 6 245 0 0 1 0 0 SNRNP70 6625 broad.mit.edu 37 19 49604707 49604707 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:49604707G>T ENST00000221448.5 + 7 650 c.454G>T c.(454-456)Gaa>Taa p.E152* SNRNP70_ENST00000598441.1_Nonsense_Mutation_p.E152* NM_003089.4 NP_003080.2 P08621 RU17_HUMAN small nuclear ribonucleoprotein 70kDa (U1) 152 RRM. nuclear mRNA splicing, via spliceosome|regulation of RNA splicing nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2) 12 CATCGAGTACGAACACGAGCG 0.612000 4 56 0.150653 0.150977 1 1 0 OR2H1 26716 broad.mit.edu 37 6 29430094 29430094 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:29430094T>A ENST00000377136.1 + 4 1013 c.548T>A c.(547-549)aTt>aAt p.I183N OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.I183N|OR2H1_ENST00000377132.1_Missense_Mutation_p.I183N|OR2H1_ENST00000396792.2_Missense_Mutation_p.I183N|OR2H1_ENST00000377133.1_Missense_Mutation_p.I183N Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CCATCTCTGATTCGACTCTCC 0.498000 8 198 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83851730 83851730 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:83851730G>A ENST00000349129.2 + 24 5766 c.5506G>A c.(5506-5508)Gaa>Aaa p.E1836K DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1827K|DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1817K NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1836 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TGTGTGGAATGAAAGAAGACA 0.368000 12 220 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59860886 59860886 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:59860886T>C ENST00000278888.3 + 5 494 c.392T>C c.(391-393)cTg>cCg p.L131P NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 131 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AGAGGAAGCCTGGGAGCAAAC 0.493000 5 105 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416076 5416076 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:5416076T>C ENST00000341928.2 - 13 2148 c.1808A>G c.(1807-1809)gAt>gGt p.D603G EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D603G|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542146.1_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 603 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GAGGTATCCATCATCATCTAG 0.547000 5 79 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140255359 140255359 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:140255359G>A ENST00000296543.5 + 2 409 c.86G>A c.(85-87)gGa>gAa p.G29E NAA15_ENST00000398947.1_Missense_Mutation_p.G29E NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 29 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TATAGAAATGGATTGAAATTC 0.318000 7 111 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62338505 62338505 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:62338505G>C ENST00000378019.3 - 5 694 c.604C>G c.(604-606)Ctg>Gtg p.L202V EEF1G_ENST00000329251.4_Missense_Mutation_p.L152V|EEF1G_ENST00000532986.1_5'UTR|MIR3654_ENST00000496634.2_3'UTR P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 gamma 152 GST C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCGCCCACCAGAAAAGTCCTC 0.478000 5 137 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124141359 124141359 + Nonsense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:124141359A>T ENST00000378080.2 + 14 2055 c.1852A>T c.(1852-1854)Aag>Tag p.K618* TBC1D31_ENST00000522420.1_Missense_Mutation_p.E619V|TBC1D31_ENST00000327098.5_Missense_Mutation_p.E724V|TBC1D31_ENST00000287380.1_Missense_Mutation_p.E724V|TBC1D31_ENST00000309336.3_Missense_Mutation_p.E724V|TBC1D31_ENST00000521676.1_Missense_Mutation_p.E601V|TBC1D31_ENST00000518805.1_Missense_Mutation_p.E278V TBC1 domain family, member 31 GTTGAAGATGAAGCTTGGTAC 0.383000 6 93 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58978247 58978247 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:58978247G>A ENST00000361050.3 - 1 2177 c.2092C>T c.(2092-2094)Cca>Tca p.P698S NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 698 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GCAGTGCCTGGAACCAAACTC 0.507000 8 108 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310962 178310962 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:178310962C>G ENST00000322434.3 + 5 1735 c.1509C>G c.(1507-1509)ttC>ttG p.F503L ZNF354B_ENST00000522714.1_3'UTR NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACAAAACATTCAGGTGTAACT 0.413000 5 119 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1513857 1513857 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:1513857C>T ENST00000389470.4 - 42 6387 c.6388G>A c.(6388-6390)Gag>Aag p.E2130K INTS1_ENST00000404767.3_Missense_Mutation_p.E1926K Q8N201 INT1_HUMAN integrator complex subunit 1 1926 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CCCTGGTGCTCGCTGCGGAAC 0.677000 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 28 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161600164 161600164 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:161600164G>A ENST00000294800.3 - 2 328 c.55C>T c.(55-57)Cgg>Tgg p.R19W FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R19W|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.R55W|FCGR3B_ENST00000367964.2_Missense_Mutation_p.R19W NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 19 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) TCACCAGTCCGCATGCCAGCT 0.438000 4 45 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407523 1407523 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:1407523T>C ENST00000381524.3 + 5 517 c.331T>C c.(331-333)Tat>Cat p.Y111H CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y111H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.Y111H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y111H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y111H P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 111 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GAAACTGCTTTATCCAAATTC 0.463000 24 318 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77094309 77094309 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:77094309G>A ENST00000328299.3 + 5 884 c.736G>A c.(736-738)Gaa>Aaa p.E246K NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 246 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 ttctAGGACAGAAGGGTATAG 0.358000 3 28 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8633504 8633504 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:8633504G>A ENST00000293845.3 - 7 1121 c.895C>T c.(895-897)Cgg>Tgg p.R299W CCDC42_ENST00000539522.2_Missense_Mutation_p.R225W NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 299 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 ATGTCCGACCGGTCTTGGATA 0.537000 3 55 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13639909 13639909 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:13639909G>C ENST00000011619.3 - 9 1469 c.1411C>G c.(1411-1413)Caa>Gaa p.Q471E RANBP9_ENST00000539980.1_Missense_Mutation_p.Q242E NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 471 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TAACTGTCTTGAGACTTTGGA 0.418000 21 73 0 0 1 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43535728 43535728 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:43535728G>A ENST00000430334.3 - 6 1519 c.1386C>T c.(1384-1386)caC>caT p.H462H PLEKHM1_ENST00000421073.2_Silent_p.H373H|AC091132.1_ENST00000433601.1_RNA NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 462 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) AAGCTATTGGGTGGTCTGAAG 0.527000 4 69 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160914931 160914931 + Nonstop_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:160914931C>G ENST00000368029.3 - 8 1034 c.977G>C c.(976-978)tGa>tCa p.*326S ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 0 signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCTCTGTCTCATCTATAGAA 0.517000 8 72 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237794836 237794836 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:237794836T>A ENST00000366574.2 + 42 6867 c.6550T>A c.(6550-6552)Tcc>Acc p.S2184T RYR2_ENST00000360064.6_Missense_Mutation_p.S2182T|RYR2_ENST00000542537.1_Missense_Mutation_p.S2168T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2184 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGTGGAGAGTCCAAGGTAAC 0.393000 3 24 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20079084 20079084 + Missense_Mutation SNP C C A rs149336675 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:20079084C>A ENST00000351989.3 + 6 1862 c.1433C>A c.(1432-1434)tCc>tAc p.S478Y DGCR8_ENST00000407755.1_Missense_Mutation_p.S478Y|DGCR8_ENST00000383024.2_Missense_Mutation_p.S478Y NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 478 Necessary for heme-binding and pri-miRNA processing. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) CAGGCGGAGTCCGAGAGGCCC 0.473000 15 277 5.35267e-07 5.75967e-07 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31324049 31324049 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:31324049G>A ENST00000269197.5 + 12 4237 c.4237G>A c.(4237-4239)Gtc>Atc p.V1413I NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACACCCGACCGTCGCAATGTT 0.488000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 190 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89462396 89462396 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:89462396T>C ENST00000336596.2 + 10 2093 c.1868T>C c.(1867-1869)aTt>aCt p.I623T EPHA3_ENST00000494014.1_Missense_Mutation_p.I623T NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 623 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AACATATCCATTGATAAAGTT 0.433000 TSP Lung(6;0.00050) 10 180 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57865120 57865120 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:57865120G>A ENST00000391705.3 + 3 345 c.61G>A c.(61-63)Gtg>Atg p.V21M ZNF304_ENST00000598744.1_5'UTR|ZNF304_ENST00000282286.5_Missense_Mutation_p.V21M|ZNF304_ENST00000443917.2_Missense_Mutation_p.V21M NM_020657.2 NP_065708.2 Q9HCX3 ZN304_HUMAN zinc finger protein 304 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GGATGTGTTCGTGTACTTCTC 0.532000 4 74 0 0 1 0 0 CDK12 51755 broad.mit.edu 37 17 37687083 37687083 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:37687083C>T ENST00000447079.4 + 14 4020 c.3987C>T c.(3985-3987)tcC>tcT p.S1329S CDK12_ENST00000430627.2_Silent_p.S1320S NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1329 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 TGGAGTACTCCACCCGACCCC 0.557000 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 92 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31133898 31133898 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:31133898C>G ENST00000452305.1 - 9 3012 c.2449G>C c.(2449-2451)Gag>Cag p.E817Q ZNF438_ENST00000436087.2_Missense_Mutation_p.E827Q|ZNF438_ENST00000413025.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000331737.6_Missense_Mutation_p.E817Q|ZNF438_ENST00000444692.2_Missense_Mutation_p.E817Q|ZNF438_ENST00000442986.1_Missense_Mutation_p.E827Q|ZNF438_ENST00000538351.2_Missense_Mutation_p.E778Q|ZNF438_ENST00000375311.1_Missense_Mutation_p.E391Q|ZNF438_ENST00000361310.3_Missense_Mutation_p.E827Q NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E827K(1)|p.E827Q(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCTCATTTCTCAGCTTCACTG 0.512000 9 190 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552080 100552080 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:100552080C>G ENST00000319509.7 + 1 831 c.831C>G c.(829-831)tcC>tcG p.S277S mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ATGTGGGCTCCGCTTCTATCA 0.473000 10 440 0 0 1 0 0 CDC73 79577 broad.mit.edu 37 1 193117044 193117044 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:193117044A>G ENST00000367435.3 + 8 961 c.777A>G c.(775-777)agA>agG p.R259R NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 259 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 TAAAAGCCAGAGAAGAAGGGC 0.353000 3 37 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458386 155458386 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:155458386T>A ENST00000461783.3 + 7 2543 c.1270T>A c.(1270-1272)Tcc>Acc p.S424T TIAM2_ENST00000360366.4_Missense_Mutation_p.S424T|TIAM2_ENST00000529824.2_Missense_Mutation_p.S424T|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.S424T|TIAM2_ENST00000318981.5_Missense_Mutation_p.S424T Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 424 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GCAGGGATCCTCCCAGGCATC 0.542000 6 91 0 0 1 0 0 HEY1 23462 broad.mit.edu 37 8 80679518 80679518 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:80679518G>A ENST00000337919.5 - 2 294 c.101C>T c.(100-102)tCg>tTg p.S34L HEY1_ENST00000354724.3_Missense_Mutation_p.S34L NM_001040708.1 NP_001035798.1 Q9Y5J3 HEY1_HUMAN hes-related family bHLH transcription factor with YRPW motif 1 34 angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding HEY1/NCOA2(10) cervix(1)|kidney(2)|large_intestine(5)|lung(14) 22 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) ACCTAGAGCCGAACTCAAGTT 0.453000 T NCOA2 mesenchymal chondrosarcoma 14 211 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20200324 20200324 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:20200324C>T ENST00000395530.2 + 11 2956 c.2748C>T c.(2746-2748)ttC>ttT p.F916F SPECC1_ENST00000395527.4_Silent_p.F997F|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.F997F|SPECC1_ENST00000536879.1_Silent_p.F337F NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 997 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GCCTGGCCTTCTGTGCTCTGC 0.498000 5 39 0 0 1 0 0 RNF167 26001 broad.mit.edu 37 17 4848226 4848226 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:4848226C>A ENST00000262482.6 + 10 1624 c.968C>A c.(967-969)tCc>tAc p.S323Y RNF167_ENST00000575111.1_Missense_Mutation_p.S323Y|RNF167_ENST00000571816.1_Missense_Mutation_p.S323Y|RNF167_ENST00000576229.1_Missense_Mutation_p.S288Y|RNF167_ENST00000572430.1_Missense_Mutation_p.S323Y NM_015528.1 NP_056343.1 Q9H6Y7 RN167_HUMAN ring finger protein 167 323 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(1) 4 TCCTTTGGTTCCTTAGCCCCA 0.577000 9 174 1.58986e-06 1.69901e-06 1 1 0 ZNF638 27332 broad.mit.edu 37 2 71592810 71592810 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:71592810G>A ENST00000409544.1 + 6 2599 c.1969G>A c.(1969-1971)Gat>Aat p.D657N ZNF638_ENST00000264447.4_Missense_Mutation_p.D657N|ZNF638_ENST00000377802.2_Missense_Mutation_p.D657N|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.D657N NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 657 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 ACAGGTGTCTGATAAAGCTGT 0.368000 6 56 0 0 1 0 0 LOC283683 283683 broad.mit.edu 37 15 23108867 23108867 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:23108867A>G ENST00000557922.1 - 0 262 NR_040057.1 TCTTTGTTCCACTTGGTTCGA 0.403000 4 69 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18390764 18390764 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:18390764C>T ENST00000338745.6 - 11 3924 c.2190G>A c.(2188-2190)gaG>gaA p.E730E TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.E762E|SATB1_ENST00000454909.2_Silent_p.E730E NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 730 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTTGGACACTCTCTTCCAAAT 0.408000 28 237 0 0 1 0 0 PCK1 5105 broad.mit.edu 37 20 56140584 56140584 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:56140584A>G ENST00000319441.4 + 10 1757 c.1593A>G c.(1591-1593)ggA>ggG p.G531G PCK1_ENST00000543666.1_Silent_p.G214G NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 531 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CAGGCTTTGGAGAGAACTCCA 0.557000 9 51 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24916415 24916415 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:24916415C>T ENST00000413389.2 + 7 2241 c.648C>T c.(646-648)tgC>tgT p.C216C UPB1_ENST00000326010.5_Silent_p.C284C|UPB1_ENST00000498140.1_3'UTR Q9UBR1 BUP1_HUMAN ureidopropionase, beta 284 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GCTTCACCTGCGCCATCAATC 0.612000 6 45 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27056181 27056181 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:27056181C>T ENST00000324856.7 + 2 1548 c.1177C>T c.(1177-1179)Cag>Tag p.Q393* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q393*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q10* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 393 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q393*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GATGAGACCTCAGCCATATGG 0.527000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 15 117 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79650642 79650642 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:79650642T>A ENST00000275034.4 - 40 5401 c.5234A>T c.(5233-5235)aAg>aTg p.K1745M PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1745 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) ATCATCTATCTTTTTTCGGTT 0.413000 13 270 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158534303 158534303 + Silent SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:158534303T>A ENST00000251527.5 - 17 2225 c.2160A>T c.(2158-2160)tcA>tcT p.S720S ESYT2_ENST00000435514.2_Silent_p.S155S NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 748 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GCTCCTTGACTGAGATGTGGC 0.647000 6 59 0 0 1 0 0 ZNF587 84914 broad.mit.edu 37 19 58367545 58367545 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:58367545A>T ENST00000339656.5 + 2 289 c.107A>T c.(106-108)cAg>cTg p.Q36L ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35L|ZNF587B_ENST00000316462.4_3'UTR|ZNF587_ENST00000419854.1_5'UTR|ZNF814_ENST00000597342.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36L|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 36 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) AGTGAGGCTCAGAGGTGCTTG 0.493000 12 109 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113775272 113775272 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:113775272C>G ENST00000295878.3 - 1 188 c.42G>C c.(40-42)agG>agC p.R14S KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 14 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 TCAGCCCCATCCTTTTCTTTG 0.607000 18 182 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53615408 53615408 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:53615408C>T ENST00000342160.3 - 36 5005 c.4548G>A c.(4546-4548)caG>caA p.Q1516Q HUWE1_ENST00000218328.8_Silent_p.Q1516Q|HUWE1_ENST00000262854.6_Silent_p.Q1516Q Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1516 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTGTGGCCATCTGACTTATCC 0.438000 4 20 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65197273 65197273 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:65197273C>G ENST00000358691.5 - 7 567 c.401G>C c.(400-402)aGa>aCa p.R134T HELZ_ENST00000580168.1_Missense_Mutation_p.R134T|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGTTTTTAGTCTTGTCAAATC 0.338000 OREG0024677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 130 0 0 1 0 0 HINT2 84681 broad.mit.edu 37 9 35813690 35813690 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:35813690C>T ENST00000259667.5 - 2 214 c.173G>A c.(172-174)cGg>cAg p.R58Q HINT2_ENST00000474908.1_5'UTR NM_032593.2 NP_115982.1 Q9BX68 HINT2_HUMAN histidine triad nucleotide binding protein 2 58 HIT. apoptosis|steroid biosynthetic process mitochondrion hydrolase activity NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 7 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GTCCAGGATCCGGGAGAAGAT 0.572000 OREG0019179 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 28 0 0 1 0 0 PAX4 5078 broad.mit.edu 37 7 127254980 127254980 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:127254980C>T ENST00000341640.2 - 2 495 c.290G>A c.(289-291)cGc>cAc p.R97H PAX4_ENST00000463946.1_Missense_Mutation_p.R95H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000378740.2_Missense_Mutation_p.R97H NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 105 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 ACAAAGCTGGCGTTGGATTTC 0.592000 7 71 0 0 1 0 0 ZNF611 81856 broad.mit.edu 37 19 53209385 53209385 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:53209385A>C ENST00000543227.1 - 6 1197 c.923T>G c.(922-924)cTt>cGt p.L308R ZNF611_ENST00000453741.2_Missense_Mutation_p.L239R|ZNF611_ENST00000602162.1_Missense_Mutation_p.L239R|ZNF611_ENST00000595798.1_Missense_Mutation_p.L239R|ZNF611_ENST00000319783.1_Missense_Mutation_p.L308R|ZNF611_ENST00000540744.1_Missense_Mutation_p.L308R NM_001161499.1 NP_001154971.1 Q8N823 ZN611_HUMAN zinc finger protein 611 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCCAGTATGAAGTCTACGATG 0.408000 7 230 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100667250 100667250 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:100667250T>C ENST00000375119.3 - 5 1167 c.1091A>G c.(1090-1092)tAt>tGt p.Y364C NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 364 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) TGACTGAAAATATTTAAATGA 0.443000 12 75 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121658028 121658028 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:121658028C>G ENST00000369075.3 + 2 325 c.253C>G c.(253-255)Cag>Gag p.Q85E SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 85 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) TTACTTCTCTCAGGTATCAAG 0.468000 16 148 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25349873 25349873 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:25349873G>A ENST00000546682.1 + 0 2343 SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TCTGTGAACTGAGGTCAAGCA 0.453000 6 63 0 0 1 0 0 DHRS2 10202 broad.mit.edu 37 14 24108426 24108426 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:24108426G>A ENST00000250383.6 + 3 655 c.179G>A c.(178-180)gGg>gAg p.G60E DHRS2_ENST00000344777.7_Missense_Mutation_p.G60E|DHRS2_ENST00000553896.1_3'UTR NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 38 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GCCCGGGACGGGGCCCACGTG 0.647000 32 147 0 0 1 0 0 SNHG7 84973 broad.mit.edu 37 9 139620605 139620605 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:139620605G>A ENST00000414282.1 - 0 451 SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000362567.2_RNA CCCGAGCACTGAGTGTAGAAA 0.542000 12 85 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109617198 109617198 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:109617198T>C ENST00000356711.2 + 20 2377 c.2251T>C c.(2251-2253)Ttt>Ctt p.F751L MYO16_ENST00000357550.2_Missense_Mutation_p.F751L|MYO16_ENST00000457511.2_Missense_Mutation_p.F263L|MYO16_ENST00000251041.5_Missense_Mutation_p.F751L NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 751 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTTGTTTAGCTTTTTGGTGAA 0.398000 15 134 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532951 42532951 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:42532951G>A ENST00000282030.5 + 4 3942 c.3646G>A c.(3646-3648)Gaa>Aaa p.E1216K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1216 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCAGCACAGCGAAGCCGGCCA 0.542000 Schinzel-Giedion syndrome 7 68 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27059368 27059368 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:27059368G>T ENST00000261191.7 - 16 2484 c.1948C>A c.(1948-1950)Cca>Aca p.P650T ASUN_ENST00000539625.1_Missense_Mutation_p.P549T NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 650 cell division|mitosis|regulation of mitotic cell cycle protein binding AACGACACTGGCCCTAGTGTT 0.318000 5 137 3.59834e-05 3.78474e-05 1 1 0 YWHAQ 10971 broad.mit.edu 37 2 9731542 9731542 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:9731542C>T ENST00000381844.4 - 2 560 c.397G>A c.(397-399)Gcg>Acg p.A133T YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.A133T P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 133 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) TCACCACACGCAACTTCAGCA 0.348000 8 94 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65860683 65860683 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:65860683A>G ENST00000395325.3 + 13 1992 c.1835A>G c.(1834-1836)cAg>cGg p.Q612R DNAJC6_ENST00000263441.7_Missense_Mutation_p.Q599R|DNAJC6_ENST00000371069.4_Missense_Mutation_p.Q669R NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 612 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 CCCTTTCTCCAGCCAACAAGA 0.438000 13 213 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968034 4968034 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrY:4968034T>A ENST00000333703.4 + 5 2895 c.2382T>A c.(2380-2382)aaT>aaA p.N794K PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805K|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805K NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 805 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TGTTCGTGAATGAGTCAGTGA 0.423000 11 68 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47931385 47931385 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr21:47931385G>A ENST00000318711.7 + 8 1146 c.963G>A c.(961-963)ctG>ctA p.L321L DIP2A_ENST00000427143.2_Silent_p.L256L|DIP2A_ENST00000457905.3_Silent_p.L320L|DIP2A_ENST00000400274.1_Silent_p.L316L|DIP2A_ENST00000466639.1_Silent_p.L277L|DIP2A_ENST00000435722.3_Silent_p.L320L|DIP2A_ENST00000417564.2_Silent_p.L320L NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 320 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CGAGTGTGCTGAGAGGGGAGC 0.552000 4 32 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44664045 44664045 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:44664045C>T ENST00000222673.5 + 2 145 c.103C>T c.(103-105)Caa>Taa p.Q35* OGDH_ENST00000443864.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000444676.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000439616.2_Nonsense_Mutation_p.Q35*|OGDH_ENST00000447398.1_Nonsense_Mutation_p.Q35*|OGDH_ENST00000449767.1_Nonsense_Mutation_p.Q35* NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 35 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.Q35K(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TAGGACATTTCAACAGATTCG 0.468000 8 220 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302638 161302638 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:161302638A>C ENST00000428797.2 + 7 904 c.549A>C c.(547-549)aaA>aaC p.K183N GABRA1_ENST00000393943.4_Missense_Mutation_p.K183N|GABRA1_ENST00000437025.2_Missense_Mutation_p.K183N|GABRA1_ENST00000444819.1_Missense_Mutation_p.K183N|GABRA1_ENST00000023897.6_Missense_Mutation_p.K183N|GABRA1_ENST00000420560.1_Missense_Mutation_p.K183N NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 183 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCCCACTAAAATTTGGAAGTT 0.398000 7 107 0 0 1 0 0 TMC1 117531 broad.mit.edu 37 9 75387378 75387378 + Missense_Mutation SNP G G A rs147147941 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:75387378G>A ENST00000297784.5 + 13 1331 c.791G>A c.(790-792)cGa>cAa p.R264Q TMC1_ENST00000340019.3_Missense_Mutation_p.R264Q|TMC1_ENST00000396237.3_Missense_Mutation_p.R264Q NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 264 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GACAATAAACGAACAATTGGA 0.408000 32 216 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54338863 54338863 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:54338863G>A ENST00000243056.3 + 2 972 c.816G>A c.(814-816)ctG>ctA p.L272L NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 272 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 AGGTGCAGCTGAAGGAGCTAG 0.612000 T NUP98 AML 12 137 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73462856 73462856 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:73462856G>A ENST00000252034.7 + 15 1168 c.769G>A c.(769-771)Gca>Aca p.A257T ELN_ENST00000458204.1_Missense_Mutation_p.A247T|ELN_ENST00000357036.5_Missense_Mutation_p.A262T|ELN_ENST00000380576.5_Missense_Mutation_p.A257T|ELN_ENST00000358929.4_Missense_Mutation_p.A257T|ELN_ENST00000380584.4_Missense_Mutation_p.A243T|ELN_ENST00000429192.1_Missense_Mutation_p.A262T|ELN_ENST00000414324.1_Missense_Mutation_p.A252T|ELN_ENST00000445912.1_Missense_Mutation_p.A257T|ELN_ENST00000380553.4_Missense_Mutation_p.A140T|ELN_ENST00000380575.4_Missense_Mutation_p.A247T|ELN_ENST00000320399.6_Missense_Mutation_p.A257T|ELN_ENST00000380562.4_Missense_Mutation_p.A257T|ELN_ENST00000320492.7_Missense_Mutation_p.A221T NM_000501.2|NM_001278915.1 NP_000492.2|NP_001265844.1 P15502 ELN_HUMAN elastin 257 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) Ggcagcagcagcagcggcagc 0.612000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 8 115 0 0 1 0 0 GBAP1 2630 broad.mit.edu 37 1 155188254 155188254 + RNA SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:155188254G>A ENST00000486869.1 - 0 112 NR_002188.2 TACCCTACCCGAAGGCTTGGG 0.552000 9 125 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967685 21967685 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:21967685C>T ENST00000298717.4 - 8 1554 c.1403G>A c.(1402-1404)cGg>cAg p.R468Q NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 468 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) ACGGCCTGTCCGAATGATGCG 0.448000 17 163 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103176 168103176 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:168103176G>A ENST00000409195.1 + 9 5363 c.5274G>A c.(5272-5274)ctG>ctA p.L1758L XIRP2_ENST00000409273.1_Silent_p.L1536L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1758L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1583 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 TGGATTATCTGAAACAACTCC 0.378000 4 65 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153296 5153296 + Missense_Mutation SNP C C T rs142969856 byFrequency TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:5153296C>T ENST00000307388.1 - 1 576 c.577G>A c.(577-579)Gaa>Aaa p.E193K NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E193K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CGGATATCTTCAGTAGCCAGC 0.403000 7 126 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122301 39122301 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:39122301C>T ENST00000216044.5 + 8 1490 c.1257C>T c.(1255-1257)ggC>ggT p.G419G GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 419 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CACTGAGAGGCCTGATCAAGC 0.582000 4 42 0 0 1 0 0 SFPQ 6421 broad.mit.edu 37 1 35656390 35656390 + Silent SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:35656390T>A ENST00000357214.5 - 3 1322 c.1224A>T c.(1222-1224)ggA>ggT p.G408G NM_005066.2 NP_005057.1 P23246 SFPQ_HUMAN splicing factor proline/glutamine-rich 408 RRM 2. alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|nucleotide binding|protein binding|RNA binding SFPQ/TFE3(6) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) CTGTAGATCTTCCACGATCAT 0.413000 T TFE3 papillary renal cell 5 113 0 0 1 0 0 SEMA6A 57556 broad.mit.edu 37 5 115815870 115815870 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:115815870C>T ENST00000343348.6 - 12 1985 c.1198G>A c.(1198-1200)Gag>Aag p.E400K SEMA6A_ENST00000257414.8_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.E400K|CTB-118N6.3_ENST00000510682.1_RNA NM_020796.3 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 400 Sema. apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGCACTGCCTCATCCATGAGC 0.498000 5 103 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34770228 34770228 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:34770228C>G ENST00000338074.2 + 6 686 c.525C>G c.(523-525)ttC>ttG p.F175L EPB41L1_ENST00000373946.3_Missense_Mutation_p.F144L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.F113L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.F175L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.F78L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.F113L NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 175 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CAGTCAAGTTCTACCCGCCTG 0.572000 7 105 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457692 45457692 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:45457692G>C ENST00000548424.1 + 0 448 TATGGACTCTGAGCCACTCTC 0.483000 6 79 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174794 63174794 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:63174794G>T ENST00000322893.7 - 11 2667 c.2399C>A c.(2398-2400)cCa>cAa p.P800Q KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 800 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CATTCTTATTGGGCTGTTGAC 0.438000 8 187 0.000157383 0.000164425 1 1 0 VGLL2 245806 broad.mit.edu 37 6 117589356 117589356 + Nonsense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:117589356T>A ENST00000326274.5 + 2 283 c.93T>A c.(91-93)taT>taA p.Y31* VGLL2_ENST00000352536.3_Nonsense_Mutation_p.Y31* NM_182645.3 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 31 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) AACTAGCCTATTATTCCAAAA 0.473000 12 293 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43173108 43173108 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:43173108C>T ENST00000252050.4 + 24 4824 c.4740C>T c.(4738-4740)ccC>ccT p.P1580P CUL9_ENST00000372647.2_Silent_p.P1580P|CUL9_ENST00000354495.3_Silent_p.P1470P NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1580 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 ACCTGGAACCCATTATGGTCC 0.547000 13 250 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37037818 37037818 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:37037818G>T ENST00000334116.7 - 6 1937 c.1327C>A c.(1327-1329)Cat>Aat p.H443N ZNF529_ENST00000591340.1_Missense_Mutation_p.H548N NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) CAAGTAAGATGCCCAACAACA 0.343000 5 70 1.23904e-05 1.30912e-05 1 1 0 CDH3 1001 broad.mit.edu 37 16 68712041 68712041 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:68712041G>C ENST00000264012.4 + 4 795 c.251G>C c.(250-252)aGa>aCa p.R84T CDH3_ENST00000581171.1_Missense_Mutation_p.R29T|CDH3_ENST00000429102.2_Missense_Mutation_p.R84T NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 84 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TTGCAGGAAAGAAGGTCACTG 0.458000 4 46 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117201 47117201 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:47117201C>G ENST00000562435.1 - 9 1893 c.1509G>C c.(1507-1509)gaG>gaC p.E503D NETO2_ENST00000303155.5_Missense_Mutation_p.E496D NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 503 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) CACAGGGAATCTCCTCCATTA 0.428000 HNSCC(25;0.065) 5 130 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141532 29141532 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:29141532G>A ENST00000377167.2 + 1 222 c.120G>A c.(118-120)ctG>ctA p.L40L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 TGATGACACTGACAGGAAACC 0.423000 23 185 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37474713 37474713 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:37474713C>G ENST00000002125.4 + 9 1091 c.1051C>G c.(1051-1053)Ctg>Gtg p.L351V NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L253V NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 AGTAGCCTCTCTGGGCCCAAT 0.383000 5 80 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405061 89405061 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:89405061A>G ENST00000532352.1 + 0 1001 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 CTAGACAGATATGTCATTCTG 0.413000 4 158 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164758786 164758786 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:164758786T>A ENST00000264382.3 - 18 2163 c.2101A>T c.(2101-2103)Act>Tct p.T701S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 701 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAAACAGAGTGTAGAGGAAG 0.358000 HNSCC(35;0.089) 8 176 0 0 1 0 0 RBM4B 83759 broad.mit.edu 37 11 66436698 66436698 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:66436698C>G ENST00000525754.1 - 2 1145 c.477G>C c.(475-477)caG>caC p.Q159H RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q159H Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 159 circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 AGCAGCCACTCTGGTCTCCCA 0.498000 3 85 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117878849 117878849 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:117878849G>A ENST00000297338.2 - 2 407 c.120C>T c.(118-120)agC>agT p.S40S RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 40 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TACTCTCCACGCTGCTCTCTA 0.388000 4 102 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538057 27538057 + RNA SNP G G A rs148958496 by1000genomes TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:27538057G>A ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA TGCAGAGTCTGAACCTGGTCT 0.507000 7 208 0 0 1 0 0 FAM129B 64855 broad.mit.edu 37 9 130341208 130341208 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:130341208C>T ENST00000373314.3 - 1 60 c.9G>A c.(7-9)tgG>tgA p.W3* NM_001035534.1 NP_001030611.1 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 0 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 TACCTCCCATCCACCCCATCC 0.537000 5 201 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256547 140256547 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:140256547G>A ENST00000398631.2 + 1 1490 c.1490G>A c.(1489-1491)cGg>cAg p.R497Q PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGGTGGGC 0.672000 11 119 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122130285 122130285 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:122130285C>A ENST00000334010.7 - 11 2123 c.1702G>T c.(1702-1704)Gta>Tta p.V568L CADPS2_ENST00000449022.2_Missense_Mutation_p.V568L|CADPS2_ENST00000412584.2_Missense_Mutation_p.V568L|CADPS2_ENST00000313070.7_Missense_Mutation_p.V568L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 568 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 GCAAAGATTACAGTATCTCCT 0.383000 8 121 0.00307968 0.0031609 1 1 0 KCNK3 3777 broad.mit.edu 37 2 26916025 26916025 + Splice_Site SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:26916025C>T ENST00000302909.3 + 1 407 c.282C>T c.(280-282)atC>atT p.I94I NM_002246.2 NP_002237.1 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 94 synaptic transmission integral to plasma membrane endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCACCACCATCGGTAACGGCT 0.751000 5 52 0 0 1 0 0 PNISR 25957 broad.mit.edu 37 6 99850548 99850548 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:99850548C>T ENST00000369239.5 - 11 1399 c.1195G>A c.(1195-1197)Gag>Aag p.E399K PNISR_ENST00000438806.1_Missense_Mutation_p.E399K NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 399 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 TCACTCCTCTCATCTTCACTG 0.398000 5 167 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858342 9858342 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:9858342G>T ENST00000396573.2 - 14 3368 c.3059C>A c.(3058-3060)tCc>tAc p.S1020Y GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1020Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S863Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1020 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) CTGGCGTATGGAATCCACGGA 0.532000 10 142 0.000673444 0.000698885 1 1 0 SLC22A3 6581 broad.mit.edu 37 6 160819069 160819069 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:160819069T>C ENST00000392145.1 + 2 515 c.488T>C c.(487-489)cTc>cCc p.L163P SLC22A3_ENST00000275300.2_Missense_Mutation_p.L163P O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 163 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ATCCTGAACCTCGGCTTCCTG 0.463000 4 123 0 0 1 0 0 CAMTA2 23125 broad.mit.edu 37 17 4875528 4875528 + Splice_Site SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:4875528G>A ENST00000361571.5 - 15 3215 c.2804C>T c.(2803-2805)cCg>cTg p.P935L CAMTA2_ENST00000381311.5_Splice_Site_p.P938L|CAMTA2_ENST00000358183.4_Splice_Site_p.P936L|CAMTA2_ENST00000348066.3_Splice_Site_p.P936L|CAMTA2_ENST00000414043.3_Splice_Site_p.P959L|CAMTA2_ENST00000572543.1_Splice_Site_p.P941L NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 936 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 AAGCAGTACCGGGATCACATC 0.562000 4 77 0 0 1 0 0 ZNF321P 399669 broad.mit.edu 37 19 53432648 53432648 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:53432648C>T ENST00000391777.3 - 4 331 c.210G>A c.(208-210)atG>atA p.M70I ZNF816-ZNF321P_ENST00000313956.4_RNA|ZNF816_ENST00000549216.1_Start_Codon_SNP_p.M1I|ZNF816_ENST00000434371.2_Missense_Mutation_p.M70I endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 ACTCCTTCATCATGCATTTGG 0.348000 16 208 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107216267 107216267 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:107216267C>T ENST00000273980.5 - 4 697 c.250G>A c.(250-252)Gaa>Aaa p.E84K TBCK_ENST00000394708.2_Missense_Mutation_p.E84K|TBCK_ENST00000361687.4_Missense_Mutation_p.E84K|TBCK_ENST00000432496.2_Missense_Mutation_p.E84K|TBCK_ENST00000394706.3_Missense_Mutation_p.E84K Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 GGTTTCCTTTCTCGAAGCAAG 0.378000 6 173 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55994180 55994180 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:55994180C>T ENST00000391718.2 + 3 2173 c.1608C>T c.(1606-1608)tgC>tgT p.C536C ZNF628_ENST00000598519.1_Silent_p.C540C NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 536 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) CCTACGCCTGCGGGGAGTGTG 0.687000 12 50 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49227663 49227663 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:49227663T>G ENST00000340334.7 - 3 503 c.135A>C c.(133-135)gcA>gcC p.A45A FOLH1_ENST00000533034.1_Silent_p.A45A|FOLH1_ENST00000356696.3_Silent_p.A60A|FOLH1_ENST00000256999.2_Silent_p.A60A|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 60 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) CATCCAAAAATGCTTTCATAT 0.323000 5 122 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31963874 31963874 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:31963874G>C ENST00000428956.2 + 26 3457 c.3373G>C c.(3373-3375)Gac>Cac p.D1125H C4A_ENST00000498271.1_Missense_Mutation_p.D1125H NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) TCCAGTGTTAGACAGGAGCAT 0.607000 13 141 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16641726 16641726 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:16641726G>A ENST00000375592.3 - 2 404 c.188C>T c.(187-189)tCa>tTa p.S63L FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 63 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) CTGATACGGTGAGAGAAAGGA 0.463000 16 85 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29095920 29095920 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:29095920T>A ENST00000544772.1 - 10 1687 c.251A>T c.(250-252)gAa>gTa p.E84V CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.E214V|CHEK2_ENST00000348295.3_Missense_Mutation_p.E305V|CHEK2_ENST00000403642.1_Missense_Mutation_p.E214V|CHEK2_ENST00000328354.6_Missense_Mutation_p.E305V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.E305V|CHEK2_ENST00000382566.1_Silent_p.G284G|CHEK2_ENST00000382580.2_Missense_Mutation_p.E348V|CHEK2_ENST00000404276.1_Missense_Mutation_p.E305V|CHEK2_ENST00000402731.1_Missense_Mutation_p.E305V NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 305 cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CTCTCCCCCTTCCATCCTGAA 0.443000 F breast Direct reversal of damage;Other conserved DNA damage response genes 12 288 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156746102 156746102 + Nonsense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:156746102A>T ENST00000470811.1 + 13 2002 c.667A>T c.(667-669)Aag>Tag p.K223* LEKR1_ENST00000356539.4_Nonsense_Mutation_p.K527* D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 108 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AAACTTGAGGAAGGAAATGGA 0.373000 4 38 0 0 1 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725481 106725481 + RNA SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:106725481A>G ENST00000390609.2 - 0 149 CCCAGACTCCAACAGCTGCAC 0.542000 9 357 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56525269 56525269 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:56525269C>T ENST00000394048.5 + 6 987 c.723C>T c.(721-723)ggC>ggT p.G241G ESYT1_ENST00000267113.4_Silent_p.G241G|ESYT1_ENST00000541590.1_Silent_p.G241G NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 241 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGCTACATGGCGTTTTGCGGG 0.517000 11 291 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27002138 27002138 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:27002138A>G ENST00000314616.6 + 5 779 c.496A>G c.(496-498)Atg>Gtg p.M166V SUPT6H_ENST00000347486.4_Missense_Mutation_p.M166V NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 166 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) GGAGGCCCCCATGGCTCCTCC 0.527000 9 79 0 0 1 0 0 APMAP 57136 broad.mit.edu 37 20 24950942 24950942 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:24950942C>G ENST00000217456.2 - 6 894 c.604G>C c.(604-606)Gat>Cat p.D202H APMAP_ENST00000447138.1_Missense_Mutation_p.D202H NM_020531.2 NP_065392.1 adipocyte plasma membrane associated protein ACTGTAAGATCATTCACAAAG 0.443000 7 174 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819769 43819769 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:43819769T>C ENST00000382031.1 + 5 6843 c.6812T>C c.(6811-6813)tTc>tCc p.F2271S MAP1A_ENST00000300231.5_Missense_Mutation_p.F2033S|MAP1A_ENST00000399453.1_Missense_Mutation_p.F2033S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2033 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACTCCAACCTTCAGCTATGCA 0.607000 9 107 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8989600 8989600 + Splice_Site SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:8989600T>A ENST00000344836.4 - 27 3018 c.e27-2 USP7_ENST00000381886.4_Splice_Site|USP7_ENST00000535863.1_Splice_Site NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCTAGCAGCCTGAACAGAGAG 0.318000 3 51 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975467 118975467 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:118975467G>A ENST00000296499.5 + 2 805 c.402G>A c.(400-402)gaG>gaA p.E134E NDST3_ENST00000433996.2_Silent_p.E134E NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 134 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TTATTTATGAGAATATTTTAA 0.348000 4 50 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97823529 97823529 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:97823529C>T ENST00000297293.5 + 11 4045 c.3752C>T c.(3751-3753)tCc>tTc p.S1251F NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1251 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TCCAGCCACTCCGAGGGCCCG 0.612000 7 32 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866339 39866339 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:39866339C>G ENST00000314471.6 + 7 1752 c.717C>G c.(715-717)ctC>ctG p.L239L SAMD4B_ENST00000598913.1_Silent_p.L239L|SAMD4B_ENST00000596368.1_Silent_p.L239L NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 239 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCATGTCACTCATCCCTACAA 0.612000 8 301 0 0 1 0 0 CLINT1 9685 broad.mit.edu 37 5 157240233 157240233 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:157240233C>G ENST00000523094.1 - 5 506 c.301G>C c.(301-303)Gag>Cag p.E101Q CLINT1_ENST00000411809.2_Missense_Mutation_p.E119Q|CLINT1_ENST00000530742.1_Missense_Mutation_p.E101Q|CLINT1_ENST00000523908.1_Missense_Mutation_p.E119Q|CLINT1_ENST00000296951.5_Missense_Mutation_p.E101Q NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 119 ENTH. endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTACCATGCTCATCTATGAGG 0.363000 9 54 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2695596 2695596 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:2695596C>T ENST00000324666.5 + 14 2565 c.2214C>T c.(2212-2214)gtC>gtT p.V738V FAM193A_ENST00000505311.1_Silent_p.V738V|FAM193A_ENST00000502458.1_Silent_p.V760V|FAM193A_ENST00000382839.3_Silent_p.V738V|FAM193A_ENST00000545951.1_Silent_p.V738V NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 738 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CTCCAAGTGTCTGCAGGTGAG 0.567000 4 74 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29161444 29161444 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:29161444G>C ENST00000321990.4 + 2 723 c.345G>C c.(343-345)aaG>aaC p.K115N CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 115 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) AGAAAAGAAAGAGGGTTAATT 0.323000 6 180 0 0 1 0 0 DUSP15 128853 broad.mit.edu 37 20 30450395 30450395 + Silent SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:30450395A>G ENST00000278979.3 - 6 481 c.405T>C c.(403-405)ttT>ttC p.F135F DUSP15_ENST00000398084.2_Silent_p.F35F|DUSP15_ENST00000398083.1_Silent_p.F35F|DUSP15_ENST00000375966.4_Silent_p.F135F|DUSP15_ENST00000486996.1_Silent_p.F35F|DUSP15_ENST00000339738.5_Silent_p.F138F Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 135 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGGCCCAGCCAAACTCTTCAA 0.607000 5 95 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858759 9858759 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:9858759T>G ENST00000396573.2 - 14 2951 c.2642A>C c.(2641-2643)aAg>aCg p.K881T GRIN2A_ENST00000562109.1_Missense_Mutation_p.K881T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K881T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K881T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K724T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 881 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) GTCTGGAGACTTCTTCTTTTC 0.468000 5 117 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18390769 18390769 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:18390769C>T ENST00000338745.6 - 11 3919 c.2185G>A c.(2185-2187)Gaa>Aaa p.E729K TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.E761K|SATB1_ENST00000454909.2_Missense_Mutation_p.E729K NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 729 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 ACACTCTCTTCCAAATCCTTC 0.418000 30 235 0 0 1 0 0 TMEM205 374882 broad.mit.edu 37 19 11456266 11456266 + Silent SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:11456266C>G ENST00000354882.5 - 1 456 c.30G>C c.(28-30)ctG>ctC p.L10L TMEM205_ENST00000447337.1_Silent_p.L10L|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000593256.2_Silent_p.L10L|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Silent_p.L10L|TMEM205_ENST00000586956.1_Silent_p.L10L|TMEM205_ENST00000588560.1_Silent_p.L10L|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000587948.1_Silent_p.L10L|TMEM205_ENST00000586590.1_Silent_p.L10L Q6UW68 TM205_HUMAN transmembrane protein 205 10 integral to membrane endometrium(1)|lung(1) 2 CCATCTTAATCAGGCCTCCTA 0.567000 4 46 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149901560 149901560 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:149901560G>C ENST00000439741.2 - 16 2146 c.1896C>G c.(1894-1896)atC>atG p.I632M MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.I560M|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 632 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) TCCAGAGCCTGATCTGGGGTC 0.587000 4 172 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043187 71043187 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:71043187C>T ENST00000272367.2 - 4 1402 c.1326G>A c.(1324-1326)caG>caA p.Q442Q CLEC4F_ENST00000426626.1_Silent_p.Q442Q NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 442 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TCAGGCGACTCTGCTCCTGCT 0.522000 5 70 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101624450 101624450 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:101624450C>G ENST00000409318.1 - 20 3431 c.3301G>C c.(3301-3303)Gaa>Caa p.E1101Q RPL31_ENST00000409038.1_Intron|RPL31_ENST00000409650.1_Intron|TBC1D8_ENST00000376840.4_Missense_Mutation_p.E1086Q|RPL31_ENST00000409028.4_Intron NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 1086 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 AAAATATGTTCAAGGGAGACA 0.463000 4 73 0 0 1 0 0 RPL30 6156 broad.mit.edu 37 8 99057291 99057291 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:99057291G>C ENST00000521291.1 - 2 193 c.47C>G c.(46-48)tCt>tGt p.S16C RPL30_ENST00000523172.1_Intron|RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000287038.3_Missense_Mutation_p.S16C|RPL30_ENST00000396070.2_Missense_Mutation_p.S16C P62888 RL30_HUMAN ribosomal protein L30 16 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(2)|lung(4)|skin(1) 7 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.192) TTGGAGCCTAGAGTTGATCGA 0.478000 7 321 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40843809 40843809 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:40843809A>G ENST00000254691.5 + 2 1038 c.839A>G c.(838-840)gAa>gGa p.E280G CARD6_ENST00000381677.3_Missense_Mutation_p.E280G NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 280 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 AAAAGTATAGAAGGTATGGAA 0.398000 4 28 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112357176 112357176 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:112357176A>T ENST00000206423.3 - 2 2530 c.1577T>A c.(1576-1578)gTg>gAg p.V526E CCDC80_ENST00000439685.2_Missense_Mutation_p.V526E NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 526 Lys-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AACATTCCCCACCTGCAGCTC 0.448000 4 65 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695907 196695907 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:196695907T>C ENST00000367429.4 + 14 2313 c.2073T>C c.(2071-2073)tgT>tgC p.C691C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 691 Sushi 12. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 AGAGTACCTGTGGAGATATAC 0.343000 5 72 0 0 1 0 0 PTS 5805 broad.mit.edu 37 11 112104239 112104239 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:112104239C>T ENST00000280362.3 + 6 478 c.399C>T c.(397-399)taC>taT p.Y133Y PTS_ENST00000525803.1_3'UTR|PTS_ENST00000524931.1_Silent_p.Y65Y NM_000317.2 NP_000308.1 Q03393 PTPS_HUMAN 6-pyruvoyltetrahydropterin synthase 133 cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process mitochondrion 6-pyruvoyltetrahydropterin synthase activity|metal ion binding breast(1)|large_intestine(1) 2 all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519) TAAAAGTATACGAAACTGACA 0.333000 4 77 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21721898 21721898 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:21721898A>G ENST00000261195.2 - 5 978 c.724T>C c.(724-726)Tac>Cac p.Y242H NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 242 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.Y242N(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCCATGCAGTACCGGTGGTAA 0.438000 8 109 0 0 1 0 0 PABPC1 26986 broad.mit.edu 37 8 101717853 101717853 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:101717853C>T ENST00000318607.5 - 12 2779 c.1651G>A c.(1651-1653)Gca>Aca p.A551T PABPC1_ENST00000519004.1_Missense_Mutation_p.A506T|PABPC1_ENST00000522387.1_Missense_Mutation_p.A519T NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 551 PABC. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GGGGCAGATGCCAACATGGAA 0.423000 22 44 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25144925 25144925 + Silent SNP G G A rs146639297 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr22:25144925G>A ENST00000332271.5 - 12 1814 c.1398C>T c.(1396-1398)tcC>tcT p.S466S PIWIL3_ENST00000527701.1_Silent_p.S357S|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.S357S NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 466 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTCCCGGGACGGACAAAAAAT 0.358000 8 127 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156563378 156563378 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:156563378G>A ENST00000368233.3 + 5 722 c.695G>A c.(694-696)aGa>aAa p.R232K APOA1BP_ENST00000368235.3_Intron|APOA1BP_ENST00000368234.3_Intron Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 229 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGTGGGGGAGATTGGGGCCC 0.572000 8 34 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21454134 21454134 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:21454134A>T ENST00000307378.6 - 8 1379 c.659T>A c.(658-660)gTt>gAt p.V220D SLCO1A2_ENST00000458504.1_Missense_Mutation_p.V88D|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.V220D|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.V218D|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.V88D NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 220 V -> I (in a colorectal cancer sample; somatic mutation). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GTCAACATAAACATTTGCACA 0.313000 15 105 0 0 1 0 0 LILRA6 79168 broad.mit.edu 37 19 54744750 54744750 + Silent SNP G G A rs140883375 by1000genomes TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:54744750G>A ENST00000440558.2 - 5 960 c.912C>T c.(910-912)tcC>tcT p.S304S LILRA6_ENST00000396365.2_Silent_p.S304S|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Silent_p.S304S|LILRA6_ENST00000245621.5_Silent_p.S304S leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCGACCACTCGGAGGAGAGGT 0.687000 12 108 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46890667 46890667 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:46890667T>C ENST00000378623.1 - 32 4951 c.4709A>G c.(4708-4710)tAc>tGc p.Y1570C LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1570 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTCTGTCCAGTAGATCCACCT 0.483000 5 32 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:178928079G>A ENST00000263967.3 + 8 1514 c.1357G>A c.(1357-1359)Gaa>Aaa p.E453K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 138 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56485124 56485124 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:56485124G>C ENST00000291971.3 + 7 2712 c.2641G>C c.(2641-2643)Gat>Cat p.D881H NLRP8_ENST00000590542.1_Missense_Mutation_p.D862H NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 881 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CGCCTTGAAAGATGAAGGGGC 0.502000 9 165 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715925 101715925 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:101715925T>A ENST00000342239.3 - 4 1397 c.1306A>T c.(1306-1308)Agc>Tgc p.S436C DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.S436C Q6XZF7 DNMBP_HUMAN dynamin binding protein 436 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TGCGGGTGGCTCCCTCCCACT 0.488000 6 136 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956521 143956521 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:143956521A>G ENST00000292427.4 - 8 1282 c.1250T>C c.(1249-1251)tTc>tCc p.F417S CYP11B1_ENST00000377675.3_Missense_Mutation_p.F488S|CYP11B1_ENST00000517471.1_Intron NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 417 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AGGCCTCGGGAACAAGGCGGG 0.627000 Familial Hyperaldosteronism type I 5 101 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509750 71509750 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:71509750C>G ENST00000396073.3 + 9 2888 c.2607C>G c.(2605-2607)agC>agG p.S869R ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 869 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) TTCACCTAAGCCAGAGAGGCT 0.478000 8 91 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128620040 128620040 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:128620040C>T ENST00000393245.1 - 15 2380 c.2007G>A c.(2005-2007)caG>caA p.Q669Q TNPO3_ENST00000471234.1_Silent_p.Q571Q|TNPO3_ENST00000482320.1_Silent_p.Q569Q|TNPO3_ENST00000265388.5_Silent_p.Q635Q|TNPO3_ENST00000471166.1_Silent_p.Q669Q NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 635 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 GTATGACTTTCTGACACGGAT 0.438000 6 70 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645939 70645939 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:70645939G>C ENST00000298596.6 + 3 2470 c.2387G>C c.(2386-2388)aGa>aCa p.R796T STOX1_ENST00000399169.4_Missense_Mutation_p.R796T|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R686T|STOX1_ENST00000399165.4_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 796 cytoplasm|nucleolus DNA binding p.R796I(1) breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 GTGCTTAAAAGAAATGAATGC 0.473000 7 81 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967059 81967059 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:81967059C>G ENST00000282701.2 + 2 804 c.484C>G c.(484-486)Cag>Gag p.Q162E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 162 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GAAACACATTCAGATTGATCT 0.453000 6 121 0 0 1 0 0 PTPRH 5794 broad.mit.edu 37 19 55693510 55693510 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:55693510C>T ENST00000376350.3 - 19 3094 c.3072G>A c.(3070-3072)gtG>gtA p.V1024V PTPRH_ENST00000263434.5_Silent_p.V846V NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1024 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTGTGCGACCCACGCCAGCAC 0.587000 5 90 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161300307 161300307 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:161300307G>T ENST00000428797.2 + 6 795 c.440G>T c.(439-441)cGg>cTg p.R147L GABRA1_ENST00000393943.4_Missense_Mutation_p.R147L|GABRA1_ENST00000437025.2_Missense_Mutation_p.R147L|GABRA1_ENST00000444819.1_Missense_Mutation_p.R147L|GABRA1_ENST00000023897.6_Missense_Mutation_p.R147L|GABRA1_ENST00000420560.1_Missense_Mutation_p.R147L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 147 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) AAACTCCTGCGGATCACAGAG 0.468000 5 40 0.000602214 0.000626357 1 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140772493 140772493 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:140772493A>T ENST00000398604.2 + 1 113 c.113A>T c.(112-114)gAg>gTg p.E38V PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCCAGAAGAGACGGACAAA 0.622000 5 58 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55051509 55051509 + Splice_Site SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:55051509G>A ENST00000371316.3 + 3 325 c.243G>A c.(241-243)gcG>gcA p.A81A ACOT11_ENST00000343744.2_Splice_Site_p.A81A|ACOT11_ENST00000481208.1_Intron NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 81 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 TGACACCAGCGGAGAGGCACG 0.587000 4 52 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66460432 66460432 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:66460432C>G ENST00000404260.3 + 29 5742 c.5434C>G c.(5434-5436)Ctc>Gtc p.L1812V MAST4_ENST00000261569.7_Missense_Mutation_p.L1615V|MAST4_ENST00000403666.1_Missense_Mutation_p.L1620V|MAST4_ENST00000403625.2_Missense_Mutation_p.L1809V|MAST4_ENST00000405643.1_Missense_Mutation_p.L1630V O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1812 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GGACATTGCTCTCCTGTCCGG 0.597000 10 104 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180805846 180805846 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:180805846C>G ENST00000367590.4 + 11 1693 c.1495C>G c.(1495-1497)Cac>Gac p.H499D XPR1_ENST00000367589.3_Intron NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 499 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 TTACAGCACTCACAAAGGTAT 0.393000 7 135 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170884925 170884925 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:170884925T>A ENST00000436636.2 - 10 1252 c.908A>T c.(907-909)aAg>aTg p.K303M TNIK_ENST00000284483.8_Missense_Mutation_p.K303M|TNIK_ENST00000475336.1_Missense_Mutation_p.K303M|TNIK_ENST00000538048.1_Missense_Mutation_p.K303M|TNIK_ENST00000357327.5_Missense_Mutation_p.K303M|TNIK_ENST00000341852.6_Missense_Mutation_p.K303M|TNIK_ENST00000488470.1_Missense_Mutation_p.K303M|TNIK_ENST00000470834.1_Missense_Mutation_p.K303M|TNIK_ENST00000369326.5_Missense_Mutation_p.K303M|TNIK_ENST00000460047.1_Missense_Mutation_p.K303M NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 303 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AATATGGTCCTTGAGTTGAAT 0.433000 4 44 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886177 57886177 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:57886177G>A ENST00000302610.1 - 1 739 c.740C>T c.(739-741)gCt>gTt p.A247V OR9Q1_ENST00000335397.3_Intron NM_001005211.1 NP_001005211.1 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) AAGGGCCACAGCAGTGATGTG 0.463000 5 72 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10102505 10102505 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:10102505C>T ENST00000380861.4 + 19 3023 c.2632C>T c.(2632-2634)Ctg>Ttg p.L878L WWC3_ENST00000454666.1_Silent_p.L878L NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 878 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 AGATCTCTTTCTGGAAGAAGC 0.522000 15 127 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677422 149677422 + Silent SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:149677422C>A ENST00000328668.7 - 2 1644 c.1065G>T c.(1063-1065)gtG>gtT p.V355V NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 355 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGCCAGACCCACCAGGGTCG 0.652000 10 61 7.48243e-07 8.01444e-07 1 1 0 RECK 8434 broad.mit.edu 37 9 36083430 36083430 + Missense_Mutation SNP C C G rs1046658 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:36083430C>G ENST00000377966.3 + 8 1074 c.508C>G c.(508-510)Cga>Gga p.R170G RECK_ENST00000479053.1_3'UTR NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 170 5 X Knot repeats. anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) AGCCATTTTTCGAACAGACTC 0.408000 6 163 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39764056 39764056 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:39764056G>A ENST00000395670.3 - 2 471 c.52C>T c.(52-54)Cca>Tca p.P18S KIF21A_ENST00000544797.2_Missense_Mutation_p.P18S|KIF21A_ENST00000541463.2_Missense_Mutation_p.P18S|KIF21A_ENST00000361961.3_Missense_Mutation_p.P18S|KIF21A_ENST00000361418.5_Missense_Mutation_p.P18S Q7Z4S6 KI21A_HUMAN kinesin family member 21A 18 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) GCAAGCTGTGGTCTTATTCTG 0.348000 5 126 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138706964 138706964 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:138706964G>C ENST00000389532.4 - 16 4549 c.4485C>G c.(4483-4485)ccC>ccG p.P1495P CAMSAP1_ENST00000409386.3_Silent_p.P1506P|CAMSAP1_ENST00000312405.6_Silent_p.P1217P|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1495 CKK. cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) AATTCTTGTGGGGTTCGTTCA 0.378000 6 16 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19337520 19337520 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:19337520C>T ENST00000252575.6 + 7 1397 c.1298C>T c.(1297-1299)cCt>cTt p.P433L NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AGCCCTACCCCTGGGGACCCC 0.617000 6 38 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176694604 176694604 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:176694604C>A ENST00000439151.2 + 15 5233 c.5188C>A c.(5188-5190)Cat>Aat p.H1730N NSD1_ENST00000361032.4_Missense_Mutation_p.H1627N|NSD1_ENST00000347982.4_Missense_Mutation_p.H1461N|NSD1_ENST00000354179.4_Missense_Mutation_p.H1461N NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1730 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TGCTGCTTTTCATCGTGAATG 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 6 178 3.59834e-05 3.78474e-05 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7667517 7667517 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:7667517G>A ENST00000572933.1 + 20 4722 c.3262G>A c.(3262-3264)Gtg>Atg p.V1088M DNAH2_ENST00000389173.2_Missense_Mutation_p.V1088M Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1088 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTTGGCCAACGTGGAGACTCA 0.557000 16 101 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394686 154394686 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:154394686A>G ENST00000435029.4 + 1 1427 c.1267A>G c.(1267-1269)Aca>Gca p.T423A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 423 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GATCATTTTGACAGAGCAAGT 0.473000 5 118 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215345383 215345383 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:215345383T>C ENST00000444842.2 + 5 830 c.680T>C c.(679-681)aTc>aCc p.I227T KCNK2_ENST00000391895.2_Missense_Mutation_p.I223T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I212T NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 227 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) ATCTCAACAATCATATTTATA 0.403000 5 96 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118812031 118812031 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:118812031G>A ENST00000378204.2 - 11 2967 c.2161C>T c.(2161-2163)Cag>Tag p.Q721* NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 721 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) AGCCTCATCTGAGAGTGGATC 0.547000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 4 127 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047483 11047483 + RNA SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr21:11047483T>C ENST00000470054.1 - 0 771 B melanoma antigen family, member 2 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) CAACTTACTTTGCATTTCCAG 0.333000 11 282 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1635658 1635658 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:1635658G>A ENST00000409644.1 + 5 4197 c.4197G>A c.(4195-4197)gtG>gtA p.V1399V WDR81_ENST00000309182.5_Silent_p.V348V|WDR81_ENST00000419248.1_Silent_p.V172V|WDR81_ENST00000446363.1_Silent_p.V38V|WDR81_ENST00000437219.2_Silent_p.V196V|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Silent_p.V30V NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 172 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCCTGTGTGTGAAAACCATCA 0.587000 6 93 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121434223 121434223 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:121434223T>A ENST00000275159.6 - 29 3276 c.3277A>T c.(3277-3279)Ata>Tta p.I1093L TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000398212.2_Missense_Mutation_p.I1052L TBC1 domain family, member 32 GAAGATTTTATGGAAGTTTGC 0.318000 5 119 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57325137 57325137 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:57325137T>G ENST00000326441.9 - 10 5036 c.4673A>C c.(4672-4674)cAa>cCa p.Q1558P PEG3_ENST00000423103.2_Missense_Mutation_p.Q1558P|PEG3_ENST00000593695.1_Missense_Mutation_p.Q1432P|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q1434P|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 1558 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCATCAGCTTGATTGGCACC 0.527000 13 90 0 0 1 0 0 ZNF556 80032 broad.mit.edu 37 19 2877544 2877544 + Silent SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:2877544T>G ENST00000586426.1 + 4 672 c.585T>G c.(583-585)acT>acG p.T195T ZNF556_ENST00000307635.2_Silent_p.T196T Q9HAH1 ZN556_HUMAN zinc finger protein 556 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) ATGAGAAAACTCACAGTGGAG 0.448000 6 88 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699032 49699032 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:49699032T>G ENST00000303221.5 - 6 1072 c.857A>C c.(856-858)cAa>cCa p.Q286P EMB_ENST00000508934.1_Missense_Mutation_p.Q232P|EMB_ENST00000514111.1_Missense_Mutation_p.Q236P NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 286 integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CTTTTTCTTTTGTGTGTACTT 0.338000 5 97 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114751217 114751217 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:114751217C>T ENST00000334062.7 - 23 2419 c.2298G>A c.(2296-2298)tcG>tcA p.S766S RASA3_ENST00000389544.4_Silent_p.S734S NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 766 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) TGACGAACGTCGAATACTCCT 0.622000 4 98 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725738 140725738 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:140725738C>T ENST00000253812.6 + 1 2138 c.2138C>T c.(2137-2139)gCg>gTg p.A713V PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGCTGCTGGCGCTCAGGCTG 0.682000 11 188 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141328311 141328311 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:141328311G>A ENST00000286364.3 + 22 2310 c.2275G>A c.(2275-2277)Gaa>Aaa p.E759K RASA2_ENST00000452898.1_Missense_Mutation_p.E760K|RASA2_ENST00000509118.1_3'UTR Q15283 RASA2_HUMAN RAS p21 protein activator 2 759 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity p.E759K(1) NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 CAGAGAAACAGAAAGAATTTA 0.279000 9 89 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71002416 71002416 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:71002416C>T ENST00000396396.1 + 4 838 c.609C>T c.(607-609)ctC>ctT p.L203L PGM5_ENST00000396392.1_Silent_p.L203L|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 203 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ATCTTAACCTCCTTCGGACCA 0.438000 7 168 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371710 55371710 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:55371710A>T ENST00000302231.4 - 1 164 c.140T>A c.(139-141)aTc>aAc p.I47N NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GCTGGACTTGATGGTCACAAT 0.398000 4 48 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58275806 58275806 + Splice_Site SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:58275806C>T ENST00000300896.4 - 27 3444 c.e27-1 USP32_ENST00000592339.1_Splice_Site NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTGTCCTCATCTGTATGTACA 0.443000 9 93 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152555860 152555860 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:152555860T>C ENST00000367255.5 - 111 21073 c.20472A>G c.(20470-20472)caA>caG p.Q6824Q SYNE1_ENST00000265368.4_Silent_p.Q6824Q|SYNE1_ENST00000448038.1_Silent_p.Q6753Q|SYNE1_ENST00000356820.4_Silent_p.Q1348Q|SYNE1_ENST00000341594.5_Silent_p.Q6436Q|SYNE1_ENST00000423061.1_Silent_p.Q6753Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6824 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGTCACAGATTGCTGAGTCC 0.388000 HNSCC(10;0.0054) 11 187 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36863230 36863230 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:36863230C>G ENST00000325718.7 + 2 228 c.137C>G c.(136-138)aCg>aGg p.T46R MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.T46R NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 46 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CAGGTGCCAACGGGACCCTGG 0.612000 T MLL AL 3 54 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782178 134782178 + Missense_Mutation SNP C C A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:134782178C>A ENST00000503143.2 - 1 860 c.621G>T c.(619-621)ttG>ttT p.L207F TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 207 Ser-rich. nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATAGTGATATCAAGTGCGAAG 0.557000 8 51 0.00307968 0.0031609 1 1 0 MYCBPAP 84073 broad.mit.edu 37 17 48593987 48593987 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:48593987G>T ENST00000323776.5 + 2 424 c.262G>T c.(262-264)Gaa>Taa p.E88* MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.E51* NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 51 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GGAAGAGCCTGAACCTGTTAG 0.468000 5 52 0.00116845 0.00120722 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31241670 31241670 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:31241670T>A ENST00000269197.5 + 5 446 c.446T>A c.(445-447)tTc>tAc p.F149Y NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GTGTCTTCCTTCCAGCAGCAC 0.413000 4 25 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153661707 153661707 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:153661707G>A ENST00000368680.3 + 17 3080 c.2608G>A c.(2608-2610)Gaa>Aaa p.E870K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 870 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGTGCAGGCCGAAGCCTTTGA 0.602000 4 120 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 35 250 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196659332 196659332 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:196659332G>A ENST00000367429.4 + 9 1539 c.1299G>A c.(1297-1299)gaG>gaA p.E433E CFH_ENST00000359637.2_Silent_p.E369E|CFH_ENST00000439155.2_Silent_p.E433E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 433 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CATGTATGGAGAATGGCTGGT 0.433000 7 60 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93220240 93220240 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:93220240G>C ENST00000446394.1 + 3 425 c.325G>C c.(325-327)Gat>Cat p.D109H HECTD2_ENST00000298068.5_Missense_Mutation_p.D109H|HECTD2_ENST00000371681.4_Missense_Mutation_p.D109H NM_001284274.1 NP_001271203.1 Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 109 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TACATCTATGGATGCATCATC 0.378000 6 172 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110125115 110125115 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:110125115A>C ENST00000369851.4 + 5 628 c.518A>C c.(517-519)gAt>gCt p.D173A NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 173 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) ACTCAGCAAGATGTTCTTCGG 0.378000 4 120 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345491 28345491 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:28345491G>A ENST00000337532.5 - 17 1745 c.1469C>T c.(1468-1470)tCa>tTa p.S490L MPP7_ENST00000540098.1_Missense_Mutation_p.S490L|MPP7_ENST00000375719.3_Missense_Mutation_p.S490L|MPP7_ENST00000375732.1_Missense_Mutation_p.S490L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 490 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 ACGCTCTATTGATGGAGGCTT 0.353000 14 149 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065702 9065702 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:9065702C>T ENST00000397910.4 - 3 21947 c.21744G>A c.(21742-21744)ttG>ttA p.L7248L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7250 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 CTGTCTCCCTCAATTTAGGGC 0.493000 8 202 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179429057 179429057 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:179429057C>G ENST00000589042.1 - 326 82026 c.81802G>C c.(81802-81804)Gat>Cat p.D27268H TTN_ENST00000591111.1_Missense_Mutation_p.D25627H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18395H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18328H|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24700H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D18203H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25627 Fibronectin type-III 98. 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) TCAATTTCATCTCTTGCAGTA 0.398000 11 95 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21541245 21541245 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:21541245C>T ENST00000298694.4 + 2 172 c.45C>T c.(43-45)gcC>gcT p.A15A ARHGEF40_ENST00000298693.3_Silent_p.A15A Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 15 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 GCACTCTCGCCGCCCTGTATC 0.597000 5 77 0 0 1 0 0 FAM76B 143684 broad.mit.edu 37 11 95512827 95512827 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:95512827C>G ENST00000358780.5 - 7 948 c.636G>C c.(634-636)caG>caC p.Q212H FAM76B_ENST00000536839.1_Missense_Mutation_p.Q212H NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 212 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGTTTCATTCTGAATTGTTG 0.318000 5 115 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71211775 71211775 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:71211775G>C ENST00000457410.1 + 6 975 c.836G>C c.(835-837)aGa>aCa p.R279T ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000360589.3_Missense_Mutation_p.R313T|ANKRD53_ENST00000272421.6_3'UTR|AC007040.11_ENST00000606025.1_Intron Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 313 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 GCTGCTATCAGAAAGTGGCTC 0.572000 OREG0014687 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 92 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118968638 118968638 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:118968638G>A ENST00000409993.2 - 8 2395 c.844C>T c.(844-846)Cag>Tag p.Q282* DPAGT1_ENST00000432443.2_Nonsense_Mutation_p.Q175*|DPAGT1_ENST00000354202.4_Nonsense_Mutation_p.Q282* Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 282 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 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) TTGAACACCTGGGGCATGAAG 0.527000 7 96 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457166 110457166 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:110457166G>T ENST00000378402.5 + 38 5172 c.5068G>T c.(5068-5070)Ggt>Tgt p.G1690C NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1690 IPT/TIG 9. 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) TTCTTCTGCAGGTGTAAAAGT 0.443000 HNSCC(38;0.096) 7 162 8.12818e-05 8.5109e-05 1 1 0 RAPGEF1 2889 broad.mit.edu 37 9 134501394 134501394 + Silent SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:134501394G>C ENST00000372195.1 - 10 1860 c.1617C>G c.(1615-1617)gtC>gtG p.V539V RAPGEF1_ENST00000372190.3_Silent_p.V540V|RAPGEF1_ENST00000372189.3_Silent_p.V522V Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 522 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) CCACAAATTCGACAGGGGCTG 0.542000 8 40 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93285476 93285476 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:93285476G>C ENST00000322349.8 - 2 310 c.46C>G c.(46-48)Caa>Gaa p.Q16E EEA1_ENST00000547833.1_5'UTR NM_003566.3 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1 16 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TCAGAACCTTGAGAGCCAACT 0.353000 5 133 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63185416 63185416 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:63185416G>C ENST00000449996.3 + 10 730 c.658G>C c.(658-660)Gtt>Ctt p.V220L RGS9_ENST00000262406.9_Missense_Mutation_p.V223L|RGS9_ENST00000443584.3_Missense_Mutation_p.V220L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 223 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ACAAACAGTCGTTGCTGTCAA 0.353000 13 173 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215901489 215901489 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:215901489C>T ENST00000366943.2 - 61 12335 c.11949G>A c.(11947-11949)ttG>ttA p.L3983L USH2A_ENST00000307340.3_Silent_p.L3983L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3983 Fibronectin type-III 25. 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) TTGTCCAATTCAACAGAACTG 0.498000 HNSCC(13;0.011) 4 139 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144759951 144759951 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:144759951G>A ENST00000367545.3 + 11 1312 c.1312G>A c.(1312-1314)Gag>Aag p.E438K NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 438 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AACACTCACAGAGGAGCGCAT 0.463000 6 56 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170047 90170047 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:90170047T>C ENST00000609438.1 - 2 1733 c.1215A>G c.(1213-1215)caA>caG p.Q405Q GPRIN3_ENST00000333209.4_Silent_p.Q405Q NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TATTTTCCCGTTGGAAAGCTG 0.527000 8 137 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17902480 17902480 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:17902480G>C ENST00000448223.2 - 10 1044 c.775C>G c.(775-777)Caa>Gaa p.Q259E SMC6_ENST00000402989.1_Missense_Mutation_p.Q259E|SMC6_ENST00000351948.4_Missense_Mutation_p.Q259E|SMC6_ENST00000381272.4_Missense_Mutation_p.Q285E NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 259 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCAATACTTTGAAAACGTTCC 0.343000 5 92 0 0 1 0 0 GPR110 266977 broad.mit.edu 37 6 46977694 46977694 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:46977694C>T ENST00000371253.2 - 11 1692 c.1477G>A c.(1477-1479)Gtt>Att p.V493I GPR110_ENST00000283297.5_Missense_Mutation_p.V296I|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 493 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTTTTGGAAACGGGTAGAATG 0.413000 12 123 0 0 1 0 0 FCGR3B 2215 broad.mit.edu 37 1 161596035 161596035 + Silent SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:161596035A>T ENST00000294800.3 - 4 750 c.477T>A c.(475-477)atT>atA p.I159I FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Silent_p.I195I|FCGR3B_ENST00000367964.2_Silent_p.I159I NM_001244753.1|NM_001271035.1 NP_001231682.1|NP_001257964.1 O75015 FCG3B_HUMAN Fc fragment of IgG, low affinity IIIb, receptor (CD16b) 159 Ig-like C2-type 2. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) 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) TGGCTTTTGGAATGTGGAAGT 0.438000 6 54 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16641730 16641730 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:16641730G>A ENST00000375592.3 - 2 400 c.184C>T c.(184-186)Ctc>Ttc p.L62F FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 62 F-box. autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) TACGGTGAGAGAAAGGACAGG 0.463000 16 87 0 0 1 0 0 GLIPR1L2 144321 broad.mit.edu 37 12 75807384 75807384 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:75807384T>C ENST00000550916.1 + 3 534 c.487T>C c.(487-489)Tgg>Cgg p.W163R GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.W163R|GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.W56R|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.W98R|GLIPR1L2_ENST00000435775.1_Intron NM_001270396.1 NP_001257325.1 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 163 integral to membrane kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 16 TTAGCTTGTTTGGGACCACTC 0.294000 10 203 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58846430 58846430 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:58846430A>T ENST00000329665.4 + 2 409 c.262A>T c.(262-264)Ata>Tta p.I88L NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 88 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) CAAGGAGCAGATACTGGAGCT 0.662000 5 61 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71802308 71802308 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:71802308T>C ENST00000373545.3 - 31 3750 c.3312A>G c.(3310-3312)ggA>ggG p.G1104G PHKA1_ENST00000373539.3_Silent_p.G1163G|PHKA1_ENST00000541944.1_Silent_p.G1074G|PHKA1_ENST00000373542.4_Silent_p.G1146G|PHKA1_ENST00000339490.3_Silent_p.G1133G P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1146 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CAATGATGCTTCCGATGCTAT 0.433000 4 42 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21201467 21201467 + Missense_Mutation SNP A A C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:21201467A>C ENST00000274695.4 + 15 1677 c.1510A>C c.(1510-1512)Aaa>Caa p.K504Q CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K504Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K413Q NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 504 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) CTCCATCAGCAAACCGCTAGC 0.473000 4 135 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 34 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169159 32169159 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:32169159C>T ENST00000375023.3 - 22 4012 c.3874G>A c.(3874-3876)Gag>Aag p.E1292K NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1292 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 GGCCCCCACTCTGGGTCCCCA 0.637000 4 34 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24494686 24494686 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:24494686C>T ENST00000355123.4 - 19 2649 c.2206G>A c.(2206-2208)Gag>Aag p.E736K ITSN2_ENST00000406921.3_Missense_Mutation_p.E736K|ITSN2_ENST00000361999.3_Missense_Mutation_p.E709K NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 736 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) tgtttctcctcagctttccgt 0.353000 9 112 0 0 1 0 0 SLC4A1AP 22950 broad.mit.edu 37 2 27892155 27892155 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:27892155G>A ENST00000326019.6 + 5 1528 c.1246G>A c.(1246-1248)Gag>Aag p.E416K NM_018158.2 NP_060628.2 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), member 1, adaptor protein 416 cytoplasm|nucleus double-stranded RNA binding|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.155) ACTGGTGGCTGAGGCCATTCA 0.438000 25 258 0 0 1 0 0 MRPL22 29093 broad.mit.edu 37 5 154346277 154346277 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:154346277G>A ENST00000523037.1 + 7 482 c.441G>A c.(439-441)ctG>ctA p.L147L MRPL22_ENST00000439747.3_Silent_p.L173L|MRPL22_ENST00000265229.8_Silent_p.L67L|MRPL22_ENST00000518364.1_3'UTR|MRPL22_ENST00000522038.1_Silent_p.L153L NM_014180.3 NP_054899.2 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 147 translation large ribosomal subunit|mitochondrion structural constituent of ribosome central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCAGTGCCTGAAACGCATCC 0.493000 6 101 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10348136 10348136 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:10348136T>A ENST00000255381.2 - 38 5657 c.5547A>T c.(5545-5547)agA>agT p.R1849S RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1849 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle 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 CCTTCACTCTTCTCTCATGTT 0.423000 8 108 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95571561 95571561 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:95571561G>C ENST00000526495.1 - 22 3407 c.3116C>G c.(3115-3117)gCt>gGt p.A1039G DICER1_ENST00000343455.3_Missense_Mutation_p.A1039G|DICER1_ENST00000527414.1_Missense_Mutation_p.A1039G|DICER1_ENST00000541352.1_Missense_Mutation_p.A1039G|DICER1_ENST00000393063.1_Missense_Mutation_p.A1039G|DICER1_ENST00000556045.1_5'UTR Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1039 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TGGATGTATAGCACAGAGTTC 0.413000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 10 152 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13230890 13230890 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:13230890G>C ENST00000378694.1 + 9 1300 c.1225G>C c.(1225-1227)Gag>Cag p.E409Q MCM10_ENST00000484800.2_Missense_Mutation_p.E410Q|MCM10_ENST00000378714.3_Missense_Mutation_p.E409Q Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 410 Zinc finger-like. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 GCGTGACTGTGAGTACTGTCA 0.542000 15 303 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93722607 93722607 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:93722607C>T ENST00000394222.3 + 3 510 c.235C>T c.(235-237)Cgg>Tgg p.R79W ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.R79W|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_Intron NM_001174150.1 NP_001167621.1 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 79 R -> Q (in JBTS8; reduces binding to GTP). GTP binding p.R79R(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 AATAAGAATTCGGGGAATCTG 0.398000 19 105 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49634093 49634093 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:49634093C>G ENST00000374189.1 + 8 1032 c.851C>G c.(850-852)tCa>tGa p.S284* MAPK8_ENST00000374182.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000360332.3_Nonsense_Mutation_p.S284*|MAPK8_ENST00000395611.3_Nonsense_Mutation_p.S208* P45983 MK08_HUMAN mitogen-activated protein kinase 8 284 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CCAGCTGACTCAGAACACAAC 0.368000 7 132 0 0 1 0 0 IL33 90865 broad.mit.edu 37 9 6256016 6256016 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:6256016C>T ENST00000381434.3 + 7 674 c.661C>T c.(661-663)Cat>Tat p.H221Y IL33_ENST00000417746.2_Missense_Mutation_p.H95Y|IL33_ENST00000456383.2_Missense_Mutation_p.H179Y NM_033439.3 NP_254274.1 O95760 IL33_HUMAN interleukin 33 221 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) CTTTGTCCTTCATAATATGCA 0.408000 6 86 0 0 1 0 0 CSF1 1435 broad.mit.edu 37 1 110466036 110466036 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:110466036G>C ENST00000329608.6 + 6 1184 c.793G>C c.(793-795)Gag>Cag p.E265Q CSF1_ENST00000369802.3_Missense_Mutation_p.E265Q|CSF1_ENST00000344188.5_Missense_Mutation_p.E265Q|CSF1_ENST00000369801.1_Missense_Mutation_p.E265Q|CSF1_ENST00000420111.2_Intron NM_000757.5|NM_172211.3 NP_000748|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 265 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TGAGCCGCCAGAGACCCCAGT 0.637000 OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 78 0 0 1 0 0 PYGO1 26108 broad.mit.edu 37 15 55841140 55841140 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:55841140G>A ENST00000302000.6 - 2 197 c.103C>T c.(103-105)Cca>Tca p.P35S PYGO1_ENST00000563719.1_Missense_Mutation_p.P35S NM_015617.1 NP_056432.1 Q9Y3Y4 PYGO1_HUMAN pygopus family PHD finger 1 35 Wnt receptor signaling pathway nucleus zinc ion binding endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TTCTTATCTGGGCTTCCTAGT 0.373000 5 75 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146046248 146046248 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:146046248A>G ENST00000296577.4 + 17 2262 c.1747A>G c.(1747-1749)Att>Gtt p.I583V OTUD4_ENST00000455611.2_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 583 interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) ACTTAATTCAATTAAGGTATG 0.328000 3 53 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12061880 12061880 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:12061880A>T ENST00000235329.5 + 10 1347 c.1025A>T c.(1024-1026)gAg>gTg p.E342V MFN2_ENST00000444836.1_Missense_Mutation_p.E342V NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 342 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CAGAATTTTGAGAGGAGATTT 0.507000 OREG0013107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 241 0 0 1 0 0 YIPF3 25844 broad.mit.edu 37 6 43480030 43480030 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:43480030G>A ENST00000372422.2 - 9 1110 c.928C>T c.(928-930)Ccc>Tcc p.P310S YIPF3_ENST00000506469.1_Missense_Mutation_p.P316S NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 310 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GGGATGTTGGGGCCCTCCAGT 0.607000 5 101 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151884372 151884372 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:151884372G>A ENST00000355193.2 - 33 5201 c.4983C>T c.(4981-4983)ttC>ttT p.F1661F KMT2C_ENST00000262189.6_Silent_p.F1661F lysine (K)-specific methyltransferase 2C TTAAGTTGGGGAAATTAATAT 0.393000 6 104 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12939549 12939549 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:12939549G>C ENST00000218032.6 + 2 2477 c.2390G>C c.(2389-2391)aGa>aCa p.R797T TLR8_ENST00000311912.5_Missense_Mutation_p.R815T NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 797 LRRCT. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAAATTCCCAGACTGGTAGAT 0.433000 4 89 0 0 1 0 0 KIF2C 11004 broad.mit.edu 37 1 45221772 45221772 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:45221772G>A ENST00000372217.1 + 9 1029 c.678G>A c.(676-678)gtG>gtA p.V226V KIF2C_ENST00000372218.4_Silent_p.V239V|KIF2C_ENST00000372222.3_Silent_p.V167V|KIF2C_ENST00000372224.4_Silent_p.V280V|KIF2C_ENST00000493027.1_3'UTR Q99661 KIF2C_HUMAN kinesin family member 2C 280 Globular (Potential).|Negative regulator of microtubule-binding (By similarity). blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1) 34 Acute lymphoblastic leukemia(166;0.155) AAATTGATGTGATTTCCATTC 0.448000 6 135 0 0 1 0 0 SP1 6667 broad.mit.edu 37 12 53776633 53776633 + Nonsense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:53776633C>G ENST00000426431.2 + 3 941 c.881C>G c.(880-882)tCa>tGa p.S294* SP1_ENST00000327443.4_Nonsense_Mutation_p.S301* NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 301 Ser/Thr-rich.|Transactivation domain B (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CCTGTCACCTCAGGGACTACC 0.537000 6 112 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88144674 88144674 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:88144674A>G ENST00000507897.1 + 11 1480 c.1397A>G c.(1396-1398)tAt>tGt p.Y466C C6ORF165_ENST00000369562.4_Missense_Mutation_p.Y466C Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 466 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) CCTGAACATTATATTGACATA 0.279000 8 105 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250647 140250647 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr5:140250647C>T ENST00000398640.2 + 1 1959 c.1959C>T c.(1957-1959)caC>caT p.H653H PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGGATCACGGTGAGCCGG 0.677000 6 100 0 0 1 0 0 KCNQ2 3785 broad.mit.edu 37 20 62062712 62062712 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:62062712G>C ENST00000359689.1 - 9 1305 c.1129C>G c.(1129-1131)Caa>Gaa p.Q377E KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q377E|KCNQ2_ENST00000360480.3_Intron|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q377E|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q377E O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 377 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.Q377E(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCGTAGGTTTGAGTTTGCGAA 0.448000 6 102 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76781642 76781642 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:76781642G>A ENST00000287239.4 + 16 3514 c.3025G>A c.(3025-3027)Gag>Aag p.E1009K KAT6B_ENST00000372724.1_Missense_Mutation_p.E717K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E717K|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.E826K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E717K|KAT6B_ENST00000490365.1_3'UTR NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1009 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CACTTAGGCTGAGCGGCTAAT 0.493000 OREG0020273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 33 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151403213 151403213 + Nonsense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:151403213G>A ENST00000271715.2 - 4 702 c.388C>T c.(388-390)Cag>Tag p.Q130* POGZ_ENST00000368863.2_Intron|POGZ_ENST00000392723.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000409503.1_Nonsense_Mutation_p.Q130*|POGZ_ENST00000361398.3_Nonsense_Mutation_p.Q77*|POGZ_ENST00000491586.1_Nonsense_Mutation_p.Q77*|POGZ_ENST00000540984.1_5'UTR|POGZ_ENST00000531094.1_Nonsense_Mutation_p.Q77* NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 130 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGCATGACCTGAACAGGCCTC 0.507000 6 196 0 0 1 0 0 SPDYE1 285955 broad.mit.edu 37 7 44047099 44047099 + Nonsense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:44047099C>T ENST00000258704.3 + 5 1002 c.865C>T c.(865-867)Cag>Tag p.Q289* AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA NM_001099435.2|NM_175064.2 NP_001092905.2|NP_778234.2 Q8NFV5 SPDE1_HUMAN speedy/RINGO cell cycle regulator family member E1 289 Arg-rich. endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 11 GAACCGCTCTCAGATAGTCCT 0.587000 22 191 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731218 185731218 + Silent SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:185731218A>T ENST00000302277.6 + 2 828 c.234A>T c.(232-234)tcA>tcT p.S78S NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 78 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 ACATTAATTCATATGACCATG 0.363000 3 61 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29274891 29274891 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:29274891C>T ENST00000377160.2 + 1 489 c.425C>T c.(424-426)gCa>gTa p.A142V NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TGTAGGCATGCAGTGATAGCT 0.493000 4 137 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2285351 2285351 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:2285351C>T ENST00000301727.4 + 14 2181 c.2133C>T c.(2131-2133)atC>atT p.I711I E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Silent_p.I534I NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 711 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CCGACACCATCACCATCGCCA 0.687000 6 45 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4634707 4634707 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:4634707T>A ENST00000261250.3 - 5 636 c.549A>T c.(547-549)aaA>aaT p.K183N C12orf4_ENST00000545746.1_Missense_Mutation_p.K183N NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 183 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CTGTCAGTGATTTTCCCAATT 0.353000 10 101 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10122810 10122810 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:10122810C>G ENST00000287647.3 + 31 3096 c.3003C>G c.(3001-3003)ttC>ttG p.F1001L FANCD2_ENST00000419585.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383807.1_Missense_Mutation_p.F1001L|FANCD2_ENST00000383806.1_Missense_Mutation_p.F1001L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1001 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) ATATTGGATTCTCACATCTCC 0.408000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 5 133 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49932628 49932628 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:49932628G>A ENST00000296474.3 - 14 3270 c.3243C>T c.(3241-3243)gtC>gtT p.V1081V MST1R_ENST00000344206.4_Silent_p.V1032V NM_002447.2 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1081 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACTGTGGGTGACCACCCGCT 0.607000 18 384 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129601240 129601240 + Nonsense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:129601240G>T ENST00000421865.2 + 18 2534 c.2485G>T c.(2485-2487)Gga>Tga p.G829* NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 829 Laminin EGF-like 7. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCGGAGTCTTGGATTGATCTG 0.453000 5 56 0.00116845 0.00120722 1 1 0 RBM17 84991 broad.mit.edu 37 10 6156039 6156039 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:6156039G>C ENST00000446108.1 + 10 1602 c.958G>C c.(958-960)Gaa>Caa p.E320Q RBM17_ENST00000379888.4_Missense_Mutation_p.E320Q|RBM17_ENST00000476706.1_3'UTR NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 320 RRM. mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AGAGGTGGATGAAGACTTGGA 0.323000 3 44 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225379487 225379487 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:225379487G>T ENST00000264414.4 - 4 719 c.381C>A c.(379-381)gaC>gaA p.D127E CUL3_ENST00000409777.1_Missense_Mutation_p.D103E|CUL3_ENST00000344951.4_Missense_Mutation_p.D61E|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.D103E NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 127 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CATACACACGGTCCTACAGTT 0.313000 4 71 0.150653 0.150977 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2807793 2807793 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr8:2807793A>T ENST00000520002.1 - 68 10832 c.10277T>A c.(10276-10278)gTa>gAa p.V3426E CSMD1_ENST00000400186.3_Missense_Mutation_p.V3249E|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3425E|CSMD1_ENST00000602723.1_Missense_Mutation_p.V3249E|CSMD1_ENST00000542608.1_Missense_Mutation_p.V3248E|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3426E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3426 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAACTTGCTTACAAAAATATC 0.413000 7 137 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50006080 50006080 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:50006080G>C ENST00000443081.1 + 3 1745 c.826G>C c.(826-828)Gat>Cat p.D276H RBM6_ENST00000266022.4_Missense_Mutation_p.D408H|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron P78332 RBM6_HUMAN RNA binding motif protein 6 408 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GGAGTACCGTGATGTGGATCA 0.522000 8 59 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343481 130343481 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:130343481G>A ENST00000299164.2 + 8 2618 c.2618G>A c.(2617-2619)cGc>cAc p.R873H NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 873 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCGGGCAGCGCACGGTCCCT 0.746000 5 39 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42956138 42956138 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:42956138C>G ENST00000541208.1 + 5 942 c.573C>G c.(571-573)ttC>ttG p.F191L ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.F217L|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.F191L Q6ZS27 ZN662_HUMAN zinc finger protein 662 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) AGCAAATATTCTATATATGTG 0.363000 7 71 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55598902 55598902 + Missense_Mutation SNP G G A rs147330720 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:55598902G>A ENST00000201647.6 + 20 2148 c.2092G>A c.(2092-2094)Gag>Aag p.E698K EPS8L1_ENST00000586329.1_Missense_Mutation_p.E523K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E634K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E571K|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E384K NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 698 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCAGGACAAAGAGAAAGTGTC 0.597000 7 103 0 0 1 0 0 MAGEB3 4114 broad.mit.edu 37 X 30254056 30254056 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:30254056G>A ENST00000361644.2 + 5 752 c.15G>A c.(13-15)caG>caA p.Q5Q NM_002365.4 NP_002356.2 O15480 MAGB3_HUMAN melanoma antigen family B, 3 5 NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 25 CTCGGGGTCAGAAGAGTACGC 0.552000 3 26 0 0 1 0 0 CDCA7L 55536 broad.mit.edu 37 7 21946028 21946028 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:21946028C>T ENST00000406877.3 - 6 1079 c.800G>A c.(799-801)cGg>cAg p.R267Q CDCA7L_ENST00000373934.4_Missense_Mutation_p.R221Q|CDCA7L_ENST00000356195.5_Missense_Mutation_p.R233Q|CDCA7L_ENST00000465490.1_5'UTR NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 267 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GTTCATACGCCGCGTGATCTG 0.532000 8 267 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166237240 166237240 + Splice_Site SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:166237240A>T ENST00000357398.3 + 24 4736 c.e24+1 SCN2A_ENST00000283256.6_Splice_Site|SCN2A_ENST00000375437.2_Splice_Site|SCN2A_ENST00000375427.2_Splice_Site Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GAAAAAGAAGATAAGTATATT 0.274000 4 92 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56565497 56565497 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:56565497C>T ENST00000323777.3 - 1 248 c.139G>A c.(139-141)Gag>Aag p.E47K NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 47 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCTCGGCCTCGAAGAGCGGC 0.726000 6 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113380 209113380 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr2:209113380C>G ENST00000415913.1 - 4 508 c.127G>C c.(127-129)Gat>Cat p.D43H IDH1_ENST00000446179.1_Missense_Mutation_p.D43H|IDH1_ENST00000345146.2_Missense_Mutation_p.D43H NM_001282387.1 NP_001269316.1 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 43 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 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) ATGCCTAAATCATAGCTTGAA 0.388000 Mis gliobastoma 5 95 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48286119 48286119 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:48286119C>T ENST00000320048.1 + 1 707 c.707C>T c.(706-708)tCc>tTc p.S236F NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 AAGGCCCTCTCCACCTGTGCC 0.522000 4 84 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457967 45457967 + RNA SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr12:45457967T>A ENST00000548424.1 + 0 448 CAGCTTTTACTGTGCTGTCAC 0.438000 4 69 0 0 1 0 0 CELF2 10659 broad.mit.edu 37 10 11308601 11308601 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:11308601G>C ENST00000379261.4 + 6 650 c.558G>C c.(556-558)caG>caC p.Q186H CELF2_ENST00000354897.3_Missense_Mutation_p.Q162H|CELF2_ENST00000399850.3_Missense_Mutation_p.Q162H|CELF2_ENST00000417956.2_Missense_Mutation_p.Q162H|CELF2_ENST00000609692.1_Missense_Mutation_p.Q162H|CELF2_ENST00000416382.2_Missense_Mutation_p.Q186H|CELF2_ENST00000537122.1_Missense_Mutation_p.Q75H|CELF2_ENST00000542579.1_Missense_Mutation_p.Q193H|CELF2_ENST00000354440.2_Missense_Mutation_p.Q162H|CELF2_ENST00000427450.1_Missense_Mutation_p.Q162H|CELF2_ENST00000450189.1_Missense_Mutation_p.Q193H|CELF2_ENST00000315874.4_Missense_Mutation_p.Q162H|CELF2_ENST00000608830.1_Missense_Mutation_p.Q162H NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 186 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 CAATGGCACAGAATGCAATCA 0.448000 4 64 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731087 23731087 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:23731087T>C ENST00000397312.2 - 3 540 c.266A>G c.(265-267)gAc>gGc p.D89G ELAVL2_ENST00000380117.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D118G|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D89G|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D89G NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 89 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) ATCCTTGGGGTCAATGTAGTT 0.373000 4 61 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15234050 15234050 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:15234050C>T ENST00000263383.3 - 4 481 c.342G>A c.(340-342)acG>acA p.T114T ILVBL_ENST00000534378.1_Silent_p.T7T|ILVBL_ENST00000531635.1_5'UTR NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 114 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 CCACGCCCACCGTCCCTGGAA 0.597000 7 74 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968032 4968032 + Missense_Mutation SNP A A T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrY:4968032A>T ENST00000333703.4 + 5 2893 c.2380A>T c.(2380-2382)Aat>Tat p.N794Y PCDH11Y_ENST00000362095.5_Missense_Mutation_p.N805Y|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.N805Y NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 805 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 TCTGTTCGTGAATGAGTCAGT 0.428000 11 67 0 0 1 0 0 GPR85 54329 broad.mit.edu 37 7 112723668 112723668 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:112723668A>G ENST00000297146.3 - 3 1712 c.1109T>C c.(1108-1110)aTa>aCa p.I370T GPR85_ENST00000424100.1_Missense_Mutation_p.I370T|GPR85_ENST00000449591.1_Missense_Mutation_p.I370T|GPR85_ENST00000501255.2_Missense_Mutation_p.I370T NM_001146266.1 NP_001139738.1 P60893 GPR85_HUMAN G protein-coupled receptor 85 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 17 GCTCCCTCATATAACACAGTA 0.423000 10 139 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74631777 74631777 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:74631777C>T ENST00000253159.8 + 20 3512 c.3314C>T c.(3313-3315)tCa>tTa p.S1105L ZNF236_ENST00000320610.9_Missense_Mutation_p.S1107L NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1105 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGAAATGCATCACGGAAGTCT 0.478000 7 158 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19556878 19556878 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:19556878G>A ENST00000328405.2 + 14 2766 c.2500G>A c.(2500-2502)Gaa>Aaa p.E834K NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 834 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TTTTGGCTCTGAACGAATCAG 0.358000 13 39 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866662 37866662 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr17:37866662G>T ENST00000406381.2 + 9 1249 c.739G>T c.(739-741)Gac>Tac p.D247Y ERBB2_ENST00000540042.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D277Y|ERBB2_ENST00000578199.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D247Y|ERBB2_ENST00000269571.5_Missense_Mutation_p.D277Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D262Y NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 277 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTACAACACAGACACGTTTGA 0.592000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 6 64 8.12818e-05 8.5109e-05 1 1 0 PALB2 79728 broad.mit.edu 37 16 23647423 23647423 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:23647423C>T ENST00000261584.4 - 4 596 c.444G>A c.(442-444)aaG>aaA p.K148K NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 148 Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TCTGCTGCTTCTTTCTTCTGC 0.443000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 4 86 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34068019 34068019 + Silent SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:34068019G>A ENST00000373381.4 - 43 6836 c.6660C>T c.(6658-6660)ctC>ctT p.L2220L CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.L319L|CSMD2_ENST00000373388.2_Silent_p.L319L|CSMD2_ENST00000373380.1_Silent_p.L1093L NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2222 CUB 13. integral to membrane|plasma membrane protein binding 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) GGCTGAGGTTGAGGCGGACGC 0.592000 5 68 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130743646 130743646 + Missense_Mutation SNP T T G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:130743646T>G ENST00000264992.3 - 3 946 c.505A>C c.(505-507)Aaa>Caa p.K169Q ASTE1_ENST00000514044.1_Missense_Mutation_p.K169Q NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 169 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 AACCCAGTTTTCAGGTCAAAA 0.408000 3 75 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456194 5456194 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:5456194C>T ENST00000222033.4 + 1 769 c.692C>T c.(691-693)tCg>tTg p.S231L NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 231 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) TGCAACAAGTCGGCCCACGCG 0.687000 10 93 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201694 248201694 + Missense_Mutation SNP T T A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:248201694T>A ENST00000366479.2 + 1 221 c.125T>A c.(124-126)cTa>cAa p.L42Q OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATTGGAAATCTATCCATGATT 0.393000 18 282 0 0 1 0 0 CALU 813 broad.mit.edu 37 7 128399894 128399894 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:128399894G>C ENST00000542996.2 + 6 1598 c.655G>C c.(655-657)Gaa>Caa p.E219Q CALU_ENST00000535011.2_Missense_Mutation_p.E211Q|CALU_ENST00000449187.2_Missense_Mutation_p.E211Q|CALU_ENST00000538546.1_Missense_Mutation_p.E60Q|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000249364.4_Missense_Mutation_p.E211Q|CALU_ENST00000479257.1_Missense_Mutation_p.E219Q NM_001199672.1 NP_001186601.1 O43852 CALU_HUMAN calumenin 211 EF-hand 4. platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding kidney(2)|large_intestine(3)|lung(5) 10 CATTGATCTAGAAGAGTATAT 0.378000 5 163 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92797117 92797117 + Missense_Mutation SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:92797117G>T ENST00000377067.3 + 7 1808 c.1436G>T c.(1435-1437)tGg>tTg p.W479L NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 479 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CCTGACAAGTGGGAACTTCTT 0.433000 5 100 1.23904e-05 1.30912e-05 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26463232 26463232 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:26463232G>C ENST00000265944.5 + 30 4205 c.4039G>C c.(4039-4041)Gat>Cat p.D1347H MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1347 IQ 3. D -> H (in a renal clear cell carcinoma sample; somatic mutation). protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.D1347H(1) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGAGGAAGAAGATAAAGCAGC 0.498000 7 70 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79294083 79294083 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr15:79294083C>G ENST00000419573.3 - 17 2818 c.2544G>C c.(2542-2544)caG>caC p.Q848H RASGRF1_ENST00000394745.3_Missense_Mutation_p.Q64H|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q832H|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 850 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CATCATCACTCTGGTTTTGAT 0.318000 5 144 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384279 12384279 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr19:12384279T>C ENST00000356109.5 - 5 1053 c.935A>G c.(934-936)gAt>gGt p.D312G ZNF44_ENST00000355684.5_Missense_Mutation_p.D264G NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TGAACTGTAATCAGGGAAGGC 0.408000 8 237 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101378760 101378760 + Missense_Mutation SNP G G A TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:101378760G>A ENST00000312938.4 - 6 2493 c.1913C>T c.(1912-1914)tCg>tTg p.S638L NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGATGTTCCCGATGCTTCATT 0.413000 13 114 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36248708 36248708 + Silent SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr11:36248708C>T ENST00000315571.5 + 5 549 c.528C>T c.(526-528)atC>atT p.I176I LDLRAD3_ENST00000524419.1_Silent_p.I166I|LDLRAD3_ENST00000528989.1_Silent_p.I127I|LDLRAD3_ENST00000529759.1_3'UTR NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 176 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) CCTATGCCATCATCGGCAGCT 0.557000 6 143 0 0 1 0 0 PPP1R14C 81706 broad.mit.edu 37 6 150569923 150569923 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr6:150569923G>C ENST00000361131.4 + 4 582 c.465G>C c.(463-465)agG>agC p.R155S NM_030949.2 NP_112211.1 Q8TAE6 PP14C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14C 155 regulation of phosphorylation cytoplasm|membrane endometrium(1)|large_intestine(1)|prostate(1) 3 Ovarian(120;0.0284) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;9.14e-12) GAGGCATGAGGAAACTGAGCC 0.403000 4 55 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123857286 123857286 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr4:123857286C>G ENST00000274008.4 + 7 1378 c.1309C>G c.(1309-1311)Cag>Gag p.Q437E SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AAAGTTACGTCAGATATTTGC 0.303000 6 188 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35871662 35871662 + Missense_Mutation SNP C C T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr14:35871662C>T ENST00000216797.5 - 5 945 c.844G>A c.(844-846)Gag>Aag p.E282K NFKBIA_ENST00000557389.1_Missense_Mutation_p.E192K|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E239K|NFKBIA_ENST00000557100.1_5'UTR NM_020529.2 NP_065390.1 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 282 anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) TCCTCACTCTCTGGCAGCATC 0.562000 7 105 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380325 147380325 + Missense_Mutation SNP G G C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:147380325G>C ENST00000240986.4 + 2 296 c.243G>C c.(241-243)caG>caC p.Q81H GJA8_ENST00000369235.1_Missense_Mutation_p.Q81H NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 81 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) GGGTGCTGCAGATCATCTTCG 0.622000 10 113 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801586 67801586 + Silent SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:67801586T>C ENST00000544246.1 - 2 1678 c.987A>G c.(985-987)acA>acG p.T329T PCDH9_ENST00000377861.3_Silent_p.T329T|PCDH9_ENST00000328454.5_Silent_p.T329T|PCDH9_ENST00000456367.1_Silent_p.T329T|PCDH9_ENST00000377865.2_Silent_p.T329T NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 329 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGCCAGCACTGTCACTTTGT 0.463000 7 125 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100552078 100552078 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr7:100552078T>C ENST00000319509.7 + 1 829 c.829T>C c.(829-831)Tcc>Ccc p.S277P mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 AAATGTGGGCTCCGCTTCTAT 0.473000 11 442 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12336509 12336509 + Missense_Mutation SNP T T C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:12336509T>C ENST00000358136.3 + 19 2994 c.2864T>C c.(2863-2865)cTc>cCc p.L955P VPS13D_ENST00000356315.4_Missense_Mutation_p.L955P NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 955 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCGCAGCTCCTCCTGGCGGAA 0.502000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 76 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67340468 67340468 + Missense_Mutation SNP C C G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:67340468C>G ENST00000371026.3 - 5 851 c.796G>C c.(796-798)Gta>Cta p.V266L WDR78_ENST00000431318.1_Missense_Mutation_p.V12L|WDR78_ENST00000371023.3_Missense_Mutation_p.V266L|WDR78_ENST00000371022.3_Missense_Mutation_p.V266L NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 266 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 ACATACGTTACTTTCTCAGCT 0.403000 4 125 0 0 1 0 0 ZP4 57829 broad.mit.edu 37 1 238053228 238053228 + Silent SNP G G T TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:238053228G>T ENST00000366570.4 - 3 497 c.339C>A c.(337-339)ggC>ggA p.G113G RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 113 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GTTCAGCCGCGCCTGCTCCTT 0.562000 5 222 0.184627 0.184627 1 1 0 OR10Z1 128368 broad.mit.edu 37 1 158576894 158576894 + Frame_Shift_Del DEL G G - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr1:158576894delG ENST00000361284.1 + 1 666 c.666delG c.(664-666)ttgfs p.L222fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 222 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) CCTACATCTTGGCAGCAATAC 0.507 7 252 --- --- --- --- NTNG2 84628 broad.mit.edu 37 9 135042359 135042359 + Frame_Shift_Del DEL G G - rs148374128 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr9:135042359delG ENST00000393229.3 + 2 917 c.141delG c.(139-141)aagfs p.K47fs NTNG2_ENST00000360670.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000372179.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000393228.4_Frame_Shift_Del_p.K47fs NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 47 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGCGCCTGAAGGACTACGTCA 0.567 16 92 --- --- --- --- RP11-428C19.4 0 broad.mit.edu 37 11 19296063 19296063 + RNA DEL A A - rs111431546 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr11:19296063delA ENST00000527978.1 + 0 339 actctgtttcaaaaaaaaaaa 0.478 2 4 --- --- --- --- LATS2 26524 broad.mit.edu 37 13 21562482 21562483 + In_Frame_Ins INS - - GGGGCG rs56252009 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:21562482_21562483insGGGGCG ENST00000382592.4 - 4 1841_1842 c.1436_1437insCGCCCC c.(1435-1437)ccg>ccCGCCCCg p.479_479P>PAP LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 479 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CCTCCGCAgccggggcgggggc 0.787 2 4 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636172 73636173 + Frame_Shift_Ins INS - - CT TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr13:73636172_73636173insCT ENST00000377687.4 + 2 971_972 c.435_436insCT c.(436-438)ctgfs p.L146fs KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Ins_p.L55fs NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 146 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) ACATCACTCACCTGAGAACTGG 0.500 8 152 --- --- --- --- ZFP36L1 677 broad.mit.edu 37 14 69256451 69256452 + Frame_Shift_Ins INS - - C TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr14:69256451_69256452insC ENST00000439696.2 - 2 1116_1117 c.815_816insG c.(814-816)ggcfs p.G272fs ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G272fs NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 272 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGTCGGGGAGCCACCCCCGGG 0.639 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 125 --- --- --- --- VPS9D1 9605 broad.mit.edu 37 16 89785450 89785452 + In_Frame_Del DEL CTT CTT - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr16:89785450_89785452delCTT ENST00000389386.3 - 2 282_284 c.158_160delAAG c.(157-162)gaagtg>gtg p.E53del VPS9D1_ENST00000561976.1_5'UTR NM_004913.2 NP_004904.2 VPS9 domain containing 1 GTGGTTTCCACTTCTTCTAGTAA 0.571 13 111 --- --- --- --- PLTP 5360 broad.mit.edu 37 20 44533742 44533742 + Frame_Shift_Del DEL G G - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chr20:44533742delG ENST00000477313.1 - 8 1315 c.721delC c.(721-723)ctgfs p.L241fs PLTP_ENST00000420868.2_Frame_Shift_Del_p.L146fs|PLTP_ENST00000372420.1_Frame_Shift_Del_p.L153fs|PLTP_ENST00000542937.1_Frame_Shift_Del_p.L261fs|PLTP_ENST00000372431.3_Frame_Shift_Del_p.L241fs|PLTP_ENST00000354050.4_Frame_Shift_Del_p.L189fs P55058 PLTP_HUMAN phospholipid transfer protein 241 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) CTCTCAGTCAGGGGGAAGAAG 0.627 7 54 --- --- --- --- EGFL6 25975 broad.mit.edu 37 X 13636158 13636160 + In_Frame_Del DEL GAG GAG - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b 8c896e3f-272c-4fc2-a849-a808ce632816 g.chrX:13636158_13636160delGAG ENST00000361306.1 + 8 1345_1347 c.1088_1090delGAG c.(1087-1092)cgagga>cga p.G364del EGFL6_ENST00000380602.3_In_Frame_Del_p.G364del NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 364 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CGAAGCCTGCGAGGAGATGTGTT 0.379 7 53 --- --- --- --- LOC100288069 100288069 broad.mit.edu 37 1 700514 700514 + RNA DEL A A - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 3 6 --- --- --- --- LOC100131564 100131564 broad.mit.edu 37 1 93744310 93744310 + RNA DEL T T - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:93744310delT ENST00000451302.2 - 0 1008 RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA GGAATGCaaattttttttttt 0.279 3 3 --- --- --- --- OR10Z1 128368 broad.mit.edu 37 1 158576894 158576894 + Frame_Shift_Del DEL G G - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr1:158576894delG ENST00000361284.1 + 1 666 c.666delG c.(664-666)ttgfs p.L222fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 222 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) CCTACATCTTGGCAGCAATAC 0.507 7 252 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75786761 75786761 + Frame_Shift_Del DEL C C - rs145576551 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr3:75786761delC ENST00000478296.1 - 4 2139 c.1863delG c.(1861-1863)gggfs p.G621fs ZNF717_ENST00000422325.1_Frame_Shift_Del_p.G671fs|ZNF717_ENST00000477374.1_Intron|ZNF717_ENST00000400845.3_Frame_Shift_Del_p.G664fs|ZNF717_ENST00000491507.1_Intron C9JSV9 C9JSV9_HUMAN zinc finger protein 717 671 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 TACGGTTTTTCCCCGTGTGAG 0.408 4 2 --- --- --- --- NTNG2 84628 broad.mit.edu 37 9 135042359 135042359 + Frame_Shift_Del DEL G G - rs148374128 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr9:135042359delG ENST00000393229.3 + 2 917 c.141delG c.(139-141)aagfs p.K47fs NTNG2_ENST00000372179.3_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000393228.4_Frame_Shift_Del_p.K47fs|NTNG2_ENST00000360670.3_Frame_Shift_Del_p.K47fs NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 47 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGCGCCTGAAGGACTACGTCA 0.567 16 92 --- --- --- --- LINC00202-1 387644 broad.mit.edu 37 10 27223577 27223579 + RNA DEL AAT AAT - rs71673553 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:27223577_27223579delAAT ENST00000431296.1 - 0 3159 NR_026795.1 TCTTACaaaaaataaataaataa 0.305 2 4 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51826259 51826259 + RNA DEL A A - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr10:51826259delA ENST00000456967.1 - 0 1278 NR_038275.1 TAACAAAAGCAAAAAAAAAAA 0.333 2 4 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636172 73636173 + Frame_Shift_Ins INS - - CT TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr13:73636172_73636173insCT ENST00000377687.4 + 2 971_972 c.435_436insCT c.(436-438)ctgfs p.L146fs KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Ins_p.L55fs NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 146 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) ACATCACTCACCTGAGAACTGG 0.500 8 152 --- --- --- --- SPIRE2 84501 broad.mit.edu 37 16 89916880 89916882 + In_Frame_Del DEL GAG GAG - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr16:89916880_89916882delGAG ENST00000378247.3 + 3 500_502 c.457_459delGAG c.(457-459)gagdel p.E157del SPIRE2_ENST00000393062.2_In_Frame_Del_p.E157del|SPIRE2_ENST00000564878.1_3'UTR NM_032451.1 NP_115827.1 Q8WWL2 SPIR2_HUMAN spire-type actin nucleation factor 2 157 KIND. transport cytoplasm|cytoskeleton actin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) CGGGGGTCCCGAGGAGGAGGAGG 0.729 3 6 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggcgac>ggc p.D17del POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 17 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 6 1 --- --- --- --- PLTP 5360 broad.mit.edu 37 20 44533742 44533742 + Frame_Shift_Del DEL G G - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chr20:44533742delG ENST00000477313.1 - 8 1315 c.721delC c.(721-723)ctgfs p.L241fs PLTP_ENST00000372431.3_Frame_Shift_Del_p.L241fs|PLTP_ENST00000354050.4_Frame_Shift_Del_p.L189fs|PLTP_ENST00000542937.1_Frame_Shift_Del_p.L261fs|PLTP_ENST00000420868.2_Frame_Shift_Del_p.L146fs|PLTP_ENST00000372420.1_Frame_Shift_Del_p.L153fs P55058 PLTP_HUMAN phospholipid transfer protein 241 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) CTCTCAGTCAGGGGGAAGAAG 0.627 7 54 --- --- --- --- EGFL6 25975 broad.mit.edu 37 X 13636158 13636160 + In_Frame_Del DEL GAG GAG - TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-11A-21D-A34U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1edc3d71-1ce5-4cde-a9f0-08f16518308b f997634b-daa1-44c7-a9af-2b6897856b91 g.chrX:13636158_13636160delGAG ENST00000361306.1 + 8 1345_1347 c.1088_1090delGAG c.(1087-1092)cgagga>cga p.G364del EGFL6_ENST00000380602.3_In_Frame_Del_p.G364del NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 364 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 CGAAGCCTGCGAGGAGATGTGTT 0.379 7 53 --- --- --- ---